#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_match_norm_validation_allele1	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_tumor_sample
PANK4	55229	broad.mit.edu	37	1	2453183	2453183	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:2453183C>G	ENST00000378466.3	-	2	193	c.181G>C	c.(181-183)Gtg>Ctg	p.V61L	PANK4_ENST00000435556.3_Missense_Mutation_p.V61L|PANK4_ENST00000491212.1_5'UTR	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	61					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AAAGACCGCACCTTGGCGACT	0.607																																						uc001ajm.1		NaN																	0				upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1)	3						c.(181-183)GTG>CTG		pantothenate kinase 4							172.0	164.0	167.0					1																	2453183		2203	4300	6503	SO:0001583	missense	55229				coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	g.chr1:2453183C>G	AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.181G>C	1.37:g.2453183C>G	ENSP00000367727:p.Val61Leu					PANK4_uc010nza.1_Missense_Mutation_p.V61L	p.V61L	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	2	190	-	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	61					B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Missense_Mutation	SNP	ENST00000378466.3	37	c.181G>C	CCDS42.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612889	0.87258	.	.	ENSG00000157881	ENST00000378466;ENST00000435556	D;D	0.99499	-6.02;-3.84	4.85	4.85	0.62838	.	0.000000	0.64402	D	0.000001	D	0.98676	0.9556	L	0.52759	1.655	0.80722	D	1	P;P	0.49307	0.856;0.922	P;P	0.49887	0.525;0.625	D	0.99943	1.1428	10	0.15952	T	0.53	-35.6312	16.9366	0.86204	0.0:1.0:0.0:0.0	.	61;61	E9PHT6;Q9NVE7	.;PANK4_HUMAN	L	61	ENSP00000367727:V61L;ENSP00000421433:V61L	ENSP00000367727:V61L	V	-	1	0	PANK4	2443043	1.000000	0.71417	0.906000	0.35671	0.830000	0.47004	6.980000	0.76160	2.240000	0.73641	0.563000	0.77884	GTG		0.607	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1				44	138	0	0	0	0.010771	0	44	138		
ENO1	2023	broad.mit.edu	37	1	8927305	8927305	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:8927305C>T	ENST00000234590.4	-	6	434	c.315G>A	c.(313-315)aaG>aaA	p.K105K		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	105	Required for repression of c-myc promoter activity.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TCGCACCAAACTTAGCTAGAA	0.542																																					Esophageal Squamous(21;302 608 19946 22210 33560)	uc001apj.1		NaN																	0				ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(313-315)AAG>AAA		enolase 1							80.0	85.0	83.0					1																	8927305		2203	4300	6503	SO:0001819	synonymous_variant	2023				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:8927305C>T	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.315G>A	1.37:g.8927305C>T						ENO1_uc001api.1_Silent_p.K9K|ENO1_uc001apk.1_Silent_p.K50K|ENO1_uc001apl.1_Silent_p.K105K|ENO1_uc009vmi.1_Silent_p.K62K|ENO1_uc009vmj.1_Silent_p.K105K|ENO1_uc009vmk.1_Intron|ENO1_uc009vml.1_Silent_p.K105K	p.K105K	NM_001428	NP_001419	P06733	ENOA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	6	466	-	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	105			Required for repression of c-myc promoter activity.		B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Silent	SNP	ENST00000234590.4	37	c.315G>A	CCDS97.1																																																																																				0.542	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1		NM_001428		35	82	0	0	0	0.003755	0	35	82		
Unknown	0	broad.mit.edu	37	1	13183780	13183780	+	IGR	SNP	A	A	C	rs116484938	byFrequency	TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:13183780A>C								RP13-221M14.3 (19312 upstream) : PRAMEF26 (32575 downstream)																							CCTCCACATCAGATTTCTTGA	0.468																																						uc010obg.1		NaN																	0					0						c.(91-93)TCT>TCG		heterogeneous nuclear ribonucleoprotein C-like							60.0	43.0	48.0					1																	13183780		690	1587	2277	SO:0001628	intergenic_variant	440563					ribonucleoprotein complex	nucleic acid binding|nucleotide binding	g.chr1:13183780A>C																													1.37:g.13183780A>C							p.S31S	NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN			1	188	-			31						Silent	SNP		37	c.93T>G																																																																																				0	0.468										6	111	0	0	0	0.006214	0	6	111		
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						uc009vos.1		NaN																	0					0						c.e6+1		hypothetical protein LOC55672																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T						NBPF1_uc010oce.1_Intron		NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37	c.-35_splice																																																																																					0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3		NM_017940	Intron	8	110	0	0	0	0.006214	0	8	110		
ARID1A	8289	broad.mit.edu	37	1	27094374	27094374	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:27094374C>T	ENST00000324856.7	+	11	3453	c.3082C>T	c.(3082-3084)Ctg>Ttg	p.L1028L	ARID1A_ENST00000457599.2_Silent_p.L1028L|ARID1A_ENST00000374152.2_Silent_p.L645L	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1028	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGACCGTTATCTGGCCTTCAC	0.502			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(3082-3084)CTG>TTG		AT rich interactive domain 1A isoform a							219.0	178.0	192.0					1																	27094374		2203	4300	6503	SO:0001819	synonymous_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27094374C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3082C>T	1.37:g.27094374C>T						ARID1A_uc001bmt.1_Silent_p.L1028L|ARID1A_uc001bmu.1_Silent_p.L1028L|ARID1A_uc001bmw.1_Silent_p.L645L	p.L1028L	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	11	3455	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1028			ARID.		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.3082C>T	CCDS285.1																																																																																				0.502	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		51	100	0	0	0	0.01441	0	51	100		
CDCA8	55143	broad.mit.edu	37	1	38161616	38161616	+	Silent	SNP	G	G	A	rs202090005		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:38161616G>A	ENST00000373055.1	+	3	531	c.258G>A	c.(256-258)gcG>gcA	p.A86A	CDCA8_ENST00000327331.2_Silent_p.A86A	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	86	Required for centromere localization.|Required for interaction with SENP3.|Required to form a minimal CPC core complex that localizes to the central spindle and midbody and properly executes the role of the CPC during cytokinesis.				chromosome organization (GO:0051276)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGAAGAGGCGGCAACAGTAA	0.408																																						uc001cbr.2		NaN																	0				central_nervous_system(1)	1						c.(256-258)GCG>GCA		cell division cycle associated 8							97.0	98.0	97.0					1																	38161616		2203	4300	6503	SO:0001819	synonymous_variant	55143				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding	g.chr1:38161616G>A	BG354581	CCDS424.1	1p34.3	2013-01-17			ENSG00000134690	ENSG00000134690			14629	protein-coding gene	gene with protein product	"""borealin"""	609977				12188893, 15260989	Standard	NM_001256875		Approved	FLJ12042, MESRGP, BOR, DasraB	uc001cbs.4	Q53HL2	OTTHUMG00000004320	ENST00000373055.1:c.258G>A	1.37:g.38161616G>A						CDCA8_uc001cbs.2_Silent_p.A86A|CDCA8_uc010oih.1_Silent_p.A19A	p.A86A	NM_018101	NP_060571	Q53HL2	BOREA_HUMAN			4	365	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	86			Required for centromere localization.|Required for interaction with SENP3.|Required to form a minimal CPC core complex that localizes to the central spindle and midbody and properly executes the role of the CPC during cytokinesis.		D3DPT4|Q53HN1|Q96AM3|Q9NVW5	Silent	SNP	ENST00000373055.1	37	c.258G>A	CCDS424.1																																																																																				0.408	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012473.1		NM_018101		9	42	0	0	0	0.004482	0	9	42		
IPO13	9670	broad.mit.edu	37	1	44423127	44423127	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:44423127C>T	ENST00000372343.3	+	7	2108	c.1446C>T	c.(1444-1446)gtC>gtT	p.V482V	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	482					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCATTGACGTCAACTATTCTG	0.562																																						uc001ckx.2		NaN																	0				central_nervous_system(1)	1						c.(1444-1446)GTC>GTT		importin 13							153.0	128.0	137.0					1																	44423127		2203	4300	6503	SO:0001819	synonymous_variant	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44423127C>T	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.1446C>T	1.37:g.44423127C>T							p.V482V	NM_014652	NP_055467	O94829	IPO13_HUMAN			7	2241	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	482			HEAT 8.		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Silent	SNP	ENST00000372343.3	37	c.1446C>T	CCDS503.1																																																																																				0.562	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1		NM_014652		11	105	0	0	0	0.012319	0	11	105		
IPO13	9670	broad.mit.edu	37	1	44423149	44423150	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:44423149_44423150GG>TT	ENST00000372343.3	+	7	2130_2131	c.1468_1469GG>TT	c.(1468-1470)GGg>TTg	p.G490L	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	490					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G490W(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGTGGTGCCTGGGCTCATTGGC	0.559																																						uc001ckx.2		NaN																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1468-1470)GGG>TTG		importin 13																																				SO:0001583	missense	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44423149_44423150GG>TT	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	Exception_encountered	1.37:g.44423149_44423150delinsTT	ENSP00000361418:p.Gly490Leu						p.G490L	NM_014652	NP_055467	O94829	IPO13_HUMAN			7	2263_2264	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	490			HEAT 8.		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	DNP	ENST00000372343.3	37	c.1468_1469GG>TT	CCDS503.1																																																																																				0.559	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1		NM_014652		12	116	0	0	0	0.004672	0	12	116		
ATG4C	84938	broad.mit.edu	37	1	63284996	63284996	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:63284996C>G	ENST00000317868.4	+	5	922	c.715C>G	c.(715-717)Cac>Gac	p.H239D	ATG4C_ENST00000371120.3_Missense_Mutation_p.H239D	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	239					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|protein targeting to membrane (GO:0006612)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						TGTGGTTGCTCACATTTTAAG	0.363																																						uc001dat.2		NaN																	0				ovary(1)	1						c.(715-717)CAC>GAC		APG4 autophagy 4 homolog C isoform 8							65.0	63.0	64.0					1																	63284996		2203	4300	6503	SO:0001583	missense	84938				autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity	g.chr1:63284996C>G	AK027773	CCDS623.1	1p31.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000125703	ENSG00000125703			16040	protein-coding gene	gene with protein product		611339	"""AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog C (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog C (S. cerevisiae)"""	AUTL1, APG4C		12446702	Standard	NM_032852		Approved	FLJ14867, AUTL3	uc001dau.3	Q96DT6	OTTHUMG00000009142	ENST00000317868.4:c.715C>G	1.37:g.63284996C>G	ENSP00000322159:p.His239Asp					ATG4C_uc001dau.2_Missense_Mutation_p.H239D	p.H239D	NM_178221	NP_835739	Q96DT6	ATG4C_HUMAN			5	877	+			239					A6NLR8|D3DQ58|Q96K04	Missense_Mutation	SNP	ENST00000317868.4	37	c.715C>G	CCDS623.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962215	0.53400	.	.	ENSG00000125703	ENST00000317868;ENST00000371120;ENST00000540025	T;T	0.43294	0.95;0.95	5.92	5.02	0.67125	.	0.085603	0.85682	D	0.000000	T	0.55289	0.1911	M	0.75884	2.315	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.59894	-0.7368	10	0.46703	T	0.11	-15.5009	15.1447	0.72641	0.0:0.9324:0.0:0.0676	.	239	Q96DT6	ATG4C_HUMAN	D	239	ENSP00000322159:H239D;ENSP00000360161:H239D	ENSP00000322159:H239D	H	+	1	0	ATG4C	63057584	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	7.818000	0.86416	1.505000	0.48720	-0.145000	0.13849	CAC		0.363	ATG4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025332.2		NM_032852		27	63	0	0	0	0.00632	0	27	63		
LEPR	3953	broad.mit.edu	37	1	66074462	66074462	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:66074462A>G	ENST00000349533.6	+	12	1815	c.1630A>G	c.(1630-1632)Aaa>Gaa	p.K544E	LEPR_ENST00000371060.3_Missense_Mutation_p.K544E|LEPR_ENST00000371059.3_Missense_Mutation_p.K544E|LEPR_ENST00000344610.8_Missense_Mutation_p.K544E|LEPR_ENST00000371058.1_Missense_Mutation_p.K544E|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000462765.1_3'UTR	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATCCAGTGTGAAAGCAGAAAT	0.313																																						uc001dci.2		NaN																	0				skin(1)	1						c.(1630-1632)AAA>GAA		leptin receptor isoform 1							41.0	43.0	43.0					1																	66074462		2203	4298	6501	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66074462A>G	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.1630A>G	1.37:g.66074462A>G	ENSP00000330393:p.Lys544Glu					LEPR_uc001dcg.2_Missense_Mutation_p.K544E|LEPR_uc001dch.2_Missense_Mutation_p.K544E|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.K544E|LEPR_uc001dck.2_Missense_Mutation_p.K544E	p.K544E	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	12	1832	+			544			Extracellular (Potential).|Fibronectin type-III 2.		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.1630A>G	CCDS631.1	.	.	.	.	.	.	.	.	.	.	A	12.57	1.977541	0.34848	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	5.45	4.31	0.51392	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.357870	0.35096	N	0.003460	T	0.33527	0.0866	L	0.43554	1.36	0.80722	D	1	B;B;P	0.41929	0.288;0.411;0.765	B;B;P	0.47705	0.165;0.423;0.555	T	0.12451	-1.0547	10	0.23302	T	0.38	-2.827	8.4892	0.33089	0.799:0.1316:0.0695:0.0	.	544;544;544	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	E	544	ENSP00000340884:K544E;ENSP00000330393:K544E;ENSP00000360099:K544E;ENSP00000360098:K544E;ENSP00000360097:K544E	ENSP00000340884:K544E	K	+	1	0	LEPR	65847050	0.998000	0.40836	0.972000	0.41901	0.934000	0.57294	2.154000	0.42291	0.900000	0.36469	-0.323000	0.08544	AAA		0.313	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1		NM_002303		8	50	0	0	0	0.00308	0	8	50		
DDAH1	23576	broad.mit.edu	37	1	85824470	85824470	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:85824470C>G	ENST00000284031.8	-	2	458	c.364G>C	c.(364-366)Gaa>Caa	p.E122Q	DDAH1_ENST00000542148.1_Missense_Mutation_p.E22Q|DDAH1_ENST00000483110.1_5'UTR|DDAH1_ENST00000539042.1_Missense_Mutation_p.E122Q|DDAH1_ENST00000535924.2_Missense_Mutation_p.E19Q|RP11-131L23.1_ENST00000426125.1_RNA|RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000426972.3_Missense_Mutation_p.E29Q	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	122					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of angiogenesis (GO:0045766)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of systemic arterial blood pressure (GO:0003073)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	GTTGCATTTTCATCTTTCATC	0.284																																						uc001dlb.2		NaN																	0					0						c.(364-366)GAA>CAA		dimethylarginine dimethylaminohydrolase 1	L-Citrulline(DB00155)						142.0	144.0	143.0					1																	85824470		2202	4299	6501	SO:0001583	missense	23576				arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding	g.chr1:85824470C>G	AB001915	CCDS705.1, CCDS44170.1	1p22	2008-02-05			ENSG00000153904	ENSG00000153904	3.5.3.18		2715	protein-coding gene	gene with protein product		604743				9874257	Standard	NM_012137		Approved	DDAH	uc001dlb.3	O94760	OTTHUMG00000010578	ENST00000284031.8:c.364G>C	1.37:g.85824470C>G	ENSP00000284031:p.Glu122Gln					DDAH1_uc001dlc.2_Missense_Mutation_p.E19Q|uc001dla.1_Intron|DDAH1_uc010osb.1_Missense_Mutation_p.E22Q|DDAH1_uc009wco.2_Missense_Mutation_p.E19Q	p.E122Q	NM_012137	NP_036269	O94760	DDAH1_HUMAN		all cancers(265;0.0318)|Epithelial(280;0.0657)	2	525	-			122					Q5HYC8|Q86XK5	Missense_Mutation	SNP	ENST00000284031.8	37	c.364G>C	CCDS705.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783538	0.70222	.	.	ENSG00000153904	ENST00000284031;ENST00000539042;ENST00000535924;ENST00000426972;ENST00000542148	.	.	.	5.26	5.26	0.73747	.	0.053759	0.64402	D	0.000001	T	0.48021	0.1477	L	0.56769	1.78	0.80722	D	1	B;B	0.22541	0.007;0.071	B;B	0.28232	0.011;0.087	T	0.47328	-0.9126	9	0.21540	T	0.41	-8.2383	17.671	0.88217	0.0:1.0:0.0:0.0	.	22;122	B4DYP1;O94760	.;DDAH1_HUMAN	Q	122;122;19;29;22	.	ENSP00000284031:E122Q	E	-	1	0	DDAH1	85597058	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.371000	0.73119	2.467000	0.83353	0.563000	0.77884	GAA		0.284	DDAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029189.1				24	74	0	0	0	0.00632	0	24	74		
HS2ST1	9653	broad.mit.edu	37	1	87563566	87563566	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:87563566G>C	ENST00000370550.5	+	5	997	c.634G>C	c.(634-636)Gag>Cag	p.E212Q	RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.E186Q|HS2ST1_ENST00000370551.4_Missense_Mutation_p.E212Q|HS2ST1_ENST00000356813.4_Missense_Mutation_p.E186Q	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	212					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		CTGTGCTCCAGAGAAGCTCTG	0.458																																						uc010osk.1		NaN																	0				central_nervous_system(1)	1						c.(634-636)GAG>CAG		heparan sulfate 2-O-sulfotransferase 1 isoform							165.0	154.0	158.0					1																	87563566		2203	4300	6503	SO:0001583	missense	9653					Golgi membrane|integral to membrane		g.chr1:87563566G>C	AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936		"""Sulfotransferases, membrane-bound"""	5193	protein-coding gene	gene with protein product		604844				9455484	Standard	NM_012262		Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255	ENST00000370550.5:c.634G>C	1.37:g.87563566G>C	ENSP00000359581:p.Glu212Gln					HS2ST1_uc001dmc.3_Missense_Mutation_p.E212Q|LOC339524_uc001dme.1_Missense_Mutation_p.E173Q	p.E212Q	NM_012262	NP_036394	Q7LGA3	HS2ST_HUMAN		all cancers(265;0.00699)|Epithelial(280;0.0261)	5	1019	+		Lung NSC(277;0.153)	212			Lumenal (Potential).		D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Missense_Mutation	SNP	ENST00000370550.5	37	c.634G>C	CCDS711.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764055	0.69878	.	.	ENSG00000153936	ENST00000370551;ENST00000370550;ENST00000370548;ENST00000356813	T;D;D;D	0.81908	-1.38;-1.55;-1.55;-1.55	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.67173	0.2865	L	0.31664	0.95	0.80722	D	1	B;B	0.21452	0.056;0.046	B;B	0.22753	0.035;0.041	T	0.63010	-0.6732	10	0.23891	T	0.37	-37.2161	19.6092	0.95599	0.0:0.0:1.0:0.0	.	212;186	Q7LGA3;Q7LGA3-2	HS2ST_HUMAN;.	Q	212;212;186;186	ENSP00000359582:E212Q;ENSP00000359581:E212Q;ENSP00000359579:E186Q;ENSP00000349268:E186Q	ENSP00000349268:E186Q	E	+	1	0	HS2ST1	87336154	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	9.813000	0.99286	2.693000	0.91896	0.655000	0.94253	GAG		0.458	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028279.2		NM_012262		30	64	0	0	0	0.010818	0	30	64		
TGFBR3	7049	broad.mit.edu	37	1	92181853	92181853	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:92181853G>A	ENST00000525962.1	-	11	1867	c.1806C>T	c.(1804-1806)ctC>ctT	p.L602L	TGFBR3_ENST00000212355.4_Silent_p.L602L|TGFBR3_ENST00000370399.2_Silent_p.L601L			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	602	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GCACCAAAAAGAGGTCAGTGT	0.502																																						uc001doh.2		NaN																	0				ovary(3)	3						c.(1804-1806)CTC>CTT		transforming growth factor, beta receptor III							154.0	151.0	152.0					1																	92181853		2203	4300	6503	SO:0001819	synonymous_variant	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92181853G>A	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1806C>T	1.37:g.92181853G>A						TGFBR3_uc009wde.2_Silent_p.L379L|TGFBR3_uc010osy.1_Silent_p.L560L|TGFBR3_uc001doi.2_Silent_p.L601L|TGFBR3_uc001doj.2_Silent_p.L601L	p.L602L	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	12	2272	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	602			ZP.|Extracellular (Potential).		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	ENST00000525962.1	37	c.1806C>T	CCDS30770.1																																																																																				0.502	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1		NM_003243		15	40	0	0	0	0.003163	0	15	40		
C1orf146	388649	broad.mit.edu	37	1	92710355	92710355	+	Missense_Mutation	SNP	C	C	G	rs371131417		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:92710355C>G	ENST00000370375.3	+	5	497	c.349C>G	c.(349-351)Cga>Gga	p.R117G	C1orf146_ENST00000370373.2_Missense_Mutation_p.R58G	NM_001012425.1	NP_001012425.1	Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146	117										breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		TTGTAACTTACGAATACTTCC	0.353																																						uc001doq.2		NaN																	0				ovary(1)	1						c.(349-351)CGA>GGA		hypothetical protein LOC388649							122.0	113.0	116.0					1																	92710355		2203	4300	6503	SO:0001583	missense	388649							g.chr1:92710355C>G		CCDS30772.1	1p22.1	2008-02-05			ENSG00000203910	ENSG00000203910			24032	protein-coding gene	gene with protein product						15496913	Standard	NM_001012425		Approved		uc001doq.3	Q5VVC0	OTTHUMG00000010285	ENST00000370375.3:c.349C>G	1.37:g.92710355C>G	ENSP00000359401:p.Arg117Gly					C1orf146_uc010ote.1_Missense_Mutation_p.R58G	p.R117G	NM_001012425	NP_001012425	Q5VVC0	CA146_HUMAN		all cancers(265;0.00846)|Epithelial(280;0.0952)	5	421	+		all_lung(203;0.00528)|Lung NSC(277;0.0193)	117					Q5VVC4	Missense_Mutation	SNP	ENST00000370375.3	37	c.349C>G	CCDS30772.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302959	0.60195	.	.	ENSG00000203910	ENST00000370375;ENST00000370373	.	.	.	5.38	2.46	0.29980	.	0.208618	0.32624	N	0.005844	T	0.17534	0.0421	N	0.19112	0.55	0.34133	D	0.665506	B	0.18610	0.029	B	0.17979	0.02	T	0.03587	-1.1022	9	0.87932	D	0	-18.3097	7.1342	0.25519	0.1308:0.6758:0.1258:0.0676	.	117	Q5VVC0	CA146_HUMAN	G	117;96	.	ENSP00000359399:R96G	R	+	1	2	C1orf146	92482943	0.984000	0.35163	1.000000	0.80357	0.990000	0.78478	0.074000	0.14662	0.379000	0.24794	-0.158000	0.13435	CGA		0.353	C1orf146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028364.1		NM_001012425		33	52	0	0	0	0.004878	0	33	52		
PTBP2	58155	broad.mit.edu	37	1	97236333	97236333	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:97236333C>G	ENST00000426398.2	+	5	401	c.358C>G	c.(358-360)Cat>Gat	p.H120D	PTBP2_ENST00000370198.1_Missense_Mutation_p.H120D|PTBP2_ENST00000609116.1_Missense_Mutation_p.H120D|PTBP2_ENST00000541987.1_Missense_Mutation_p.H89D|PTBP2_ENST00000394184.3_Missense_Mutation_p.H131D|PTBP2_ENST00000370197.1_Missense_Mutation_p.H120D|PTBP2_ENST00000482253.1_3'UTR	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	120	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TGTGACACCTCATCTTCGTAA	0.328																																						uc001drq.2		NaN																	0					0						c.(358-360)CAT>GAT		polypyrimidine tract binding protein 2							104.0	102.0	102.0					1																	97236333		2203	4297	6500	SO:0001583	missense	58155						nucleotide binding	g.chr1:97236333C>G	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.358C>G	1.37:g.97236333C>G	ENSP00000412788:p.His120Asp					PTBP2_uc001drn.2_Missense_Mutation_p.H120D|PTBP2_uc001dro.2_Missense_Mutation_p.H120D|PTBP2_uc010otz.1_Missense_Mutation_p.H131D|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Missense_Mutation_p.H68D|PTBP2_uc001drr.2_Missense_Mutation_p.H120D|PTBP2_uc010oua.1_Missense_Mutation_p.H128D|PTBP2_uc001dru.2_RNA|PTBP2_uc001drm.2_Missense_Mutation_p.H120D	p.H120D	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	5	604	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)	120			RRM 1.		Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Missense_Mutation	SNP	ENST00000426398.2	37	c.358C>G	CCDS754.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.379105	0.42207	.	.	ENSG00000117569	ENST00000236228;ENST00000370198;ENST00000370197;ENST00000426398;ENST00000394184;ENST00000541987;ENST00000394176	T;T;T;T;T;T	0.76968	0.96;0.96;0.95;0.96;0.94;-1.06	5.22	5.22	0.72569	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.047900	0.85682	D	0.000000	T	0.77384	0.4122	M	0.63428	1.95	0.49582	D	0.999808	B;B;B;B;B;B;B	0.33413	0.0;0.411;0.358;0.001;0.0;0.001;0.307	B;B;B;B;B;B;P	0.45538	0.012;0.091;0.055;0.008;0.005;0.005;0.484	T	0.76386	-0.2978	10	0.35671	T	0.21	-3.8641	18.7903	0.91971	0.0:1.0:0.0:0.0	.	128;131;120;120;120;120;142	B4DSU5;B4DSS8;Q9UKA9-4;Q9UKA9;Q9UKA9-2;Q9UKA9-3;Q59G43	.;.;.;PTBP2_HUMAN;.;.;.	D	120;120;120;120;131;89;110	ENSP00000236228:H120D;ENSP00000359217:H120D;ENSP00000359216:H120D;ENSP00000412788:H120D;ENSP00000377738:H131D;ENSP00000442475:H89D	ENSP00000236228:H120D	H	+	1	0	PTBP2	97008921	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.761000	0.55242	2.430000	0.82344	0.655000	0.94253	CAT		0.328	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1				34	71	0	0	0	0.013726	0	34	71		
HIPK1	204851	broad.mit.edu	37	1	114483496	114483496	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:114483496C>T	ENST00000369558.1	+	2	723	c.491C>T	c.(490-492)aCa>aTa	p.T164I	HIPK1_ENST00000369559.4_Missense_Mutation_p.T164I|HIPK1_ENST00000369554.2_Missense_Mutation_p.T164I|HIPK1_ENST00000426820.2_Missense_Mutation_p.T164I|HIPK1_ENST00000369561.4_Missense_Mutation_p.T164I|HIPK1_ENST00000369555.2_Missense_Mutation_p.T164I			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	164					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTGTGACCACAAAGAGTAGC	0.517																																						uc001eem.2		NaN																	0				ovary(4)	4						c.(490-492)ACA>ATA		homeodomain-interacting protein kinase 1 isoform							67.0	66.0	66.0					1																	114483496		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114483496C>T	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.491C>T	1.37:g.114483496C>T	ENSP00000358571:p.Thr164Ile					HIPK1_uc001eel.2_Missense_Mutation_p.T164I|HIPK1_uc001een.2_Missense_Mutation_p.T164I	p.T164I	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	652	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	164					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.491C>T	CCDS867.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853173	0.71719	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561	T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000002	T	0.28400	0.0702	L	0.49126	1.545	0.80722	D	1	P;D	0.53745	0.808;0.962	B;P	0.49999	0.163;0.628	T	0.01448	-1.1352	10	0.59425	D	0.04	.	19.9719	0.97287	0.0:1.0:0.0:0.0	.	164;164	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	I	235;164;164;164;164;164;164	ENSP00000407442:T235I;ENSP00000358572:T164I;ENSP00000409673:T164I;ENSP00000358567:T164I;ENSP00000358568:T164I;ENSP00000358571:T164I;ENSP00000358574:T164I	ENSP00000358567:T164I	T	+	2	0	HIPK1	114285019	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.929000	0.70096	2.718000	0.92993	0.650000	0.86243	ACA		0.517	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1		NM_198268		40	62	0	0	0	0.007835	0	40	62		
VANGL1	81839	broad.mit.edu	37	1	116206768	116206768	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:116206768C>T	ENST00000355485.2	+	4	962	c.691C>T	c.(691-693)Ctc>Ttc	p.L231F	VANGL1_ENST00000369509.1_Missense_Mutation_p.L231F|VANGL1_ENST00000369510.4_Missense_Mutation_p.L229F|VANGL1_ENST00000310260.3_Missense_Mutation_p.L231F	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	231					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GGATGCCCTCCTCTTCATCCA	0.572																																						uc001efv.1		NaN																	0				central_nervous_system(1)	1						c.(691-693)CTC>TTC		vang-like 1							118.0	117.0	117.0					1																	116206768		2203	4300	6503	SO:0001583	missense	81839				multicellular organismal development	integral to membrane	protein binding	g.chr1:116206768C>T	AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"""vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)"", ""vang-like 1 (van gogh, Drosophila)"""			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.691C>T	1.37:g.116206768C>T	ENSP00000347672:p.Leu231Phe					VANGL1_uc009wgy.1_Missense_Mutation_p.L229F|VANGL1_uc001efw.1_Missense_Mutation_p.L231F	p.L231F	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	4	962	+	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)	231			Helical; Name=4; (Potential).		Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	ENST00000355485.2	37	c.691C>T	CCDS883.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758634	0.89843	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.93831	0.8027	M	0.89785	3.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93941	0.7223	10	0.87932	D	0	-22.9856	20.2921	0.98543	0.0:1.0:0.0:0.0	.	229;231	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	F	231;229;231;231	ENSP00000347672:L231F;ENSP00000358523:L229F;ENSP00000310800:L231F;ENSP00000358522:L231F	ENSP00000310800:L231F	L	+	1	0	VANGL1	116008291	1.000000	0.71417	0.991000	0.47740	0.785000	0.44390	7.487000	0.81328	2.879000	0.98667	0.650000	0.86243	CTC		0.572	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1				22	86	0	0	0	0.014323	0	22	86		
ADAMTSL4	54507	broad.mit.edu	37	1	150526564	150526564	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:150526564G>C	ENST00000369038.2	+	4	1298	c.1097G>C	c.(1096-1098)gGg>gCg	p.G366A	MIR4257_ENST00000581735.1_RNA|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.G366A|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.G366A|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.G366A			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	366					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AGATGTTCTGGGGAGAGTGAA	0.652																																						uc001eux.2		NaN																	0				ovary(1)|skin(1)	2						c.(1096-1098)GGG>GCG		thrombospondin repeat containing 1 isoform 1							26.0	29.0	28.0					1																	150526564		1901	3873	5774	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150526564G>C	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.1097G>C	1.37:g.150526564G>C	ENSP00000358034:p.Gly366Ala					ADAMTSL4_uc001euw.2_Missense_Mutation_p.G366A|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.G366A|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.G366A	p.G366A	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		6	1333	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		366					B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.1097G>C	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903593	0.72754	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.76578	3.08;3.08;-1.03;3.08	4.45	4.45	0.53987	.	.	.	.	.	T	0.75693	0.3884	L	0.29908	0.895	0.48087	D	0.999585	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.71184	0.939;0.972;0.939;0.972	T	0.79783	-0.1658	9	0.87932	D	0	.	12.466	0.55759	0.0:0.0:1.0:0.0	.	366;366;366;366	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	A	366	ENSP00000358037:G366A;ENSP00000271643:G366A;ENSP00000358035:G366A;ENSP00000358034:G366A	ENSP00000271643:G366A	G	+	2	0	ADAMTSL4	148793188	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.667000	0.61561	2.317000	0.78254	0.561000	0.74099	GGG		0.652	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4		NM_019032		12	46	0	0	0	0.013537	0	12	46		
MEX3A	92312	broad.mit.edu	37	1	156051352	156051352	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:156051352C>G	ENST00000532414.2	-	1	437	c.438G>C	c.(436-438)gaG>gaC	p.E146D	LMNA_ENST00000368301.2_5'Flank|MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	146	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					TGCCCACGATCTCGGCCACGT	0.637																																						uc001fnd.3		NaN																	0					0						c.(436-438)GAG>GAC		MEX3A protein							10.0	11.0	10.0					1																	156051352		2017	4190	6207	SO:0001583	missense	92312					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding	g.chr1:156051352C>G	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.438G>C	1.37:g.156051352C>G	ENSP00000432845:p.Glu146Asp					LMNA_uc001fnf.1_5'Flank	p.E146D	NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN			1	438	-	Hepatocellular(266;0.158)|all_neural(408;0.195)		146			KH 1.			Missense_Mutation	SNP	ENST00000532414.2	37	c.438G>C	CCDS53377.1	.	.	.	.	.	.	.	.	.	.	c	18.00	3.524464	0.64747	.	.	ENSG00000254726	ENST00000532414	T	0.28895	1.59	3.03	3.03	0.35002	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.295030	0.20993	U	0.081996	T	0.39410	0.1077	M	0.64997	1.995	0.51233	D	0.999917	D	0.63046	0.992	D	0.77004	0.989	T	0.21965	-1.0230	10	0.45353	T	0.12	.	11.8867	0.52606	0.0:1.0:0.0:0.0	.	146	A1L020	MEX3A_HUMAN	D	146	ENSP00000432845:E146D	ENSP00000432845:E146D	E	-	3	2	MEX3A	154317976	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.707000	0.47143	1.704000	0.51252	0.550000	0.68814	GAG		0.637	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3		NM_001093725		4	9	0	0	0	0.009096	0	4	9		
OR10J3	441911	broad.mit.edu	37	1	159283465	159283465	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:159283465A>G	ENST00000332217.5	-	1	984	c.985T>C	c.(985-987)Tac>Cac	p.Y329H		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	329						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AAAAATTAGTACATATTTATA	0.393																																						uc010piu.1		NaN																	0				ovary(2)	2						c.(985-987)TAC>CAC		olfactory receptor, family 10, subfamily J,							44.0	51.0	49.0					1																	159283465		2200	4286	6486	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159283465A>G		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.985T>C	1.37:g.159283465A>G	ENSP00000331789:p.Tyr329His						p.Y329H	NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN			1	985	-	all_hematologic(112;0.0429)		329			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000332217.5	37	c.985T>C	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.471205	0.43942	.	.	ENSG00000196266	ENST00000332217	T	0.00543	6.68	4.11	1.66	0.24008	.	.	.	.	.	T	0.00109	0.0003	N	0.08118	0	0.09310	N	1	B	0.29085	0.232	B	0.29440	0.102	T	0.27706	-1.0066	9	0.87932	D	0	.	6.6566	0.22990	0.6063:0.0:0.0:0.3937	.	329	Q5JRS4	O10J3_HUMAN	H	329	ENSP00000331789:Y329H	ENSP00000331789:Y329H	Y	-	1	0	OR10J3	157550089	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.258000	0.18387	0.327000	0.23409	0.533000	0.62120	TAC		0.393	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1				32	66	0	0	0	0.013726	0	32	66		
POU2F1	5451	broad.mit.edu	37	1	167339439	167339439	+	Silent	SNP	T	T	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:167339439T>G	ENST00000541643.3	+	5	363	c.201T>G	c.(199-201)tcT>tcG	p.S67S	POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Silent_p.S90S|POU2F1_ENST00000367866.2_Silent_p.S90S|POU2F1_ENST00000420254.3_Silent_p.S67S|POU2F1_ENST00000452019.1_Silent_p.S67S|POU2F1_ENST00000367862.5_Silent_p.S79S			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	67					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CTGCTCAGTCTTTAAATGTAC	0.358																																						uc001gec.2		NaN																	0				central_nervous_system(2)|skin(2)|breast(1)	5						c.(199-201)TCT>TCG		POU class 2 homeobox 1							91.0	92.0	91.0					1																	167339439		2203	4300	6503	SO:0001819	synonymous_variant	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167339439T>G	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.201T>G	1.37:g.167339439T>G						POU2F1_uc010plg.1_RNA|POU2F1_uc001ged.2_Silent_p.S65S|POU2F1_uc001gee.2_Silent_p.S67S|POU2F1_uc010plh.1_Silent_p.S67S|POU2F1_uc001gef.2_Silent_p.S79S|POU2F1_uc001geg.2_5'Flank	p.S67S	NM_002697	NP_002688	P14859	PO2F1_HUMAN			5	363	+			67					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Silent	SNP	ENST00000541643.3	37	c.201T>G																																																																																					0.358	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_002697		28	134	0	0	0	0.008361	0	28	134		
DCAF6	55827	broad.mit.edu	37	1	167921068	167921068	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:167921068T>G	ENST00000312263.6	+	2	332	c.128T>G	c.(127-129)cTt>cGt	p.L43R	DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000432587.2_Missense_Mutation_p.L43R|DCAF6_ENST00000367843.3_Missense_Mutation_p.L43R|DCAF6_ENST00000367840.3_Missense_Mutation_p.L43R	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	43					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AGATTAAAACTTGAAGCAACC	0.289																																						uc001gew.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(127-129)CTT>CGT		IQ motif and WD repeats 1 isoform b							54.0	59.0	57.0					1																	167921068		2201	4298	6499	SO:0001583	missense	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:167921068T>G	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.128T>G	1.37:g.167921068T>G	ENSP00000311949:p.Leu43Arg					DCAF6_uc001gev.2_Missense_Mutation_p.L43R|DCAF6_uc001gex.2_Missense_Mutation_p.L43R|DCAF6_uc010plk.1_Missense_Mutation_p.L43R	p.L43R	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN			2	370	+			43					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	c.128T>G	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	T	19.58	3.853384	0.71719	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.65549	0.12;-0.16;0.12;0.12	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.143088	0.45606	D	0.000347	T	0.71879	0.3392	M	0.72894	2.215	0.80722	D	1.000000	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;0.998;1.0;0.999	T	0.76782	-0.2832	9	0.59425	D	0.04	.	14.0276	0.64594	0.0:0.0:0.0:1.0	.	43;43;43;43	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	R	43	ENSP00000356817:L43R;ENSP00000396238:L43R;ENSP00000311949:L43R;ENSP00000356814:L43R	ENSP00000311949:L43R	L	+	2	0	DCAF6	166187692	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.963000	0.70372	1.958000	0.56883	0.455000	0.32223	CTT		0.289	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2		NM_018442		55	32	0	0	0	0.01441	0	55	32		
SELE	6401	broad.mit.edu	37	1	169696572	169696572	+	Silent	SNP	A	A	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:169696572A>C	ENST00000333360.7	-	10	1702	c.1563T>G	c.(1561-1563)ccT>ccG	p.P521P	SELE_ENST00000367780.4_Silent_p.P396P|SELE_ENST00000367777.1_Silent_p.P458P|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Silent_p.P458P|SELE_ENST00000367775.1_Silent_p.P396P|SELE_ENST00000367776.1_Silent_p.P458P|SELE_ENST00000367779.4_Silent_p.P395P|SELE_ENST00000367782.4_Silent_p.P458P|SELE_ENST00000367774.1_Silent_p.P395P	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	521	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	TCCATCCTTCAGGACAGGCGA	0.542																																						uc001ggm.3		NaN																	0				ovary(3)|skin(2)	5						c.(1561-1563)CCT>CCG		selectin E precursor							107.0	93.0	98.0					1																	169696572		2203	4300	6503	SO:0001819	synonymous_variant	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169696572A>C	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1563T>G	1.37:g.169696572A>C						C1orf112_uc001ggj.2_Intron	p.P521P	NM_000450	NP_000441	P16581	LYAM2_HUMAN			10	1720	-	all_hematologic(923;0.208)		521			Extracellular (Potential).|Sushi 6.		A2RRD6|P16111	Silent	SNP	ENST00000333360.7	37	c.1563T>G	CCDS1283.1																																																																																				0.542	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1		NM_000450		55	56	0	0	0	0.01441	0	55	56		
ABL2	27	broad.mit.edu	37	1	179077602	179077602	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:179077602G>A	ENST00000502732.1	-	12	3003	c.2800C>T	c.(2800-2802)Ctt>Ttt	p.L934F	ABL2_ENST00000507173.1_Missense_Mutation_p.L810F|ABL2_ENST00000504405.1_Missense_Mutation_p.L795F|ABL2_ENST00000367623.4_Missense_Mutation_p.L913F|ABL2_ENST00000512653.1_Missense_Mutation_p.L919F|ABL2_ENST00000408940.3_Missense_Mutation_p.L898F|ABL2_ENST00000511413.1_Missense_Mutation_p.L831F|ABL2_ENST00000344730.3_Missense_Mutation_p.L816F	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	934	Pro-rich.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GGTGAGATAAGGACTGGCACT	0.557			T	ETV6	AML																																	uc001gmj.3		NaN		Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14						c.(2800-2802)CTT>TTT		arg tyrosine kinase isoform b	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						100.0	93.0	95.0					1																	179077602		2203	4300	6503	SO:0001583	missense	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179077602G>A	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.2800C>T	1.37:g.179077602G>A	ENSP00000427562:p.Leu934Phe					ABL2_uc010pnf.1_Missense_Mutation_p.L831F|ABL2_uc010png.1_Missense_Mutation_p.L810F|ABL2_uc010pnh.1_Missense_Mutation_p.L913F|ABL2_uc001gmg.3_Missense_Mutation_p.L816F|ABL2_uc001gmi.3_Missense_Mutation_p.L919F|ABL2_uc001gmh.3_Missense_Mutation_p.L898F|ABL2_uc010pne.1_Missense_Mutation_p.L795F	p.L934F	NM_007314	NP_009298	P42684	ABL2_HUMAN			12	3087	-			934			Pro-rich.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.2800C>T	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702562	0.68501	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413	T;T;T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02	5.4	5.4	0.78164	.	0.000000	0.44902	D	0.000419	T	0.44307	0.1287	L	0.55481	1.735	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.998;0.999;1.0;0.999;0.998	D;D;D;D;D;D;D;D	0.87578	0.998;0.974;0.974;0.962;0.995;0.998;0.995;0.962	T	0.19516	-1.0303	10	0.56958	D	0.05	.	18.5341	0.91002	0.0:0.0:1.0:0.0	.	913;810;831;795;934;919;898;816	P42684-6;P42684-7;P42684-5;P42684-4;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;ABL2_HUMAN;.;.;.	F	934;898;816;919;795;913;810;831	ENSP00000427562:L934F;ENSP00000386152:L898F;ENSP00000339209:L816F;ENSP00000423578:L919F;ENSP00000426831:L795F;ENSP00000356595:L913F;ENSP00000423413:L810F;ENSP00000424697:L831F	ENSP00000339209:L816F	L	-	1	0	ABL2	177344225	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.493000	0.97960	2.679000	0.91253	0.655000	0.94253	CTT		0.557	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3		NM_005158		66	55	0	0	0	0.01441	0	66	55		
DHX9	1660	broad.mit.edu	37	1	182812436	182812436	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:182812436T>G	ENST00000367549.3	+	3	229	c.119T>G	c.(118-120)gTg>gGg	p.V40G		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	40	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)	p.V40G(8)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAGGTTCAGGTGGAAGGTTAT	0.333																																					Colon(69;210 1162 3697 13559 39565)	uc001gpr.2		NaN																	8	Substitution - Missense(8)		lung(5)|endometrium(1)|kidney(1)|central_nervous_system(1)	ovary(2)	2						c.(118-120)GTG>GGG		DEAH (Asp-Glu-Ala-His) box polypeptide 9							54.0	51.0	52.0					1																	182812436		1803	4059	5862	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182812436T>G	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.119T>G	1.37:g.182812436T>G	ENSP00000356520:p.Val40Gly					DHX9_uc001gps.2_5'UTR	p.V40G	NM_001357	NP_001348	Q08211	DHX9_HUMAN			3	282	+			40			DRBM 1.|Interaction with CREBBP.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.119T>G	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303744	0.81136	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	D	0.81996	-1.56	5.63	5.63	0.86233	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.93255	0.7851	M	0.94142	3.5	0.80722	D	1	D	0.67145	0.996	D	0.70716	0.97	D	0.94934	0.8085	10	0.87932	D	0	.	15.1117	0.72362	0.0:0.0:0.0:1.0	.	40	Q08211	DHX9_HUMAN	G	40	ENSP00000356520:V40G	ENSP00000356520:V40G	V	+	2	0	DHX9	181079059	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.285000	0.78660	2.263000	0.75096	0.533000	0.62120	GTG		0.333	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2		NM_030588		9	63	0	0	0	0.00499	0	9	63		
COLGALT2	23127	broad.mit.edu	37	1	183908076	183908076	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:183908076C>T	ENST00000361927.4	-	12	2071	c.1700G>A	c.(1699-1701)gGg>gAg	p.G567E	COLGALT2_ENST00000546159.1_Intron|COLGALT2_ENST00000367520.3_Missense_Mutation_p.G304E|COLGALT2_ENST00000486375.1_Intron|COLGALT2_ENST00000367521.1_Missense_Mutation_p.G175E	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	567					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										ACTCAGGTACCCCGGCTGGCC	0.562																																						uc001gqr.2		NaN																	0				ovary(1)|breast(1)	2						c.(1699-1701)GGG>GAG		glycosyltransferase 25 domain containing 2							152.0	138.0	142.0					1																	183908076		2203	4300	6503	SO:0001583	missense	23127				lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity	g.chr1:183908076C>T	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.1700G>A	1.37:g.183908076C>T	ENSP00000354960:p.Gly567Glu					GLT25D2_uc010poj.1_Intron|GLT25D2_uc001gqp.2_Missense_Mutation_p.G175E|GLT25D2_uc001gqq.2_Missense_Mutation_p.G304E|GLT25D2_uc001gqs.2_Missense_Mutation_p.G447E	p.G567E	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN			12	2072	-			567					O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	c.1700G>A	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.638795	0.67130	.	.	ENSG00000198756	ENST00000361927;ENST00000367521;ENST00000367520	T	0.78364	-1.17	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.86468	0.5940	M	0.64170	1.965	0.80722	D	1	D;P	0.89917	1.0;0.671	D;B	0.97110	1.0;0.225	D	0.84474	0.0601	10	0.31617	T	0.26	-10.915	18.7471	0.91797	0.0:1.0:0.0:0.0	.	567;304	Q8IYK4;Q5SXQ3	GT252_HUMAN;.	E	567;175;304	ENSP00000354960:G567E	ENSP00000354960:G567E	G	-	2	0	GLT25D2	182174699	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.841000	0.69409	2.411000	0.81874	0.563000	0.77884	GGG		0.562	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1		NM_015101		18	134	0	0	0	0.00499	0	18	134		
HMCN1	83872	broad.mit.edu	37	1	186022986	186022986	+	Silent	SNP	C	C	A	rs373249075		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:186022986C>A	ENST00000271588.4	+	44	6959	c.6730C>A	c.(6730-6732)Cga>Aga	p.R2244R	HMCN1_ENST00000367492.2_Silent_p.R2244R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2244	Ig-like C2-type 20.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTCCATGGGGCGAGTTAGAAT	0.428																																						uc001grq.1		NaN																	0				ovary(22)|skin(1)	23						c.(6730-6732)CGA>AGA		hemicentin 1 precursor							78.0	80.0	79.0					1																	186022986		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186022986C>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6730C>A	1.37:g.186022986C>A							p.R2244R	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			44	6959	+			2244			Ig-like C2-type 20.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.6730C>A	CCDS30956.1																																																																																				0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		16	95	1	0	1.15088e-07	0.004007	1.21879e-07	16	95		
KIF14	9928	broad.mit.edu	37	1	200569537	200569537	+	Silent	SNP	T	T	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:200569537T>A	ENST00000367350.4	-	12	2685	c.2247A>T	c.(2245-2247)acA>acT	p.T749T		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	749					ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTCTTAAGGATGTTATTTCTT	0.413																																						uc010ppk.1		NaN																	0				breast(3)|ovary(2)|skin(2)	7						c.(2245-2247)ACA>ACT		kinesin family member 14							271.0	250.0	257.0					1																	200569537		2203	4300	6503	SO:0001819	synonymous_variant	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200569537T>A	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.2247A>T	1.37:g.200569537T>A						KIF14_uc010ppj.1_Silent_p.T258T	p.T749T	NM_014875	NP_055690	Q15058	KIF14_HUMAN			12	2686	-			749			Potential.		Q14CI8|Q4G0A5|Q5T1W3	Silent	SNP	ENST00000367350.4	37	c.2247A>T	CCDS30963.1																																																																																				0.413	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1		NM_014875		63	293	0	0	0	0.01441	0	63	293		
HEATR1	55127	broad.mit.edu	37	1	236767261	236767261	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:236767261G>T	ENST00000366582.3	-	2	249	c.135C>A	c.(133-135)ttC>ttA	p.F45L	HEATR1_ENST00000366579.1_Missense_Mutation_p.F45L|HEATR1_ENST00000366581.2_Missense_Mutation_p.F45L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	45					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CACCAATGGCGAAGGCGGTGT	0.443																																						uc001hyd.1		NaN																	0				ovary(2)|skin(1)	3						c.(133-135)TTC>TTA		protein BAP28							58.0	59.0	59.0					1																	236767261		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236767261G>T	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.135C>A	1.37:g.236767261G>T	ENSP00000355541:p.Phe45Leu					HEATR1_uc001hye.1_Missense_Mutation_p.F45L	p.F45L	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		2	260	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	45					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.135C>A	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	g	20.5	4.005787	0.74932	.	.	ENSG00000119285	ENST00000366582;ENST00000366581;ENST00000366579	T;T;T	0.43294	0.95;0.95;0.95	5.35	3.03	0.35002	.	0.116385	0.64402	D	0.000012	T	0.36303	0.0962	L	0.42487	1.325	0.51767	D	0.999939	D	0.55605	0.972	P	0.46629	0.522	T	0.04579	-1.0941	10	0.23302	T	0.38	.	9.6783	0.40054	0.8577:0.0:0.1423:0.0	.	45	Q9H583	HEAT1_HUMAN	L	45	ENSP00000355541:F45L;ENSP00000355540:F45L;ENSP00000355538:F45L	ENSP00000355538:F45L	F	-	3	2	HEATR1	234833884	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	1.298000	0.33412	0.341000	0.23771	-0.374000	0.07098	TTC		0.443	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1		XM_375853		20	29	1	0	7.45023e-12	0.010504	8.06516e-12	20	29		
OR2L3	391192	broad.mit.edu	37	1	248224761	248224761	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr1:248224761C>T	ENST00000359959.3	+	1	778	c.778C>T	c.(778-780)Cgt>Tgt	p.R260C	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R260C(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			CACTTATCTACGTCCAAGATC	0.488																																						uc001idx.1		NaN																	1	Substitution - Missense(1)		endometrium(1)		0						c.(778-780)CGT>TGT		olfactory receptor, family 2, subfamily L,							116.0	110.0	112.0					1																	248224761		2203	4297	6500	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224761C>T	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.778C>T	1.37:g.248224761C>T	ENSP00000353044:p.Arg260Cys					OR2L13_uc001ids.2_Intron	p.R260C	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	778	+	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)		260			Extracellular (Potential).		B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.778C>T	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	C	6.587	0.476609	0.12521	.	.	ENSG00000198128	ENST00000359959	T	0.35789	1.29	2.01	1.0	0.19881	GPCR, rhodopsin-like superfamily (1);	1.357770	0.05838	N	0.618874	T	0.41465	0.1160	M	0.82056	2.57	0.09310	N	1	B	0.19073	0.033	B	0.21151	0.033	T	0.39035	-0.9633	10	0.48119	T	0.1	.	6.5119	0.22226	0.2035:0.5977:0.1988:0.0	.	260	Q8NG85	OR2L3_HUMAN	C	260	ENSP00000353044:R260C	ENSP00000353044:R260C	R	+	1	0	OR2L3	246291384	0.000000	0.05858	0.014000	0.15608	0.490000	0.33462	-0.395000	0.07287	0.148000	0.19059	0.456000	0.33151	CGT		0.488	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1		NM_001004687		47	118	0	0	0	0.01441	0	47	118		
BICC1	80114	broad.mit.edu	37	10	60560788	60560788	+	Missense_Mutation	SNP	C	C	T	rs139193189		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:60560788C>T	ENST00000373886.3	+	14	2001	c.1997C>T	c.(1996-1998)aCg>aTg	p.T666M	BICC1_ENST00000263103.1_Missense_Mutation_p.T292M	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	666					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TTGCAAGGCACGAAAAACTCA	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		17191	0.0		0.001	False		,,,				2504	0.0					uc001jki.1		NaN																	0				ovary(2)|lung(1)|skin(1)	4						c.(1996-1998)ACG>ATG		bicaudal C homolog 1		C	MET/THR	2,4404	4.2+/-10.8	0,2,2201	105.0	96.0	99.0		1997	5.9	1.0	10	dbSNP_134	99	4,8596	3.7+/-12.6	0,4,4296	yes	missense	BICC1	NM_001080512.1	81	0,6,6497	TT,TC,CC		0.0465,0.0454,0.0461	probably-damaging	666/975	60560788	6,13000	2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60560788C>T	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.1997C>T	10.37:g.60560788C>T	ENSP00000362993:p.Thr666Met					BICC1_uc001jkj.1_Missense_Mutation_p.T307M	p.T666M	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN			14	1997	+			666						Missense_Mutation	SNP	ENST00000373886.3	37	c.1997C>T	CCDS31206.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	23.5	4.419325	0.83559	4.54E-4	4.65E-4	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.55234	1.43;0.53	5.94	5.94	0.96194	.	0.139344	0.64402	D	0.000004	T	0.70692	0.3253	L	0.58101	1.795	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;P	0.67725	0.953;0.877	T	0.70967	-0.4728	10	0.87932	D	0	-13.7966	20.3591	0.98849	0.0:1.0:0.0:0.0	.	586;666	E7EU62;Q9H694	.;BICC1_HUMAN	M	666;292	ENSP00000362993:T666M;ENSP00000263103:T292M	ENSP00000263103:T292M	T	+	2	0	BICC1	60230794	1.000000	0.71417	0.988000	0.46212	0.932000	0.56968	7.412000	0.80091	2.816000	0.96949	0.561000	0.74099	ACG		0.383	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2		NM_025044		13	54	0	0	0	0.013537	0	13	54		
MAT1A	4143	broad.mit.edu	37	10	82036336	82036336	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:82036336G>T	ENST00000372213.3	-	6	824	c.564C>A	c.(562-564)taC>taA	p.Y188*	MAT1A_ENST00000485270.1_5'Flank	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	188					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TGTCCTGCATGTACTGAACTG	0.592																																						uc001kbw.2		NaN																	0					0						c.(562-564)TAC>TAA		methionine adenosyltransferase I, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						171.0	135.0	147.0					10																	82036336		2203	4300	6503	SO:0001587	stop_gained	4143				methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr10:82036336G>T		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"""S-adenosylmethionine synthetase"""	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.564C>A	10.37:g.82036336G>T	ENSP00000361287:p.Tyr188*						p.Y188*	NM_000429	NP_000420	Q00266	METK1_HUMAN	Colorectal(32;0.229)		6	819	-			188					D3DWD5|Q5QP09	Nonsense_Mutation	SNP	ENST00000372213.3	37	c.564C>A	CCDS7365.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537448	0.65085	.	.	ENSG00000151224	ENST00000372213;ENST00000372206;ENST00000455001	.	.	.	4.84	3.93	0.45458	.	0.107788	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.2376	11.1015	0.48177	0.0901:0.0:0.9099:0.0	.	.	.	.	X	188;188;125	.	ENSP00000361280:Y188X	Y	-	3	2	MAT1A	82026316	0.713000	0.27926	0.873000	0.34254	0.956000	0.61745	0.976000	0.29462	1.396000	0.46663	0.655000	0.94253	TAC		0.592	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1		NM_000429		45	105	1	0	7.05121e-23	0.010771	7.98825e-23	45	105		
TNKS2	80351	broad.mit.edu	37	10	93582057	93582057	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:93582057C>G	ENST00000371627.4	+	7	1112	c.733C>G	c.(733-735)Ctg>Gtg	p.L245V		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	245					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TTGTAGTGATCTGGTACCATT	0.328																																						uc001khp.2		NaN																	0				kidney(3)|skin(3)|ovary(1)|lung(1)	8						c.(733-735)CTG>GTG		tankyrase, TRF1-interacting ankyrin-related							195.0	177.0	183.0					10																	93582057		2203	4300	6503	SO:0001583	missense	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93582057C>G	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.733C>G	10.37:g.93582057C>G	ENSP00000360689:p.Leu245Val						p.L245V	NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN			7	1030	+		Colorectal(252;0.162)	245			ANK 5.		B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	c.733C>G	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378475	0.61735	.	.	ENSG00000107854	ENST00000371627	T	0.15952	2.38	5.34	4.43	0.53597	Ankyrin repeat-containing domain (4);	0.000000	0.44902	D	0.000407	T	0.28034	0.0691	L	0.31804	0.96	0.44603	D	0.997579	D	0.76494	0.999	D	0.91635	0.999	T	0.01661	-1.1301	10	0.42905	T	0.14	.	11.9452	0.52924	0.0:0.8547:0.0:0.1453	.	245	Q9H2K2	TNKS2_HUMAN	V	245	ENSP00000360689:L245V	ENSP00000360689:L245V	L	+	1	2	TNKS2	93572037	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.071000	0.41500	1.239000	0.43787	0.650000	0.86243	CTG		0.328	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1		NM_025235		38	116	0	0	0	0.006999	0	38	116		
SFRP5	6425	broad.mit.edu	37	10	99529459	99529459	+	Silent	SNP	G	G	A	rs144832598	byFrequency	TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:99529459G>A	ENST00000266066.3	-	2	691	c.573C>T	c.(571-573)gaC>gaT	p.D191D		NM_003015.3	NP_003006.2	Q5T4F7	SFRP5_HUMAN	secreted frizzled-related protein 5	191	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cell differentiation (GO:0030154)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|establishment or maintenance of cell polarity (GO:0007163)|gonad development (GO:0008406)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of Wnt signaling pathway involved in digestive tract morphogenesis (GO:2000057)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|post-anal tail morphogenesis (GO:0036342)|signal transduction (GO:0007165)|vasculature development (GO:0001944)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			large_intestine(1)|lung(4)	5		Colorectal(252;0.234)		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)		CCATGAGGCCGTCAGCACTGT	0.602													G|||	4	0.000798722	0.0	0.0014	5008	,	,		16946	0.0		0.001	False		,,,				2504	0.002					uc001kor.3		NaN																	0				lung(1)	1						c.(571-573)GAC>GAT		secreted frizzled-related protein 5 precursor		G		4,4402	8.1+/-20.4	0,4,2199	63.0	50.0	54.0		573	-10.1	0.1	10	dbSNP_134	54	42,8558	27.4+/-76.7	0,42,4258	no	coding-synonymous	SFRP5	NM_003015.3		0,46,6457	AA,AG,GG		0.4884,0.0908,0.3537		191/318	99529459	46,12960	2203	4300	6503	SO:0001819	synonymous_variant	6425				apoptosis|brain development|cell differentiation|embryo development|establishment or maintenance of cell polarity|gonad development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of protein kinase B signaling cascade|negative regulation of sequence-specific DNA binding transcription factor activity|vasculature development|visual perception	cytoplasm|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:99529459G>A	AF017988	CCDS7472.1	10q24	2008-07-10			ENSG00000120057	ENSG00000120057		"""Secreted frizzled-related proteins"""	10779	protein-coding gene	gene with protein product	"""secreted apoptosis related protein 3"""	604158				9391078	Standard	NM_003015		Approved	SARP3	uc001kor.4	Q5T4F7	OTTHUMG00000018866	ENST00000266066.3:c.573C>T	10.37:g.99529459G>A							p.D191D	NM_003015	NP_003006	Q5T4F7	SFRP5_HUMAN		Epithelial(162;4.98e-10)|all cancers(201;3.58e-08)	2	739	-		Colorectal(252;0.234)	191			NTR.		O14780|Q86TH7	Silent	SNP	ENST00000266066.3	37	c.573C>T	CCDS7472.1																																																																																				0.602	SFRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049742.1		NM_003015		3	21	0	0	0	0.009096	0	3	21		
SEC31B	25956	broad.mit.edu	37	10	102262099	102262099	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:102262099A>G	ENST00000370345.3	-	11	1419	c.1322T>C	c.(1321-1323)tTg>tCg	p.L441S	SEC31B_ENST00000451524.1_Missense_Mutation_p.L441S|SEC31B_ENST00000494350.1_5'Flank	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	441					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TCCTGATCCCAAGGCCTCCTG	0.517																																						uc001krc.1		NaN																	0				ovary(1)	1						c.(1321-1323)TTG>TCG		SEC31 homolog B							106.0	97.0	100.0					10																	102262099		2203	4300	6503	SO:0001583	missense	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102262099A>G	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1322T>C	10.37:g.102262099A>G	ENSP00000359370:p.Leu441Ser					SEC31B_uc010qpo.1_Missense_Mutation_p.L440S|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_Missense_Mutation_p.L10S	p.L441S	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	11	1424	-		Colorectal(252;0.117)	441					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	c.1322T>C	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	a	15.89	2.966079	0.53507	.	.	ENSG00000075826	ENST00000370345;ENST00000451524	T;T	0.62105	0.32;0.05	5.39	5.39	0.77823	.	0.065979	0.64402	D	0.000008	T	0.81494	0.4834	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.99	D	0.85109	0.0962	10	0.87932	D	0	-8.7531	14.5859	0.68322	1.0:0.0:0.0:0.0	.	440;441	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	S	441	ENSP00000359370:L441S;ENSP00000391178:L441S	ENSP00000359370:L441S	L	-	2	0	SEC31B	102252089	1.000000	0.71417	0.998000	0.56505	0.075000	0.17131	8.939000	0.92951	2.049000	0.60858	0.398000	0.26397	TTG		0.517	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1		NM_015490		32	72	0	0	0	0.008361	0	32	72		
FAM178A	55719	broad.mit.edu	37	10	102676648	102676648	+	Missense_Mutation	SNP	G	G	C	rs564996877		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:102676648G>C	ENST00000238961.4	+	3	1048	c.506G>C	c.(505-507)cGa>cCa	p.R169P	FAM178A_ENST00000370271.3_Missense_Mutation_p.R169P|FAM178A_ENST00000370269.3_Missense_Mutation_p.R169P	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	169						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											AAAAAACATCGATCCCCAGAG	0.383																																						uc001krt.3		NaN																	0					0						c.(505-507)CGA>CCA		hypothetical protein LOC55719 isoform 1							58.0	58.0	58.0					10																	102676648		2203	4300	6503	SO:0001583	missense	55719							g.chr10:102676648G>C	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.506G>C	10.37:g.102676648G>C	ENSP00000238961:p.Arg169Pro					FAM178A_uc001krr.1_Missense_Mutation_p.R169P|FAM178A_uc001krs.2_Missense_Mutation_p.R169P|FAM178A_uc001kru.1_Missense_Mutation_p.R105P	p.R169P	NM_018121	NP_060591	Q8IX21	F178A_HUMAN			3	1048	+			169					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.506G>C	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	G	5.982	0.365079	0.11296	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.54071	0.59;1.24;1.23	5.84	-3.49	0.04724	.	1.057950	0.07426	N	0.894930	T	0.28896	0.0717	N	0.08118	0	0.09310	N	1	B;B;B	0.12013	0.001;0.001;0.005	B;B;B	0.14578	0.003;0.003;0.011	T	0.23655	-1.0182	10	0.45353	T	0.12	0.0445	7.9306	0.29899	0.5862:0.1197:0.2941:0.0	.	169;169;169	Q8IX21;B1AL17;B1AL16	F178A_HUMAN;.;.	P	169	ENSP00000359294:R169P;ENSP00000238961:R169P;ENSP00000359292:R169P	ENSP00000238961:R169P	R	+	2	0	FAM178A	102666638	0.000000	0.05858	0.308000	0.25141	0.188000	0.23474	-0.212000	0.09319	-0.425000	0.07371	-0.140000	0.14226	CGA		0.383	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3				29	59	0	0	0	0.005443	0	29	59		
SLK	9748	broad.mit.edu	37	10	105779625	105779625	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:105779625G>T	ENST00000369755.3	+	16	3811	c.3266G>T	c.(3265-3267)aGt>aTt	p.S1089I	SLK_ENST00000335753.4_Missense_Mutation_p.S1058I	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1089					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTTAAGAAGAGTTTGAGAATT	0.378																																					NSCLC(111;540 1651 1927 4474 17706)	uc001kxo.1		NaN																	0				ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8						c.(3265-3267)AGT>ATT		serine/threonine kinase 2							109.0	108.0	108.0					10																	105779625		2203	4300	6503	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105779625G>T		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.3266G>T	10.37:g.105779625G>T	ENSP00000358770:p.Ser1089Ile					SLK_uc001kxp.1_Missense_Mutation_p.S1058I	p.S1089I	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	16	3300	+		Colorectal(252;0.178)	1089					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.3266G>T	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908810	0.92107	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.37584	1.19;1.19	5.86	5.86	0.93980	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.68247	0.2980	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72394	-0.4307	10	0.87932	D	0	.	20.1951	0.98241	0.0:0.0:1.0:0.0	.	1058;1089	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	I	1058;1089	ENSP00000336824:S1058I;ENSP00000358770:S1089I	ENSP00000336824:S1058I	S	+	2	0	SLK	105769615	1.000000	0.71417	0.991000	0.47740	0.777000	0.43975	9.869000	0.99810	2.780000	0.95670	0.585000	0.79938	AGT		0.378	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1		NM_014720		43	95	1	0	8.72198e-27	0.01441	1.00141e-26	43	95		
PDZD8	118987	broad.mit.edu	37	10	119043391	119043391	+	Silent	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:119043391G>C	ENST00000334464.5	-	5	3092	c.2853C>G	c.(2851-2853)gtC>gtG	p.V951V	PDZD8_ENST00000482496.1_5'Flank	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	951					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GAGTTTTAGAGACTTGACGCA	0.433																																						uc001lde.1		NaN																	0					0						c.(2851-2853)GTC>GTG		PDZ domain containing 8							208.0	213.0	211.0					10																	119043391		2203	4300	6503	SO:0001819	synonymous_variant	118987				intracellular signal transduction		metal ion binding	g.chr10:119043391G>C	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.2853C>G	10.37:g.119043391G>C							p.V951V	NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	3052	-		Colorectal(252;0.19)	951					Q86WE0|Q86WE5|Q9UFF1	Silent	SNP	ENST00000334464.5	37	c.2853C>G	CCDS7600.1																																																																																				0.433	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1		NM_173791		81	218	0	0	0	0.01441	0	81	218		
EBF3	253738	broad.mit.edu	37	10	131761227	131761227	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr10:131761227G>C	ENST00000355311.5	-	3	406	c.334C>G	c.(334-336)Ctc>Gtc	p.L112V	EBF3_ENST00000368648.3_Missense_Mutation_p.L112V			Q9H4W6	COE3_HUMAN	early B-cell factor 3	112					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		AATAACTGGAGTTTATAGTGG	0.507																																						uc001lki.1		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(334-336)CTC>GTC		early B-cell factor 3							205.0	197.0	200.0					10																	131761227		2203	4300	6503	SO:0001583	missense	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131761227G>C		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.334C>G	10.37:g.131761227G>C	ENSP00000347463:p.Leu112Val					EBF3_uc010qur.1_3'UTR	p.L112V	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	3	393	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	112					A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37	c.334C>G		.	.	.	.	.	.	.	.	.	.	G	9.430	1.085412	0.20390	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.59083	0.29;0.29	5.42	4.51	0.55191	.	0.000000	0.64402	D	0.000001	T	0.56601	0.1996	L	0.55743	1.74	0.80722	D	1	B	0.20887	0.049	B	0.30782	0.12	T	0.54002	-0.8358	10	0.37606	T	0.19	-17.0748	15.1572	0.72752	0.0:0.0:0.8575:0.1425	.	112	Q9H4W6-2	.	V	112	ENSP00000347463:L112V;ENSP00000357637:L112V	ENSP00000347463:L112V	L	-	1	0	EBF3	131651217	1.000000	0.71417	0.847000	0.33407	0.081000	0.17604	9.869000	0.99810	1.268000	0.44264	-0.188000	0.12872	CTC		0.507	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2		NM_001005463		21	67	0	0	0	0.014323	0	21	67		
CTSD	1509	broad.mit.edu	37	11	1782613	1782613	+	Missense_Mutation	SNP	C	C	T	rs143517230|rs35855065	byFrequency	TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:1782613C>T	ENST00000236671.2	-	2	286	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	AC068580.6_ENST00000449248.1_RNA|AC068580.1_ENST00000580120.1_RNA|RP11-295K3.1_ENST00000427721.1_5'Flank|AC068580.5_ENST00000446489.1_RNA	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	52					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TACTTTGAGACGGGGCCTTTG	0.612													C|||	2	0.000399361	0.0	0.0014	5008	,	,		15842	0.001		0.0	False		,,,				2504	0.0					uc001luc.1		NaN																	0					0						c.(154-156)GTC>ATC		cathepsin D preproprotein	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	C	ILE/VAL	2,4402	4.2+/-10.8	0,2,2200	67.0	67.0	67.0		154	-7.4	0.0	11	dbSNP_134	67	1,8597	1.2+/-3.3	0,1,4298	yes	missense	CTSD	NM_001909.4	29	0,3,6498	TT,TC,CC		0.0116,0.0454,0.0231	benign	52/413	1782613	3,12999	2202	4299	6501	SO:0001583	missense	1509				cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	g.chr11:1782613C>T	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"""Cathepsins"""	2529	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 10"""	116840	"""cathepsin D (lysosomal aspartyl protease)"""	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.154G>A	11.37:g.1782613C>T	ENSP00000236671:p.Val52Ile					CTSD_uc009yda.1_RNA	p.V52I	NM_001909	NP_001900	P07339	CATD_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	2	287	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	52					Q6IB57	Missense_Mutation	SNP	ENST00000236671.2	37	c.154G>A	CCDS7725.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	3.270	-0.149265	0.06585	4.54E-4	1.16E-4	ENSG00000117984	ENST00000236671;ENST00000438213;ENST00000367196	T;T;T	0.63255	0.59;0.82;-0.03	3.71	-7.43	0.01383	Peptidase aspartic (1);	1.637160	0.04689	N	0.413738	T	0.37625	0.1010	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14839	-1.0458	10	0.21014	T	0.42	.	5.8243	0.18544	0.109:0.2085:0.5494:0.1331	.	52	P07339	CATD_HUMAN	I	52;37;17	ENSP00000236671:V52I;ENSP00000415036:V37I;ENSP00000356164:V17I	ENSP00000236671:V52I	V	-	1	0	CTSD	1739189	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.274000	0.08537	-1.628000	0.01548	-1.394000	0.01149	GTC		0.612	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5		NM_001909		19	23	0	0	0	0.007413	0	19	23		
NUP98	4928	broad.mit.edu	37	11	3794940	3794940	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:3794940T>G	ENST00000324932.7	-	6	945	c.525A>C	c.(523-525)aaA>aaC	p.K175N	NUP98_ENST00000397007.4_Missense_Mutation_p.K175N|NUP98_ENST00000397004.4_Missense_Mutation_p.K175N|NUP98_ENST00000355260.3_Missense_Mutation_p.K175N|NUP98_ENST00000359171.4_Missense_Mutation_p.K175N	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	175	GLEBS; interaction with RAE1.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TAACTCCAGCTTTGACCATAG	0.368			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	uc001lyh.2		NaN		Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11		AML		0				breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12						c.(523-525)AAA>AAC		nucleoporin 98kD isoform 1							121.0	103.0	109.0					11																	3794940		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3794940T>G	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.525A>C	11.37:g.3794940T>G	ENSP00000316032:p.Lys175Asn					NUP98_uc001lyi.2_Missense_Mutation_p.K175N|NUP98_uc001lyj.1_Missense_Mutation_p.K175N|NUP98_uc001lyk.1_Missense_Mutation_p.K175N|NUP98_uc010qxv.1_Missense_Mutation_p.K138N	p.K175N	NM_016320	NP_057404	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	6	816	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	175			Gly/Thr-rich.		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.525A>C	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.018016	0.75275	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	5.79	3.51	0.40186	.	0.000000	0.85682	D	0.000000	T	0.71290	0.3322	M	0.80183	2.485	0.43168	D	0.994968	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.996;0.994;0.999;0.999	T	0.69191	-0.5210	9	0.23302	T	0.38	.	7.8826	0.29631	0.0:0.2175:0.0:0.7825	.	175;175;175;175;175	P52948;P52948-3;P52948-4;P52948-2;P52948-5	NUP98_HUMAN;.;.;.;.	N	175	.	ENSP00000316032:K175N	K	-	3	2	NUP98	3751516	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.818000	0.27295	1.024000	0.39682	-0.263000	0.10527	AAA		0.368	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3		NM_016320		11	23	0	0	0	0.00245	0	11	23		
OR10A5	144124	broad.mit.edu	37	11	6866955	6866955	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:6866955C>T	ENST00000299454.4	+	1	73	c.42C>T	c.(40-42)ctC>ctT	p.L14L	OR10A5_ENST00000379831.2_Silent_p.L18L			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	14					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AATTTATCCTCATGAGCTTCT	0.413																																					Pancreas(44;21 1072 25662 28041 45559)	uc001met.1		NaN																	0				skin(2)|ovary(1)	3						c.(40-42)CTC>CTT		olfactory receptor, family 10, subfamily A,							168.0	176.0	173.0					11																	6866955		2201	4296	6497	SO:0001819	synonymous_variant	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6866955C>T	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.42C>T	11.37:g.6866955C>T							p.L14L	NM_178168	NP_835462	Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	42	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	14			Extracellular (Potential).		O95223|Q52M66|Q96R21|Q96R22	Silent	SNP	ENST00000299454.4	37	c.42C>T	CCDS7773.1																																																																																				0.413	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1		NM_178168		95	125	0	0	0	0.01441	0	95	125		
OR10V1	390201	broad.mit.edu	37	11	59480630	59480630	+	Missense_Mutation	SNP	C	C	T	rs559488515		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:59480630C>T	ENST00000307552.2	-	1	707	c.689G>A	c.(688-690)cGg>cAg	p.R230Q	STX3_ENST00000300150.7_5'Flank	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						TTCTGCTGACCGGATCCGTAA	0.502																																						uc001nof.1		NaN																	0					0						c.(688-690)CGG>CAG		olfactory receptor, family 10, subfamily V,							89.0	80.0	83.0					11																	59480630		2201	4295	6496	SO:0001583	missense	390201				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59480630C>T	AB065807	CCDS31565.1	11q12.1	2012-08-09			ENSG00000172289	ENSG00000172289		"""GPCR / Class A : Olfactory receptors"""	15136	protein-coding gene	gene with protein product							Standard	NM_001005324		Approved		uc001nof.1	Q8NGI7	OTTHUMG00000167406	ENST00000307552.2:c.689G>A	11.37:g.59480630C>T	ENSP00000302199:p.Arg230Gln						p.R230Q	NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN			1	689	-			230			Cytoplasmic (Potential).		Q6IFD9|Q96R50	Missense_Mutation	SNP	ENST00000307552.2	37	c.689G>A	CCDS31565.1	.	.	.	.	.	.	.	.	.	.	C	6.014	0.370995	0.11409	.	.	ENSG00000172289	ENST00000307552	T	0.37915	1.17	4.47	-3.8	0.04307	GPCR, rhodopsin-like superfamily (1);	0.890957	0.09391	N	0.808602	T	0.21307	0.0513	L	0.33485	1.01	0.09310	N	1	B	0.24368	0.102	B	0.20767	0.031	T	0.29427	-1.0012	10	0.17369	T	0.5	.	7.6692	0.28449	0.0:0.2679:0.1279:0.6042	.	230	Q8NGI7	O10V1_HUMAN	Q	230	ENSP00000302199:R230Q	ENSP00000302199:R230Q	R	-	2	0	OR10V1	59237206	0.000000	0.05858	0.116000	0.21606	0.861000	0.49209	-2.712000	0.00817	-0.916000	0.03818	-0.327000	0.08410	CGG		0.502	OR10V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394517.1		NM_001005324		36	66	0	0	0	0.004289	0	36	66		
GAB2	9846	broad.mit.edu	37	11	77991880	77991880	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:77991880T>C	ENST00000361507.4	-	2	228	c.143A>G	c.(142-144)tAc>tGc	p.Y48C	GAB2_ENST00000340149.2_Missense_Mutation_p.Y10C|GAB2_ENST00000526030.1_5'UTR	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	48	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GTTCTTGTAGTATTCCAGAAC	0.507																																						uc001ozh.2		NaN																	0				ovary(5)|lung(1)	6						c.(142-144)TAC>TGC		GRB2-associated binding protein 2 isoform a							109.0	106.0	107.0					11																	77991880		2200	4292	6492	SO:0001583	missense	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77991880T>C	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.143A>G	11.37:g.77991880T>C	ENSP00000354952:p.Tyr48Cys					GAB2_uc001ozg.2_Missense_Mutation_p.Y10C	p.Y48C	NM_080491	NP_536739	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		2	143	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		48			PH.		A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	c.143A>G	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.604030	0.87157	.	.	ENSG00000033327	ENST00000340149;ENST00000361507;ENST00000528886;ENST00000530915	D;T;D;T	0.82433	-1.61;1.95;-1.61;-1.07	5.37	5.37	0.77165	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	U	0.000003	D	0.92808	0.7713	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94367	0.7592	10	0.87932	D	0	-14.8306	15.6753	0.77311	0.0:0.0:0.0:1.0	.	48	Q9UQC2	GAB2_HUMAN	C	10;48;10;10	ENSP00000343959:Y10C;ENSP00000354952:Y48C;ENSP00000433762:Y10C;ENSP00000431868:Y10C	ENSP00000343959:Y10C	Y	-	2	0	GAB2	77669528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.155000	0.67459	0.460000	0.39030	TAC		0.507	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1		NM_080491		38	71	0	0	0	0.004878	0	38	71		
GRM5	2915	broad.mit.edu	37	11	88301116	88301116	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:88301116C>T	ENST00000305447.4	-	7	1884	c.1735G>A	c.(1735-1737)Gaa>Aaa	p.E579K	GRM5_ENST00000393297.1_Missense_Mutation_p.E579K|GRM5_ENST00000305432.5_Missense_Mutation_p.E579K|GRM5_ENST00000455756.2_Missense_Mutation_p.E579K|GRM5_ENST00000418177.2_Missense_Mutation_p.E579K	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	579					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	GCAATGGGTTCAGGGTCACCC	0.488																																						uc001pcq.2		NaN																	0				central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(1735-1737)GAA>AAA		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						64.0	60.0	61.0					11																	88301116		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88301116C>T	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1735G>A	11.37:g.88301116C>T	ENSP00000306138:p.Glu579Lys					GRM5_uc009yvm.2_Missense_Mutation_p.E579K	p.E579K	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			7	1935	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	579			Extracellular (Potential).		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.1735G>A	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.638753	0.67130	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.88124	-2.3;-2.31;-2.31;-2.3;-2.34	5.71	5.71	0.89125	GPCR, family 3, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93174	0.7826	M	0.71036	2.16	0.47862	D	0.999534	D;D	0.71674	0.998;0.993	D;P	0.78314	0.991;0.757	D	0.92194	0.5762	9	.	.	.	.	19.8631	0.96790	0.0:1.0:0.0:0.0	.	579;579	P41594-2;P41594	.;GRM5_HUMAN	K	579	ENSP00000402912:E579K;ENSP00000405690:E579K;ENSP00000305905:E579K;ENSP00000306138:E579K;ENSP00000376975:E579K	.	E	-	1	0	GRM5	87940764	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.920000	0.70017	2.709000	0.92574	0.655000	0.94253	GAA		0.488	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1		NM_000842		16	25	0	0	0	0.004007	0	16	25		
ATM	472	broad.mit.edu	37	11	108122624	108122624	+	Silent	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:108122624A>G	ENST00000452508.2	+	12	1857	c.1668A>G	c.(1666-1668)aaA>aaG	p.K556K	ATM_ENST00000278616.4_Silent_p.K556K			Q13315	ATM_HUMAN	ATM serine/threonine kinase	556					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GAACGGTAAAAATGGGAATAG	0.358			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NaN	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(1666-1668)AAA>AAG	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							128.0	123.0	125.0					11																	108122624		2201	4298	6499	SO:0001819	synonymous_variant	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108122624A>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1668A>G	11.37:g.108122624A>G		TSP Lung(14;0.12)				ATM_uc009yxr.1_Silent_p.K556K	p.K556K	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	11	2053	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	556					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	c.1668A>G	CCDS31669.1																																																																																				0.358	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1		NM_000051		49	65	0	0	0	0.01441	0	49	65		
GRIK4	2900	broad.mit.edu	37	11	120531041	120531041	+	Missense_Mutation	SNP	C	C	T	rs138617238		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:120531041C>T	ENST00000527524.2	+	3	301	c.14C>T	c.(13-15)tCg>tTg	p.S5L	GRIK4_ENST00000438375.2_Missense_Mutation_p.S5L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	5					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CCCCGCGTCTCGGCGCCTTTG	0.647											OREG0021424	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pxn.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(13-15)TCG>TTG		glutamate receptor KA1 precursor	L-Glutamic Acid(DB00142)	C	LEU/SER	0,4406		0,0,2203	69.0	62.0	64.0		14	-0.9	1.0	11	dbSNP_134	64	1,8597	1.2+/-3.3	0,1,4298	no	missense	GRIK4	NM_014619.2	145	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	5/957	120531041	1,13003	2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120531041C>T	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.14C>T	11.37:g.120531041C>T	ENSP00000435648:p.Ser5Leu		OREG0021424	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1504	GRIK4_uc009zav.1_Missense_Mutation_p.S5L|GRIK4_uc009zaw.1_Missense_Mutation_p.S5L|GRIK4_uc009zax.1_Missense_Mutation_p.S5L	p.S5L	NM_014619	NP_055434	Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	3	301	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	5					A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.14C>T	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.744123	0.49151	0.0	1.16E-4	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.10763	2.84;2.84	5.28	-0.922	0.10468	.	0.745621	0.11888	N	0.519895	T	0.04048	0.0113	N	0.08118	0	0.25361	N	0.988785	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46624	-0.9178	10	0.11485	T	0.65	.	5.6298	0.17504	0.0:0.2018:0.5161:0.2821	.	5;5	A6H8K8;Q16099	.;GRIK4_HUMAN	L	5	ENSP00000435648:S5L;ENSP00000404063:S5L	ENSP00000404063:S5L	S	+	2	0	GRIK4	120036251	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	0.700000	0.25601	0.009000	0.14813	-0.253000	0.11424	TCG		0.647	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4		NM_014619		10	60	0	0	0	0.008291	0	10	60		
HSPA8	3312	broad.mit.edu	37	11	122928487	122928487	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:122928487G>A	ENST00000532636.1	-	9	2015	c.1896C>T	c.(1894-1896)ccC>ccT	p.P632P	HSPA8_ENST00000533540.1_Silent_p.P486P|SNORD14E_ENST00000364009.1_RNA|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526110.1_Silent_p.P613P|HSPA8_ENST00000534319.1_Silent_p.P396P|HSPA8_ENST00000534624.1_Silent_p.P632P|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Silent_p.P632P|HSPA8_ENST00000453788.2_Silent_p.P479P			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	632					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CACCACCAGAGGGAGGAGCTC	0.512																																					Colon(21;486 594 5900 6733 14272)	uc001pyo.2		NaN																	0				central_nervous_system(7)|lung(1)	8						c.(1894-1896)CCC>CCT		heat shock 70kDa protein 8 isoform 1							88.0	93.0	92.0					11																	122928487		2202	4299	6501	SO:0001819	synonymous_variant	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122928487G>A	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1896C>T	11.37:g.122928487G>A						HSPA8_uc009zbc.2_Silent_p.P396P|HSPA8_uc001pyp.2_Silent_p.P479P|HSPA8_uc010rzu.1_Silent_p.P555P	p.P632P	NM_006597	NP_006588	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	9	1974	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	632					Q9H3R6	Silent	SNP	ENST00000532636.1	37	c.1896C>T	CCDS8440.1																																																																																				0.512	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1				14	78	0	0	0	0.00245	0	14	78		
C11orf45	219833	broad.mit.edu	37	11	128773387	128773387	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:128773387C>A	ENST00000524878.1	-	3	326	c.156G>T	c.(154-156)agG>agT	p.R52S	KCNJ5_ENST00000338350.4_Intron|C11orf45_ENST00000310799.3_Missense_Mutation_p.R52S|KCNJ5_ENST00000529694.1_Intron|C11orf45_ENST00000530168.1_5'UTR			Q8TAV5	CK045_HUMAN	chromosome 11 open reading frame 45	52						extracellular region (GO:0005576)				endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2)	7	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		TACCCTCACTCCTGACAGAGG	0.507																																						uc001qeu.2		NaN																	0					0						c.(154-156)AGG>AGT		hypothetical protein LOC219833 precursor							74.0	65.0	68.0					11																	128773387		2201	4297	6498	SO:0001583	missense	219833					extracellular region		g.chr11:128773387C>A	AK125634	CCDS8478.1	11q24.3	2012-05-30			ENSG00000174370	ENSG00000174370			28584	protein-coding gene	gene with protein product							Standard	NM_001256088		Approved	MGC35558, FLJ43646	uc001qeu.3	Q8TAV5	OTTHUMG00000165796	ENST00000524878.1:c.156G>T	11.37:g.128773387C>A	ENSP00000431922:p.Arg52Ser					KCNJ5_uc001qet.2_Intron|KCNJ5_uc009zck.2_Intron|C11orf45_uc009zcl.2_Missense_Mutation_p.R52S|C11orf45_uc001qev.2_Missense_Mutation_p.R52S	p.R52S	NM_145013	NP_659450	Q8TAV5	CK045_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)	3	350	-	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	52					B2RAD0	Missense_Mutation	SNP	ENST00000524878.1	37	c.156G>T	CCDS8478.1	.	.	.	.	.	.	.	.	.	.	C	2.524	-0.310066	0.05458	.	.	ENSG00000174370	ENST00000310799;ENST00000524878	.	.	.	2.73	-0.391	0.12446	.	.	.	.	.	T	0.13072	0.0317	N	0.08118	0	0.09310	N	1	B	0.28713	0.22	B	0.28784	0.094	T	0.29427	-1.0012	8	0.05351	T	0.99	.	4.7359	0.12988	0.0:0.416:0.4459:0.138	.	52	Q8TAV5	CK045_HUMAN	S	52	.	ENSP00000307879:R52S	R	-	3	2	C11orf45	128278597	0.001000	0.12720	0.007000	0.13788	0.005000	0.04900	0.449000	0.21744	-0.061000	0.13110	-0.165000	0.13383	AGG		0.507	C11orf45-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386243.1		NM_145013		6	42	1	0	0.00198382	0.001984	0.00201935	6	42		
DPPA3	359787	broad.mit.edu	37	12	7868804	7868804	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:7868804G>A	ENST00000345088.2	+	3	455	c.338G>A	c.(337-339)aGa>aAa	p.R113K		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	113					chromatin modification (GO:0016568)|embryonic cleavage (GO:0040016)|negative regulation of DNA demethylation (GO:1901536)|protection of DNA demethylation of female pronucleus (GO:0044726)|regulation of genetic imprinting (GO:2000653)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CATGAAAGAAGACCAACAAAC	0.299																																						uc001qtf.2		NaN																	0					0						c.(337-339)AGA>AAA		stella							47.0	53.0	51.0					12																	7868804		2203	4300	6503	SO:0001583	missense	359787					cytoplasm|nucleus		g.chr12:7868804G>A	AY317075	CCDS8582.1	12p13.31	2012-10-02			ENSG00000187569	ENSG00000187569			19199	protein-coding gene	gene with protein product		608408					Standard	NM_199286		Approved	Stella	uc001qtf.3	Q6W0C5	OTTHUMG00000168434	ENST00000345088.2:c.338G>A	12.37:g.7868804G>A	ENSP00000339250:p.Arg113Lys						p.R113K	NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN		Kidney(36;0.0887)	3	416	+			113					Q0P5U3|Q6JZS6	Missense_Mutation	SNP	ENST00000345088.2	37	c.338G>A	CCDS8582.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.281590	0.00251	.	.	ENSG00000187569	ENST00000345088	T	0.42131	0.98	2.12	-4.21	0.03812	.	.	.	.	.	T	0.13628	0.0330	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.28396	-1.0045	9	0.02654	T	1	1.3225	2.451	0.04518	0.3018:0.0:0.2864:0.4118	.	113	Q6W0C5	DPPA3_HUMAN	K	113	ENSP00000339250:R113K	ENSP00000339250:R113K	R	+	2	0	DPPA3	7760071	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.346000	0.07760	-1.043000	0.03258	-2.170000	0.00323	AGA		0.299	DPPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399718.1		NM_199286		6	20	0	0	0	0.001984	0	6	20		
CREBL2	1389	broad.mit.edu	37	12	12788795	12788795	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:12788795C>T	ENST00000228865.2	+	2	381	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	CREBL2_ENST00000540224.1_3'UTR	NM_001310.2	NP_001301.1	O60519	CRBL2_HUMAN	cAMP responsive element binding protein-like 2	34	Basic motif. {ECO:0000250}.|bZIP.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)	1		Prostate(47;0.0684)		BRCA - Breast invasive adenocarcinoma(232;0.0503)		TGAGAGGAGCCGGCAGAGTGC	0.488																																						uc001rap.1		NaN																	0					0						c.(100-102)CGG>TGG		cAMP responsive element binding protein-like 2							53.0	56.0	55.0					12																	12788795		2203	4300	6503	SO:0001583	missense	1389				cell cycle|signal transduction	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12788795C>T	AF039081	CCDS8651.1	12p13.2	2013-01-10			ENSG00000111269	ENSG00000111269		"""basic leucine zipper proteins"""	2350	protein-coding gene	gene with protein product		603476				9693048	Standard	NM_001310		Approved		uc001rap.1	O60519	OTTHUMG00000168704	ENST00000228865.2:c.100C>T	12.37:g.12788795C>T	ENSP00000228865:p.Arg34Trp					CREBL2_uc009zhv.1_5'Flank	p.R34W	NM_001310	NP_001301	O60519	CRBL2_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0503)	2	376	+		Prostate(47;0.0684)	34			Basic motif.		B5BUM5	Missense_Mutation	SNP	ENST00000228865.2	37	c.100C>T	CCDS8651.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558467	0.45590	.	.	ENSG00000111269	ENST00000228865	D	0.94828	-3.53	5.72	3.8	0.43715	Basic leucine zipper (1);	0.000000	0.85682	D	0.000000	D	0.95774	0.8625	M	0.62723	1.935	0.39620	D	0.970018	D	0.89917	1.0	D	0.83275	0.996	D	0.95600	0.8662	10	0.87932	D	0	-15.8071	8.2857	0.31928	0.2684:0.6601:0.0:0.0715	.	34	O60519	CRBL2_HUMAN	W	34	ENSP00000228865:R34W	ENSP00000228865:R34W	R	+	1	2	CREBL2	12680062	1.000000	0.71417	1.000000	0.80357	0.117000	0.20001	1.138000	0.31491	1.430000	0.47334	-0.350000	0.07774	CGG		0.488	CREBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400660.1		NM_001310		11	14	0	0	0	0.010729	0	11	14		
ARF3	377	broad.mit.edu	37	12	49334730	49334730	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:49334730C>G	ENST00000256682.4	-	2	483		c.e2+1		ARF3_ENST00000541967.1_5'Flank|ARF3_ENST00000541959.1_Splice_Site|ARF3_ENST00000447318.2_Splice_Site|AC073610.5_ENST00000537495.1_5'Flank|RP11-302B13.5_ENST00000398092.4_Splice_Site	NM_001659.2	NP_001650.1	P61204	ARF3_HUMAN	ADP-ribosylation factor 3						GTP catabolic process (GO:0006184)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|skin(1)	4						TGTGCTCTTACCAATGGTAGG	0.587																																					Pancreas(189;1862 2134 4419 30933 49364)	uc001rsr.2		NaN																	0					0						c.e2+1		ADP-ribosylation factor 3							208.0	173.0	185.0					12																	49334730		2203	4300	6503	SO:0001630	splice_region_variant	377				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity	g.chr12:49334730C>G	M74491	CCDS8774.1	12q13.12	2013-01-22			ENSG00000134287	ENSG00000134287		"""ADP-ribosylation factors"""	654	protein-coding gene	gene with protein product	"""small GTP binding protein"""	103190				8661066	Standard	NM_001659		Approved		uc001rsr.2	P61204	OTTHUMG00000168080	ENST00000256682.4:c.148+1G>C	12.37:g.49334730C>G						ARF3_uc010smc.1_Splice_Site_p.G50_splice	p.G50_splice	NM_001659	NP_001650	P61204	ARF3_HUMAN			2	401	-								A8K6G8|B7ZB63|P16587	Splice_Site	SNP	ENST00000256682.4	37	c.148_splice	CCDS8774.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365226	0.82463	.	.	ENSG00000134287	ENST00000398092;ENST00000256682;ENST00000447318;ENST00000541959;ENST00000541236;ENST00000539611	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3766	0.66881	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARF3	47620997	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	7.709000	0.84645	2.563000	0.86464	0.561000	0.74099	.		0.587	ARF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258242.2		NM_001659	Intron	56	66	0	0	0	0.01441	0	56	66		
LETMD1	25875	broad.mit.edu	37	12	51442969	51442969	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:51442969G>A	ENST00000262055.4	+	2	313		c.e2+1		LETMD1_ENST00000550929.1_Splice_Site|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000418425.2_Splice_Site|LETMD1_ENST00000548516.1_Splice_Site|LETMD1_ENST00000547008.1_Splice_Site|LETMD1_ENST00000380123.2_Splice_Site	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1							integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						TTCATGAAAGGTAAAAACGAA	0.413																																						uc001rxm.2		NaN																	0				central_nervous_system(2)	2						c.e2+1		LETM1 domain containing 1 isoform 1							73.0	69.0	71.0					12																	51442969		2203	4300	6503	SO:0001630	splice_region_variant	25875					integral to membrane|mitochondrial outer membrane	protein binding	g.chr12:51442969G>A	AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"""cervical cancer 1 protooncogene"""					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.274+1G>A	12.37:g.51442969G>A						LETMD1_uc010smz.1_Splice_Site_p.G92_splice|LETMD1_uc010sna.1_Splice_Site_p.E92_splice|LETMD1_uc001rxl.2_Splice_Site_p.G36_splice|LETMD1_uc009zlv.2_Splice_Site|LETMD1_uc001rxs.2_Splice_Site_p.E92_splice|LETMD1_uc009zlw.2_Splice_Site_p.G92_splice|LETMD1_uc001rxn.2_Splice_Site|LETMD1_uc001rxo.2_Splice_Site|LETMD1_uc001rxp.2_Intron|LETMD1_uc001rxq.2_Splice_Site_p.G92_splice|LETMD1_uc001rxr.2_Splice_Site|LETMD1_uc001rxt.2_Splice_Site	p.G92_splice	NM_015416	NP_056231	Q6P1Q0	LTMD1_HUMAN			2	330	+								A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Splice_Site	SNP	ENST00000262055.4	37	c.274_splice	CCDS8806.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331881	0.60853	.	.	ENSG00000050426	ENST00000551477;ENST00000550929;ENST00000262055;ENST00000550442;ENST00000549340;ENST00000548209;ENST00000548251;ENST00000550814;ENST00000380123;ENST00000548401;ENST00000418425;ENST00000448283;ENST00000547008;ENST00000547256	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5082	0.75757	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LETMD1	49729236	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.480000	0.66820	2.583000	0.87209	0.591000	0.81541	.		0.413	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1		NM_015416	Intron	5	34	0	0	0	0.001168	0	5	34		
KRT7	3855	broad.mit.edu	37	12	52642496	52642496	+	Silent	SNP	T	T	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:52642496T>G	ENST00000331817.5	+	9	1545	c.1362T>G	c.(1360-1362)gcT>gcG	p.A454A	KRT121P_ENST00000529785.1_RNA|KRT7_ENST00000552322.1_3'UTR|RP3-416H24.1_ENST00000546686.1_RNA|KRT86_ENST00000544024.1_5'Flank	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	454	Tail.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	TCCTGAAGGCTTATTCCATCC	0.642																																						uc001saa.1		NaN																	0					0						c.(1360-1362)GCT>GCG		keratin 7							41.0	45.0	43.0					12																	52642496		2203	4300	6503	SO:0001819	synonymous_variant	3855				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	g.chr12:52642496T>G		CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6445	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 7"", ""cytokeratin 7"", ""sarcolectin"", ""keratin, 55K type II cytoskeletal"""	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.1362T>G	12.37:g.52642496T>G						KRT86_uc010snq.1_5'Flank	p.A454A	NM_005556	NP_005547	P08729	K2C7_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.105)	9	1489	+			454			Tail.		Q92676|Q9BUD8|Q9Y3R7	Silent	SNP	ENST00000331817.5	37	c.1362T>G	CCDS8822.1																																																																																				0.642	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1		NM_005556		17	31	0	0	0	0.006122	0	17	31		
STAT6	6778	broad.mit.edu	37	12	57501482	57501482	+	Missense_Mutation	SNP	C	C	T	rs575257117		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:57501482C>T	ENST00000300134.3	-	3	486	c.161G>A	c.(160-162)aGt>aAt	p.S54N	STAT6_ENST00000454075.3_Missense_Mutation_p.S54N|STAT6_ENST00000543873.2_Missense_Mutation_p.S54N|STAT6_ENST00000538913.2_Intron|STAT6_ENST00000556155.1_Missense_Mutation_p.S54N|STAT6_ENST00000537215.2_De_novo_Start_OutOfFrame	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	54					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						AAGTAGGGCACTAGCCAAGTT	0.607													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16984	0.0		0.0	False		,,,				2504	0.0					uc009zpe.2		NaN																	0				ovary(2)|lung(1)|skin(1)	4						c.(160-162)AGT>AAT		signal transducer and activator of transcription							79.0	65.0	70.0					12																	57501482		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57501482C>T	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.161G>A	12.37:g.57501482C>T	ENSP00000300134:p.Ser54Asn					STAT6_uc009zpf.2_Missense_Mutation_p.S54N|STAT6_uc001sna.2_Missense_Mutation_p.S54N|STAT6_uc010srb.1_Translation_Start_Site|STAT6_uc010src.1_Intron|STAT6_uc010srd.1_Intron|STAT6_uc009zpg.2_Missense_Mutation_p.S103N	p.S54N	NM_003153	NP_003144	P42226	STAT6_HUMAN			3	412	-			54					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.161G>A	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846501	0.51164	.	.	ENSG00000166888	ENST00000300134;ENST00000543873;ENST00000556155;ENST00000454075;ENST00000542516;ENST00000555849;ENST00000556259;ENST00000553499;ENST00000553397;ENST00000554663;ENST00000554825;ENST00000557635;ENST00000553275	T;T;T;T;T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	4.88	4.88	0.63580	STAT transcription factor, protein interaction (4);	0.190834	0.48767	D	0.000178	T	0.34279	0.0892	L	0.27053	0.805	0.80722	D	1	B;B	0.33883	0.43;0.288	B;B	0.31869	0.137;0.1	T	0.15464	-1.0436	10	0.34782	T	0.22	-16.5843	13.4016	0.60887	0.0:1.0:0.0:0.0	.	54;54	A8K4S9;P42226	.;STAT6_HUMAN	N	54	ENSP00000300134:S54N;ENSP00000438451:S54N;ENSP00000451742:S54N;ENSP00000401486:S54N;ENSP00000452394:S54N;ENSP00000452373:S54N;ENSP00000451074:S54N;ENSP00000452203:S54N;ENSP00000450665:S54N;ENSP00000451209:S54N;ENSP00000450747:S54N;ENSP00000450732:S54N	ENSP00000300134:S54N	S	-	2	0	STAT6	55787749	0.037000	0.19845	0.800000	0.32199	0.955000	0.61496	1.970000	0.40520	2.532000	0.85374	0.655000	0.94253	AGT		0.607	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3		NM_003153		5	44	0	0	0	0.001984	0	5	44		
LRP1	4035	broad.mit.edu	37	12	57556105	57556105	+	Silent	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:57556105G>T	ENST00000243077.3	+	14	2674	c.2208G>T	c.(2206-2208)gtG>gtT	p.V736V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	736					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTAGATTGTGTATGAAGGTC	0.488																																						uc001snd.2		NaN																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(2206-2208)GTG>GTT		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						188.0	159.0	169.0					12																	57556105		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57556105G>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2208G>T	12.37:g.57556105G>T							p.V736V	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	14	2674	+			736			LDL-receptor class B 7.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.2208G>T	CCDS8932.1																																																																																				0.488	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2		NM_002332		33	85	1	0	1.45844e-13	0.013726	1.60428e-13	33	85		
NUP107	57122	broad.mit.edu	37	12	69113358	69113358	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:69113358G>C	ENST00000229179.4	+	14	1507	c.1175G>C	c.(1174-1176)gGa>gCa	p.G392A	NUP107_ENST00000539906.1_Splice_Site_p.G363A|NUP107_ENST00000378905.2_Splice_Site_p.G241A	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	392					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TATTTTATAGGAACAGAATTA	0.308																																						uc001suf.2		NaN																	0				skin(1)	1						c.(1174-1176)GGA>GCA		nucleoporin 107kDa							38.0	43.0	42.0					12																	69113358		2193	4296	6489	SO:0001630	splice_region_variant	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69113358G>C	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1175-1G>C	12.37:g.69113358G>C						NUP107_uc001sug.2_Missense_Mutation_p.G239A|NUP107_uc010stj.1_Missense_Mutation_p.G363A	p.G392A	NM_020401	NP_065134	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		14	1290	+	Breast(13;6.25e-06)		392					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.1175G>C	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809086	0.31961	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.4	3.54	0.40534	.	0.146383	0.64402	D	0.000009	T	0.44850	0.1313	L	0.47078	1.49	0.53005	D	0.999968	P;B;P	0.40681	0.727;0.014;0.6	B;B;B	0.39935	0.314;0.05;0.314	T	0.26950	-1.0088	8	.	.	.	.	11.1596	0.48507	0.0698:0.129:0.8012:0.0	.	363;241;392	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	A	392;241;363	.	.	G	+	2	0	NUP107	67399625	1.000000	0.71417	0.994000	0.49952	0.801000	0.45260	7.126000	0.77201	0.752000	0.32923	0.484000	0.47621	GGA		0.308	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1		NM_020401	Missense_Mutation	12	34	0	0	0	0.013537	0	12	34		
TMTC2	160335	broad.mit.edu	37	12	83324287	83324287	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:83324287T>C	ENST00000321196.3	+	4	2268	c.1561T>C	c.(1561-1563)Tac>Cac	p.Y521H	TMTC2_ENST00000548305.1_Missense_Mutation_p.Y521H|TMTC2_ENST00000549919.1_Missense_Mutation_p.Y515H	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	521					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						AAATGCTTTGTACTACCGCAG	0.418																																						uc001szt.2		NaN																	0				ovary(2)	2						c.(1561-1563)TAC>CAC		transmembrane and tetratricopeptide repeat							154.0	133.0	140.0					12																	83324287		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83324287T>C	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.1561T>C	12.37:g.83324287T>C	ENSP00000322300:p.Tyr521His					TMTC2_uc001szr.1_Missense_Mutation_p.Y521H|TMTC2_uc001szs.1_Missense_Mutation_p.Y521H|TMTC2_uc010suk.1_Missense_Mutation_p.Y276H	p.Y521H	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN			4	1993	+			521			TPR 2.		B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.1561T>C	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	T	10.74	1.434744	0.25813	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.59083	0.29;0.29;0.29	5.85	5.85	0.93711	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.227175	0.47093	D	0.000247	T	0.36690	0.0976	N	0.02916	-0.46	0.41767	D	0.989745	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.003;0.005;0.002	T	0.25433	-1.0132	10	0.49607	T	0.09	-9.3289	16.2473	0.82450	0.0:0.0:0.0:1.0	.	521;276;521	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	H	521;521;515;276	ENSP00000322300:Y521H;ENSP00000448292:Y521H;ENSP00000447609:Y515H	ENSP00000322300:Y521H	Y	+	1	0	TMTC2	81848418	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.755000	0.62198	2.238000	0.73509	0.533000	0.62120	TAC		0.418	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1		NM_152588		17	28	0	0	0	0.007413	0	17	28		
LRRIQ1	84125	broad.mit.edu	37	12	85450778	85450778	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:85450778A>T	ENST00000393217.2	+	8	2268	c.2207A>T	c.(2206-2208)tAt>tTt	p.Y736F		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	736										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACCCTTCTATATTCTATTGAA	0.333																																						uc001tac.2		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2206-2208)TAT>TTT		leucine-rich repeats and IQ motif containing 1							198.0	219.0	212.0					12																	85450778		2203	4299	6502	SO:0001583	missense	84125							g.chr12:85450778A>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2207A>T	12.37:g.85450778A>T	ENSP00000376910:p.Tyr736Phe					LRRIQ1_uc001tab.1_Missense_Mutation_p.Y736F|LRRIQ1_uc001taa.1_Missense_Mutation_p.Y711F	p.Y736F	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	2318	+			736					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.2207A>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	A	6.542	0.468294	0.12461	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.50277	0.75	5.66	0.411	0.16392	.	1.046040	0.07576	N	0.919402	T	0.25568	0.0622	N	0.08118	0	0.09310	N	1	B;B	0.23891	0.0;0.093	B;B	0.23018	0.0;0.043	T	0.23691	-1.0181	10	0.52906	T	0.07	.	4.4145	0.11450	0.3928:0.3713:0.0:0.236	.	736;711	Q96JM4;C9JI57	LRIQ1_HUMAN;.	F	736;711;736	ENSP00000376910:Y736F	ENSP00000256007:Y736F	Y	+	2	0	LRRIQ1	83974909	0.015000	0.18098	0.016000	0.15963	0.037000	0.13140	0.503000	0.22610	0.069000	0.16605	-0.254000	0.11334	TAT		0.333	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2		NM_032165		72	263	0	0	0	0.01441	0	72	263		
GALNT4	8693	broad.mit.edu	37	12	89917268	89917268	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:89917268C>A	ENST00000529983.2	-	1	1315	c.1059G>T	c.(1057-1059)gaG>gaT	p.E353D	GALNT4_ENST00000413530.1_Missense_Mutation_p.E181D|POC1B_ENST00000541909.1_Intron|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.E350D|POC1B_ENST00000393179.4_Intron|RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549504.1_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000549035.1_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	353	Catalytic subdomain B.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						ACGGGTGGATCTCCAATTTGC	0.522																																						uc001tbd.2		NaN																	0					0						c.(1057-1059)GAG>GAT		polypeptide N-acetylgalactosaminyltransferase 4							127.0	130.0	129.0					12																	89917268		2042	4207	6249	SO:0001583	missense	8693				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:89917268C>A	Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4126	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 4"""	603565	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"""			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.1059G>T	12.37:g.89917268C>A	ENSP00000436604:p.Glu353Asp					POC1B_uc001tba.2_Intron|POC1B_uc001tbb.2_Intron|POC1B_uc001tbc.2_Intron|POC1B_uc010sun.1_Intron|GALNT4_uc001tbe.2_Missense_Mutation_p.E350D|GALNT4_uc010suo.1_Missense_Mutation_p.E45D	p.E353D	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN			1	1268	-			353			Catalytic subdomain B.|Lumenal (Potential).		B2R775|B4DMX6|O00208	Missense_Mutation	SNP	ENST00000529983.2	37	c.1059G>T	CCDS53817.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777287	0.70107	.	.	ENSG00000259075;ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000413530;ENST00000529983	T;T;T	0.66815	-0.23;-0.23;-0.23	5.75	4.86	0.63082	.	.	.	.	.	D	0.83538	0.5276	M	0.92833	3.35	0.42447	D	0.992737	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.986	D	0.85594	0.1248	9	0.62326	D	0.03	.	8.7737	0.34749	0.153:0.7654:0.0:0.0816	.	350;353	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	D	350;181;353	ENSP00000447852:E350D;ENSP00000389686:E181D;ENSP00000436604:E353D	ENSP00000436604:E353D	E	-	3	2	GALNT4;RP11-1109F11.4	88441399	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.173000	0.42472	1.420000	0.47138	0.585000	0.79938	GAG		0.522	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2		NM_003774		23	125	1	0	1.73308e-25	0.012319	1.97653e-25	23	125		
ATP2B1	490	broad.mit.edu	37	12	90013790	90013790	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:90013790C>G	ENST00000428670.3	-	11	2271	c.1815G>C	c.(1813-1815)gaG>gaC	p.E605D	ATP2B1_ENST00000393164.2_Missense_Mutation_p.E348D|ATP2B1_ENST00000261173.2_Missense_Mutation_p.E605D|ATP2B1_ENST00000359142.3_Missense_Mutation_p.E605D|ATP2B1_ENST00000348959.3_Missense_Mutation_p.E605D			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	605					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TCAGAATTATCTCAGATGCAC	0.343																																						uc001tbh.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1813-1815)GAG>GAC		plasma membrane calcium ATPase 1 isoform 1b							88.0	89.0	89.0					12																	90013790		2203	4300	6503	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90013790C>G	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.1815G>C	12.37:g.90013790C>G	ENSP00000392043:p.Glu605Asp					ATP2B1_uc001tbg.2_Missense_Mutation_p.E605D|ATP2B1_uc001tbf.2_Missense_Mutation_p.E275D	p.E605D	NM_001682	NP_001673	P20020	AT2B1_HUMAN			10	1996	-			605			Cytoplasmic (Potential).		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.1815G>C	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560123	0.65538	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	5.48	1.68	0.24146	.	0.000000	0.85682	D	0.000000	D	0.84361	0.5455	M	0.65677	2.01	0.54753	D	0.999985	D;D;D	0.89917	0.996;1.0;0.997	D;D;P	0.87578	0.987;0.998;0.873	T	0.82655	-0.0350	10	0.87932	D	0	-9.935	9.9874	0.41849	0.0:0.7277:0.0:0.2723	.	605;605;605	P20020-3;P20020-2;P20020-6	.;.;.	D	605;605;605;605;348	ENSP00000261173:E605D;ENSP00000343599:E605D;ENSP00000352054:E605D;ENSP00000392043:E605D;ENSP00000376869:E348D	ENSP00000261173:E605D	E	-	3	2	ATP2B1	88537921	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	1.003000	0.29809	0.040000	0.15660	0.467000	0.42956	GAG		0.343	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1		NM_001682		32	57	0	0	0	0.012213	0	32	57		
BTBD11	121551	broad.mit.edu	37	12	107713306	107713306	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:107713306G>T	ENST00000280758.5	+	1	1117	c.589G>T	c.(589-591)Gac>Tac	p.D197Y	BTBD11_ENST00000420571.2_Missense_Mutation_p.D197Y|BTBD11_ENST00000490090.2_Missense_Mutation_p.D197Y	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	197						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CGCCGGCGGCGACCGCCTGGG	0.721																																						uc001tmk.1		NaN																	0				skin(2)|ovary(1)	3						c.(589-591)GAC>TAC		BTB (POZ) domain containing 11 isoform a							4.0	5.0	5.0					12																	107713306		2029	4002	6031	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:107713306G>T	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.589G>T	12.37:g.107713306G>T	ENSP00000280758:p.Asp197Tyr					BTBD11_uc009zut.1_Missense_Mutation_p.D197Y|BTBD11_uc001tmj.2_Missense_Mutation_p.D197Y	p.D197Y	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN			1	1110	+			197					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.589G>T	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913922	0.52439	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090	T;T;T	0.39056	1.1;1.15;1.14	4.74	4.74	0.60224	Histone-fold (1);	0.062170	0.64402	D	0.000010	T	0.59729	0.2215	M	0.68952	2.095	0.80722	D	1	D;D;D	0.61080	0.989;0.98;0.989	D;P;P	0.64776	0.929;0.79;0.896	T	0.63559	-0.6610	10	0.72032	D	0.01	.	13.4502	0.61167	0.0:0.1577:0.8423:0.0	.	197;197;197	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	Y	197	ENSP00000280758:D197Y;ENSP00000413889:D197Y;ENSP00000447319:D197Y	ENSP00000280758:D197Y	D	+	1	0	BTBD11	106237436	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.560000	0.82277	2.324000	0.78689	0.455000	0.32223	GAC		0.721	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1		NM_152322		3	4	1	0	0.004672	0.004672	0.00472745	3	4		
ATP2A2	488	broad.mit.edu	37	12	110783086	110783086	+	Silent	SNP	G	G	C	rs147309970		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:110783086G>C	ENST00000539276.2	+	18	2749	c.2640G>C	c.(2638-2640)ccG>ccC	p.P880P	ATP2A2_ENST00000395494.2_Silent_p.P853P|ATP2A2_ENST00000308664.6_Silent_p.P880P			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	880					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						AGGACAACCCGGACTTTGAAG	0.448																																						uc001tqk.3		NaN																	0				ovary(3)|skin(1)	4						c.(2638-2640)CCG>CCC		ATPase, Ca++ transporting, slow twitch 2 isoform							183.0	170.0	174.0					12																	110783086		2203	4300	6503	SO:0001819	synonymous_variant	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110783086G>C		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.2640G>C	12.37:g.110783086G>C						ATP2A2_uc001tql.3_Silent_p.P880P|ATP2A2_uc010sxy.1_Silent_p.P853P|ATP2A2_uc001tqn.3_5'Flank|ATP2A2_uc009zvn.2_5'Flank	p.P880P	NM_170665	NP_733765	P16615	AT2A2_HUMAN			18	3203	+			880			Lumenal (By similarity).		A6NDN7|B4DF05|P16614|Q86VJ2	Silent	SNP	ENST00000539276.2	37	c.2640G>C	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	G	9.405	1.078955	0.20227	.	.	ENSG00000174437	ENST00000548169	.	.	.	5.49	-5.53	0.02552	.	.	.	.	.	T	0.38321	0.1036	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39663	-0.9603	4	.	.	.	.	2.9769	0.05941	0.5274:0.0886:0.1821:0.2018	.	.	.	.	R	771	.	.	G	+	1	0	ATP2A2	109267469	0.000000	0.05858	0.924000	0.36721	0.957000	0.61999	-2.056000	0.01396	-0.886000	0.03966	-0.140000	0.14226	GGA		0.448	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1		NM_001681		62	158	0	0	0	0.01441	0	62	158		
ATXN2	6311	broad.mit.edu	37	12	111953957	111953957	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:111953957C>T	ENST00000377617.3	-	10	2017		c.e10+1		ATXN2_ENST00000389153.4_Splice_Site|ATXN2_ENST00000542287.2_Splice_Site|ATXN2_ENST00000550104.1_Splice_Site|ATXN2_ENST00000535949.1_Splice_Site|ATXN2_ENST00000608853.1_Splice_Site	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2						cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGGTATTGTACCTTCTGAAGA	0.428																																						uc001tsj.2		NaN																	0				ovary(1)|breast(1)	2						c.e10+1		ataxin 2							44.0	45.0	45.0					12																	111953957		2203	4300	6503	SO:0001630	splice_region_variant	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111953957C>T	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.1855+1G>A	12.37:g.111953957C>T						ATXN2_uc001tsh.2_Splice_Site_p.G354_splice|ATXN2_uc001tsi.2_Splice_Site_p.G330_splice|ATXN2_uc001tsk.2_Splice_Site|ATXN2_uc001tsm.1_Splice_Site_p.G354_splice	p.G619_splice	NM_002973	NP_002964	Q99700	ATX2_HUMAN			10	2017	-								A6NLD4|Q6ZQZ7|Q99493	Splice_Site	SNP	ENST00000377617.3	37	c.1855_splice	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524375	0.64747	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949;ENST00000492467	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6302	0.91357	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATXN2	110438340	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.358000	0.79466	2.484000	0.83849	0.467000	0.42956	.		0.428	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3		NM_002973	Intron	6	26	0	0	0	0.001984	0	6	26		
HSPB8	26353	broad.mit.edu	37	12	119617346	119617346	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:119617346G>T	ENST00000281938.2	+	1	900	c.229G>T	c.(229-231)Gcc>Tcc	p.A77S	RP11-64B16.4_ENST00000535921.1_RNA	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	77					cell death (GO:0008219)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CACTGCCACCGCCAGGTTTGG	0.672																																						uc001txb.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(229-231)GCC>TCC		heat shock 22kDa protein 8							26.0	31.0	30.0					12																	119617346		2202	4300	6502	SO:0001583	missense	26353				cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity	g.chr12:119617346G>T	AF191017	CCDS9189.1	12q24.23	2014-09-17	2004-04-23					"""Heat shock proteins / HSPB"""	30171	protein-coding gene	gene with protein product		608014	"""heat shock 27kDa protein 8"""			10833516, 11085516	Standard	NM_014365		Approved	H11, E2IG1, HSP22, HspB8	uc001txb.3	Q9UJY1		ENST00000281938.2:c.229G>T	12.37:g.119617346G>T	ENSP00000281938:p.Ala77Ser					HSPB8_uc001txc.2_Missense_Mutation_p.A77S	p.A77S	NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN			1	752	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		77					B2R6A6|Q6FIH3|Q9UKS3	Missense_Mutation	SNP	ENST00000281938.2	37	c.229G>T	CCDS9189.1	.	.	.	.	.	.	.	.	.	.	G	4.299	0.054645	0.08291	.	.	ENSG00000152137	ENST00000281938	D	0.86865	-2.18	4.42	2.59	0.31030	HSP20-like chaperone (1);	0.610229	0.17470	N	0.173129	T	0.71484	0.3345	N	0.16368	0.405	0.22511	N	0.999036	B	0.06786	0.001	B	0.04013	0.001	T	0.54207	-0.8328	9	.	.	.	.	2.9882	0.05974	0.3474:0.0:0.4613:0.1913	.	77	Q9UJY1	HSPB8_HUMAN	S	77	ENSP00000281938:A77S	.	A	+	1	0	HSPB8	118101729	0.000000	0.05858	0.173000	0.22940	0.212000	0.24457	0.469000	0.22067	0.506000	0.28125	0.563000	0.77884	GCC		0.672	HSPB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401647.1		NM_014365		13	40	1	0	0.00010058	0.013537	0.000104886	13	40		
VPS37B	79720	broad.mit.edu	37	12	123355588	123355588	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:123355588G>A	ENST00000267202.2	-	2	513	c.132C>T	c.(130-132)aaC>aaT	p.N44N		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	44					endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		TCATTTCTTTGTTAAGCTGAA	0.502																																						uc001udl.2		NaN																	0					0						c.(130-132)AAC>AAT		vacuolar protein sorting 37B							80.0	79.0	80.0					12																	123355588		2203	4300	6503	SO:0001819	synonymous_variant	79720				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr12:123355588G>A	AK022812	CCDS9239.1	12q24.31	2008-02-05	2006-04-04		ENSG00000139722	ENSG00000139722			25754	protein-coding gene	gene with protein product		610037	"""vacuolar protein sorting 37B (yeast)"""			15218037	Standard	NM_024667		Approved	FLJ12750	uc001udl.3	Q9H9H4	OTTHUMG00000168767	ENST00000267202.2:c.132C>T	12.37:g.123355588G>A							p.N44N	NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)	2	235	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		44						Silent	SNP	ENST00000267202.2	37	c.132C>T	CCDS9239.1																																																																																				0.502	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400946.1		NM_024667		15	45	0	0	0	0.003163	0	15	45		
SBNO1	55206	broad.mit.edu	37	12	123815916	123815916	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:123815916C>T	ENST00000602398.1	-	8	1043	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K	SBNO1_ENST00000267176.4_Missense_Mutation_p.E305K|SBNO1_ENST00000602750.1_Missense_Mutation_p.E305K|SBNO1_ENST00000420886.2_Missense_Mutation_p.E306K			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	306					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		AGGAAAGTTTCATGTTGCTGA	0.363																																						uc010tap.1		NaN																	0				breast(5)|skin(2)|ovary(1)|kidney(1)	9						c.(916-918)GAA>AAA		sno, strawberry notch homolog 1							88.0	85.0	86.0					12																	123815916		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123815916C>T	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.916G>A	12.37:g.123815916C>T	ENSP00000473665:p.Glu306Lys					SBNO1_uc010tao.1_Missense_Mutation_p.E305K|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.E306K|SBNO1_uc001ueu.2_Missense_Mutation_p.E305K|SBNO1_uc001uev.2_Missense_Mutation_p.E304K|SBNO1_uc009zxy.1_Missense_Mutation_p.E271K	p.E306K	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	7	916	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		306					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.916G>A	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	C	36	5.792945	0.96952	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	T;T	0.35048	1.33;1.33	5.83	5.83	0.93111	Helicase/UvrB domain (1);	0.000000	0.85682	D	0.000000	T	0.68128	0.2967	M	0.89414	3.03	0.80722	D	1	P;P;D	0.67145	0.749;0.698;0.996	P;P;D	0.76071	0.657;0.5;0.987	T	0.69621	-0.5096	10	0.44086	T	0.13	-38.8002	20.1218	0.97964	0.0:1.0:0.0:0.0	.	306;305;304	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	K	306;305;305	ENSP00000387361:E306K;ENSP00000267176:E305K	ENSP00000267176:E305K	E	-	1	0	SBNO1	122381869	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.794000	0.85869	2.763000	0.94921	0.561000	0.74099	GAA		0.363	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1		NM_018183		21	45	0	0	0	0.010504	0	21	45		
MTMR6	9107	broad.mit.edu	37	13	25832777	25832777	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr13:25832777G>C	ENST00000381801.5	-	7	1541	c.780C>G	c.(778-780)aaC>aaG	p.N260K	MTMR6_ENST00000540661.1_Missense_Mutation_p.N260K|MTMR6_ENST00000482345.1_5'UTR	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	260	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TATTGGAATAGTTGTCTTCAT	0.294																																						uc001uqf.3		NaN																	0				ovary(2)|skin(2)	4						c.(778-780)AAC>AAG		myotubularin related protein 6							71.0	68.0	69.0					13																	25832777		2201	4296	6497	SO:0001583	missense	9107					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr13:25832777G>C	AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.780C>G	13.37:g.25832777G>C	ENSP00000371221:p.Asn260Lys					MTMR6_uc001uqe.1_Missense_Mutation_p.N260K	p.N260K	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)	7	1099	-		Lung SC(185;0.0225)|Breast(139;0.0351)	260			Myotubularin phosphatase.		B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	c.780C>G	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508189	0.64410	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.93019	-3.15;-3.15	5.47	0.77	0.18497	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.041747	0.85682	D	0.000000	D	0.95433	0.8517	M	0.81614	2.55	0.58432	D	0.999999	D;D	0.71674	0.998;0.991	D;P	0.72338	0.977;0.82	D	0.93064	0.6477	10	0.34782	T	0.22	.	10.2414	0.43314	0.3289:0.0:0.6711:0.0	.	260;260	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	K	260	ENSP00000443161:N260K;ENSP00000371221:N260K	ENSP00000371221:N260K	N	-	3	2	MTMR6	24730777	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.837000	0.39201	0.293000	0.22520	0.563000	0.77884	AAC		0.294	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1		NM_004685		16	30	0	0	0	0.004007	0	16	30		
AKAP11	11215	broad.mit.edu	37	13	42877222	42877222	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr13:42877222A>G	ENST00000025301.2	+	8	4515	c.4340A>G	c.(4339-4341)tAt>tGt	p.Y1447C		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1447				LDPYRNEVSQLYSFSTSLVHSITKDA -> CGPSVELSPWK WQTRCGREGNSWKRE (in Ref. 5; BAA92117). {ECO:0000305}.	intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CTGGATCCATATAGAAATGAG	0.388																																						uc001uys.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(4339-4341)TAT>TGT		A-kinase anchor protein 11							57.0	62.0	60.0					13																	42877222		2202	4299	6501	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42877222A>G	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.4340A>G	13.37:g.42877222A>G	ENSP00000025301:p.Tyr1447Cys						p.Y1447C	NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	4515	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1447	LDPYRNEVSQLYSFSTSLVHSITKDA -> CGPSVELSPWK WQTRCGREGNSWKRE (in Ref. 5; BAA92117).				O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.4340A>G	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	A	0.022	-1.410704	0.01145	.	.	ENSG00000023516	ENST00000025301	T	0.44083	0.93	5.98	-4.44	0.03557	.	1.285770	0.05064	N	0.480428	T	0.22666	0.0547	N	0.02736	-0.51	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18304	-1.0341	10	0.33940	T	0.23	.	17.4352	0.87549	0.3358:0.0:0.6642:0.0	.	1447	Q9UKA4	AKA11_HUMAN	C	1447	ENSP00000025301:Y1447C	ENSP00000025301:Y1447C	Y	+	2	0	AKAP11	41775222	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.068000	0.14531	-0.778000	0.04566	-1.140000	0.01884	TAT		0.388	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2		NM_016248		39	87	0	0	0	0.007835	0	39	87		
RB1	5925	broad.mit.edu	37	13	49039203	49039203	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr13:49039203A>C	ENST00000267163.4	+	22	2419	c.2281A>C	c.(2281-2283)Atg>Ctg	p.M761L		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	761	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(12)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTCGGTCTTCATGCAGAGACT	0.333		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		27	Whole gene deletion(15)|Unknown(12)	p.?(8)|p.M761fs*4(1)	bone(11)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358						c.(2281-2283)ATG>CTG		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						64.0	66.0	66.0					13																	49039203		2203	4300	6503	SO:0001583	missense	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49039203A>C	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2281A>C	13.37:g.49039203A>C	ENSP00000267163:p.Met761Leu	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.M761L	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	22	2447	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	761			Pocket; binds T and E1A.|Domain B.		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.2281A>C	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.415212	0.83449	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.89939	-2.59	5.48	5.48	0.80851	Retinoblastoma-associated protein, B-box (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	D	0.91164	0.7217	L	0.52759	1.655	0.80722	D	1	D	0.55172	0.97	P	0.57152	0.814	D	0.91776	0.5431	10	0.59425	D	0.04	-16.3384	15.5628	0.76262	1.0:0.0:0.0:0.0	.	761	P06400	RB_HUMAN	L	740;761	ENSP00000267163:M761L	ENSP00000267163:M761L	M	+	1	0	RB1	47937204	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.096000	0.63516	0.482000	0.46254	ATG		0.333	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1				9	50	0	0	0	0.006214	0	9	50		
FARP1	10160	broad.mit.edu	37	13	99020427	99020427	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr13:99020427C>T	ENST00000319562.6	+	5	641	c.376C>T	c.(376-378)Caa>Taa	p.Q126*	FARP1_ENST00000376586.2_Nonsense_Mutation_p.Q126*|FARP1_ENST00000595437.1_Nonsense_Mutation_p.Q126*	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	126	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGACCACACACAACTCCAAGA	0.373																																						uc001vnj.2		NaN																	0				breast(2)	2						c.(376-378)CAA>TAA		FERM, RhoGEF, and pleckstrin domain protein 1							111.0	99.0	103.0					13																	99020427		2203	4300	6503	SO:0001587	stop_gained	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99020427C>T	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.376C>T	13.37:g.99020427C>T	ENSP00000322926:p.Gln126*					FARP1_uc001vnh.2_Nonsense_Mutation_p.Q126*	p.Q126*	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		5	712	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		126			FERM.		Q5JVI9|Q6IQ29	Nonsense_Mutation	SNP	ENST00000319562.6	37	c.376C>T	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	C	40	7.955065	0.98580	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	.	.	.	5.91	5.91	0.95273	.	0.116943	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.07	0.93130	0.0:1.0:0.0:0.0	.	.	.	.	X	126	.	ENSP00000322926:Q126X	Q	+	1	0	FARP1	97818428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.572000	0.74005	2.793000	0.96121	0.655000	0.94253	CAA		0.373	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3		NM_005766		6	38	0	0	0	0.001168	0	6	38		
TNFSF13B	10673	broad.mit.edu	37	13	108922250	108922250	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr13:108922250G>C	ENST00000375887.4	+	1	185	c.7G>C	c.(7-9)Gac>Cac	p.D3H	TNFSF13B_ENST00000542136.1_Missense_Mutation_p.D3H|TNFSF13B_ENST00000430559.1_Missense_Mutation_p.D3H	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	3					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|cell proliferation (GO:0008283)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		Belimumab(DB08879)	TGATATGGATGACTCCACAGA	0.443																																						uc001vqr.2		NaN																	0					0						c.(7-9)GAC>CAC		tumor necrosis factor superfamily, member 13b							75.0	80.0	78.0					13																	108922250		2203	4300	6503	SO:0001583	missense	10673				cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding	g.chr13:108922250G>C	AF136293	CCDS9509.1, CCDS45067.1	13q32-q34	2008-05-14			ENSG00000102524	ENSG00000102524		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11929	protein-coding gene	gene with protein product		603969		TNFSF20		10331498, 10359578	Standard	NM_006573		Approved	BAFF, THANK, BLYS, TALL-1, TALL1, CD257	uc001vqr.3	Q9Y275	OTTHUMG00000017329	ENST00000375887.4:c.7G>C	13.37:g.108922250G>C	ENSP00000365048:p.Asp3His					TNFSF13B_uc010agj.2_Missense_Mutation_p.D3H	p.D3H	NM_006573	NP_006564	Q9Y275	TN13B_HUMAN	all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		1	274	+	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		3			Cytoplasmic (Potential).		E0ADT7|Q6FHD6|Q7Z5J2	Missense_Mutation	SNP	ENST00000375887.4	37	c.7G>C	CCDS9509.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.242848	0.22796	.	.	ENSG00000102524	ENST00000430559;ENST00000375887;ENST00000542136	T;T;T	0.54866	0.55;1.22;0.58	5.14	4.29	0.51040	.	0.934611	0.09021	N	0.860206	T	0.53674	0.1811	L	0.44542	1.39	0.20074	N	0.999932	P;P	0.51791	0.948;0.913	P;B	0.50617	0.646;0.443	T	0.40194	-0.9576	10	0.54805	T	0.06	-6.4129	7.1622	0.25671	0.0888:0.0:0.7325:0.1788	.	3;3	Q9Y275-2;Q9Y275	.;TN13B_HUMAN	H	3	ENSP00000389540:D3H;ENSP00000365048:D3H;ENSP00000445334:D3H	ENSP00000365048:D3H	D	+	1	0	TNFSF13B	107720251	1.000000	0.71417	0.274000	0.24659	0.405000	0.30901	2.463000	0.45058	1.138000	0.42230	0.650000	0.86243	GAC		0.443	TNFSF13B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045739.3				39	64	0	0	0	0.006999	0	39	64		
RNASE7	84659	broad.mit.edu	37	14	21511342	21511342	+	Missense_Mutation	SNP	G	G	T	rs201250028		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:21511342G>T	ENST00000298690.4	+	2	448	c.191G>T	c.(190-192)cGg>cTg	p.R64L	NDRG2_ENST00000403829.3_Intron	NM_032572.3	NP_115961	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7	64					antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|membrane disruption in other organism (GO:0051673)|response to bacterium (GO:0009617)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|lipopolysaccharide binding (GO:0001530)|nucleic acid binding (GO:0003676)|peptidoglycan binding (GO:0042834)|ribonuclease activity (GO:0004540)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CACACAAAACGGTGCAAAGAC	0.502																																						uc001vzk.3		NaN																	0				ovary(1)	1						c.(190-192)CGG>CTG		ribonuclease, RNase A family, 7 precursor							142.0	130.0	134.0					14																	21511342		2203	4300	6503	SO:0001583	missense	84659				defense response to bacterium|innate immune response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21511342G>T	AJ131212	CCDS41914.1	14q11.1	2013-02-15			ENSG00000165799	ENSG00000165799		"""Ribonucleases, RNase A"""	19278	protein-coding gene	gene with protein product		612484				12244054, 12527768	Standard	NM_032572		Approved		uc001vzk.4	Q9H1E1	OTTHUMG00000171358	ENST00000298690.4:c.191G>T	14.37:g.21511342G>T	ENSP00000298690:p.Arg64Leu					NDRG2_uc010tll.1_Intron|RNASE7_uc001vzl.2_RNA	p.R64L	NM_032572	NP_115961	Q9H1E1	RNAS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)	2	448	+	all_cancers(95;0.000759)		64					P80927|P83685|Q546N3	Missense_Mutation	SNP	ENST00000298690.4	37	c.191G>T	CCDS41914.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367113	0.61513	.	.	ENSG00000165799	ENST00000298690	T	0.74315	-0.83	5.09	-10.2	0.00374	Ribonuclease A, domain (4);	0.721755	0.11975	N	0.511387	T	0.66036	0.2749	M	0.82193	2.58	0.09310	N	1	B	0.28850	0.225	B	0.31614	0.133	T	0.54125	-0.8340	10	0.59425	D	0.04	-1.5358	3.9295	0.09278	0.198:0.1145:0.4629:0.2246	.	64	Q9H1E1	RNAS7_HUMAN	L	64	ENSP00000298690:R64L	ENSP00000298690:R64L	R	+	2	0	RNASE7	20581182	0.000000	0.05858	0.000000	0.03702	0.820000	0.46376	-3.040000	0.00633	-2.386000	0.00590	-0.302000	0.09304	CGG		0.502	RNASE7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313936.1		NM_032572		25	80	1	0	6.32553e-13	0.004656	6.89139e-13	25	80		
LRP10	26020	broad.mit.edu	37	14	23346425	23346425	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:23346425G>T	ENST00000359591.4	+	7	2522	c.1831G>T	c.(1831-1833)Gag>Tag	p.E611*	LRP10_ENST00000470660.1_Intron|LRP10_ENST00000546834.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	611					endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GCAAGATGGGGAGCAGGCACC	0.667																																						uc001whd.2		NaN																	0				central_nervous_system(1)	1						c.(1831-1833)GAG>TAG		low density lipoprotein receptor-related protein							36.0	43.0	41.0					14																	23346425		2201	4292	6493	SO:0001587	stop_gained	26020				endocytosis	coated pit|integral to membrane		g.chr14:23346425G>T	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.1831G>T	14.37:g.23346425G>T	ENSP00000352601:p.Glu611*					LRP10_uc001whe.2_Intron	p.E611*	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	7	2384	+	all_cancers(95;4.69e-05)		611			Cytoplasmic (Potential).		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Nonsense_Mutation	SNP	ENST00000359591.4	37	c.1831G>T	CCDS9578.1	.	.	.	.	.	.	.	.	.	.	G	43	9.890061	0.99289	.	.	ENSG00000197324	ENST00000359591	.	.	.	4.9	4.9	0.64082	.	0.647895	0.16546	N	0.209681	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-3.8733	15.4503	0.75268	0.0:0.0:1.0:0.0	.	.	.	.	X	611	.	ENSP00000352601:E611X	E	+	1	0	LRP10	22416265	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	3.723000	0.54955	2.710000	0.92621	0.462000	0.41574	GAG		0.667	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3				21	58	1	0	4.96729e-08	0.008871	5.30986e-08	21	58		
PRKD1	5587	broad.mit.edu	37	14	30098274	30098274	+	Silent	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:30098274T>C	ENST00000331968.5	-	11	1927	c.1698A>G	c.(1696-1698)gtA>gtG	p.V566V	PRKD1_ENST00000415220.2_Silent_p.V574V	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	566					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGCAATTTGATACTGAAATAC	0.303																																						uc001wqh.2		NaN																	0				lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(1696-1698)GTA>GTG		protein kinase D1							72.0	71.0	71.0					14																	30098274		2203	4291	6494	SO:0001819	synonymous_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30098274T>C		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1698A>G	14.37:g.30098274T>C							p.V566V	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	11	1879	-	Hepatocellular(127;0.0604)		566					A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	c.1698A>G	CCDS9637.1																																																																																				0.303	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2		NM_002742		24	62	0	0	0	0.004656	0	24	62		
COCH	1690	broad.mit.edu	37	14	31355167	31355167	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:31355167A>T	ENST00000396618.3	+	11	1182	c.1126A>T	c.(1126-1128)Agc>Tgc	p.S376C	COCH_ENST00000475087.1_Missense_Mutation_p.S376C|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Missense_Mutation_p.S376C|RP11-829H16.3_ENST00000556786.1_RNA|COCH_ENST00000382493.4_Missense_Mutation_p.S227C|COCH_ENST00000460581.2_Missense_Mutation_p.S264C|RP11-829H16.3_ENST00000468444.2_RNA|RP11-829H16.3_ENST00000555421.1_RNA	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	376	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TGATGGCTCCAGCAGTGTTGG	0.438																																						uc001wqr.2		NaN																	0				pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(1126-1128)AGC>TGC		cochlin precursor							101.0	86.0	91.0					14																	31355167		2203	4300	6503	SO:0001583	missense	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31355167A>T		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.1126A>T	14.37:g.31355167A>T	ENSP00000379862:p.Ser376Cys					COCH_uc001wqp.2_Missense_Mutation_p.S376C|COCH_uc001wqq.3_Missense_Mutation_p.S376C|uc001wqs.2_RNA|COCH_uc001wqt.1_Missense_Mutation_p.S227C	p.S376C	NM_004086	NP_004077	O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	11	1206	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		376			VWFA 2.		A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	ENST00000396618.3	37	c.1126A>T	CCDS9640.1	.	.	.	.	.	.	.	.	.	.	A	19.37	3.813902	0.70912	.	.	ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000475087;ENST00000460581;ENST00000382493	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	6.02	4.85	0.62838	von Willebrand factor, type A (3);	0.118717	0.85682	D	0.000000	D	0.89188	0.6644	M	0.88377	2.95	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.964	D	0.90120	0.4198	10	0.59425	D	0.04	-18.8775	13.2893	0.60262	0.8677:0.1323:0.0:0.0	.	227;376;376	E7EN67;Q96IU6;O43405	.;.;COCH_HUMAN	C	376;376;376;264;227	ENSP00000216361:S376C;ENSP00000379862:S376C;ENSP00000451528:S376C;ENSP00000451713:S264C;ENSP00000371933:S227C	ENSP00000216361:S376C	S	+	1	0	COCH	30424918	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.089000	0.71384	1.059000	0.40554	0.528000	0.53228	AGC		0.438	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1		NM_004086		32	64	0	0	0	0.009535	0	32	64		
NUBPL	80224	broad.mit.edu	37	14	32031321	32031321	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:32031321C>T	ENST00000281081.7	+	2	201	c.156C>T	c.(154-156)atC>atT	p.I52I	CTD-2213F21.3_ENST00000548096.1_RNA	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	52					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrion morphogenesis (GO:0070584)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		GAACACAAATCATGTCCCGAG	0.398																																						uc001wrk.3		NaN																	0					0						c.(154-156)ATC>ATT		nucleotide binding protein-like							66.0	62.0	63.0					14																	32031321		1836	4067	5903	SO:0001819	synonymous_variant	80224				mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding	g.chr14:32031321C>T	AK022722	CCDS41940.1	14q12	2012-10-12	2005-01-07	2005-01-07	ENSG00000151413	ENSG00000151413		"""Mitochondrial respiratory chain complex assembly factors"""	20278	protein-coding gene	gene with protein product	"""iron-sulfur protein required for NADH dehydrogenase"""	613621	"""chromosome 14 open reading frame 127"""	C14orf127			Standard	NM_025152		Approved	FLJ12660, IND1, huInd1	uc001wrk.4	Q8TB37	OTTHUMG00000170521	ENST00000281081.7:c.156C>T	14.37:g.32031321C>T						NUBPL_uc010amj.2_RNA	p.I52I	NM_025152	NP_079428	Q8TB37	NUBPL_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)	2	211	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		52					B4DHZ1|Q86TZ4|Q9H9M2	Silent	SNP	ENST00000281081.7	37	c.156C>T	CCDS41940.1																																																																																				0.398	NUBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409519.1		NM_025152		6	24	0	0	0	0.001168	0	6	24		
MIA2	117153	broad.mit.edu	37	14	39716256	39716256	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:39716256C>A	ENST00000280082.3	+	4	677	c.478C>A	c.(478-480)Cag>Aag	p.Q160K	RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.Q160K|MIA2_ENST00000556784.1_Missense_Mutation_p.Q159K	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	160					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		AAGTGATTTTCAGATAGAACC	0.323																																						uc001wux.2		NaN																	0				ovary(1)|breast(1)	2						c.(478-480)CAG>AAG		melanoma inhibitory activity 2							45.0	50.0	49.0					14																	39716256		2202	4300	6502	SO:0001583	missense	117153					extracellular region		g.chr14:39716256C>A	BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.478C>A	14.37:g.39716256C>A	ENSP00000280082:p.Gln160Lys					MIA2_uc010amy.1_Missense_Mutation_p.Q91K	p.Q160K	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)	4	672	+	Hepatocellular(127;0.213)		160					A1L4H0|Q9H6C1	Missense_Mutation	SNP	ENST00000280082.3	37	c.478C>A	CCDS9672.1	.	.	.	.	.	.	.	.	.	.	C	6.645	0.487525	0.12641	.	.	ENSG00000150526;ENSG00000150526;ENSG00000258941	ENST00000280082;ENST00000556784;ENST00000553728	T;T;T	0.47528	0.84;0.85;3.19	5.64	3.69	0.42338	.	0.384968	0.19143	N	0.121648	T	0.43809	0.1264	M	0.71581	2.175	0.09310	N	1	B;B	0.24823	0.03;0.112	B;B	0.20955	0.014;0.032	T	0.32719	-0.9896	9	.	.	.	-25.5286	8.8086	0.34954	0.2466:0.4101:0.3433:0.0	.	160;160	Q96PC5;Q96PC5-2	MIA2_HUMAN;.	K	160;159;160	ENSP00000280082:Q160K;ENSP00000451934:Q159K;ENSP00000452252:Q160K	.	Q	+	1	0	MIA2;RP11-407N17.3	38786007	0.048000	0.20356	0.191000	0.23289	0.005000	0.04900	0.608000	0.24223	1.366000	0.46076	-0.176000	0.13171	CAG		0.323	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3		NM_054024		26	53	1	0	7.92952e-12	0.003954	8.55686e-12	26	53		
ZC3H14	79882	broad.mit.edu	37	14	89069337	89069337	+	Silent	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:89069337C>G	ENST00000251038.5	+	12	1905	c.1680C>G	c.(1678-1680)ctC>ctG	p.L560L	ZC3H14_ENST00000555755.1_Silent_p.L560L|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000393514.5_Silent_p.L535L|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000555900.1_Silent_p.L262L|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000336693.4_Intron	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	560						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TCAGAGGTCTCCTCCACCCAC	0.512																																						uc001xww.2		NaN																	0				ovary(2)|skin(1)	3						c.(1678-1680)CTC>CTG		zinc finger CCCH-type containing 14 isoform 1							142.0	125.0	131.0					14																	89069337		2203	4300	6503	SO:0001819	synonymous_variant	79882					cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89069337C>G	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1680C>G	14.37:g.89069337C>G						ZC3H14_uc010twd.1_Silent_p.L560L|ZC3H14_uc010twe.1_Silent_p.L560L|ZC3H14_uc001xwx.2_Intron|ZC3H14_uc010twf.1_Intron|ZC3H14_uc001xwy.2_Intron|ZC3H14_uc010twg.1_Intron|ZC3H14_uc001xxa.2_Silent_p.L105L|ZC3H14_uc001xxc.2_Intron|ZC3H14_uc001xxb.2_Intron	p.L560L	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN			12	1905	+			560					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Silent	SNP	ENST00000251038.5	37	c.1680C>G	CCDS32133.1	.	.	.	.	.	.	.	.	.	.	C	8.277	0.814778	0.16607	.	.	ENSG00000100722	ENST00000556000	.	.	.	5.53	4.63	0.57726	.	.	.	.	.	T	0.60715	0.2290	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58951	-0.7545	4	.	.	.	-11.6849	10.2072	0.43120	0.0:0.7903:0.1363:0.0734	.	.	.	.	C	476	.	.	S	+	2	0	ZC3H14	88139090	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.787000	0.38704	1.428000	0.47296	0.655000	0.94253	TCC		0.512	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1		NM_024824		15	45	0	0	0	0.00499	0	15	45		
GPR68	8111	broad.mit.edu	37	14	91700960	91700960	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:91700960G>A	ENST00000531499.2	-	2	774	c.435C>T	c.(433-435)atC>atT	p.I145I	GPR68_ENST00000529300.1_5'Flank|GPR68_ENST00000238699.3_Silent_p.I155I|GPR68_ENST00000535815.1_Silent_p.I145I			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	145					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I155I(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		CCTTGGCCCAGATGACCACGC	0.627																																						uc001xzg.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	kidney(1)	1						c.(433-435)ATC>ATT		G protein-coupled receptor 68							70.0	52.0	58.0					14																	91700960		2203	4300	6503	SO:0001819	synonymous_variant	8111				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:91700960G>A	U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"""GPCR / Class A : Orphans"""	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.435C>T	14.37:g.91700960G>A						GPR68_uc001xzh.2_Silent_p.I155I	p.I145I	NM_003485	NP_003476	Q15743	OGR1_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	2	776	-		all_cancers(154;0.0555)	145			Helical; Name=4; (Potential).		Q13334|Q4VBB4|Q6IX34	Silent	SNP	ENST00000531499.2	37	c.435C>T	CCDS9894.2																																																																																				0.627	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395245.2				9	32	0	0	0	0.006214	0	9	32		
NUDT14	256281	broad.mit.edu	37	14	105642983	105642983	+	Missense_Mutation	SNP	C	C	G	rs138979378	byFrequency	TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:105642983C>G	ENST00000392568.2	-	4	409	c.316G>C	c.(316-318)Ggc>Cgc	p.G106R	NUDT14_ENST00000550912.1_5'Flank|RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	106	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ADP-ribose diphosphatase activity (GO:0047631)|metal ion binding (GO:0046872)|UDP-sugar diphosphatase activity (GO:0008768)			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TCCACGAGGCCGGCACACAGC	0.677										HNSCC(42;0.11)																												uc010tyn.1		NaN																	0				skin(1)	1						c.(316-318)GGC>CGC		nudix-type motif 14							55.0	49.0	51.0					14																	105642983		2198	4292	6490	SO:0001583	missense	256281					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity	g.chr14:105642983C>G	AB087802	CCDS10000.1	14q32.33	2013-02-15			ENSG00000183828	ENSG00000183828		"""Nudix motif containing"""	20141	protein-coding gene	gene with protein product		609219				12429023	Standard	NM_177533		Approved	UGPP	uc010tyn.3	O95848	OTTHUMG00000170372	ENST00000392568.2:c.316G>C	14.37:g.105642983C>G	ENSP00000376349:p.Gly106Arg	HNSCC(42;0.11)				NUDT14_uc001yqi.2_RNA	p.G106R	NM_177533	NP_803877	O95848	NUD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	4	430	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	106			Nudix hydrolase.		Q86SJ8	Missense_Mutation	SNP	ENST00000392568.2	37	c.316G>C	CCDS10000.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166474	0.78339	.	.	ENSG00000183828	ENST00000392568;ENST00000535832	D	0.95554	-3.74	3.62	3.62	0.41486	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98257	0.9423	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98171	1.0452	10	0.87932	D	0	-25.9085	11.0854	0.48084	0.0:1.0:0.0:0.0	.	106	O95848	NUD14_HUMAN	R	106	ENSP00000376349:G106R	ENSP00000376349:G106R	G	-	1	0	NUDT14	104714028	1.000000	0.71417	0.156000	0.22583	0.821000	0.46438	6.197000	0.72100	2.329000	0.79093	0.563000	0.77884	GGC		0.677	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074544.4		NM_177533		19	60	0	0	0	0.006122	0	19	60		
TJP1	7082	broad.mit.edu	37	15	30010801	30010801	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr15:30010801C>A	ENST00000346128.6	-	21	4019	c.3545G>T	c.(3544-3546)gGg>gTg	p.G1182V	TJP1_ENST00000545208.2_Missense_Mutation_p.G1102V|TJP1_ENST00000356107.6_Missense_Mutation_p.G1182V|TJP1_ENST00000400011.2_Missense_Mutation_p.G1106V	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1182					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.H1178fs*10(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AGGCTTGGGCCCTGCTGAAGG	0.557																																					Melanoma(77;681 1843 6309 6570)	uc001zcr.2		NaN																	1	Deletion - Frameshift(1)		ovary(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(3544-3546)GGG>GTG		tight junction protein 1 isoform a							60.0	65.0	64.0					15																	30010801		2050	4196	6246	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30010801C>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.3545G>T	15.37:g.30010801C>A	ENSP00000281537:p.Gly1182Val					TJP1_uc010azl.2_Missense_Mutation_p.G1170V|TJP1_uc001zcq.2_Missense_Mutation_p.G1106V|TJP1_uc001zcs.2_Missense_Mutation_p.G1102V	p.G1182V	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	21	4020	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1182					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.3545G>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	5.968	0.362626	0.11296	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.05717	3.4;3.5	6.05	0.147	0.14838	.	0.471066	0.25520	N	0.030106	T	0.04815	0.0130	L	0.36672	1.1	0.09310	N	0.999998	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.001;0.001	T	0.44329	-0.9335	10	0.14252	T	0.57	.	10.4579	0.44561	0.3216:0.2059:0.4725:0.0	.	1175;1102;1182;1106	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	V	1182;1106;1182;1102;1102	ENSP00000281537:G1182V;ENSP00000382890:G1106V	ENSP00000281537:G1182V	G	-	2	0	TJP1	27798093	0.008000	0.16893	0.017000	0.16124	0.012000	0.07955	1.343000	0.33930	0.391000	0.25143	-0.175000	0.13238	GGG		0.557	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3		NM_003257		23	66	1	0	7.87624e-14	0.00278	8.69191e-14	23	66		
SLC12A6	9990	broad.mit.edu	37	15	34628777	34628777	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr15:34628777G>A	ENST00000354181.3	-	2	597	c.105C>T	c.(103-105)ctC>ctT	p.L35L	SLC12A6_ENST00000558589.1_Silent_p.L26L|SLC12A6_ENST00000397707.2_Silent_p.L35L|SLC12A6_ENST00000397702.2_5'UTR|SLC12A6_ENST00000458406.2_5'UTR|SLC12A6_ENST00000558667.1_Silent_p.L35L|SLC12A6_ENST00000560611.1_Silent_p.L35L			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	35					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	ATCGAGAGCTGAGGTCCGGAC	0.527																																						uc001zhw.2		NaN																	0				central_nervous_system(5)|ovary(1)|skin(1)	7						c.(103-105)CTC>CTT		solute carrier family 12, member 6 isoform a	Potassium Chloride(DB00761)						67.0	72.0	71.0					15																	34628777		2138	4254	6392	SO:0001819	synonymous_variant	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34628777G>A	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.105C>T	15.37:g.34628777G>A						SLC12A6_uc001zhx.2_Silent_p.L35L|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_5'UTR|SLC12A6_uc001zib.2_Silent_p.L26L|SLC12A6_uc001zic.2_Silent_p.L35L|SLC12A6_uc010bau.2_Silent_p.L35L|SLC12A6_uc001zid.2_5'UTR	p.L35L	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	1	269	-		all_lung(180;2.78e-08)	35			Cytoplasmic (Potential).		A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Silent	SNP	ENST00000354181.3	37	c.105C>T	CCDS58352.1																																																																																				0.527	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1		NM_005135		14	54	0	0	0	0.006122	0	14	54		
MFAP1	4236	broad.mit.edu	37	15	44109632	44109632	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr15:44109632C>T	ENST00000267812.3	-	2	326	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	32					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TTCACTTTTTCCATTGAAATC	0.433																																						uc001zth.1		NaN																	0				skin(1)	1						c.(94-96)GAA>AAA		microfibrillar-associated protein 1							88.0	82.0	84.0					15																	44109632		2198	4298	6496	SO:0001583	missense	4236					microfibril		g.chr15:44109632C>T		CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.94G>A	15.37:g.44109632C>T	ENSP00000267812:p.Glu32Lys						p.E32K	NM_005926	NP_005917	P55081	MFAP1_HUMAN		GBM - Glioblastoma multiforme(94;4.33e-07)	2	278	-		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	32					Q86TG6	Missense_Mutation	SNP	ENST00000267812.3	37	c.94G>A	CCDS10105.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972774	0.74246	.	.	ENSG00000140259	ENST00000267812	.	.	.	4.9	4.9	0.64082	.	0.046935	0.85682	D	0.000000	T	0.71821	0.3385	L	0.46947	1.48	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.67764	-0.5586	9	0.30854	T	0.27	-22.8758	18.5849	0.91185	0.0:1.0:0.0:0.0	.	32	P55081	MFAP1_HUMAN	K	32	.	ENSP00000267812:E32K	E	-	1	0	MFAP1	41896924	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.434000	0.80377	2.644000	0.89710	0.655000	0.94253	GAA		0.433	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2		NM_005926		28	68	0	0	0	0.008361	0	28	68		
SECISBP2L	9728	broad.mit.edu	37	15	49320761	49320761	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr15:49320761C>G	ENST00000559471.1	-	5	1046	c.783G>C	c.(781-783)caG>caC	p.Q261H	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.Q261H	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	261							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CACTAGCCCCCTGCTCACTAG	0.512																																						uc001zxe.1		NaN																	0				breast(1)|skin(1)	2						c.(781-783)CAG>CAC		SECIS binding protein 2-like							140.0	122.0	128.0					15																	49320761		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49320761C>G	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.783G>C	15.37:g.49320761C>G	ENSP00000453854:p.Gln261His					SECISBP2L_uc001zxd.1_Missense_Mutation_p.Q261H|SECISBP2L_uc010bep.1_Missense_Mutation_p.Q23H|SECISBP2L_uc010beq.1_Intron	p.Q261H	NM_014701	NP_055516	Q93073	SBP2L_HUMAN			5	917	-			261					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.783G>C	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469139	0.63625	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	D	0.89810	-2.57	5.78	2.46	0.29980	.	0.000000	0.85682	D	0.000000	D	0.89283	0.6671	L	0.34521	1.04	0.46376	D	0.999018	D;D	0.71674	0.996;0.998	P;D	0.65443	0.862;0.935	D	0.87744	0.2587	10	0.45353	T	0.12	.	11.7088	0.51612	0.0:0.7271:0.0:0.2729	.	261;261	Q93073;Q93073-2	SBP2L_HUMAN;.	H	261	ENSP00000261847:Q261H	ENSP00000261847:Q261H	Q	-	3	2	SECISBP2L	47108053	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	0.553000	0.23391	0.795000	0.33922	-0.150000	0.13652	CAG		0.512	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1		NM_014701		31	87	0	0	0	0.008361	0	31	87		
VPS13C	54832	broad.mit.edu	37	15	62182381	62182381	+	Silent	SNP	G	G	A	rs113570828		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr15:62182381G>A	ENST00000261517.5	-	67	9397	c.9324C>T	c.(9322-9324)tcC>tcT	p.S3108S	VPS13C_ENST00000395896.4_Silent_p.S3108S|VPS13C_ENST00000395898.3_Silent_p.S3065S|VPS13C_ENST00000249837.3_Silent_p.S3065S	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCCCAATATAGGAAACTTCCT	0.373																																						uc002agz.2		NaN																	0				ovary(2)	2						c.(9322-9324)TCC>TCT		vacuolar protein sorting 13C protein isoform 2A							84.0	78.0	80.0					15																	62182381		2203	4300	6503	SO:0001819	synonymous_variant	54832				protein localization			g.chr15:62182381G>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.9324C>T	15.37:g.62182381G>A						VPS13C_uc002aha.2_Silent_p.S3065S|VPS13C_uc002ahb.1_Silent_p.S3108S|VPS13C_uc002ahc.1_Silent_p.S3065S	p.S3108S	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			67	9398	-			3108						Silent	SNP	ENST00000261517.5	37	c.9324C>T	CCDS32257.1																																																																																				0.373	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1		NM_017684		19	50	0	0	0	0.008871	0	19	50		
RAB8B	51762	broad.mit.edu	37	15	63541870	63541870	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr15:63541870G>A	ENST00000321437.4	+	3	368	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	RAB8B_ENST00000448330.2_Missense_Mutation_p.R71Q	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	71					adherens junction organization (GO:0034332)|antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|positive regulation of cell projection organization (GO:0031346)|positive regulation of corticotropin secretion (GO:0051461)|protein import into peroxisome membrane (GO:0045046)|small GTPase mediated signal transduction (GO:0007264)	cell tip (GO:0051286)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						GAAAGATTCCGAACAATCACG	0.448																																						uc002alz.2		NaN																	0				ovary(1)|kidney(1)	2						c.(211-213)CGA>CAA		RAB8B, member RAS oncogene family							113.0	108.0	110.0					15																	63541870		2203	4300	6503	SO:0001583	missense	51762				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr15:63541870G>A	AL833365	CCDS10183.1	15q22	2008-11-18			ENSG00000166128	ENSG00000166128		"""RAB, member RAS oncogene"""	30273	protein-coding gene	gene with protein product		613532				9030196, 18772196	Standard	XM_006720569		Approved		uc002alz.3	Q92930	OTTHUMG00000132862	ENST00000321437.4:c.212G>A	15.37:g.63541870G>A	ENSP00000312734:p.Arg71Gln					RAB8B_uc010uih.1_Missense_Mutation_p.R71Q	p.R71Q	NM_016530	NP_057614	Q92930	RAB8B_HUMAN			3	308	+			71					Q5JPC4|Q9P293	Missense_Mutation	SNP	ENST00000321437.4	37	c.212G>A	CCDS10183.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890115	0.91889	.	.	ENSG00000166128	ENST00000321437;ENST00000448330	T;T	0.77098	-1.07;-1.07	6.17	6.17	0.99709	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84884	0.5571	M	0.62209	1.925	0.80722	D	1	D;D	0.71674	0.998;0.996	P;P	0.57371	0.674;0.819	D	0.85380	0.1119	10	0.87932	D	0	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	71;71	F5GY21;Q92930	.;RAB8B_HUMAN	Q	71	ENSP00000312734:R71Q;ENSP00000405463:R71Q	ENSP00000312734:R71Q	R	+	2	0	RAB8B	61328923	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.405000	0.97313	2.941000	0.99782	0.655000	0.94253	CGA		0.448	RAB8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256336.1		NM_016530		9	25	0	0	0	0.010729	0	9	25		
HERC1	8925	broad.mit.edu	37	15	63970149	63970149	+	Missense_Mutation	SNP	C	C	G	rs374367917		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr15:63970149C>G	ENST00000443617.2	-	37	7052	c.6965G>C	c.(6964-6966)cGg>cCg	p.R2322P	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2322					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTGAACACACCGACCTCCAAC	0.557																																						uc002amp.2		NaN																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(6964-6966)CGG>CCG		hect domain and RCC1-like domain 1							141.0	145.0	144.0					15																	63970149		2143	4252	6395	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63970149C>G	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6965G>C	15.37:g.63970149C>G	ENSP00000390158:p.Arg2322Pro						p.R2322P	NM_003922	NP_003913	Q15751	HERC1_HUMAN			37	7113	-			2322					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.6965G>C	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317792	0.81469	.	.	ENSG00000103657	ENST00000443617	T	0.25912	1.77	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000002	T	0.43433	0.1247	L	0.47716	1.5	0.58432	D	0.999999	D	0.67145	0.996	P	0.59221	0.854	T	0.12091	-1.0561	10	0.56958	D	0.05	.	20.0628	0.97684	0.0:1.0:0.0:0.0	.	2322	Q15751	HERC1_HUMAN	P	2322	ENSP00000390158:R2322P	ENSP00000390158:R2322P	R	-	2	0	HERC1	61757202	0.998000	0.40836	0.992000	0.48379	0.984000	0.73092	3.919000	0.56439	2.745000	0.94114	0.655000	0.94253	CGG		0.557	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1		NM_003922		31	91	0	0	0	0.010818	0	31	91		
KIAA1024	23251	broad.mit.edu	37	15	79750750	79750750	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr15:79750750C>T	ENST00000305428.3	+	2	2336	c.2261C>T	c.(2260-2262)cCa>cTa	p.P754L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	754						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GACACAGGCCCAGGAGATAAT	0.453																																						uc002bew.1		NaN																	0				pancreas(2)|ovary(1)|central_nervous_system(1)	4						c.(2260-2262)CCA>CTA		hypothetical protein LOC23251							51.0	55.0	53.0					15																	79750750		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79750750C>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2261C>T	15.37:g.79750750C>T	ENSP00000307461:p.Pro754Leu					KIAA1024_uc010unk.1_Missense_Mutation_p.P754L	p.P754L	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN			2	2336	+			754					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.2261C>T	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409317	0.25378	.	.	ENSG00000169330	ENST00000305428	T	0.30448	1.53	5.93	1.93	0.25924	.	0.656572	0.15786	N	0.244686	T	0.22589	0.0545	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22243	-1.0222	9	.	.	.	.	7.5586	0.27839	0.0:0.5259:0.2721:0.202	.	754	Q9UPX6	K1024_HUMAN	L	754	ENSP00000307461:P754L	.	P	+	2	0	KIAA1024	77537805	0.525000	0.26290	0.005000	0.12908	0.029000	0.11900	1.567000	0.36407	0.109000	0.17891	0.655000	0.94253	CCA		0.453	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1		NM_015206		17	63	0	0	0	0.006122	0	17	63		
VIMP	55829	broad.mit.edu	37	15	101813019	101813019	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr15:101813019C>T	ENST00000398226.3	-	6	559	c.527G>A	c.(526-528)tGg>tAg	p.W176*	VIMP_ENST00000531964.1_Nonsense_Mutation_p.W153*|VIMP_ENST00000537379.1_Nonsense_Mutation_p.W176*|VIMP_ENST00000526049.1_Nonsense_Mutation_p.W176*			Q9BQE4	SELS_HUMAN	VCP-interacting membrane protein	176					cell redox homeostasis (GO:0045454)|cellular response to insulin stimulus (GO:0032869)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oxidative stress (GO:0034599)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of tumor necrosis factor production (GO:0032720)|regulation of gluconeogenesis (GO:0006111)|regulation of nitric oxide metabolic process (GO:0080164)|response to glucose (GO:0009749)|response to redox state (GO:0051775)|retrograde protein transport, ER to cytosol (GO:0030970)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|selenium binding (GO:0008430)										TCCAGGTCTCCAGGAGCAAGC	0.478																																						uc010use.1		NaN																	0					0						c.(526-528)TGG>TAG		selenoprotein S							34.0	36.0	35.0					15																	101813019		1945	4138	6083	SO:0001587	stop_gained	55829				anti-apoptosis|cell redox homeostasis|cellular response to insulin stimulus|cellular response to lipopolysaccharide|cellular response to oxidative stress|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|negative regulation of acute inflammatory response to antigenic stimulus|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of interleukin-6 production|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of tumor necrosis factor production|regulation of gluconeogenesis|regulation of nitric oxide metabolic process|response to glucose stimulus|response to redox state|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane|low-density lipoprotein particle|microsome|plasma membrane|very-low-density lipoprotein particle	antioxidant activity|enzyme binding|receptor activity|selenium binding	g.chr15:101813019C>T	AF328864	CCDS53979.1	15q26.3	2012-10-02			ENSG00000131871	ENSG00000131871			30396	protein-coding gene	gene with protein product	"""selenoprotein S"""	607918				16227999, 16186510	Standard	NM_018445		Approved	SELS, MGC2553, SBBI8, AD-015, SEPS1	uc021sxu.1	Q9BQE4	OTTHUMG00000166441	ENST00000398226.3:c.527G>A	15.37:g.101813019C>T	ENSP00000381282:p.Trp176*					SELS_uc010usf.1_Nonsense_Mutation_p.W176*	p.W176*	NM_203472	NP_982298	Q9BQE4	SELS_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		6	605	-	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		176					Q3B771|Q9P0I6	Nonsense_Mutation	SNP	ENST00000398226.3	37	c.527G>A	CCDS53979.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549418	0.86127	.	.	ENSG00000131871	ENST00000398226;ENST00000537379;ENST00000531964;ENST00000526049;ENST00000528346	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.46927	D	0.999258	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.765	18.4217	0.90592	0.0:1.0:0.0:0.0	.	.	.	.	X	176;176;153;176;216	.	ENSP00000381282:W176X	W	-	2	0	AC023024.1	99630542	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.836000	0.69375	2.687000	0.91594	0.655000	0.94253	TGG		0.478	VIMP-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389784.2		NM_018445		5	13	0	0	0	0.000602	0	5	13		
CACNA1H	8912	broad.mit.edu	37	16	1248648	1248648	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:1248648C>T	ENST00000348261.5	+	6	925	c.677C>T	c.(676-678)aCg>aTg	p.T226M	CACNA1H_ENST00000358590.4_Missense_Mutation_p.T226M|CACNA1H_ENST00000565831.1_Missense_Mutation_p.T226M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	226					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	ctgctggatacgctgcccatg	0.632																																						uc002cks.2		NaN																	0				breast(2)	2						c.(676-678)ACG>ATG		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Mibefradil(DB01388)						144.0	161.0	155.0					16																	1248648		2187	4280	6467	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1248648C>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.677C>T	16.37:g.1248648C>T	ENSP00000334198:p.Thr226Met					CACNA1H_uc002ckt.2_Missense_Mutation_p.T226M	p.T226M	NM_021098	NP_066921	O95180	CAC1H_HUMAN			6	925	+		Hepatocellular(780;0.00369)	226			Cytoplasmic (Potential).|I.		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.677C>T	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211016	0.58343	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98437	-4.93;-4.93	3.65	3.65	0.41850	Ion transport (1);	0.234252	0.38837	N	0.001559	D	0.98994	0.9657	M	0.90019	3.08	0.38391	D	0.945419	D;D	0.89917	0.999;1.0	P;D	0.91635	0.732;0.999	D	0.99914	1.1217	10	0.87932	D	0	.	14.0887	0.64975	0.0:1.0:0.0:0.0	.	226;226	O95180-2;O95180	.;CAC1H_HUMAN	M	226	ENSP00000334198:T226M;ENSP00000351401:T226M	ENSP00000334198:T226M	T	+	2	0	CACNA1H	1188649	1.000000	0.71417	0.970000	0.41538	0.265000	0.26407	5.134000	0.64770	1.889000	0.54706	0.543000	0.68304	ACG		0.632	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1		NM_001005407		40	70	0	0	0	0.009718	0	40	70		
MRPS34	65993	broad.mit.edu	37	16	1822451	1822451	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:1822451G>C	ENST00000397375.2	-	3	463	c.428C>G	c.(427-429)cCc>cGc	p.P143R	NME3_ENST00000219302.3_5'Flank|NME3_ENST00000563498.1_5'Flank|EME2_ENST00000568449.1_5'Flank|MRPS34_ENST00000177742.3_Missense_Mutation_p.P150R|EME2_ENST00000307394.7_5'Flank	NM_023936.1	NP_076425.1	P82930	RT34_HUMAN	mitochondrial ribosomal protein S34	143						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|skin(2)	3						CTCGTGCTTGGGCACCAGCCG	0.627																																						uc002cmo.2		NaN																	0				skin(2)	2						c.(427-429)CCC>CGC		mitochondrial ribosomal protein S34							68.0	74.0	72.0					16																	1822451		2195	4298	6493	SO:0001583	missense	65993					mitochondrion|ribosome	protein binding	g.chr16:1822451G>C	BC001182	CCDS10444.1, CCDS73805.1	16p13.3	2012-09-13			ENSG00000074071	ENSG00000074071		"""Mitochondrial ribosomal proteins / small subunits"""	16618	protein-coding gene	gene with protein product		611994					Standard	NM_023936		Approved	MRP-S12, MGC2616	uc002cmo.3	P82930	OTTHUMG00000128636	ENST00000397375.2:c.428C>G	16.37:g.1822451G>C	ENSP00000380531:p.Pro143Arg					NME3_uc002cmm.2_5'Flank|NME3_uc010brv.2_5'Flank|MRPS34_uc002cmn.2_Missense_Mutation_p.P9R|MRPS34_uc002cmp.1_Missense_Mutation_p.P150R|EME2_uc002cmq.1_5'Flank|EME2_uc010brw.1_5'Flank	p.P143R	NM_023936	NP_076425	P82930	RT34_HUMAN			3	448	-			143					Q9BVI7	Missense_Mutation	SNP	ENST00000397375.2	37	c.428C>G	CCDS10444.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715456	0.89112	.	.	ENSG00000074071	ENST00000397375;ENST00000177742	T;T	0.56444	0.46;0.46	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.74869	0.3773	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.78773	-0.2073	10	0.49607	T	0.09	-0.8887	15.9079	0.79445	0.0:0.0:1.0:0.0	.	150;143	C9JJ19;P82930	.;RT34_HUMAN	R	143;150	ENSP00000380531:P143R;ENSP00000177742:P150R	ENSP00000177742:P150R	P	-	2	0	MRPS34	1762452	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.320000	0.96346	2.075000	0.62263	0.561000	0.74099	CCC		0.627	MRPS34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250506.1		NM_023936		33	114	0	0	0	0.004289	0	33	114		
ZSCAN10	84891	broad.mit.edu	37	16	3139752	3139752	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:3139752C>G	ENST00000252463.2	-	5	1605	c.1518G>C	c.(1516-1518)caG>caC	p.Q506H	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.Q424H|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.Q167H|RP11-473M20.9_ENST00000571404.1_lincRNA	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	506					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GCTGCGAGCTCTGCGTGAAGC	0.716																																						uc002ctv.1		NaN																	0				ovary(1)	1						c.(1516-1518)CAG>CAC		zinc finger and SCAN domain containing 10							10.0	11.0	11.0					16																	3139752		2167	4243	6410	SO:0001583	missense	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3139752C>G	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1518G>C	16.37:g.3139752C>G	ENSP00000252463:p.Gln506His					ZSCAN10_uc002cty.1_Missense_Mutation_p.Q167H|ZSCAN10_uc002ctw.1_Missense_Mutation_p.Q424H|ZSCAN10_uc002ctx.1_Missense_Mutation_p.Q434H	p.Q506H	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN			5	1606	-			506			C2H2-type 7.		B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.1518G>C	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.441525	0.25900	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.05513	3.43	5.47	-3.47	0.04753	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48767	D	0.000164	T	0.08626	0.0214	L	0.27944	0.81	0.58432	D	0.999996	D;D;D	0.89917	0.987;1.0;1.0	P;D;D	0.78314	0.826;0.99;0.991	T	0.21827	-1.0234	10	0.25106	T	0.35	-34.7325	6.4894	0.22107	0.1143:0.4562:0.0:0.4295	.	167;439;506	Q96SZ4-2;Q1WWM2;Q96SZ4	.;.;ZSC10_HUMAN	H	439;506	ENSP00000252463:Q506H	ENSP00000252463:Q506H	Q	-	3	2	ZSCAN10	3079753	0.000000	0.05858	0.003000	0.11579	0.244000	0.25665	-0.792000	0.04594	-1.047000	0.03242	-0.743000	0.03520	CAG		0.716	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2		NM_032805		7	4	0	0	0	0.001984	0	7	4		
CREBBP	1387	broad.mit.edu	37	16	3788651	3788651	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:3788651C>G	ENST00000262367.5	-	26	5112	c.4303G>C	c.(4303-4305)Gat>Cat	p.D1435H	CREBBP_ENST00000382070.3_Missense_Mutation_p.D1397H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1435	Acetyl-CoA binding. {ECO:0000250|UniProtKB:Q09472}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.|Interaction with histone. {ECO:0000250|UniProtKB:Q09472}.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.D1435Y(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGAATACTATCCAGATAAGAA	0.433			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2		NaN		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		1	Substitution - Missense(1)	p.D1435G(1)|p.D1435E(1)	lung(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(4303-4305)GAT>CAT		CREB binding protein isoform a							63.0	55.0	58.0					16																	3788651		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3788651C>G	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4303G>C	16.37:g.3788651C>G	ENSP00000262367:p.Asp1435His					CREBBP_uc002cvw.2_Missense_Mutation_p.D1397H	p.D1435H	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	26	4507	-		Ovarian(90;0.0266)	1435			Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4303G>C	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	21.1	4.093690	0.76870	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.99436	-5.9;-5.9	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.99722	0.9892	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97386	0.9986	10	0.87932	D	0	-26.2761	19.2588	0.93959	0.0:1.0:0.0:0.0	.	1465;1435	Q4LE28;Q92793	.;CBP_HUMAN	H	1435;1465;1397;24	ENSP00000262367:D1435H;ENSP00000371502:D1397H	ENSP00000262367:D1435H	D	-	1	0	CREBBP	3728652	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.755000	0.85180	2.638000	0.89438	0.561000	0.74099	GAT		0.433	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2		NM_004380		12	19	0	0	0	0.010729	0	12	19		
NMRAL1	57407	broad.mit.edu	37	16	4511813	4511813	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:4511813C>A	ENST00000574733.1	-	6	1597	c.868G>T	c.(868-870)Gaa>Taa	p.E290*	NMRAL1_ENST00000572391.1_5'Flank|NMRAL1_ENST00000574425.1_Nonsense_Mutation_p.E290*|NMRAL1_ENST00000404295.3_Nonsense_Mutation_p.E290*|NMRAL1_ENST00000283429.6_Nonsense_Mutation_p.E290*			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	290						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						TTGTGCTGTTCCAGCCACTGG	0.622																																						uc002cwm.2		NaN																	0				kidney(1)	1						c.(868-870)GAA>TAA		NmrA-like family domain containing 1							106.0	100.0	102.0					16																	4511813		2197	4300	6497	SO:0001587	stop_gained	57407					nucleus|perinuclear region of cytoplasm	binding	g.chr16:4511813C>A	AF225419	CCDS10516.1	16p13.3	2013-10-11			ENSG00000153406	ENSG00000153406		"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	24987	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 48A, member 1"""					19027726	Standard	NM_020677		Approved	FLJ25918, HSCARG, SDR48A1	uc002cwo.3	Q9HBL8	OTTHUMG00000129468	ENST00000574733.1:c.868G>T	16.37:g.4511813C>A	ENSP00000458762:p.Glu290*					NMRAL1_uc002cwn.2_Nonsense_Mutation_p.E290*|NMRAL1_uc002cwo.2_Nonsense_Mutation_p.E290*|NMRAL1_uc002cwp.2_Nonsense_Mutation_p.E326*	p.E290*	NM_020677	NP_065728	Q9HBL8	NMRL1_HUMAN			6	1024	-			290						Nonsense_Mutation	SNP	ENST00000574733.1	37	c.868G>T	CCDS10516.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967894	0.74131	.	.	ENSG00000153406	ENST00000283429;ENST00000404295	.	.	.	5.6	4.62	0.57501	.	0.222293	0.39146	N	0.001444	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-30.9952	13.817	0.63299	0.0:0.847:0.153:0.0	.	.	.	.	X	290	.	ENSP00000283429:E290X	E	-	1	0	NMRAL1	4451814	0.999000	0.42202	1.000000	0.80357	0.915000	0.54546	1.102000	0.31050	1.332000	0.45431	0.561000	0.74099	GAA		0.622	NMRAL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438579.1		NM_020677		46	81	1	0	5.20006e-24	0.011902	5.91074e-24	46	81		
SEZ6L2	26470	broad.mit.edu	37	16	29908193	29908193	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:29908193G>A	ENST00000308713.5	-	3	988	c.461C>T	c.(460-462)aCg>aTg	p.T154M	SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.T110M|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.T154M|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.T84M	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	154	Thr-rich.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.T154M(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GATGGTGGTCGTCGTCTCCTC	0.672																																						uc002duq.3		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|skin(1)	2						c.(460-462)ACG>ATG		seizure related 6 homolog (mouse)-like 2 isoform							146.0	94.0	111.0					16																	29908193		2197	4300	6497	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29908193G>A	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.461C>T	16.37:g.29908193G>A	ENSP00000312550:p.Thr154Met					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.T84M|SEZ6L2_uc002dur.3_Missense_Mutation_p.T84M|SEZ6L2_uc002dus.3_Missense_Mutation_p.T154M|SEZ6L2_uc010vec.1_Missense_Mutation_p.T154M|SEZ6L2_uc010ved.1_Missense_Mutation_p.T110M	p.T154M	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN			3	701	-			154			Thr-rich.|Extracellular (Potential).		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.461C>T	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829447	0.71258	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.45668	1.4;0.89;0.89;0.89	5.35	5.35	0.76521	.	0.517243	0.17842	N	0.160167	T	0.53270	0.1786	N	0.24115	0.695	0.54753	D	0.999988	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.83275	0.996;0.991;0.991;0.996;0.991;0.996	T	0.56691	-0.7937	10	0.62326	D	0.03	.	17.8253	0.88664	0.0:0.0:1.0:0.0	.	110;154;154;84;154;84	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	M	84;154;154;110	ENSP00000310206:T84M;ENSP00000312550:T154M;ENSP00000319215:T154M;ENSP00000439412:T110M	ENSP00000312550:T154M	T	-	2	0	SEZ6L2	29815694	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.497000	0.81536	2.518000	0.84900	0.555000	0.69702	ACG		0.672	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2		NM_012410		21	43	0	0	0	0.005443	0	21	43		
VPS35	55737	broad.mit.edu	37	16	46705699	46705699	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:46705699G>A	ENST00000299138.7	-	12	1500	c.1442C>T	c.(1441-1443)cCa>cTa	p.P481L	VPS35_ENST00000568642.1_5'Flank	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	481					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AAAATCTTCTGGATCAGGGTC	0.483																																						uc002eef.3		NaN																	0					0						c.(1441-1443)CCA>CTA		vacuolar protein sorting 35							67.0	59.0	62.0					16																	46705699		2203	4300	6503	SO:0001583	missense	55737				protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	g.chr16:46705699G>A	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.1442C>T	16.37:g.46705699G>A	ENSP00000299138:p.Pro481Leu					VPS35_uc002eed.2_Missense_Mutation_p.P302L|VPS35_uc002eee.2_Missense_Mutation_p.P442L	p.P481L	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN			12	1541	-		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	481					Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	ENST00000299138.7	37	c.1442C>T	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	.	18.60	3.659386	0.67586	.	.	ENSG00000069329	ENST00000299138;ENST00000541330	T	0.39997	1.05	5.1	5.1	0.69264	.	0.047921	0.85682	D	0.000000	T	0.41949	0.1181	L	0.46741	1.465	0.80722	D	1	B;B	0.20368	0.044;0.012	B;B	0.24701	0.055;0.007	T	0.25572	-1.0128	10	0.41790	T	0.15	-11.8327	18.5121	0.90920	0.0:0.0:1.0:0.0	.	481;346	Q96QK1;F5GYF5	VPS35_HUMAN;.	L	481;346	ENSP00000299138:P481L	ENSP00000299138:P481L	P	-	2	0	VPS35	45263200	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.366000	0.80165	0.491000	0.48974	CCA		0.483	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3				16	33	0	0	0	0.003163	0	16	33		
ABCC11	85320	broad.mit.edu	37	16	48244929	48244929	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:48244929G>A	ENST00000394747.1	-	10	1887	c.1538C>T	c.(1537-1539)gCc>gTc	p.A513V	ABCC11_ENST00000537808.1_Missense_Mutation_p.A513V|ABCC11_ENST00000353782.5_Missense_Mutation_p.A513V|ABCC11_ENST00000356608.2_Missense_Mutation_p.A513V|ABCC11_ENST00000394748.1_Missense_Mutation_p.A513V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	513	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TGGCCCGAGGGCATCTCTAGG	0.607																																						uc002eff.1		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1537-1539)GCC>GTC		ATP-binding cassette, sub-family C, member 11							106.0	88.0	94.0					16																	48244929		2201	4300	6501	SO:0001583	missense	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48244929G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1538C>T	16.37:g.48244929G>A	ENSP00000378230:p.Ala513Val					ABCC11_uc002efg.1_Missense_Mutation_p.A513V|ABCC11_uc002efh.1_Missense_Mutation_p.A513V|ABCC11_uc010vgk.1_RNA	p.A513V	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			10	1888	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	513			ABC transporter 1.|Cytoplasmic (Potential).		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.1538C>T	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	7.620	0.676656	0.14841	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.92752	-2.92;-2.82;-2.82;-2.82;-3.1	4.38	-2.18	0.07037	ABC transporter, transmembrane domain, type 1 (1);ABC transporter-like (1);	0.765432	0.11651	N	0.542786	T	0.76765	0.4033	N	0.19112	0.55	0.09310	N	1	B;P	0.40638	0.103;0.725	B;B	0.28709	0.085;0.093	T	0.69946	-0.5007	10	0.29301	T	0.29	-4.4373	2.1456	0.03786	0.1753:0.3289:0.3558:0.14	.	513;513	Q96J66-2;Q96J66	.;ABCCB_HUMAN	V	513	ENSP00000311326:A513V;ENSP00000349017:A513V;ENSP00000378231:A513V;ENSP00000378230:A513V;ENSP00000438530:A513V	ENSP00000311326:A513V	A	-	2	0	ABCC11	46802430	0.000000	0.05858	0.014000	0.15608	0.557000	0.35523	-0.249000	0.08842	-0.285000	0.09089	0.650000	0.86243	GCC		0.607	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1		NM_032583		20	54	0	0	0	0.007413	0	20	54		
SLC12A3	6559	broad.mit.edu	37	16	56921870	56921870	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:56921870C>G	ENST00000563236.1	+	18	2237	c.2212C>G	c.(2212-2214)Ctg>Gtg	p.L738V	SLC12A3_ENST00000438926.2_Missense_Mutation_p.L738V|SLC12A3_ENST00000262502.5_Missense_Mutation_p.L737V|SLC12A3_ENST00000566786.1_Missense_Mutation_p.L737V			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	738			L -> R (in GS). {ECO:0000269|PubMed:9734597}.		chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCCCAACATTCTGGTGGTTGG	0.602																																						uc010ccm.2		NaN																	0				ovary(2)|breast(1)	3						c.(2212-2214)CTG>GTG		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						62.0	59.0	60.0					16																	56921870		2198	4300	6498	SO:0001583	missense	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56921870C>G		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2212C>G	16.37:g.56921870C>G	ENSP00000456149:p.Leu738Val					SLC12A3_uc002ekd.3_Missense_Mutation_p.L738V|SLC12A3_uc010ccn.2_Missense_Mutation_p.L737V	p.L738V	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			18	2241	+			738		L -> R (in GS).	Cytoplasmic (Potential).		A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	c.2212C>G	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.048058	0.36085	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	4.67	4.67	0.58626	.	0.323215	0.27991	N	0.017039	T	0.54679	0.1873	L	0.41906	1.305	0.53005	D	0.999962	B;B;B	0.17465	0.004;0.013;0.022	B;B;B	0.26770	0.015;0.033;0.073	T	0.55205	-0.8177	9	0.52906	T	0.07	.	12.463	0.55743	0.0:0.9155:0.0:0.0845	.	737;738;738	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	V	737;738	.	ENSP00000262502:L738V	L	+	1	2	SLC12A3	55479371	0.015000	0.18098	0.999000	0.59377	0.952000	0.60782	0.272000	0.18644	2.317000	0.78254	0.563000	0.77884	CTG		0.602	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1				20	44	0	0	0	0.012319	0	20	44		
CDH16	1014	broad.mit.edu	37	16	66944399	66944399	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:66944399G>C	ENST00000299752.4	-	15	2124	c.1931C>G	c.(1930-1932)cCg>cGg	p.P644R	CDH16_ENST00000565796.1_Intron|CDH16_ENST00000570262.1_Missense_Mutation_p.P564R|CDH16_ENST00000394055.3_Intron|CDH16_ENST00000568632.1_Missense_Mutation_p.P547R	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	644	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GCTCAGTCTCGGCTCATCTGC	0.652																																						uc002eql.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1930-1932)CCG>CGG		cadherin 16 precursor							60.0	66.0	64.0					16																	66944399		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66944399G>C	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1931C>G	16.37:g.66944399G>C	ENSP00000299752:p.Pro644Arg					CDH16_uc010cdy.2_Intron|CDH16_uc002eqm.2_Missense_Mutation_p.P547R	p.P644R	NM_004062	NP_004053	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	15	2004	-		Ovarian(137;0.0563)	644			Extracellular (Potential).|Cadherin 6.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.1931C>G	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592262	0.66219	.	.	ENSG00000166589	ENST00000299752;ENST00000544875	T	0.65549	-0.16	4.78	3.82	0.43975	Cadherin (3);Cadherin-like (1);	0.220156	0.39341	N	0.001381	T	0.68796	0.3040	L	0.58810	1.83	0.80722	D	1	D;D	0.69078	0.997;0.986	P;P	0.60789	0.879;0.751	T	0.67719	-0.5598	9	.	.	.	-5.8605	8.6687	0.34137	0.1038:0.0:0.8962:0.0	.	644;644	B2R7S8;O75309	.;CAD16_HUMAN	R	644;608	ENSP00000299752:P644R	.	P	-	2	0	CDH16	65501900	0.918000	0.31147	0.775000	0.31657	0.881000	0.50899	1.902000	0.39848	1.242000	0.43836	0.455000	0.32223	CCG		0.652	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2		NM_004062		26	48	0	0	0	0.005443	0	26	48		
FBXL8	55336	broad.mit.edu	37	16	67197579	67197579	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:67197579C>T	ENST00000258200.3	+	3	1158	c.981C>T	c.(979-981)tgC>tgT	p.C327C	RP11-5A19.5_ENST00000518227.1_5'Flank|HSF4_ENST00000521374.1_5'Flank|FBXL8_ENST00000519917.1_Silent_p.C327C|HSF4_ENST00000584272.1_5'Flank|HSF4_ENST00000264009.8_5'UTR|HSF4_ENST00000421453.1_5'UTR			Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	327										endometrium(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		CGGCGCGCTGCGCGGCCCTGC	0.716																																						uc002erj.1		NaN																	0					0						c.(979-981)TGC>TGT		F-box and leucine-rich repeat protein 8							5.0	6.0	6.0					16																	67197579		2033	4061	6094	SO:0001819	synonymous_variant	55336						protein binding	g.chr16:67197579C>T	AK002140	CCDS10831.1	16q22.1-q22.3	2013-01-22			ENSG00000135722	ENSG00000135722		"""F-boxes / Leucine-rich repeats"""	17875	protein-coding gene	gene with protein product		609077					Standard	NM_018378		Approved	Fbl8	uc002erk.1	Q96CD0	OTTHUMG00000137514	ENST00000258200.3:c.981C>T	16.37:g.67197579C>T						FBXL8_uc002erk.1_Silent_p.C327C|HSF4_uc002erl.1_5'UTR|HSF4_uc002erm.1_5'UTR|HSF4_uc002ern.1_5'Flank|HSF4_uc010cec.1_5'Flank	p.C327C	NM_018378	NP_060848	Q96CD0	FBXL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)	3	1101	+		Ovarian(137;0.0563)	327					Q9NUM0	Silent	SNP	ENST00000258200.3	37	c.981C>T	CCDS10831.1																																																																																				0.716	FBXL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268834.2				10	14	0	0	0	0.006214	0	10	14		
NFAT5	10725	broad.mit.edu	37	16	69726188	69726188	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:69726188A>C	ENST00000354436.2	+	12	2724	c.2406A>C	c.(2404-2406)ttA>ttC	p.L802F	NFAT5_ENST00000393742.2_Missense_Mutation_p.L726F|NFAT5_ENST00000432919.1_Missense_Mutation_p.L820F|NFAT5_ENST00000349945.1_Missense_Mutation_p.L726F|NFAT5_ENST00000567239.1_Missense_Mutation_p.L819F|NFAT5_ENST00000566899.1_Missense_Mutation_p.L726F	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	802					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AACAAGTTTTAGAGGCACAGC	0.438																																						uc002exm.1		NaN																	0					0						c.(2404-2406)TTA>TTC		nuclear factor of activated T-cells 5 isoform c							103.0	100.0	101.0					16																	69726188		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726188A>C	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2406A>C	16.37:g.69726188A>C	ENSP00000346420:p.Leu802Phe					NFAT5_uc002exi.2_Missense_Mutation_p.L726F|NFAT5_uc002exj.1_Missense_Mutation_p.L726F|NFAT5_uc002exk.1_Missense_Mutation_p.L726F|NFAT5_uc002exl.1_Missense_Mutation_p.L820F|NFAT5_uc002exn.1_Missense_Mutation_p.L819F|NFAT5_uc002exo.1_5'Flank	p.L802F	NM_006599	NP_006590	O94916	NFAT5_HUMAN			12	3614	+			802					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.2406A>C	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	A	15.66	2.898990	0.52227	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.56275	0.5;0.47;0.54;0.47	6.08	2.61	0.31194	.	0.125962	0.35349	N	0.003278	T	0.58061	0.2096	L	0.56769	1.78	0.47214	D	0.999357	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.994;0.994	T	0.62666	-0.6806	10	0.51188	T	0.08	-2.6289	0.2311	0.00180	0.384:0.222:0.1802:0.2137	.	819;802;820	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	F	820;819;726;802;726	ENSP00000396538:L820F;ENSP00000338806:L726F;ENSP00000346420:L802F;ENSP00000377343:L726F	ENSP00000338806:L726F	L	+	3	2	NFAT5	68283689	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.152000	0.42272	2.333000	0.79357	0.533000	0.62120	TTA		0.438	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2		NM_138714		29	119	0	0	0	0.007291	0	29	119		
ZNF276	92822	broad.mit.edu	37	16	89789221	89789221	+	Missense_Mutation	SNP	G	G	C	rs199530258	byFrequency	TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:89789221G>C	ENST00000443381.2	+	2	585	c.488G>C	c.(487-489)gGt>gCt	p.G163A	ZNF276_ENST00000446326.2_5'UTR|VPS9D1_ENST00000389386.3_5'Flank|ZNF276_ENST00000289816.5_Missense_Mutation_p.G88A|ZNF276_ENST00000568064.1_Missense_Mutation_p.G88A	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	163					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TCCCCGGCTGGTCGCCGGAAG	0.592																																						uc002fos.3		NaN																	0					0						c.(487-489)GGT>GCT		zinc finger protein 276 isoform a							52.0	53.0	53.0					16																	89789221		2197	4298	6495	SO:0001583	missense	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89789221G>C	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.488G>C	16.37:g.89789221G>C	ENSP00000415836:p.Gly163Ala					C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.2_5'UTR|ZNF276_uc002fop.2_Missense_Mutation_p.G88A|ZNF276_uc002foq.3_Missense_Mutation_p.G88A|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_5'UTR|ZNF276_uc010cis.2_5'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_5'Flank|ZNF276_uc010cit.1_5'Flank	p.G163A	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	2	585	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	163					Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	c.488G>C	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319379	0.41096	.	.	ENSG00000158805	ENST00000289816;ENST00000443381	T;T	0.13778	2.64;2.56	5.55	4.58	0.56647	.	0.167679	0.52532	N	0.000064	T	0.17365	0.0417	M	0.66939	2.045	0.80722	D	1	B;B	0.30281	0.275;0.269	B;B	0.25405	0.044;0.06	T	0.02144	-1.1206	10	0.87932	D	0	-15.1464	13.6862	0.62517	0.0:0.1544:0.8456:0.0	.	163;88	Q8N554;Q8N554-2	ZN276_HUMAN;.	A	88;163	ENSP00000289816:G88A;ENSP00000415836:G163A	ENSP00000289816:G88A	G	+	2	0	ZNF276	88316722	0.993000	0.37304	0.056000	0.19401	0.003000	0.03518	3.423000	0.52756	1.312000	0.45043	0.655000	0.94253	GGT		0.592	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1		NM_152287		17	59	0	0	0	0.004007	0	17	59		
OR3A1	4994	broad.mit.edu	37	17	3194930	3194930	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:3194930C>G	ENST00000323404.1	-	1	946	c.947G>C	c.(946-948)tGa>tCa	p.*316S	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	0					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GAGACCTCCTCAAGCCAGTGA	0.473																																					GBM(20;287 516 18743 28660 36594)	uc002fvh.1		NaN																	0				kidney(2)|central_nervous_system(1)	3						c.(946-948)TGA>TCA		olfactory receptor, family 3, subfamily A,							64.0	61.0	62.0					17																	3194930		2203	4300	6503	SO:0001630	splice_region_variant	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3194930C>G	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.945+1G>C	17.37:g.3194930C>G							p.*316S	NM_002550	NP_002541	P47881	OR3A1_HUMAN			1	947	-			316					Q4VB06|Q6IFM4	Nonstop_Mutation	SNP	ENST00000323404.1	37	c.947G>C	CCDS11023.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.240986	0.22711	.	.	ENSG00000180090	ENST00000323404	.	.	.	4.53	0.224	0.15297	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.6505	0.08201	0.1657:0.4732:0.0:0.3611	.	.	.	.	S	316	.	.	X	-	2	2	OR3A1	3141680	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.442000	0.06871	0.006000	0.14734	-0.182000	0.12963	TGA		0.473	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			Nonstop_Mutation	13	56	0	0	0	0.001855	0	13	56		
ZZEF1	23140	broad.mit.edu	37	17	3957435	3957435	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:3957435C>T	ENST00000381638.2	-	34	5474	c.5350G>A	c.(5350-5352)Gat>Aat	p.D1784N	RNA5SP434_ENST00000516647.1_RNA	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1784							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TCACACCCATCACAAGAGATG	0.438																																						uc002fxe.2		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(5350-5352)GAT>AAT		zinc finger, ZZ type with EF hand domain 1							154.0	131.0	139.0					17																	3957435		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3957435C>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.5350G>A	17.37:g.3957435C>T	ENSP00000371051:p.Asp1784Asn					ZZEF1_uc002fxh.2_Missense_Mutation_p.D98N|ZZEF1_uc002fxi.2_Missense_Mutation_p.D19N|ZZEF1_uc002fxj.1_Missense_Mutation_p.D397N	p.D1784N	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			34	5414	-			1784			ZZ-type 1.		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.5350G>A	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	34	5.407524	0.96051	.	.	ENSG00000074755	ENST00000381638	D	0.90955	-2.76	6.17	6.17	0.99709	Zinc finger, ZZ-type (3);	0.000000	0.85682	D	0.000000	D	0.89643	0.6774	L	0.37750	1.13	0.80722	D	1	P;P	0.35923	0.523;0.528	P;B	0.45138	0.471;0.385	D	0.88822	0.3299	10	0.56958	D	0.05	-16.8555	14.9567	0.71120	0.0:0.9326:0.0:0.0674	.	1784;1784	O43149-2;O43149	.;ZZEF1_HUMAN	N	1784	ENSP00000371051:D1784N	ENSP00000371051:D1784N	D	-	1	0	ZZEF1	3904184	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.648000	0.61425	2.941000	0.99782	0.655000	0.94253	GAT		0.438	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1		NM_015113		16	77	0	0	0	0.003163	0	16	77		
CHRNE	1145	broad.mit.edu	37	17	4805975	4805975	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:4805975C>T	ENST00000293780.4	-	2	140	c.130G>A	c.(130-132)Gag>Aag	p.E44K	CHRNE_ENST00000575637.1_5'Flank|C17orf107_ENST00000381365.3_3'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	44					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	TCCTCAGGCTCCCGCACTGGC	0.542																																						uc002fzk.1		NaN																	0					0						c.(130-132)GAG>AAG		nicotinic acetylcholine receptor epsilon							146.0	154.0	151.0					17																	4805975		2203	4300	6503	SO:0001583	missense	1145				muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr17:4805975C>T	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.130G>A	17.37:g.4805975C>T	ENSP00000293780:p.Glu44Lys					C17orf107_uc002fzl.3_3'UTR	p.E44K	NM_000080	NP_000071	Q04844	ACHE_HUMAN			2	141	-			44			Extracellular (Potential).		D3DTK6	Missense_Mutation	SNP	ENST00000293780.4	37	c.130G>A	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	C	1.765	-0.485781	0.04352	.	.	ENSG00000108556	ENST00000293780	T	0.77750	-1.12	5.07	0.442	0.16582	Neurotransmitter-gated ion-channel ligand-binding (3);	1.020470	0.07765	N	0.950730	T	0.55065	0.1897	N	0.17312	0.475	0.09310	N	1	B	0.25390	0.125	B	0.21546	0.035	T	0.38478	-0.9659	10	0.16896	T	0.51	.	1.0041	0.01483	0.1973:0.4264:0.1691:0.2072	.	44	Q04844	ACHE_HUMAN	K	44	ENSP00000293780:E44K	ENSP00000293780:E44K	E	-	1	0	CHRNE	4746754	0.000000	0.05858	0.001000	0.08648	0.097000	0.18754	-1.455000	0.02379	0.301000	0.22738	-0.182000	0.12963	GAG		0.542	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3				60	109	0	0	0	0.01441	0	60	109		
TP53	7157	broad.mit.edu	37	17	7577079	7577079	+	Nonsense_Mutation	SNP	C	C	A	rs587782006		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:7577079C>A	ENST00000269305.4	-	8	1048	c.859G>T	c.(859-861)Gag>Tag	p.E287*	TP53_ENST00000359597.4_Nonsense_Mutation_p.E287*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.E287*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E287*|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E287*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	287	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.N288fs*13(17)|p.E287*(13)|p.0?(8)|p.E287K(6)|p.?(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.E287fs*17(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGAGATTCTCTTCCTCTGTG	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		60	Deletion - Frameshift(25)|Substitution - Nonsense(13)|Whole gene deletion(8)|Deletion - In frame(6)|Substitution - Missense(6)|Unknown(2)	p.N288fs*13(17)|p.E287*(8)|p.0?(7)|p.E287K(6)|p.E287E(5)|p.E287G(2)|p.E287D(2)|p.?(2)|p.R283fs*16(2)|p.E286fs*17(2)|p.E285_N288delEEEN(1)|p.E287V(1)|p.E287fs*17(1)|p.E287A(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.E285_L289delEEENL(1)	upper_aerodigestive_tract(20)|breast(6)|lung(6)|large_intestine(4)|bone(4)|liver(4)|stomach(3)|urinary_tract(3)|oesophagus(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|skin(2)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM044948	TP53	M		c.(859-861)GAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							97.0	83.0	88.0					17																	7577079		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577079C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.859G>T	17.37:g.7577079C>A	ENSP00000269305:p.Glu287*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.E287*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E155*|TP53_uc010cng.1_Nonsense_Mutation_p.E155*|TP53_uc002gii.1_Nonsense_Mutation_p.E155*|TP53_uc010cnh.1_Nonsense_Mutation_p.E287*|TP53_uc010cni.1_Nonsense_Mutation_p.E287*|TP53_uc002gij.2_Nonsense_Mutation_p.E287*	p.E287*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1053	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	287		E -> V (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.859G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403327	0.83230	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.12	4.15	0.48705	.	0.602197	0.18632	N	0.135543	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-7.7207	11.4307	0.50038	0.0:0.9127:0.0:0.0873	.	.	.	.	X	287;287;287;287;287;276;155	.	ENSP00000269305:E287X	E	-	1	0	TP53	7517804	1.000000	0.71417	0.955000	0.39395	0.167000	0.22549	4.360000	0.59455	1.381000	0.46364	-0.258000	0.10820	GAG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		22	21	1	0	3.62473e-10	0.012319	3.89916e-10	22	21		
NCOR1	9611	broad.mit.edu	37	17	15973488	15973488	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:15973488T>A	ENST00000268712.3	-	31	4761	c.4504A>T	c.(4504-4506)Act>Tct	p.T1502S	NCOR1_ENST00000395851.1_Missense_Mutation_p.T1518S|NCOR1_ENST00000395857.3_Missense_Mutation_p.T86S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1502	Interaction with C1D. {ECO:0000250}.|Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CCATCAGAAGTTCTGTTCATC	0.383																																						uc002gpo.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(4504-4506)ACT>TCT		nuclear receptor co-repressor 1							184.0	178.0	180.0					17																	15973488		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15973488T>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4504A>T	17.37:g.15973488T>A	ENSP00000268712:p.Thr1502Ser					NCOR1_uc002gpn.2_Missense_Mutation_p.T1518S|NCOR1_uc002gpp.1_Missense_Mutation_p.T1409S|NCOR1_uc002gpm.2_5'Flank|NCOR1_uc010vwb.1_Missense_Mutation_p.T86S|NCOR1_uc010coy.2_Missense_Mutation_p.T410S|NCOR1_uc010vwc.1_Missense_Mutation_p.T313S	p.T1502S	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	31	4744	-			1502			Interaction with ETO.|Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.4504A>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	T	11.08	1.534576	0.27475	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.41400	1.0;1.59;1.0	5.82	2.22	0.28083	.	0.466555	0.25900	N	0.027573	T	0.12689	0.0308	N	0.02011	-0.69	0.21325	N	0.99972	B;B;B;B	0.09022	0.0;0.002;0.0;0.0	B;B;B;B	0.08055	0.002;0.003;0.001;0.002	T	0.20538	-1.0272	10	0.12766	T	0.61	-4.0111	3.2582	0.06839	0.17:0.2881:0.0:0.542	.	313;1409;1502;1518	B4DZ48;E7EVK1;O75376;O75376-2	.;.;NCOR1_HUMAN;.	S	1502;1518;1409;86	ENSP00000268712:T1502S;ENSP00000379192:T1518S;ENSP00000379198:T86S	ENSP00000268712:T1502S	T	-	1	0	NCOR1	15914213	0.964000	0.33143	0.997000	0.53966	0.970000	0.65996	0.794000	0.26958	0.472000	0.27344	0.533000	0.62120	ACT		0.383	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5		NM_006311		36	151	0	0	0	0.00623	0	36	151		
TOP3A	7156	broad.mit.edu	37	17	18181485	18181485	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:18181485G>A	ENST00000321105.5	-	18	2545	c.2331C>T	c.(2329-2331)aaC>aaT	p.N777N	TOP3A_ENST00000542570.1_Silent_p.N682N|TOP3A_ENST00000540524.1_Silent_p.N307N	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	777					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GGTGCTGGCTGTTGTCCATCC	0.632																																						uc002gsx.1		NaN																	0				skin(3)	3						c.(2329-2331)AAC>AAT		topoisomerase (DNA) III alpha							59.0	66.0	64.0					17																	18181485		2203	4300	6503	SO:0001819	synonymous_variant	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18181485G>A	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.2331C>T	17.37:g.18181485G>A						TOP3A_uc010cpz.1_Silent_p.N229N|TOP3A_uc010vxr.1_Silent_p.N307N|TOP3A_uc002gsw.1_Silent_p.N229N|TOP3A_uc010vxs.1_Silent_p.N675N	p.N777N	NM_004618	NP_004609	Q13472	TOP3A_HUMAN			18	2560	-			777					A8KA61|B4DK80|D3DXC7|Q13473	Silent	SNP	ENST00000321105.5	37	c.2331C>T	CCDS11194.1																																																																																				0.632	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2				20	92	0	0	0	0.012319	0	20	92		
TRIM16L	147166	broad.mit.edu	37	17	18638504	18638504	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:18638504T>A	ENST00000449552.2	+	7	2262	c.778T>A	c.(778-780)Ttc>Atc	p.F260I	TRIM16L_ENST00000395902.3_Missense_Mutation_p.F314I|TRIM16L_ENST00000572555.1_Missense_Mutation_p.F260I|TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000395671.4_Missense_Mutation_p.F260I|TRIM16L_ENST00000395672.2_Missense_Mutation_p.F260I|TRIM16L_ENST00000571708.1_Missense_Mutation_p.F260I			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	260	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						CGGGAAGGAGTTCACGGCCTG	0.557																																						uc002gug.1		NaN																	0					0						c.(778-780)TTC>ATC		tripartite motif-containing 16-like							78.0	77.0	77.0					17																	18638504		2203	4297	6500	SO:0001583	missense	147166					cytoplasm		g.chr17:18638504T>A	DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"""tripartite motif-containing 16-like"""				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.778T>A	17.37:g.18638504T>A	ENSP00000461386:p.Phe260Ile					TRIM16L_uc010vyf.1_Missense_Mutation_p.F314I|TRIM16L_uc002guh.1_Missense_Mutation_p.F260I|TRIM16L_uc010cqg.1_Missense_Mutation_p.F362I|TRIM16L_uc002gui.1_Missense_Mutation_p.F260I|TRIM16L_uc010vyg.1_Missense_Mutation_p.F260I|TRIM16L_uc010vyh.1_3'UTR	p.F260I	NM_001037330	NP_001032407	Q309B1	TR16L_HUMAN			10	1465	+			260			B30.2/SPRY.		A0PK10|B2RUW6|B4DQK2|B4DWQ8	Missense_Mutation	SNP	ENST00000449552.2	37	c.778T>A	CCDS32588.1	.	.	.	.	.	.	.	.	.	.	t	8.227	0.803853	0.16467	.	.	ENSG00000108448	ENST00000395902;ENST00000395672;ENST00000395671	T;T;T	0.68331	-0.32;-0.32;-0.32	3.35	3.35	0.38373	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.124640	0.53938	U	0.000046	T	0.76011	0.3928	M	0.65498	2.005	0.39193	D	0.963003	D;D;D	0.63880	0.988;0.993;0.983	D;D;D	0.65874	0.913;0.939;0.936	T	0.78674	-0.2112	10	0.62326	D	0.03	-10.9243	9.7724	0.40598	0.0:0.0:0.0:1.0	.	314;476;260	B4DE22;B3KMJ2;Q309B1	.;.;TR16L_HUMAN	I	314;260;260	ENSP00000379239:F314I;ENSP00000379031:F260I;ENSP00000379030:F260I	ENSP00000379030:F260I	F	+	1	0	TRIM16L	18579229	1.000000	0.71417	0.982000	0.44146	0.167000	0.22549	4.353000	0.59411	1.396000	0.46663	0.163000	0.16589	TTC		0.557	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130670.3		NM_001037330		13	82	0	0	0	0.00499	0	13	82		
FBXL20	84961	broad.mit.edu	37	17	37427047	37427047	+	Splice_Site	SNP	A	A	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:37427047A>T	ENST00000264658.6	-	11	1149		c.e11+1		FBXL20_ENST00000583610.1_Splice_Site|FBXL20_ENST00000577399.1_Splice_Site|FBXL20_ENST00000394294.3_Splice_Site	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20						behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			GAAAATACTTACCCTGGCTAG	0.358																																						uc010wed.1		NaN																	0				ovary(1)	1						c.e11+1		F-box and leucine-rich repeat protein 20							64.0	62.0	62.0					17																	37427047		2203	4300	6503	SO:0001630	splice_region_variant	84961					cytoplasm		g.chr17:37427047A>T	BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"""F-boxes / Leucine-rich repeats"""	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.888+1T>A	17.37:g.37427047A>T						FBXL20_uc002hrt.2_Splice_Site_p.R296_splice|FBXL20_uc010cvu.2_Splice_Site_p.R264_splice	p.R296_splice	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	LUAD - Lung adenocarcinoma(14;0.146)		11	1109	-								A8K729|Q38J52	Splice_Site	SNP	ENST00000264658.6	37	c.888_splice	CCDS32640.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.078895	0.76528	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5751	0.76373	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBXL20	34680573	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.335000	0.96500	2.149000	0.67028	0.533000	0.62120	.		0.358	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2		NM_032875	Intron	17	17	0	0	0	0.008871	0	17	17		
KANSL1	284058	broad.mit.edu	37	17	44248600	44248600	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:44248600G>C	ENST00000262419.6	-	2	1380	c.910C>G	c.(910-912)Cgc>Ggc	p.R304G	KANSL1_ENST00000575318.1_Missense_Mutation_p.R304G|KANSL1_ENST00000576248.1_5'Flank|KANSL1_ENST00000572904.1_Missense_Mutation_p.R304G|KANSL1_ENST00000432791.1_Missense_Mutation_p.R304G|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Missense_Mutation_p.R304G	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	304					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											ACCTGTAAGCGCTTTTGTAAT	0.468																																						uc002ikb.2		NaN																	0				skin(2)	2						c.(910-912)CGC>GGC		hypothetical protein LOC284058							65.0	77.0	73.0					17																	44248600		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44248600G>C	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.910C>G	17.37:g.44248600G>C	ENSP00000262419:p.Arg304Gly					KIAA1267_uc002ikc.2_Missense_Mutation_p.R304G|KIAA1267_uc002ikd.2_Missense_Mutation_p.R304G|KIAA1267_uc010dav.2_Missense_Mutation_p.R304G	p.R304G	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN			1	995	-		Melanoma(429;0.211)	304			Potential.		A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.910C>G	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912183	0.72983	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.12672	2.66;2.66	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.31295	0.0792	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.992	T	0.00514	-1.1695	10	0.87932	D	0	-9.2612	19.1573	0.93516	0.0:0.0:1.0:0.0	.	304;304	C9JHY2;Q7Z3B3	.;K1267_HUMAN	G	304	ENSP00000262419:R304G;ENSP00000387393:R304G	ENSP00000262419:R304G	R	-	1	0	KIAA1267	41604377	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.209000	0.95087	2.873000	0.98535	0.561000	0.74099	CGC		0.468	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1		NM_015443		23	143	0	0	0	0.014323	0	23	143		
TLK2	11011	broad.mit.edu	37	17	60654136	60654136	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:60654136G>C	ENST00000326270.9	+	14	1522	c.1254G>C	c.(1252-1254)aaG>aaC	p.K418N	TLK2_ENST00000542523.1_Splice_Site_p.K364N|TLK2_ENST00000346027.5_Splice_Site_p.K396N|TLK2_ENST00000582809.1_Splice_Site_p.K247N|TLK2_ENST00000343388.7_Splice_Site_p.K364N	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	418					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						ATCTTAAAAAGGTAAGTATAA	0.343																																						uc010ddp.2		NaN																	0				stomach(1)|kidney(1)	2						c.(1252-1254)AAG>AAC		tousled-like kinase 2 isoform A							84.0	83.0	83.0					17																	60654136		2203	4300	6503	SO:0001630	splice_region_variant	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60654136G>C	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.1254+1G>C	17.37:g.60654136G>C						TLK2_uc002izx.3_Missense_Mutation_p.K244N|TLK2_uc002izz.3_Missense_Mutation_p.K396N|TLK2_uc002jaa.3_Missense_Mutation_p.K364N|TLK2_uc010wpd.1_Missense_Mutation_p.K364N	p.K418N	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN			14	1522	+			418			Potential.		D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37	c.1254G>C		.	.	.	.	.	.	.	.	.	.	G	10.60	1.395468	0.25205	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.68624	-0.31;-0.34;-0.31;-0.34	5.57	1.99	0.26369	.	0.048350	0.85682	D	0.000000	T	0.79203	0.4406	M	0.83774	2.66	0.80722	D	1	P;P;B;D	0.76494	0.932;0.863;0.114;0.999	P;P;B;D	0.68765	0.501;0.729;0.253;0.96	T	0.78280	-0.2265	10	0.87932	D	0	-2.3328	9.1084	0.36712	0.2739:0.0:0.7261:0.0	.	418;364;396;396	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	N	396;364;418;364	ENSP00000275780:K396N;ENSP00000340800:K364N;ENSP00000316512:K418N;ENSP00000442311:K364N	ENSP00000316512:K418N	K	+	3	2	TLK2	58007868	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	5.632000	0.67819	0.222000	0.20900	-0.252000	0.11476	AAG		0.343	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1		NM_006852	Missense_Mutation	59	40	0	0	0	0.01441	0	59	40		
PRKCA	5578	broad.mit.edu	37	17	64299005	64299005	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:64299005G>A	ENST00000413366.3	+	1	62	c.36G>A	c.(34-36)gcG>gcA	p.A12A	PRKCA_ENST00000583361.1_3'UTR	NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	12					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	ACTCCACGGCGTCTCAGGACG	0.677																																						uc002jfp.1		NaN																	0				central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	9						c.(34-36)GCG>GCA		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						65.0	52.0	56.0					17																	64299005		2203	4300	6503	SO:0001819	synonymous_variant	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64299005G>A		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.36G>A	17.37:g.64299005G>A						PRKCA_uc002jfo.1_5'UTR	p.A12A	NM_002737	NP_002728	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		1	80	+			12					B5BU22|Q15137|Q32M72|Q96RE4	Silent	SNP	ENST00000413366.3	37	c.36G>A	CCDS11664.1																																																																																				0.677	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1				19	27	0	0	0	0.006122	0	19	27		
CASKIN2	57513	broad.mit.edu	37	17	73498037	73498037	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:73498037C>T	ENST00000321617.3	-	18	3704	c.3118G>A	c.(3118-3120)Gag>Aag	p.E1040K	CASKIN2_ENST00000433559.2_Missense_Mutation_p.E958K	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1040	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGCTGGGCTCGGGCTGGGGA	0.697																																						uc002joc.2		NaN																	0				pancreas(1)	1						c.(3118-3120)GAG>AAG		cask-interacting protein 2 isoform a							40.0	53.0	49.0					17																	73498037		2203	4299	6502	SO:0001583	missense	57513					cytoplasm		g.chr17:73498037C>T	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.3118G>A	17.37:g.73498037C>T	ENSP00000325355:p.Glu1040Lys					CASKIN2_uc010wsc.1_Missense_Mutation_p.E958K	p.E1040K	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	3668	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		1040			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.3118G>A	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	C	6.547	0.469202	0.12461	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.70749	-0.51;-0.33	5.0	4.04	0.47022	.	0.958175	0.08594	N	0.922565	T	0.51193	0.1660	N	0.14661	0.345	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.26052	-1.0114	10	0.07482	T	0.82	.	10.4229	0.44361	0.0:0.9092:0.0:0.0908	.	1040	Q8WXE0	CSKI2_HUMAN	K	1040;958	ENSP00000325355:E1040K;ENSP00000406963:E958K	ENSP00000325355:E1040K	E	-	1	0	CASKIN2	71009632	0.690000	0.27699	0.435000	0.26784	0.007000	0.05969	0.423000	0.21313	1.348000	0.45733	-0.218000	0.12543	GAG		0.697	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1		NM_020753		29	57	0	0	0	0.007291	0	29	57		
ARHGAP28	79822	broad.mit.edu	37	18	6890047	6890047	+	Missense_Mutation	SNP	T	T	A	rs199782367		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr18:6890047T>A	ENST00000383472.4	+	13	1801	c.1697T>A	c.(1696-1698)aTc>aAc	p.I566N	ARHGAP28_ENST00000418986.1_Missense_Mutation_p.I407N|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.I407N|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.I402N|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.I389N|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.I566N|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.I407N|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.I514N			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	566	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GCCCACATCATCCGCCTAATG	0.443																																						uc010wzi.1		NaN																	0				pancreas(1)	1						c.(1165-1167)ATC>AAC		SubName: Full=Putative uncharacterized protein ARHGAP28;							126.0	120.0	122.0					18																	6890047		2203	4300	6503	SO:0001583	missense	79822				signal transduction	intracellular		g.chr18:6890047T>A	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1697T>A	18.37:g.6890047T>A	ENSP00000372964:p.Ile566Asn					ARHGAP28_uc002knc.2_Missense_Mutation_p.I514N|ARHGAP28_uc002knd.2_Missense_Mutation_p.I407N|ARHGAP28_uc002kne.2_Missense_Mutation_p.I407N|ARHGAP28_uc002knf.2_Missense_Mutation_p.I398N	p.I389N			B4DXL2	B4DXL2_HUMAN			12	1404	+		Colorectal(10;0.168)	389					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37	c.1166T>A		.	.	.	.	.	.	.	.	.	.	T	26.4	4.732133	0.89390	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.96	5.8	5.8	0.92144	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.221418	0.46145	D	0.000307	T	0.54983	0.1892	L	0.39898	1.24	0.41443	D	0.987931	D;D;D;D	0.58970	0.984;0.966;0.98;0.96	P;P;P;P	0.56216	0.794;0.61;0.782;0.782	T	0.59043	-0.7528	10	0.87932	D	0	.	15.1287	0.72503	0.0:0.0:0.0:1.0	.	566;398;407;514	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	N	566;514;407;402;407;407;398;389	ENSP00000382963:I566N;ENSP00000262227:I514N;ENSP00000392660:I407N;ENSP00000437262:I402N;ENSP00000313506:I407N;ENSP00000406907:I407N;ENSP00000435990:I398N	ENSP00000262227:I514N	I	+	2	0	ARHGAP28	6880047	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.564000	0.73969	2.219000	0.72066	0.533000	0.62120	ATC		0.443	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3		XM_371108		47	98	0	0	0	0.01441	0	47	98		
ANKRD29	147463	broad.mit.edu	37	18	21226188	21226188	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr18:21226188C>T	ENST00000592179.1	-	3	350	c.196G>A	c.(196-198)Gtt>Att	p.V66I	ANKRD29_ENST00000322980.9_Missense_Mutation_p.V66I|ANKRD29_ENST00000284207.7_Missense_Mutation_p.V66I	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	66										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCTTGCAGAACCAGTTCCCTC	0.498																																						uc002kun.2		NaN																	0				ovary(3)|breast(1)	4						c.(196-198)GTT>ATT		ankyrin repeat domain 29							113.0	98.0	103.0					18																	21226188		2203	4300	6503	SO:0001583	missense	147463							g.chr18:21226188C>T	AK057782	CCDS11879.1	18q11.2	2013-01-10			ENSG00000154065	ENSG00000154065		"""Ankyrin repeat domain containing"""	27110	protein-coding gene	gene with protein product							Standard	NM_173505		Approved	FLJ25053	uc002kun.3	Q8N6D5	OTTHUMG00000131875	ENST00000592179.1:c.196G>A	18.37:g.21226188C>T	ENSP00000468354:p.Val66Ile					ANKRD29_uc002kuo.2_Missense_Mutation_p.V66I	p.V66I	NM_173505	NP_775776	Q8N6D5	ANR29_HUMAN			3	353	-	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)		66			ANK 2.		B2R972|Q6ZWE8|Q96LU9	Missense_Mutation	SNP	ENST00000592179.1	37	c.196G>A	CCDS11879.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.766485	0.31228	.	.	ENSG00000154065	ENST00000322980;ENST00000284207	T;T	0.62232	0.04;0.07	5.72	5.72	0.89469	Ankyrin repeat-containing domain (4);	0.114673	0.64402	D	0.000013	T	0.44117	0.1278	N	0.13198	0.31	0.43448	D	0.995636	B;B	0.10296	0.002;0.003	B;B	0.14578	0.002;0.011	T	0.42932	-0.9422	10	0.02654	T	1	.	18.6436	0.91404	0.0:1.0:0.0:0.0	.	66;66	Q8N6D5-3;Q8N6D5	.;ANR29_HUMAN	I	66	ENSP00000323387:V66I;ENSP00000284207:V66I	ENSP00000284207:V66I	V	-	1	0	ANKRD29	19480186	1.000000	0.71417	0.939000	0.37840	0.912000	0.54170	5.000000	0.63940	2.700000	0.92200	0.561000	0.74099	GTT		0.498	ANKRD29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254825.1		NM_173505		15	43	0	0	0	0.004007	0	15	43		
KLHL14	57565	broad.mit.edu	37	18	30350174	30350174	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr18:30350174C>T	ENST00000359358.4	-	2	819	c.381G>A	c.(379-381)ctG>ctA	p.L127L	KLHL14_ENST00000358095.4_Silent_p.L127L|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	127	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						AGCAGCCCTGCAGCACCAGGT	0.677																																						uc002kxm.1		NaN																	0				ovary(1)	1						c.(379-381)CTG>CTA		kelch-like 14							81.0	87.0	85.0					18																	30350174		2203	4300	6503	SO:0001819	synonymous_variant	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30350174C>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.381G>A	18.37:g.30350174C>T							p.L127L	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN			2	769	-			127			BTB.		A6NNW1|B4DHA0|Q8WU41	Silent	SNP	ENST00000359358.4	37	c.381G>A	CCDS32813.1																																																																																				0.677	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1				38	118	0	0	0	0.011902	0	38	118		
NEDD4L	23327	broad.mit.edu	37	18	56033354	56033354	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr18:56033354G>A	ENST00000400345.3	+	21	2240	c.1957G>A	c.(1957-1959)Gaa>Aaa	p.E653K	NEDD4L_ENST00000382850.4_Missense_Mutation_p.E633K|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_Missense_Mutation_p.E625K|NEDD4L_ENST00000456986.1_Missense_Mutation_p.E532K|NEDD4L_ENST00000431212.2_Missense_Mutation_p.E532K|NEDD4L_ENST00000256830.9_Missense_Mutation_p.E549K|NEDD4L_ENST00000435432.2_Missense_Mutation_p.E512K|NEDD4L_ENST00000256832.7_Missense_Mutation_p.E513K|NEDD4L_ENST00000357895.5_Missense_Mutation_p.E645K|NEDD4L_ENST00000456173.2_Missense_Mutation_p.E512K|NEDD4L_ENST00000356462.6_Missense_Mutation_p.E589K	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	653	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						GATTGAGTTTGAATCAGAGAA	0.418																																						uc002lgy.2		NaN																	0				lung(4)	4						c.(1957-1959)GAA>AAA		neural precursor cell expressed, developmentally							109.0	105.0	106.0					18																	56033354		1874	4109	5983	SO:0001583	missense	23327				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:56033354G>A	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.1957G>A	18.37:g.56033354G>A	ENSP00000383199:p.Glu653Lys					NEDD4L_uc002lgz.2_Missense_Mutation_p.E589K|NEDD4L_uc002lgx.2_Missense_Mutation_p.E633K|NEDD4L_uc010xee.1_Missense_Mutation_p.E532K|NEDD4L_uc002lhc.2_Missense_Mutation_p.E645K|NEDD4L_uc002lhd.2_Missense_Mutation_p.E532K|NEDD4L_uc002lhb.2_Missense_Mutation_p.E512K|NEDD4L_uc002lhe.2_Missense_Mutation_p.E625K|NEDD4L_uc002lhf.2_Missense_Mutation_p.E512K|NEDD4L_uc002lhg.2_Missense_Mutation_p.E532K|NEDD4L_uc002lhh.2_Missense_Mutation_p.E428K|NEDD4L_uc010dpn.2_5'UTR	p.E653K	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN			21	2231	+			653			HECT.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	37	c.1957G>A	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723868	0.89298	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.54	5.54	0.83059	HECT (3);	0.000000	0.85682	D	0.000000	T	0.53417	0.1795	L	0.31371	0.925	0.80722	D	1	P;P;D;D;P;P	0.59767	0.879;0.806;0.986;0.979;0.809;0.879	B;P;P;D;B;B	0.63033	0.246;0.471;0.88;0.91;0.163;0.246	T	0.54603	-0.8269	10	0.66056	D	0.02	.	19.8487	0.96730	0.0:0.0:1.0:0.0	.	625;645;512;589;653;633	Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;NED4L_HUMAN;.	K	653;633;589;549;513;532;645;512;512;532	ENSP00000383199:E653K;ENSP00000372301:E633K;ENSP00000348847:E589K;ENSP00000256830:E549K;ENSP00000256832:E513K;ENSP00000411947:E532K;ENSP00000350569:E645K;ENSP00000393395:E512K;ENSP00000405440:E512K;ENSP00000389406:E532K	ENSP00000256830:E549K	E	+	1	0	NEDD4L	54184334	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.748000	0.94277	0.650000	0.86243	GAA		0.418	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1				12	13	0	0	0	0.013537	0	12	13		
RTTN	25914	broad.mit.edu	37	18	67860668	67860668	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr18:67860668G>A	ENST00000255674.6	-	8	1149	c.863C>T	c.(862-864)tCt>tTt	p.S288F	RTTN_ENST00000437017.1_Missense_Mutation_p.S288F|RTTN_ENST00000454359.1_Missense_Mutation_p.S288F	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	288					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ATAAGACAAAGAAGAATTTTG	0.418																																						uc002lkp.2		NaN																	0				ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(862-864)TCT>TTT		rotatin							77.0	76.0	76.0					18																	67860668		1856	4092	5948	SO:0001583	missense	25914						binding	g.chr18:67860668G>A	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.863C>T	18.37:g.67860668G>A	ENSP00000255674:p.Ser288Phe					RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.S288F	p.S288F	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			8	931	-		Esophageal squamous(42;0.129)	288					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.863C>T	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764919	0.31228	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.77229	-0.47;-0.47;-1.08	5.34	4.46	0.54185	Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	D	0.83764	0.5325	M	0.68952	2.095	0.45108	D	0.998129	B;D	0.62365	0.202;0.991	B;D	0.64506	0.067;0.926	T	0.83221	-0.0068	10	0.48119	T	0.1	.	9.4651	0.38809	0.0747:0.1447:0.7806:0.0	.	288;288	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	F	288	ENSP00000255674:S288F;ENSP00000402352:S288F;ENSP00000399520:S288F	ENSP00000255674:S288F	S	-	2	0	RTTN	66011648	1.000000	0.71417	0.969000	0.41365	0.932000	0.56968	7.387000	0.79785	1.228000	0.43614	0.591000	0.81541	TCT		0.418	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1		NM_173630		14	42	0	0	0	0.003163	0	14	42		
C19orf25	148223	broad.mit.edu	37	19	1475148	1475148	+	Silent	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:1475148G>T	ENST00000436106.2	-	3	635	c.240C>A	c.(238-240)ggC>ggA	p.G80G	C19orf25_ENST00000591027.1_5'Flank|C19orf25_ENST00000588849.1_3'UTR|C19orf25_ENST00000588427.1_Intron|C19orf25_ENST00000585675.1_Silent_p.G80G|C19orf25_ENST00000586564.1_Silent_p.G80G|C19orf25_ENST00000592872.1_Silent_p.G80G|C19orf25_ENST00000427685.2_Silent_p.G120G|C19orf25_ENST00000588871.1_Silent_p.G80G			Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25	80													Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGCACGTTGCCCGCCTGCT	0.672																																						uc002lsy.3		NaN																	0					0						c.(238-240)GGC>GGA		hypothetical protein LOC148223							9.0	12.0	11.0					19																	1475148		2102	4207	6309	SO:0001819	synonymous_variant	148223						protein binding	g.chr19:1475148G>T	AK075267	CCDS45898.1	19p13.3	2012-10-24			ENSG00000119559	ENSG00000119559			26711	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_152482		Approved	FLJ36666	uc010dsk.3	Q9UFG5	OTTHUMG00000180092	ENST00000436106.2:c.240C>A	19.37:g.1475148G>T						C19orf25_uc010xgn.1_Intron|C19orf25_uc010dsk.2_Silent_p.G80G|C19orf25_uc010xgo.1_Silent_p.G120G|C19orf25_uc002lsx.1_3'UTR	p.G80G	NM_152482	NP_689695	Q9UFG5	CS025_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	455	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	80					B3KQN6|Q8N9R7|Q8WV94	Silent	SNP	ENST00000436106.2	37	c.240C>A	CCDS45898.1																																																																																				0.672	C19orf25-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449694.1		NM_152482		7	4	1	0	0.00198382	0.001984	0.00201935	7	4		
PTPRS	5802	broad.mit.edu	37	19	5258028	5258028	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:5258028C>T	ENST00000587303.1	-	7	805	c.706G>A	c.(706-708)Gag>Aag	p.E236K	PTPRS_ENST00000357368.4_Splice_Site_p.E236K|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Splice_Site_p.V236I|PTPRS_ENST00000372412.4_Splice_Site_p.E237K|PTPRS_ENST00000588012.1_Splice_Site_p.V227I|PTPRS_ENST00000592099.1_Splice_Site_p.V227I|PTPRS_ENST00000348075.2_Splice_Site_p.V227I|PTPRS_ENST00000353284.2_Splice_Site_p.V227I			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	236					cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CGTTCCCTACCTCGCACGTAG	0.662																																						uc002mbv.2		NaN																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)	4						c.(706-708)GAG>AAG		protein tyrosine phosphatase, receptor type,							98.0	94.0	95.0					19																	5258028		2203	4300	6503	SO:0001630	splice_region_variant	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5258028C>T	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.706+1G>A	19.37:g.5258028C>T						PTPRS_uc002mbu.1_Missense_Mutation_p.V227I|PTPRS_uc010xin.1_Missense_Mutation_p.V227I|PTPRS_uc002mbw.2_Missense_Mutation_p.V227I|PTPRS_uc002mbx.2_Missense_Mutation_p.E227K|PTPRS_uc002mby.2_Missense_Mutation_p.V227I	p.E236K	NM_002850	NP_002841	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	8	940	-			236			Extracellular (Potential).		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.706G>A	CCDS45930.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	20.3|20.3|20.3	3.960281|3.960281|3.960281	0.74016|0.74016|0.74016	.|.|.	.|.|.	ENSG00000105426|ENSG00000105426|ENSG00000105426	ENST00000544524|ENST00000372412;ENST00000357368|ENST00000536396;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000353284	.|T;T|T;T;T	.|0.55234|0.56941	.|1.46;0.53|0.43;1.03;1.03	3.59|3.59|3.59	3.59|3.59|3.59	0.41128|0.41128|0.41128	.|.|.	.|.|0.572307	.|.|0.13850	.|.|U	.|.|0.358447	T|T|T	0.65811|0.65811|0.65811	0.2727|0.2727|0.2727	M|M|M	0.65975|0.65975|0.65975	2.015|2.015|2.015	0.37525|0.37525|0.37525	D|D|D	0.917682|0.917682|0.917682	.|B|B;B;P;P	.|0.23735|0.49447	.|0.09|0.072;0.04;0.557;0.924	.|B|B;B;B;P	.|0.17433|0.56216	.|0.018|0.032;0.012;0.08;0.794	T|T|T	0.70051|0.70051|0.70051	-0.4978|-0.4978|-0.4978	5|8|9	.|.|.	.|.|.	.|.|.	.|.|.	15.4058|15.4058|15.4058	0.74877|0.74877|0.74877	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|236|240;227;227;253	.|Q13332|F8W800;Q13332-7;Q13332-6;Q59FX6	.|PTPRS_HUMAN|.;.;.;.	T|K|I	227|237;236|253;236;236;236;227;236;227	.|ENSP00000361489:E237K;ENSP00000349932:E236K|ENSP00000262963:V236I;ENSP00000269907:V227I;ENSP00000327313:V227I	.|.|.	A|E|V	-|-|-	1|1|1	0|0|0	PTPRS|PTPRS|PTPRS	5209028|5209028|5209028	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.992000|0.992000|0.992000	0.81027|0.81027|0.81027	7.539000|7.539000|7.539000	0.82063|0.82063|0.82063	1.854000|1.854000|1.854000	0.53819|0.53819|0.53819	0.555000|0.555000|0.555000	0.69702|0.69702|0.69702	GCT|GAG|GTC;GTT;GTT;GTC;GTC;GTT;GTC		0.662	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			Missense_Mutation	32	59	0	0	0	0.010818	0	32	59		
RPL36	25873	broad.mit.edu	37	19	5691448	5691448	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:5691448A>C	ENST00000577222.1	+	5	756	c.212A>C	c.(211-213)aAa>aCa	p.K71T	RPL36_ENST00000579446.1_Missense_Mutation_p.K71T|RPL36_ENST00000579649.1_Missense_Mutation_p.K71T|RPL36_ENST00000347512.3_Missense_Mutation_p.K71T|RPL36_ENST00000394580.2_Missense_Mutation_p.K71T			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	71					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						CGGGCCCTCAAATTTATCAAG	0.647											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mcv.2		NaN																	0					0						c.(211-213)AAA>ACA		ribosomal protein L36							39.0	45.0	43.0					19																	5691448		2203	4297	6500	SO:0001583	missense	25873				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome	g.chr19:5691448A>C		CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"""L ribosomal proteins"""	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8		ENST00000577222.1:c.212A>C	19.37:g.5691448A>C	ENSP00000464342:p.Lys71Thr		OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	628	RPL36_uc002mcw.2_Missense_Mutation_p.K71T	p.K71T	NM_033643	NP_378669	Q9Y3U8	RL36_HUMAN			3	281	+			71					B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Missense_Mutation	SNP	ENST00000577222.1	37	c.212A>C	CCDS12147.1	.	.	.	.	.	.	.	.	.	.	A	16.87	3.241923	0.58995	.	.	ENSG00000130255	ENST00000347512;ENST00000394580	T;T	0.60299	0.2;0.2	4.21	3.19	0.36642	.	0.000000	0.85682	U	0.000000	T	0.82079	0.4959	H	0.97962	4.115	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.82196	-0.0577	10	0.87932	D	0	.	7.764	0.28970	0.8949:0.0:0.1051:0.0	.	71	Q9Y3U8	RL36_HUMAN	T	71	ENSP00000252543:K71T;ENSP00000378081:K71T	ENSP00000252543:K71T	K	+	2	0	RPL36	5642448	1.000000	0.71417	0.995000	0.50966	0.285000	0.27093	7.216000	0.77974	0.487000	0.27698	0.383000	0.25322	AAA		0.647	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442561.1		NM_015414		26	67	0	0	0	0.003954	0	26	67		
NRTN	4902	broad.mit.edu	37	19	5824219	5824219	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:5824219A>G	ENST00000303212.2	+	1	407	c.43A>G	c.(43-45)Agc>Ggc	p.S15G	AC011499.1_ENST00000579264.1_RNA	NM_004558.3	NP_004549.1	Q99748	NRTN_HUMAN	neurturin	15					axon guidance (GO:0007411)|MAPK cascade (GO:0000165)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|extracellular region (GO:0005576)	receptor binding (GO:0005102)			large_intestine(1)	1						AGTGCTCTGCAGCTCCGTGCT	0.697																																						uc002mde.2		NaN																	0					0						c.(43-45)AGC>GGC		neurturin preproprotein							52.0	46.0	48.0					19																	5824219		2203	4299	6502	SO:0001583	missense	4902				axon guidance|MAPKKK cascade|neural crest cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region	growth factor activity	g.chr19:5824219A>G	U78110	CCDS12151.1	19p13.3	2014-01-30				ENSG00000171119		"""Endogenous ligands"""	8007	protein-coding gene	gene with protein product	"""prepro-neurturin"""	602018				8945474	Standard	NM_004558		Approved	NTN	uc002mde.3	Q99748		ENST00000303212.2:c.43A>G	19.37:g.5824219A>G	ENSP00000302648:p.Ser15Gly						p.S15G	NM_004558	NP_004549	Q99748	NRTN_HUMAN			1	402	+			15					B2RPE8	Missense_Mutation	SNP	ENST00000303212.2	37	c.43A>G	CCDS12151.1	.	.	.	.	.	.	.	.	.	.	A	18.26	3.585142	0.66105	.	.	ENSG00000171119	ENST00000303212	D	0.85339	-1.97	4.24	4.24	0.50183	.	0.146814	0.48286	D	0.000181	T	0.75613	0.3873	L	0.27053	0.805	0.32852	D	0.506822	B	0.09022	0.002	B	0.14023	0.01	T	0.77159	-0.2690	10	0.52906	T	0.07	-14.3952	10.0308	0.42099	1.0:0.0:0.0:0.0	.	15	Q99748	NRTN_HUMAN	G	15	ENSP00000302648:S15G	ENSP00000302648:S15G	S	+	1	0	NRTN	5775219	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.450000	0.60041	1.704000	0.51252	0.459000	0.35465	AGC		0.697	NRTN-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451882.2		NM_004558		6	17	0	0	0	0.001168	0	6	17		
MCOLN1	57192	broad.mit.edu	37	19	7592790	7592790	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:7592790A>G	ENST00000264079.6	+	6	846	c.721A>G	c.(721-723)Aac>Gac	p.N241D		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	241					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GAAGACCATTAACCTCCAGAG	0.612																																						uc002mgo.2		NaN																	0				breast(1)	1						c.(721-723)AAC>GAC		mucolipin 1							76.0	79.0	78.0					19																	7592790		2203	4300	6503	SO:0001583	missense	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7592790A>G	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.721A>G	19.37:g.7592790A>G	ENSP00000264079:p.Asn241Asp					MCOLN1_uc002mgp.2_Missense_Mutation_p.N206D	p.N241D	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN			6	846	+			241					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	c.721A>G	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.152466	0.57259	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	T	0.71579	-0.58	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.65626	0.2709	L	0.51914	1.62	0.80722	D	1	B;P	0.46784	0.074;0.884	B;B	0.43155	0.219;0.41	T	0.63664	-0.6586	10	0.23302	T	0.38	.	13.0738	0.59075	1.0:0.0:0.0:0.0	.	206;241	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	D	241;206	ENSP00000264079:N241D	ENSP00000264079:N241D	N	+	1	0	MCOLN1	7498790	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.072000	0.76777	1.979000	0.57680	0.482000	0.46254	AAC		0.612	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2		NM_020533		14	48	0	0	0	0.003163	0	14	48		
MUC16	94025	broad.mit.edu	37	19	9086960	9086960	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:9086960C>G	ENST00000397910.4	-	1	5058	c.4855G>C	c.(4855-4857)Gag>Cag	p.E1619Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1619	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGCCAGTCTCAATCTCTCTG	0.512																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(4855-4857)GAG>CAG		mucin 16							238.0	228.0	231.0					19																	9086960		2024	4186	6210	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9086960C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4855G>C	19.37:g.9086960C>G	ENSP00000381008:p.Glu1619Gln						p.E1619Q	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	5059	-			1619			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.4855G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	1.446	-0.566391	0.03910	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.33	-2.65	0.06095	.	.	.	.	.	T	0.01222	0.0040	N	0.08118	0	.	.	.	P	0.46020	0.871	B	0.34931	0.192	T	0.42699	-0.9436	8	0.87932	D	0	.	2.1562	0.03813	0.2488:0.3525:0.0:0.3987	.	1619	B5ME49	.	Q	1619	ENSP00000381008:E1619Q	ENSP00000381008:E1619Q	E	-	1	0	MUC16	8947960	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.023000	0.12456	-1.100000	0.03030	0.313000	0.20887	GAG		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		57	117	0	0	0	0.01441	0	57	117		
STX10	8677	broad.mit.edu	37	19	13255242	13255242	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:13255242G>C	ENST00000587230.1	-	8	796	c.732C>G	c.(730-732)atC>atG	p.I244M	STX10_ENST00000242770.5_3'UTR|STX10_ENST00000343587.5_Missense_Mutation_p.I195M|STX10_ENST00000589083.1_3'UTR	NM_001271609.1	NP_001258538.1	O60499	STX10_HUMAN	syntaxin 10	244					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.I244M(1)		breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			AGAATAGTAAGATGAGAACGA	0.627																																						uc010xnb.1		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(730-732)ATC>ATG		syntaxin 10							86.0	82.0	83.0					19																	13255242		2203	4299	6502	SO:0001583	missense	8677				Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity	g.chr19:13255242G>C	AF035531	CCDS32922.1, CCDS62569.1, CCDS62570.1, CCDS62571.1	19p13.13	2008-07-22				ENSG00000104915			11428	protein-coding gene	gene with protein product		603765				9446797	Standard	NM_003765		Approved	hsyn10, SYN10	uc021upq.2	O60499		ENST00000587230.1:c.732C>G	19.37:g.13255242G>C	ENSP00000466298:p.Ile244Met					STX10_uc002mwn.2_3'UTR|STX10_uc002mwo.2_3'UTR|STX10_uc010xna.1_RNA|STX10_uc010xnc.1_Missense_Mutation_p.I145M	p.I244M	NM_003765	NP_003756	O60499	STX10_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)		8	732	-			244			Helical; Anchor for type IV membrane protein; (Potential).		A6NC41|Q6IAP4|Q96AE8	Missense_Mutation	SNP	ENST00000587230.1	37	c.732C>G	CCDS32922.1	.	.	.	.	.	.	.	.	.	.	G	9.498	1.102369	0.20632	.	.	ENSG00000104915	ENST00000343587;ENST00000242770	.	.	.	3.7	1.54	0.23209	.	0.256789	0.28927	N	0.013683	T	0.45054	0.1323	M	0.82323	2.585	0.09310	N	1	B;B	0.32467	0.372;0.119	B;B	0.27608	0.081;0.037	T	0.44159	-0.9346	9	0.62326	D	0.03	.	7.3197	0.26521	0.2086:0.0:0.7914:0.0	.	195;244	O60499-2;O60499	.;STX10_HUMAN	M	195;244	.	ENSP00000242770:I244M	I	-	3	3	STX10	13116242	1.000000	0.71417	0.001000	0.08648	0.019000	0.09904	3.327000	0.52045	0.232000	0.21100	0.462000	0.41574	ATC		0.627	STX10-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452918.1		NM_003765		7	10	0	0	0	0.001984	0	7	10		
C19orf57	79173	broad.mit.edu	37	19	14000223	14000223	+	Silent	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:14000223C>G	ENST00000586783.1	-	5	1445	c.1446G>C	c.(1444-1446)gtG>gtC	p.V482V	C19orf57_ENST00000454313.1_Silent_p.V482V|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Silent_p.V482V			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	482					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TGTGTTCCAGCACAACAGAGG	0.622																																						uc002mxl.1		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1444-1446)GTG>GTC		hypothetical protein LOC79173							69.0	73.0	72.0					19																	14000223		2203	4300	6503	SO:0001819	synonymous_variant	79173				multicellular organismal development		protein binding	g.chr19:14000223C>G	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.1446G>C	19.37:g.14000223C>G						C19orf57_uc002mxk.1_Silent_p.V364V|C19orf57_uc002mxm.1_Intron	p.V482V	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		6	1505	-			482					Q13411|Q8N825|Q96D63|Q9BU49	Silent	SNP	ENST00000586783.1	37	c.1446G>C																																																																																					0.622	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1		NM_024323		25	71	0	0	0	0.003954	0	25	71		
DPY19L3	147991	broad.mit.edu	37	19	32930033	32930033	+	Silent	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:32930033A>G	ENST00000342179.5	+	7	827	c.612A>G	c.(610-612)agA>agG	p.R204R	DPY19L3_ENST00000586987.1_Silent_p.R204R|DPY19L3_ENST00000392250.2_Silent_p.R204R	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	204						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					ATACCACAAGAGTTGAGTTTA	0.393																																						uc002ntg.2		NaN																	0				ovary(4)	4						c.(610-612)AGA>AGG		dpy-19-like 3							176.0	171.0	173.0					19																	32930033		2203	4300	6503	SO:0001819	synonymous_variant	147991					integral to membrane		g.chr19:32930033A>G		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.612A>G	19.37:g.32930033A>G						DPY19L3_uc002nth.1_Silent_p.R204R|DPY19L3_uc002nti.1_RNA	p.R204R	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN			7	788	+	Esophageal squamous(110;0.162)		204					Q68DC7|Q6ZTB7|Q6ZTS2	Silent	SNP	ENST00000342179.5	37	c.612A>G	CCDS12422.1																																																																																				0.393	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1		NM_207325		55	91	0	0	0	0.01441	0	55	91		
CHST8	64377	broad.mit.edu	37	19	34180217	34180217	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:34180217T>A	ENST00000262622.4	+	2	808	c.50T>A	c.(49-51)aTc>aAc	p.I17N	CHST8_ENST00000438847.3_Missense_Mutation_p.I17N|CHST8_ENST00000434302.1_Missense_Mutation_p.I17N|CHST8_ENST00000604556.1_3'UTR	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	17					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TTCTCTTCCATCCTGCTGTTC	0.647																																						uc002nus.3		NaN																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(49-51)ATC>AAC		carbohydrate (N-acetylgalactosamine 4-0)							105.0	98.0	100.0					19																	34180217		2203	4300	6503	SO:0001583	missense	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34180217T>A	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.50T>A	19.37:g.34180217T>A	ENSP00000262622:p.Ile17Asn					CHST8_uc002nut.3_Missense_Mutation_p.I17N|CHST8_uc002nuu.2_Missense_Mutation_p.I17N	p.I17N	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN			3	555	+	Esophageal squamous(110;0.162)		17			Helical; Signal-anchor for type II membrane protein; (Potential).		Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.50T>A	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.333333	0.41297	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.80824	-1.42;-1.42;-1.42	5.39	5.39	0.77823	.	0.797910	0.10862	N	0.625927	T	0.76090	0.3939	L	0.27053	0.805	0.29841	N	0.82919	P	0.46395	0.877	P	0.44477	0.451	T	0.73665	-0.3911	10	0.87932	D	0	-0.9514	14.5844	0.68315	0.0:0.0:0.0:1.0	.	17	Q9H2A9	CHST8_HUMAN	N	17	ENSP00000392604:I17N;ENSP00000393879:I17N;ENSP00000262622:I17N	ENSP00000262622:I17N	I	+	2	0	CHST8	38872057	1.000000	0.71417	0.991000	0.47740	0.306000	0.27790	4.310000	0.59141	2.028000	0.59812	0.482000	0.46254	ATC		0.647	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1		NM_022467		27	134	0	0	0	0.003954	0	27	134		
ZNF529	57711	broad.mit.edu	37	19	37045699	37045699	+	Splice_Site	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:37045699C>A	ENST00000591340.1	-	4	267		c.e4-1		ZNF529_ENST00000334116.7_Splice_Site	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529						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)	1	Esophageal squamous(110;0.198)					TCACCAGTTCCTGAAACAACA	0.413																																						uc002oeh.3		NaN																	0				breast(1)	1						c.e4-1		zinc finger protein 529 isoform a							102.0	86.0	91.0					19																	37045699		692	1591	2283	SO:0001630	splice_region_variant	57711				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37045699C>A	AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"""Zinc fingers, C2H2-type"", ""-"""	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714	ENST00000591340.1:c.109-1G>T	19.37:g.37045699C>A						ZNF529_uc010xth.1_Splice_Site_p.E37_splice|ZNF529_uc010xti.1_Splice_Site_p.E19_splice|ZNF529_uc002oeg.3_Splice_Site	p.E37_splice	NM_020951	NP_066002	Q6P280	ZN529_HUMAN			4	311	-	Esophageal squamous(110;0.198)							K7EKE1|Q9H731|Q9HCF7	Splice_Site	SNP	ENST00000591340.1	37	c.109_splice	CCDS54256.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.734956	0.48939	.	.	ENSG00000186020	ENST00000334116	.	.	.	2.79	2.79	0.32731	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1933	0.37213	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF529	41737539	0.994000	0.37717	1.000000	0.80357	0.961000	0.63080	2.941000	0.49011	1.569000	0.49696	0.549000	0.68633	.		0.413	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452730.1		NM_020951	Intron	4	7	1	0	0.000602214	0.000602	0.000622288	4	7		
RYR1	6261	broad.mit.edu	37	19	38939069	38939070	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:38939069_38939070TC>AA	ENST00000359596.3	+	10	875_876	c.875_876TC>AA	c.(874-876)cTC>cAA	p.L292Q	RYR1_ENST00000355481.4_Missense_Mutation_p.L292Q|RYR1_ENST00000360985.3_Missense_Mutation_p.L292Q			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	292	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TACCTAGCGCTCACCGAGGACC	0.649																																						uc002oit.2		NaN																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(874-876)CTC>CAA		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)																																			SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38939069_38939070TC>AA	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		Exception_encountered	19.37:g.38939069_38939070delinsAA	ENSP00000352608:p.Leu292Gln					RYR1_uc002oiu.2_Missense_Mutation_p.L292Q	p.L292Q	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		10	1005_1006	+	all_cancers(60;7.91e-06)		292			MIR 4.|Cytoplasmic.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	DNP	ENST00000359596.3	37	c.875_876TC>AA	CCDS33011.1																																																																																				0.649	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1				20	271	0	0	0	0.004672	0	20	271		
PAK4	10298	broad.mit.edu	37	19	39660239	39660239	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:39660239A>C	ENST00000593690.1	+	4	473	c.46A>C	c.(46-48)Aac>Cac	p.N16H	PAK4_ENST00000358301.3_Missense_Mutation_p.N16H|PAK4_ENST00000360442.3_Missense_Mutation_p.N16H|PAK4_ENST00000599386.1_Missense_Mutation_p.N16H|PAK4_ENST00000599470.1_Missense_Mutation_p.N16H|PAK4_ENST00000435673.2_Missense_Mutation_p.N16H|PAK4_ENST00000321944.4_Missense_Mutation_p.N16H	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	16	CRIB. {ECO:0000255|PROSITE- ProRule:PRU00057}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CGCGCCGTCCAACTTCGAGCA	0.667																																						uc002okj.1		NaN																	0				lung(3)|ovary(1)	4						c.(46-48)AAC>CAC		p21-activated kinase 4 isoform 1							57.0	57.0	57.0					19																	39660239		2203	4300	6503	SO:0001583	missense	10298				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:39660239A>C	AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"""p21(CDKN1A)-activated kinase 4"""			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.46A>C	19.37:g.39660239A>C	ENSP00000469413:p.Asn16His					PAK4_uc002okl.1_Missense_Mutation_p.N16H|PAK4_uc002okn.1_Missense_Mutation_p.N16H|PAK4_uc002okm.1_Missense_Mutation_p.N16H|PAK4_uc002oko.1_Missense_Mutation_p.N16H|PAK4_uc002okp.1_Missense_Mutation_p.N16H	p.N16H	NM_001014831	NP_001014831	O96013	PAK4_HUMAN	Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)		4	507	+	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		16			CRIB.		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Missense_Mutation	SNP	ENST00000593690.1	37	c.46A>C	CCDS12528.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.304611	0.81136	.	.	ENSG00000130669	ENST00000358301;ENST00000321944;ENST00000435673;ENST00000360442	D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7	3.74	3.74	0.42951	PAK-box/P21-Rho-binding (3);	0.000000	0.85682	U	0.000000	D	0.95921	0.8672	M	0.93150	3.385	0.52501	D	0.999951	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.994;0.997	D	0.96150	0.9107	10	0.87932	D	0	.	10.7042	0.45946	1.0:0.0:0.0:0.0	.	16;16;16	O96013-4;O96013-3;O96013	.;.;PAK4_HUMAN	H	16	ENSP00000351049:N16H;ENSP00000326864:N16H;ENSP00000392753:N16H;ENSP00000353625:N16H	ENSP00000326864:N16H	N	+	1	0	PAK4	44352079	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	7.164000	0.77533	1.680000	0.50976	0.392000	0.25879	AAC		0.667	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1				52	91	0	0	0	0.01441	0	52	91		
SPTBN4	57731	broad.mit.edu	37	19	41035036	41035036	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:41035036G>A	ENST00000352632.3	+	18	4032	c.3946G>A	c.(3946-3948)Gag>Aag	p.E1316K	SPTBN4_ENST00000392025.1_Missense_Mutation_p.E59K|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E1316K|SPTBN4_ENST00000392023.1_5'Flank|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E1316K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E1316K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1316					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGACTGCCACGAGGTAGGAAC	0.597											OREG0025472	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ony.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3946-3948)GAG>AAG		spectrin, beta, non-erythrocytic 4 isoform							104.0	88.0	94.0					19																	41035036		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41035036G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.3946G>A	19.37:g.41035036G>A	ENSP00000263373:p.Glu1316Lys		OREG0025472	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	898	SPTBN4_uc002onx.2_Missense_Mutation_p.E1316K|SPTBN4_uc002onz.2_Missense_Mutation_p.E1316K|SPTBN4_uc010egx.2_Missense_Mutation_p.E59K|SPTBN4_uc010egy.1_5'Flank|SPTBN4_uc002ooa.2_5'Flank|SPTBN4_uc010egz.1_5'Flank	p.E1316K	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		18	4032	+			1316			Spectrin 11.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.3946G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	33	5.284819	0.95517	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025	T;T;T	0.55930	0.49;0.49;0.49	4.45	4.45	0.53987	.	0.000000	0.64402	U	0.000008	T	0.75488	0.3856	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.993;0.995;0.992	T	0.80264	-0.1455	10	0.56958	D	0.05	.	16.0112	0.80404	0.0:0.0:1.0:0.0	.	59;1316;1316	C9JY79;Q9H254;Q71S06	.;SPTN4_HUMAN;.	K	1316;1316;1316;59	ENSP00000263373:E1316K;ENSP00000340345:E1316K;ENSP00000375879:E59K	ENSP00000340345:E1316K	E	+	1	0	SPTBN4	45726876	1.000000	0.71417	0.971000	0.41717	0.805000	0.45488	7.344000	0.79328	2.297000	0.77311	0.650000	0.86243	GAG		0.597	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2				19	72	0	0	0	0.008871	0	19	72		
BCKDHA	593	broad.mit.edu	37	19	41932181	41932181	+	IGR	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:41932181C>G	ENST00000269980.2	+	0	2103				B3GNT8_ENST00000601379.1_5'UTR|CTC-435M10.6_ENST00000598887.1_RNA|B3GNT8_ENST00000321702.2_Missense_Mutation_p.R168T	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CCACGTCTCTCTCACGGCCTG	0.627																																						uc002oqs.2		NaN																	0					0						c.(502-504)AGA>ACA		UDP-GlcNAc:betaGal							64.0	67.0	66.0					19																	41932181		2203	4300	6503	SO:0001628	intergenic_variant	374907				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity	g.chr19:41932181C>G	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41932181C>G						CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron	p.R168T	NM_198540	NP_940942	Q7Z7M8	B3GN8_HUMAN			3	957	-			168			Lumenal (Potential).		B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	ENST00000269980.2	37	c.503G>C	CCDS12581.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409284	0.83340	.	.	ENSG00000177191	ENST00000321702	T	0.66280	-0.2	4.14	3.07	0.35406	.	0.000000	0.85682	D	0.000000	T	0.79233	0.4411	H	0.94503	3.545	0.58432	D	0.999993	P	0.52316	0.952	P	0.53593	0.73	D	0.85181	0.1004	10	0.87932	D	0	.	12.9572	0.58434	0.0:0.8353:0.1647:0.0	.	168	Q7Z7M8	B3GN8_HUMAN	T	168	ENSP00000312700:R168T	ENSP00000312700:R168T	R	-	2	0	B3GNT8	46624021	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.589000	0.67523	1.058000	0.40530	0.407000	0.27541	AGA		0.627	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3		NM_000709		51	96	0	0	0	0.01441	0	51	96		
MARK4	57787	broad.mit.edu	37	19	45767973	45767973	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:45767973G>A	ENST00000262891.4	+	5	718	c.387G>A	c.(385-387)aaG>aaA	p.K129K	MARK4_ENST00000300843.4_Silent_p.K129K	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	129	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGACTGAGAAGACGCTGTACC	0.577																																						uc002pbb.1		NaN																	0				central_nervous_system(2)|large_intestine(1)	3						c.(385-387)AAG>AAA		RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;							160.0	139.0	146.0					19																	45767973		2203	4300	6503	SO:0001819	synonymous_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45767973G>A	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.387G>A	19.37:g.45767973G>A						MARK4_uc002paz.1_Intron|MARK4_uc002pba.1_Silent_p.K129K|MARK4_uc002pbc.1_5'UTR	p.K129K			Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	5	392	+		all_neural(266;0.224)|Ovarian(192;0.231)	129			Protein kinase.		Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Silent	SNP	ENST00000262891.4	37	c.387G>A	CCDS56097.1																																																																																				0.577	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1		NM_031417		87	51	0	0	0	0.01441	0	87	51		
PPP1R13L	10848	broad.mit.edu	37	19	45895489	45895489	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:45895489G>A	ENST00000418234.2	-	8	1542	c.1464C>T	c.(1462-1464)ctC>ctT	p.L488L	PPP1R13L_ENST00000360957.5_Silent_p.L488L	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	488	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCGTGGGGCTGAGAGGCCTTG	0.672																																					Pancreas(61;1447 1663 31419 50578)	uc002pbn.2		NaN																	0				skin(1)	1						c.(1462-1464)CTC>CTT		protein phosphatase 1, regulatory subunit 13							21.0	22.0	22.0					19																	45895489		2202	4296	6498	SO:0001819	synonymous_variant	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45895489G>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.1464C>T	19.37:g.45895489G>A						PPP1R13L_uc002pbm.2_Silent_p.L67L|PPP1R13L_uc002pbo.2_Silent_p.L488L	p.L488L	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	8	1541	-		all_neural(266;0.224)|Ovarian(192;0.231)	488			Pro-rich.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Silent	SNP	ENST00000418234.2	37	c.1464C>T	CCDS33050.1																																																																																				0.672	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1		NM_006663		31	27	0	0	0	0.007291	0	31	27		
LMTK3	114783	broad.mit.edu	37	19	49013790	49013790	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:49013790A>G	ENST00000600059.1	-	2	363	c.136T>C	c.(136-138)Tgc>Cgc	p.C46R	LMTK3_ENST00000270238.3_Missense_Mutation_p.C75R|CTC-273B12.10_ENST00000598924.1_lincRNA			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	46					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		AGGCCGGAGCAGGAAATGAGG	0.622																																						uc002pjk.2		NaN																	0				lung(5)|central_nervous_system(1)	6						c.(223-225)TGC>CGC		lemur tyrosine kinase 3							46.0	63.0	57.0					19																	49013790		2078	4214	6292	SO:0001583	missense	114783							g.chr19:49013790A>G	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.136T>C	19.37:g.49013790A>G	ENSP00000472020:p.Cys46Arg						p.C75R	NM_001080434	NP_001073903				OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	3	223	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Missense_Mutation	SNP	ENST00000600059.1	37	c.223T>C		.	.	.	.	.	.	.	.	.	.	a	17.35	3.368016	0.61513	.	.	ENSG00000142235	ENST00000270238	T	0.77620	-1.11	3.95	3.95	0.45737	.	0.000000	0.85682	U	0.000000	T	0.80428	0.4621	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.80848	-0.1199	10	0.52906	T	0.07	.	11.1411	0.48402	1.0:0.0:0.0:0.0	.	46	Q96Q04	LMTK3_HUMAN	R	75	ENSP00000270238:C75R	ENSP00000270238:C75R	C	-	1	0	LMTK3	53705602	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.409000	0.90223	1.803000	0.52742	0.235000	0.17854	TGC		0.622	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1		NM_052895		6	3	0	0	0	0.001984	0	6	3		
ALDH16A1	126133	broad.mit.edu	37	19	49971709	49971709	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:49971709C>T	ENST00000293350.4	+	15	2173	c.2010C>T	c.(2008-2010)gaC>gaT	p.D670D	ALDH16A1_ENST00000433981.2_Silent_p.D505D|ALDH16A1_ENST00000540132.1_Silent_p.D507D|CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000455361.2_Silent_p.D619D	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	670						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		TGTGTCCGGACGAGTGGCCCC	0.701																																						uc002pnt.2		NaN																	0				skin(1)	1						c.(2008-2010)GAC>GAT		aldehyde dehydrogenase 16 family, member A1							137.0	145.0	142.0					19																	49971709		2203	4299	6502	SO:0001819	synonymous_variant	126133						oxidoreductase activity|protein binding	g.chr19:49971709C>T	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.2010C>T	19.37:g.49971709C>T						ALDH16A1_uc010yar.1_Silent_p.D619D|ALDH16A1_uc010yas.1_Silent_p.D505D|ALDH16A1_uc010yat.1_Silent_p.D507D	p.D670D	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	15	2126	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	670					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Silent	SNP	ENST00000293350.4	37	c.2010C>T	CCDS12766.1																																																																																				0.701	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1		NM_153329		114	79	0	0	0	0.01441	0	114	79		
CACNG8	59283	broad.mit.edu	37	19	54483176	54483176	+	Silent	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:54483176C>G	ENST00000270458.2	+	3	526	c.423C>G	c.(421-423)ctC>ctG	p.L141L	MIR935_ENST00000401179.1_RNA	NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	141					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		TGCTGCTGCTCGGGGGTGTGT	0.637																																						uc002qcs.1		NaN																	0					0						c.(418-420)CTC>CTG		voltage-dependent calcium channel gamma-8							32.0	33.0	33.0					19																	54483176		2203	4300	6503	SO:0001819	synonymous_variant	59283				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54483176C>G	AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"""Calcium channel subunits"""	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.423C>G	19.37:g.54483176C>G						MIR935_hsa-mir-935|MI0005757_5'Flank	p.L140L	NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN		GBM - Glioblastoma multiforme(134;0.162)	3	526	+	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)		141			Helical; (Potential).		Q9BXT0|Q9BY23	Silent	SNP	ENST00000270458.2	37	c.420C>G	CCDS33104.1																																																																																				0.637	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139361.3				17	7	0	0	0	0.007413	0	17	7		
BRSK1	84446	broad.mit.edu	37	19	55814746	55814746	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:55814746G>A	ENST00000309383.1	+	11	1373	c.1096G>A	c.(1096-1098)Gac>Aac	p.D366N	BRSK1_ENST00000326848.7_Missense_Mutation_p.D61N|BRSK1_ENST00000590333.1_Missense_Mutation_p.D382N	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	366					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CAGCTGTGAGGACCAGGACCT	0.567																																						uc002qkg.2		NaN																	0				ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6						c.(1096-1098)GAC>AAC		BR serine/threonine kinase 1							75.0	74.0	74.0					19																	55814746		2203	4300	6503	SO:0001583	missense	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55814746G>A	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1096G>A	19.37:g.55814746G>A	ENSP00000310649:p.Asp366Asn					BRSK1_uc002qkf.2_Missense_Mutation_p.D382N|BRSK1_uc002qkh.2_Missense_Mutation_p.D61N	p.D366N	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	11	1373	+		Renal(1328;0.245)	366					F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.1096G>A	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	28.4	4.917890	0.92249	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.72942	-0.7;0.77	3.96	3.96	0.45880	.	0.000000	0.85682	D	0.000000	D	0.84915	0.5578	M	0.85859	2.78	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87733	0.2580	10	0.66056	D	0.02	.	15.3134	0.74053	0.0:0.0:1.0:0.0	.	366;382	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	N	366;61;61	ENSP00000310649:D366N;ENSP00000320853:D61N	ENSP00000310649:D366N	D	+	1	0	BRSK1	60506558	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.121000	0.94375	2.221000	0.72209	0.561000	0.74099	GAC		0.567	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1		NM_032430		23	94	0	0	0	0.00278	0	23	94		
PEG3	5178	broad.mit.edu	37	19	57335915	57335915	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr19:57335915C>T	ENST00000326441.9	-	4	472	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E37K|PEG3_ENST00000594706.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593931.1_5'Flank	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	37					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTTGGACCTTCTCCTATGATG	0.473																																						uc002qnu.2		NaN																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(109-111)GAA>AAA		paternally expressed 3 isoform 1							79.0	81.0	80.0					19																	57335915		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57335915C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.109G>A	19.37:g.57335915C>T	ENSP00000326581:p.Glu37Lys					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E37K|PEG3_uc002qnv.2_Missense_Mutation_p.E37K|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Missense_Mutation_p.E37K	p.E37K	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	1	460	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	37					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.109G>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809092	0.90707	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02656	4.21;4.21	4.66	3.63	0.41609	Retrovirus capsid, C-terminal (1);	0.344301	0.21283	N	0.077111	T	0.02193	0.0068	N	0.24115	0.695	.	.	.	P	0.45044	0.849	B	0.40165	0.321	T	0.41448	-0.9508	8	.	.	.	-12.5779	7.7856	0.29091	0.0:0.8899:0.0:0.1101	.	37	Q9GZU2	PEG3_HUMAN	K	37	ENSP00000326581:E37K;ENSP00000403051:E37K	.	E	-	1	0	ZIM2	62027727	0.006000	0.16342	0.998000	0.56505	0.994000	0.84299	-0.028000	0.12350	2.542000	0.85734	0.655000	0.94253	GAA		0.473	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2				72	41	0	0	0	0.01441	0	72	41		
RHOB	388	broad.mit.edu	37	2	20647449	20647449	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:20647449C>A	ENST00000272233.4	+	1	615	c.223C>A	c.(223-225)Ccg>Acg	p.P75T		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	75					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|GTP catabolic process (GO:0006184)|negative regulation of cell cycle (GO:0045786)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|transformed cell apoptotic process (GO:0006927)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	Botulinum Toxin Type A(DB00083)	GCTCTCCTACCCGGACACCGA	0.647																																						uc002rdv.2		NaN																	0				ovary(1)|lung(1)	2						c.(223-225)CCG>ACG		ras homolog gene family, member B precursor							74.0	87.0	83.0					2																	20647449		2203	4300	6503	SO:0001583	missense	388				angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr2:20647449C>A		CCDS1699.1	2p24	2012-02-27	2012-02-27	2004-03-24	ENSG00000143878	ENSG00000143878			668	protein-coding gene	gene with protein product	"""oncogene RHO H6"""	165370	"""ras homolog gene family, member B"""	ARH6, ARHB		3283705, 16278215	Standard	NM_004040		Approved	RhoB, RHOH6, MST081	uc002rdv.3	P62745	OTTHUMG00000090755	ENST00000272233.4:c.223C>A	2.37:g.20647449C>A	ENSP00000272233:p.Pro75Thr						p.P75T	NM_004040	NP_004031	P62745	RHOB_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	1	615	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)	75					B2R692|P01121|Q5U0H6|Q7RTN5|Q7RTR9|Q9CUV7	Missense_Mutation	SNP	ENST00000272233.4	37	c.223C>A	CCDS1699.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747373	0.49257	.	.	ENSG00000143878	ENST00000272233	T	0.69561	-0.41	5.06	4.17	0.49024	Small GTP-binding protein domain (1);	0.067558	0.64402	U	0.000013	T	0.75803	0.3899	M	0.77103	2.36	0.80722	D	1	P	0.49862	0.929	P	0.51453	0.67	T	0.80516	-0.1348	10	0.87932	D	0	-16.965	15.1114	0.72359	0.1428:0.8572:0.0:0.0	.	75	P62745	RHOB_HUMAN	T	75	ENSP00000272233:P75T	ENSP00000272233:P75T	P	+	1	0	RHOB	20510930	1.000000	0.71417	0.994000	0.49952	0.011000	0.07611	7.668000	0.83897	1.252000	0.44001	0.563000	0.77884	CCG		0.647	RHOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207500.1		NM_004040		20	113	1	0	1.37522e-17	0.007413	1.5426e-17	20	113		
COMMD1	150684	broad.mit.edu	37	2	62227996	62227996	+	Missense_Mutation	SNP	G	G	T	rs367754580		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:62227996G>T	ENST00000311832.5	+	2	373	c.341G>T	c.(340-342)cGc>cTc	p.R114L	COMMD1_ENST00000472729.1_3'UTR|COMMD1_ENST00000538736.1_Missense_Mutation_p.R114L	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	copper metabolism (Murr1) domain containing 1	114					copper ion homeostasis (GO:0055070)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of protein ubiquitination (GO:0031398)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			AACCAGAGCCGCTGGAATAGC	0.502																																						uc002sbp.2		NaN																	0				ovary(1)	1						c.(340-342)CGC>CTC		MURR1							61.0	65.0	64.0					2																	62227996		2203	4300	6503	SO:0001583	missense	150684				copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity	g.chr2:62227996G>T	BC022046	CCDS1869.1	2p15	2004-03-02	2004-02-13	2004-02-18	ENSG00000173163	ENSG00000173163			23024	protein-coding gene	gene with protein product	"""copper metabolism gene MURR1"""	607238	"""chromosome 2 open reading frame 5 (MURR1)"""	C2orf5		9001233, 11809725	Standard	NM_152516		Approved	MURR1, MGC27155	uc002sbp.3	Q8N668	OTTHUMG00000129445	ENST00000311832.5:c.341G>T	2.37:g.62227996G>T	ENSP00000308236:p.Arg114Leu					COMMD1_uc002sbq.1_RNA	p.R114L	NM_152516	NP_689729	Q8N668	COMD1_HUMAN	LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)		2	352	+	Lung NSC(7;0.035)|all_lung(7;0.0691)		114					B4DFQ4|Q96GS0	Missense_Mutation	SNP	ENST00000311832.5	37	c.341G>T	CCDS1869.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065076	0.76187	.	.	ENSG00000173163	ENST00000311832;ENST00000538736	T;T	0.07908	3.15;3.15	5.88	5.88	0.94601	.	0.208184	0.49916	D	0.000122	T	0.15998	0.0385	L	0.54323	1.7	0.53005	D	0.999969	P	0.43607	0.812	P	0.49047	0.599	T	0.00191	-1.1936	10	0.39692	T	0.17	.	14.1151	0.65149	0.0723:0.0:0.9277:0.0	.	114	Q8N668	COMD1_HUMAN	L	114	ENSP00000308236:R114L;ENSP00000438961:R114L	ENSP00000308236:R114L	R	+	2	0	COMMD1	62081500	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	7.382000	0.79729	2.805000	0.96524	0.460000	0.39030	CGC		0.502	COMMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251607.2		NM_152516		36	36	1	0	5.8336e-16	0.003271	6.45863e-16	36	36		
DQX1	165545	broad.mit.edu	37	2	74754952	74754952	+	5'Flank	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:74754952T>C	ENST00000404568.3	-	0	0				HTRA2_ENST00000258080.3_5'Flank|DQX1_ENST00000393951.2_5'Flank|HTRA2_ENST00000352222.3_5'Flank|AUP1_ENST00000377526.3_Missense_Mutation_p.E251G	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CTGGCCCAATTCCTTGGCCAC	0.567																																						uc010yrx.1		NaN																	0					0						c.(922-924)GAA>GGA		SubName: Full=cDNA FLJ57204, highly similar to Homo sapiens ancient ubiquitous protein 1 (AUP1), transcript variant 2, mRNA;							132.0	146.0	141.0					2																	74754952		2051	4193	6244	SO:0001631	upstream_gene_variant	550					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding	g.chr2:74754952T>C	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965		2.37:g.74754952T>C	Exception_encountered					DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_5'UTR|AUP1_uc002smf.2_Missense_Mutation_p.E251G|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_Missense_Mutation_p.E160G|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank	p.E308G			Q9Y679	AUP1_HUMAN			7	1049	-			317			Cytoplasmic (Potential).		Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.923A>G	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	T	18.13	3.554513	0.65425	.	.	ENSG00000115307	ENST00000377526;ENST00000258081;ENST00000412627	D	0.93366	-3.21	5.42	5.42	0.78866	.	0.053779	0.64402	D	0.000001	D	0.93956	0.8065	L	0.56769	1.78	0.54753	D	0.999987	D;B;D	0.67145	0.996;0.011;0.986	P;B;P	0.58331	0.837;0.023;0.793	D	0.93587	0.6918	10	0.59425	D	0.04	-2.6856	8.0512	0.30579	0.0:0.0902:0.0:0.9098	.	308;317;251	E7EU18;Q9Y679;Q9Y679-2	.;AUP1_HUMAN;.	G	251;315;253	ENSP00000366748:E251G	ENSP00000258081:E315G	E	-	2	0	AUP1	74608460	1.000000	0.71417	0.988000	0.46212	0.967000	0.64934	5.619000	0.67729	2.064000	0.61679	0.459000	0.35465	GAA		0.567	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3		NM_133637		30	149	0	0	0	0.007291	0	30	149		
LOXL3	84695	broad.mit.edu	37	2	74776495	74776495	+	Splice_Site	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:74776495C>A	ENST00000264094.3	-	4	764		c.e4+1		LOXL3_ENST00000409249.1_Splice_Site|LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000484369.1_Splice_Site|LOXL3_ENST00000409549.1_Splice_Site|DOK1_ENST00000409429.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3						epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						cggccccTCACCTGTAGAAGG	0.672																																						uc002smp.1		NaN																	0					0						c.e4+1		lysyl oxidase-like 3 precursor							10.0	11.0	11.0					2																	74776495		2193	4292	6485	SO:0001630	splice_region_variant	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74776495C>A	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.692+1G>T	2.37:g.74776495C>A						LOXL3_uc002smo.1_Intron|LOXL3_uc010ffm.1_Splice_Site_p.R231_splice|LOXL3_uc002smq.1_Intron|LOXL3_uc010ffn.1_Intron|DOK1_uc002smr.2_Intron	p.R231_splice	NM_032603	NP_115992	P58215	LOXL3_HUMAN			4	764	-								D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Splice_Site	SNP	ENST00000264094.3	37	c.692_splice	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780164	0.90195	.	.	ENSG00000115318	ENST00000264094;ENST00000409249;ENST00000409549;ENST00000420535;ENST00000413469	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0841	0.81025	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LOXL3	74630003	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.630000	0.83225	2.646000	0.89796	0.563000	0.77884	.		0.672	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1		NM_032603	Intron	3	9	1	0	0.004672	0.004672	0.00472745	3	9		
HK2	3099	broad.mit.edu	37	2	75108948	75108948	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:75108948G>T	ENST00000290573.2	+	11	2281	c.1681G>T	c.(1681-1683)Gcc>Tcc	p.A561S	HK2_ENST00000409174.1_Missense_Mutation_p.A533S	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	561	Catalytic.|Hexokinase type-1 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CAAGATCTACGCCATCCCGCA	0.622																																						uc002snd.2		NaN																	0				ovary(1)|lung(1)	2						c.(1681-1683)GCC>TCC		hexokinase 2							79.0	63.0	68.0					2																	75108948		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75108948G>T		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.1681G>T	2.37:g.75108948G>T	ENSP00000290573:p.Ala561Ser						p.A561S	NM_000189	NP_000180	P52789	HXK2_HUMAN			11	3607	+			561			Catalytic.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.1681G>T	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	4.415	0.076808	0.08485	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.98178	-4.77;-4.77	5.25	-1.76	0.08006	Hexokinase, N-terminal (1);	0.365972	0.33792	N	0.004549	D	0.91653	0.7362	N	0.13043	0.29	0.20821	N	0.999847	B	0.06786	0.001	B	0.11329	0.006	D	0.83575	0.0114	10	0.07325	T	0.83	-13.3771	7.9498	0.30008	0.2368:0.0:0.5189:0.2443	.	561	P52789	HXK2_HUMAN	S	561;561;533	ENSP00000290573:A561S;ENSP00000387140:A533S	ENSP00000290573:A561S	A	+	1	0	HK2	74962456	0.688000	0.27680	0.997000	0.53966	0.664000	0.39144	-0.144000	0.10280	-0.059000	0.13154	-0.262000	0.10625	GCC		0.622	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2		NM_000189		11	11	1	0	0.000673444	0.008291	0.00069379	11	11		
DUSP2	1844	broad.mit.edu	37	2	96810513	96810513	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:96810513G>A	ENST00000288943.4	-	2	582	c.497C>T	c.(496-498)cCt>cTt	p.P166L	AC012307.2_ENST00000449242.1_lincRNA	NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	166					endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				GTCGTAGACAGGAGCCCTGGA	0.672																																						uc002svk.3		NaN																	0				breast(1)	1						c.(496-498)CCT>CTT		dual specificity phosphatase 2							13.0	17.0	16.0					2																	96810513		2188	4291	6479	SO:0001583	missense	1844				endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity	g.chr2:96810513G>A	L11329	CCDS2016.1	2q11	2011-06-09			ENSG00000158050	ENSG00000158050		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3068	protein-coding gene	gene with protein product		603068				7806236, 7590752, 12673251	Standard	NM_004418		Approved	PAC-1	uc002svk.4	Q05923	OTTHUMG00000130456	ENST00000288943.4:c.497C>T	2.37:g.96810513G>A	ENSP00000288943:p.Pro166Leu						p.P166L	NM_004418	NP_004409	Q05923	DUS2_HUMAN			2	583	-		Ovarian(717;0.0228)	166					Q53T45	Missense_Mutation	SNP	ENST00000288943.4	37	c.497C>T	CCDS2016.1	.	.	.	.	.	.	.	.	.	.	g	17.85	3.491213	0.64074	.	.	ENSG00000158050	ENST00000288943	T	0.59502	0.26	4.0	4.0	0.46444	.	0.068823	0.64402	D	0.000016	T	0.62600	0.2441	M	0.82716	2.605	0.32249	N	0.571752	P	0.43352	0.804	B	0.41412	0.356	T	0.77270	-0.2650	10	0.66056	D	0.02	.	14.0255	0.64584	0.0:0.0:1.0:0.0	.	166	Q05923	DUS2_HUMAN	L	166	ENSP00000288943:P166L	ENSP00000288943:P166L	P	-	2	0	DUSP2	96174240	0.997000	0.39634	0.014000	0.15608	0.062000	0.15995	4.717000	0.61923	2.231000	0.72958	0.450000	0.29827	CCT		0.672	DUSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252847.1		NM_004418		6	3	0	0	0	0.00308	0	6	3		
ZAP70	7535	broad.mit.edu	37	2	98341692	98341692	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:98341692G>A	ENST00000264972.5	+	4	755	c.540G>A	c.(538-540)ggG>ggA	p.G180G	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Silent_p.G54G	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	180	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TTTACTCTGGGGCGCAGACCG	0.647																																						uc002syd.1		NaN																	0				lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(538-540)GGG>GGA		zeta-chain associated protein kinase 70kDa							50.0	47.0	48.0					2																	98341692		2203	4300	6503	SO:0001819	synonymous_variant	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98341692G>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.540G>A	2.37:g.98341692G>A						ZAP70_uc010yvf.1_Silent_p.G180G|ZAP70_uc002sye.1_Silent_p.G70G	p.G180G	NM_001079	NP_001070	P43403	ZAP70_HUMAN			4	747	+			180			SH2 2.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	ENST00000264972.5	37	c.540G>A	CCDS33254.1																																																																																				0.647	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1				6	43	0	0	0	0.001168	0	6	43		
GCC2	9648	broad.mit.edu	37	2	109092306	109092306	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:109092306G>C	ENST00000309863.6	+	9	3774	c.3060G>C	c.(3058-3060)aaG>aaC	p.K1020N		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1020					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAAGCTATAAGGTAAAAAATA	0.318																																						uc002tec.2		NaN																	0				ovary(1)	1						c.(3058-3060)AAG>AAC		GRIP and coiled-coil domain-containing 2							29.0	33.0	32.0					2																	109092306		2200	4292	6492	SO:0001630	splice_region_variant	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109092306G>C	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3060+1G>C	2.37:g.109092306G>C						GCC2_uc002ted.2_Missense_Mutation_p.K919N	p.K1020N	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			9	3214	+			1020			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.3060G>C	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828005	0.90955	.	.	ENSG00000135968	ENST00000309863	T	0.38240	1.15	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.57873	0.2083	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	P	0.62649	0.905	T	0.49011	-0.8983	10	0.33141	T	0.24	.	20.179	0.98193	0.0:0.0:1.0:0.0	.	1020	Q8IWJ2	GCC2_HUMAN	N	1020	ENSP00000307939:K1020N	ENSP00000307939:K1020N	K	+	3	2	GCC2	108458738	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.245000	0.89825	2.847000	0.97988	0.655000	0.94253	AAG		0.318	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3		NM_014635	Missense_Mutation	32	33	0	0	0	0.009535	0	32	33		
TTN	7273	broad.mit.edu	37	2	179579734	179579734	+	Missense_Mutation	SNP	C	C	T	rs544958705		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:179579734C>T	ENST00000591111.1	-	88	25452	c.25228G>A	c.(25228-25230)Gtt>Att	p.V8410I	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V7483I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.V8727I|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12582	Ig-like 66.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGAACCAACGCAAGTGTCG	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		21242	0.0		0.0	False		,,,				2504	0.001					uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(22447-22449)GTT>ATT		titin isoform N2-A							210.0	205.0	207.0					2																	179579734		2042	4198	6240	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179579734C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25228G>A	2.37:g.179579734C>T	ENSP00000465570:p.Val8410Ile					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V4144I	p.V7483I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		87	22671	-			8410					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.22447G>A		.	.	.	.	.	.	.	.	.	.	C	6.529	0.465908	0.12402	.	.	ENSG00000155657	ENST00000342992	T	0.41065	1.01	5.91	0.841	0.18918	Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.22205	0.0535	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24657	-1.0154	9	0.87932	D	0	.	1.2802	0.02039	0.1486:0.282:0.1453:0.424	.	8410	Q8WZ42	TITIN_HUMAN	I	7483	ENSP00000343764:V7483I	ENSP00000343764:V7483I	V	-	1	0	TTN	179287979	0.004000	0.15560	0.004000	0.12327	0.031000	0.12232	-0.148000	0.10219	0.091000	0.17302	0.655000	0.94253	GTT		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		97	77	0	0	0	0.01441	0	97	77		
CDK15	65061	broad.mit.edu	37	2	202687611	202687611	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:202687611C>G	ENST00000374598.4	+	5	528	c.528C>G	c.(526-528)ttC>ttG	p.F176L	CDK15_ENST00000410091.3_Missense_Mutation_p.F125L|CDK15_ENST00000434439.1_Missense_Mutation_p.F176L|CDK15_ENST00000450471.2_Missense_Mutation_p.F176L|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000260967.2_Missense_Mutation_p.F125L			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	176	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	CACTGACATTCGTTTTTGAAT	0.343																																						uc002uyt.2		NaN																	0				breast(2)|ovary(1)|lung(1)|kidney(1)	5						c.(526-528)TTC>TTG		PFTAIRE protein kinase 2	Adenosine triphosphate(DB00171)						171.0	165.0	167.0					2																	202687611		2203	4300	6503	SO:0001583	missense	65061						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	g.chr2:202687611C>G	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.528C>G	2.37:g.202687611C>G	ENSP00000363726:p.Phe176Leu					CDK15_uc010ftm.2_Missense_Mutation_p.F41L|CDK15_uc002uys.2_Missense_Mutation_p.F125L|CDK15_uc010ftn.1_Missense_Mutation_p.F125L|CDK15_uc010fto.1_Missense_Mutation_p.F176L	p.F176L	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN			5	577	+			176			Protein kinase.		A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Missense_Mutation	SNP	ENST00000374598.4	37	c.528C>G		.	.	.	.	.	.	.	.	.	.	C	2.122	-0.401264	0.04865	.	.	ENSG00000138395	ENST00000410091;ENST00000260967;ENST00000450471;ENST00000434439;ENST00000374598	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.51	-8.13	0.01073	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.059614	0.64402	D	0.000002	T	0.04998	0.0134	N	0.00092	-2.175	0.48185	D	0.999608	B;P;B	0.34864	0.175;0.473;0.418	B;B;B	0.38755	0.148;0.281;0.185	T	0.18116	-1.0347	10	0.02654	T	1	-17.1937	16.436	0.83875	0.085:0.0924:0.0:0.8226	.	176;176;176	Q96Q40-2;Q96Q40;F8W6H8	.;CDK15_HUMAN;.	L	125;125;176;176;176	ENSP00000386901:F125L;ENSP00000260967:F125L;ENSP00000406472:F176L;ENSP00000412775:F176L;ENSP00000363726:F176L	ENSP00000260967:F125L	F	+	3	2	CDK15	202395856	0.054000	0.20591	0.296000	0.24974	0.960000	0.62799	-0.936000	0.03946	-1.706000	0.01404	-0.482000	0.04802	TTC		0.343	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2				39	70	0	0	0	0.00874	0	39	70		
ANKZF1	55139	broad.mit.edu	37	2	220098444	220098444	+	Missense_Mutation	SNP	G	G	C	rs370478327		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:220098444G>C	ENST00000323348.5	+	8	1001	c.827G>C	c.(826-828)cGt>cCt	p.R276P	ANKZF1_ENST00000410034.3_Missense_Mutation_p.R276P|ANKZF1_ENST00000409849.1_Missense_Mutation_p.R66P	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	276						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGGATGTTCGTGACCTGCTG	0.522																																						uc002vkg.2		NaN																	0				ovary(2)	2						c.(826-828)CGT>CCT		ankyrin repeat and zinc finger domain containing							103.0	107.0	105.0					2																	220098444		1986	4149	6135	SO:0001583	missense	55139					intracellular	zinc ion binding	g.chr2:220098444G>C	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.827G>C	2.37:g.220098444G>C	ENSP00000321617:p.Arg276Pro					ANKZF1_uc010zkv.1_Missense_Mutation_p.R220P|ANKZF1_uc010zkw.1_Missense_Mutation_p.R66P|ANKZF1_uc002vkh.2_Missense_Mutation_p.R66P|ANKZF1_uc002vki.2_Missense_Mutation_p.R276P|ANKZF1_uc002vkj.1_Missense_Mutation_p.R264P	p.R276P	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1001	+		Renal(207;0.0474)	276					Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	c.827G>C	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437345	0.62955	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	T;T;T	0.31769	1.48;1.71;1.48	5.13	5.13	0.70059	.	0.335300	0.36972	N	0.002320	T	0.57403	0.2051	M	0.88031	2.925	0.42019	D	0.990978	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.69479	0.964;0.942;0.921	T	0.64101	-0.6486	10	0.72032	D	0.01	-10.6431	9.6839	0.40087	0.1232:0.0:0.8768:0.0	.	220;66;276	B4DZT1;B4E0V1;Q9H8Y5	.;.;ANKZ1_HUMAN	P	276;66;276	ENSP00000321617:R276P;ENSP00000386815:R66P;ENSP00000386337:R276P	ENSP00000321617:R276P	R	+	2	0	ANKZF1	219806688	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.741000	0.68638	2.655000	0.90218	0.655000	0.94253	CGT		0.522	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1		NM_018089		44	58	0	0	0	0.01441	0	44	58		
GMPPA	29926	broad.mit.edu	37	2	220367155	220367155	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:220367155A>C	ENST00000358215.3	+	6	850	c.481A>C	c.(481-483)Aca>Cca	p.T161P	GMPPA_ENST00000341142.3_Missense_Mutation_p.T161P|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373917.3_Missense_Mutation_p.T161P|GMPPA_ENST00000373908.1_Missense_Mutation_p.T161P|GMPPA_ENST00000313597.5_Missense_Mutation_p.T161P	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	161					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		GAATCCACAGACACACGAGGT	0.582																																						uc002vlr.2		NaN																	0					0						c.(481-483)ACA>CCA		GDP-mannose pyrophosphorylase A							75.0	62.0	66.0					2																	220367155		2203	4300	6503	SO:0001583	missense	29926				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr2:220367155A>C	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.481A>C	2.37:g.220367155A>C	ENSP00000350949:p.Thr161Pro					GMPPA_uc002vls.2_Missense_Mutation_p.T161P|GMPPA_uc002vlt.2_Missense_Mutation_p.T161P|GMPPA_uc002vlu.2_Missense_Mutation_p.T161P|GMPPA_uc002vlv.2_Missense_Mutation_p.T161P|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Missense_Mutation_p.T161P	p.T161P	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)	6	549	+		Renal(207;0.0183)	161					A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	37	c.481A>C	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.347549	0.82022	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000455657;ENST00000435316;ENST00000341142;ENST00000373924	T;T;T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;1.59;-0.78;-0.78	4.46	4.46	0.54185	Nucleotidyl transferase (1);	0.119802	0.56097	D	0.000039	D	0.83166	0.5195	M	0.64404	1.975	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.74348	0.983;0.972	D	0.85055	0.0931	10	0.72032	D	0.01	-14.642	13.42	0.60992	1.0:0.0:0.0:0.0	.	161;161	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	P	161;161;161;161;161;126;161;91	ENSP00000315925:T161P;ENSP00000363027:T161P;ENSP00000350949:T161P;ENSP00000363016:T161P;ENSP00000392465:T161P;ENSP00000411060:T126P;ENSP00000340760:T161P	ENSP00000315925:T161P	T	+	1	0	GMPPA	220075399	1.000000	0.71417	0.997000	0.53966	0.783000	0.44284	5.451000	0.66632	1.665000	0.50811	0.459000	0.35465	ACA		0.582	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1		NM_013335		11	12	0	0	0	0.010729	0	11	12		
DIS3L2	129563	broad.mit.edu	37	2	233075041	233075041	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:233075041A>G	ENST00000409307.1	+	9	1130	c.1130A>G	c.(1129-1131)gAc>gGc	p.D377G	DIS3L2_ENST00000325385.7_Missense_Mutation_p.D377G|DIS3L2_ENST00000273009.6_Missense_Mutation_p.D377G					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CCTAGAAAAGACTGTATCTTC	0.428																																						uc010fxz.2		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1129-1131)GAC>GGC		DIS3 mitotic control homolog (S.							142.0	139.0	140.0					2																	233075041		1964	4151	6115	SO:0001583	missense	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233075041A>G	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1130A>G	2.37:g.233075041A>G	ENSP00000386799:p.Asp377Gly					DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA	p.D377G	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	10	1406	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	377						Missense_Mutation	SNP	ENST00000409307.1	37	c.1130A>G	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.151694	0.57151	.	.	ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000431466;ENST00000409307;ENST00000424049	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.47	5.47	0.80525	Ribonuclease II/R (2);	0.117336	0.64402	D	0.000019	T	0.42787	0.1218	L	0.50333	1.59	0.80722	D	1	B	0.29253	0.239	B	0.41135	0.348	T	0.43228	-0.9404	10	0.66056	D	0.02	-18.9949	13.074	0.59077	1.0:0.0:0.0:0.0	.	377	Q8IYB7	DI3L2_HUMAN	G	377;377;377;377;377;12	ENSP00000273009:D377G;ENSP00000315569:D377G;ENSP00000386799:D377G;ENSP00000415419:D12G	ENSP00000273009:D377G	D	+	2	0	DIS3L2	232783285	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.753000	0.62183	2.069000	0.61940	0.374000	0.22700	GAC		0.428	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1		NM_152383		41	39	0	0	0	0.00874	0	41	39		
CHRNG	1146	broad.mit.edu	37	2	233409180	233409180	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:233409180G>T	ENST00000389494.3	+	10	1160	c.1139G>T	c.(1138-1140)gGa>gTa	p.G380V	CHRNG_ENST00000389492.3_Missense_Mutation_p.G328V	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	380					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	GGCTCCTCGGGATGGTCGATC	0.667																																						uc002vsx.1		NaN																	0					0						c.(1138-1140)GGA>GTA		cholinergic receptor, nicotinic, gamma							72.0	73.0	73.0					2																	233409180		2203	4300	6503	SO:0001583	missense	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233409180G>T	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.1139G>T	2.37:g.233409180G>T	ENSP00000374145:p.Gly380Val					CHRNG_uc010fye.1_Missense_Mutation_p.G328V	p.G380V	NM_005199	NP_005190	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	10	1160	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	380			Cytoplasmic (Potential).		B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP	ENST00000389494.3	37	c.1139G>T	CCDS33400.1	.	.	.	.	.	.	.	.	.	.	G	6.000	0.368493	0.11352	.	.	ENSG00000196811	ENST00000389494;ENST00000541596;ENST00000389492	D;D	0.84298	-1.83;-1.83	5.21	2.35	0.29111	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.419747	0.26058	N	0.026582	T	0.78123	0.4234	M	0.62088	1.915	0.20563	N	0.999885	B;B	0.13594	0.008;0.0	B;B	0.14578	0.011;0.002	T	0.58875	-0.7559	10	0.14252	T	0.57	.	6.2813	0.21009	0.0736:0.1339:0.6536:0.1389	.	328;380	Q14DU4;P07510	.;ACHG_HUMAN	V	380;380;328	ENSP00000374145:G380V;ENSP00000374143:G328V	ENSP00000374143:G328V	G	+	2	0	CHRNG	233117424	0.972000	0.33761	0.003000	0.11579	0.766000	0.43426	1.534000	0.36051	0.550000	0.28991	0.462000	0.41574	GGA		0.667	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1		NM_005199		50	64	1	0	2.17126e-26	0.01441	2.48456e-26	50	64		
USP40	55230	broad.mit.edu	37	2	234465604	234465604	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:234465604G>C	ENST00000427112.2	-	4	478	c.443C>G	c.(442-444)tCt>tGt	p.S148C	USP40_ENST00000251722.6_Missense_Mutation_p.S148C|USP40_ENST00000450966.1_Missense_Mutation_p.S160C			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	148	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CCCAACTAAAGAAGTTTCCAA	0.428																																						uc010zmu.1		NaN																	0				ovary(1)|lung(1)|breast(1)	3						c.(442-444)TCT>TGT		SubName: Full=cDNA FLJ56772, highly similar to Ubiquitin carboxyl-terminal hydrolase 40 (EC 3.1.2.15);							99.0	95.0	96.0					2																	234465604		1856	4114	5970	SO:0001583	missense	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234465604G>C	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.443C>G	2.37:g.234465604G>C	ENSP00000387898:p.Ser148Cys					USP40_uc010zmr.1_Missense_Mutation_p.S160C	p.S148C			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	5	561	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	148					Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	c.443C>G	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967823	0.92855	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112;ENST00000435959	T;T;T	0.32515	1.45;1.45;1.45	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.56717	0.2004	M	0.66560	2.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59595	-0.7425	10	0.87932	D	0	.	19.0298	0.92952	0.0:0.0:1.0:0.0	.	160	Q9NVE5-3	.	C	160;148;148;148	ENSP00000415434:S160C;ENSP00000251722:S148C;ENSP00000387898:S148C	ENSP00000251722:S148C	S	-	2	0	USP40	234130343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.790000	0.99075	2.498000	0.84270	0.655000	0.94253	TCT		0.428	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1		XM_114294		41	34	0	0	0	0.006999	0	41	34		
KIF1A	547	broad.mit.edu	37	2	241661251	241661251	+	Silent	SNP	G	G	A	rs375640417		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:241661251G>A	ENST00000320389.7	-	42	4571	c.4413C>T	c.(4411-4413)caC>caT	p.H1471H	KIF1A_ENST00000498729.2_Silent_p.H1572H	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1471					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TGACGCAGACGTGGCTGTGTG	0.652													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19803	0.0		0.0	False		,,,				2504	0.0					uc002vzy.2		NaN																	0				lung(1)	1						c.(4411-4413)CAC>CAT		axonal transport of synaptic vesicles		G		0,4294		0,0,2147	70.0	78.0	75.0		4413	2.2	1.0	2		75	1,8511		0,1,4255	no	coding-synonymous	KIF1A	NM_004321.5		0,1,6402	AA,AG,GG		0.0117,0.0,0.0078		1471/1691	241661251	1,12805	2147	4256	6403	SO:0001819	synonymous_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241661251G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.4413C>T	2.37:g.241661251G>A						KIF1A_uc010fzk.2_Silent_p.H1572H|KIF1A_uc002vzw.2_Silent_p.H132H|KIF1A_uc002vzx.2_Silent_p.H198H	p.H1471H	NM_004321	NP_004312	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	42	4559	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1471					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	c.4413C>T	CCDS46561.1																																																																																				0.652	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3		NM_138483		6	10	0	0	0	0.001984	0	6	10		
ADRA1D	146	broad.mit.edu	37	20	4228599	4228599	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr20:4228599G>A	ENST00000379453.4	-	1	1122	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	336					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TTGAGCAGGCGCACGGAGAGC	0.667																																						uc002wkr.2		NaN																	0					0						c.(1006-1008)CGC>TGC		alpha-1D-adrenergic receptor	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)						48.0	36.0	40.0					20																	4228599		2201	4296	6497	SO:0001583	missense	146				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr20:4228599G>A	U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"""GPCR / Class A : Adrenoceptors : alpha"""	280	protein-coding gene	gene with protein product		104219	"""adrenergic, alpha-1D-, receptor"""			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.1006C>T	20.37:g.4228599G>A	ENSP00000368766:p.Arg336Cys						p.R336C	NM_000678	NP_000669	P25100	ADA1D_HUMAN			1	1061	-			336			Cytoplasmic (By similarity).		Q9NPY0	Missense_Mutation	SNP	ENST00000379453.4	37	c.1006C>T	CCDS13079.1	.	.	.	.	.	.	.	.	.	.	g	16.53	3.148974	0.57151	.	.	ENSG00000171873	ENST00000379453	D	0.86694	-2.16	4.69	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.060901	0.64402	D	0.000009	D	0.92825	0.7718	M	0.84433	2.695	0.47698	D	0.999497	D	0.89917	1.0	D	0.85130	0.997	D	0.91991	0.5603	10	0.59425	D	0.04	.	10.5937	0.45325	0.0:0.0:0.4688:0.5312	.	336	P25100	ADA1D_HUMAN	C	336	ENSP00000368766:R336C	ENSP00000368766:R336C	R	-	1	0	ADRA1D	4176599	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	2.080000	0.41586	0.567000	0.29293	-0.216000	0.12614	CGC		0.667	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077812.2		NM_000678		5	14	0	0	0	0.000602	0	5	14		
SLC23A2	9962	broad.mit.edu	37	20	4854733	4854733	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr20:4854733G>A	ENST00000379333.1	-	11	1343	c.951C>T	c.(949-951)atC>atT	p.I317I	SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Silent_p.I203I|SLC23A2_ENST00000338244.1_Silent_p.I317I	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	317					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGATGGCCAGGATGATCTGGA	0.552																																						uc002wlg.1		NaN																	0				ovary(2)	2						c.(949-951)ATC>ATT		solute carrier family 23 (nucleobase							117.0	94.0	102.0					20																	4854733		2203	4300	6503	SO:0001819	synonymous_variant	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4854733G>A	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.951C>T	20.37:g.4854733G>A						SLC23A2_uc010zqr.1_Silent_p.I202I|SLC23A2_uc002wlh.1_Silent_p.I317I|SLC23A2_uc002wli.2_Silent_p.I316I	p.I317I	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN			11	1326	-			317			Helical; (Potential).		B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Silent	SNP	ENST00000379333.1	37	c.951C>T	CCDS13085.1	.	.	.	.	.	.	.	.	.	.	G	0.895	-0.724054	0.03158	.	.	ENSG00000089057	ENST00000423430	.	.	.	5.4	3.42	0.39159	.	.	.	.	.	T	0.47469	0.1447	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40194	-0.9576	4	.	.	.	-16.761	4.1201	0.10101	0.2162:0.1993:0.5846:0.0	.	.	.	.	S	74	.	.	P	-	1	0	SLC23A2	4802733	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	1.792000	0.38754	1.264000	0.44198	-0.176000	0.13171	CCT		0.552	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1				29	102	0	0	0	0.007291	0	29	102		
SLX4IP	128710	broad.mit.edu	37	20	10541378	10541378	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr20:10541378G>C	ENST00000334534.5	+	4	328	c.148G>C	c.(148-150)Gat>Cat	p.D50H		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	50																	AGAAACCATTGATTCAAGAGT	0.323																																						uc010zre.1		NaN																	0					0						c.(148-150)GAT>CAT		hypothetical protein LOC128710							71.0	64.0	67.0					20																	10541378		2203	4300	6503	SO:0001583	missense	128710						protein binding	g.chr20:10541378G>C	AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"""chromosome 20 open reading frame 94"""	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.148G>C	20.37:g.10541378G>C	ENSP00000335557:p.Asp50His						p.D50H	NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN			4	328	+			50					Q05CG2|Q05CT9	Missense_Mutation	SNP	ENST00000334534.5	37	c.148G>C	CCDS33439.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196928	0.58126	.	.	ENSG00000149346	ENST00000334534	T	0.24350	1.86	5.91	1.83	0.25207	.	0.550410	0.17607	N	0.168225	T	0.31263	0.0791	L	0.56769	1.78	0.36495	D	0.868648	D	0.56287	0.975	P	0.50659	0.647	T	0.27400	-1.0075	10	0.59425	D	0.04	-0.4254	7.3981	0.26948	0.204:0.1213:0.6746:0.0	.	50	Q5VYV7	CT094_HUMAN	H	50	ENSP00000335557:D50H	ENSP00000335557:D50H	D	+	1	0	C20orf94	10489378	1.000000	0.71417	0.978000	0.43139	0.941000	0.58515	1.842000	0.39250	0.120000	0.18254	-0.140000	0.14226	GAT		0.323	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078000.3		NM_001009608		12	44	0	0	0	0.013537	0	12	44		
GGT7	2686	broad.mit.edu	37	20	33460480	33460480	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr20:33460480C>T	ENST00000336431.5	-	1	183	c.139G>A	c.(139-141)Gag>Aag	p.E47K	ACSS2_ENST00000336325.4_5'Flank	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	47					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						AAGGCGTCCTCGTCCTTGCGG	0.697																																						uc002xay.2		NaN																	0				ovary(1)	1						c.(139-141)GAG>AAG		gamma-glutamyltransferase 7							7.0	10.0	9.0					20																	33460480		2171	4260	6431	SO:0001583	missense	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33460480C>T	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.139G>A	20.37:g.33460480C>T	ENSP00000338964:p.Glu47Lys					GGT7_uc002xaz.1_Missense_Mutation_p.E47K|GGT7_uc002xba.1_Missense_Mutation_p.E47K|ACSS2_uc002xbc.2_5'Flank	p.E47K	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN			1	182	-			47			Cytoplasmic (Potential).		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	c.139G>A	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716406	0.89205	.	.	ENSG00000131067	ENST00000336431;ENST00000427420	T;T	0.37058	3.36;1.22	3.35	3.35	0.38373	.	0.227208	0.37955	N	0.001879	T	0.36744	0.0978	L	0.36672	1.1	0.80722	D	1	D;D;D	0.60160	0.987;0.978;0.978	P;P;B	0.48304	0.573;0.469;0.369	T	0.43065	-0.9414	10	0.66056	D	0.02	-5.2977	16.0092	0.80385	0.0:1.0:0.0:0.0	.	47;47;47	Q9UJ14-5;A4FU32;Q9UJ14	.;.;GGT7_HUMAN	K	47	ENSP00000338964:E47K;ENSP00000394993:E47K	ENSP00000338964:E47K	E	-	1	0	GGT7	32924141	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.011000	0.76359	2.202000	0.70862	0.313000	0.20887	GAG		0.697	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2		NM_178026		6	20	0	0	0	0.004482	0	6	20		
PREX1	57580	broad.mit.edu	37	20	47248883	47248883	+	Silent	SNP	C	C	G	rs199932089		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr20:47248883C>G	ENST00000371941.3	-	35	4480	c.4458G>C	c.(4456-4458)gcG>gcC	p.A1486A	PREX1_ENST00000396220.1_Missense_Mutation_p.R1521P	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1486					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCAAATCCTCCGCGGCCTGGC	0.647																																						uc002xtw.1		NaN																	0				lung(3)|ovary(2)|pancreas(1)	6						c.(4456-4458)GCG>GCC		phosphatidylinositol-3,4,							112.0	110.0	111.0					20																	47248883		2203	4300	6503	SO:0001819	synonymous_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47248883C>G	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4458G>C	20.37:g.47248883C>G						PREX1_uc002xtv.1_Silent_p.A783A	p.A1486A	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		35	4481	-			1486					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	c.4458G>C	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	1.141	-0.649389	0.03506	.	.	ENSG00000124126	ENST00000396220	T	0.62788	-0.0	4.39	-3.43	0.04810	.	.	.	.	.	T	0.38026	0.1025	.	.	.	0.20489	N	0.999899	.	.	.	.	.	.	T	0.30387	-0.9980	6	0.11794	T	0.64	.	8.287	0.31935	0.0:0.2278:0.1235:0.6487	.	.	.	.	P	1521	ENSP00000379522:R1521P	ENSP00000379522:R1521P	R	-	2	0	PREX1	46682290	0.002000	0.14202	0.003000	0.11579	0.113000	0.19764	-0.438000	0.06905	-1.160000	0.02804	-1.790000	0.00627	CGG		0.647	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1		NM_020820		49	131	0	0	0	0.01441	0	49	131		
SCAF4	57466	broad.mit.edu	37	21	33044500	33044500	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr21:33044500T>C	ENST00000286835.7	-	20	3038	c.2656A>G	c.(2656-2658)Atg>Gtg	p.M886V	SCAF4_ENST00000399804.1_Missense_Mutation_p.M864V|SCAF4_ENST00000434667.3_Missense_Mutation_p.M871V	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	886						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CCTCTGTGCATCATGTGCGGT	0.647																																						uc002ypd.2		NaN																	0					0						c.(2656-2658)ATG>GTG		splicing factor, arginine/serine-rich 15 isoform							67.0	65.0	65.0					21																	33044500		2203	4300	6503	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33044500T>C	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2656A>G	21.37:g.33044500T>C	ENSP00000286835:p.Met886Val					SFRS15_uc002ype.2_Missense_Mutation_p.M864V|SFRS15_uc010glu.2_Missense_Mutation_p.M871V	p.M886V	NM_020706	NP_065757	O95104	SFR15_HUMAN			20	3082	-			886					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.2656A>G	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	T	12.37	1.918675	0.33908	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.52057	0.91;0.9;0.68	5.13	5.13	0.70059	.	0.129653	0.53938	D	0.000045	T	0.36331	0.0963	N	0.19112	0.55	0.48135	D	0.999598	B;B;B	0.29432	0.158;0.244;0.158	B;B;B	0.32928	0.074;0.155;0.074	T	0.20538	-1.0272	10	0.36615	T	0.2	-15.2768	15.1075	0.72332	0.0:0.0:0.0:1.0	.	871;864;886	C9JLZ0;O95104-2;O95104	.;.;SFR15_HUMAN	V	871;886;864	ENSP00000402377:M871V;ENSP00000286835:M886V;ENSP00000382703:M864V	ENSP00000286835:M886V	M	-	1	0	SCAF4	31966371	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	2.594000	0.46189	2.158000	0.67659	0.454000	0.30748	ATG		0.647	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1		XM_047889		11	60	0	0	0	0.010729	0	11	60		
PCBP3	54039	broad.mit.edu	37	21	47330884	47330884	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr21:47330884C>T	ENST00000400314.1	+	9	878	c.540C>T	c.(538-540)atC>atT	p.I180I	PCBP3_ENST00000400304.1_Silent_p.I148I|PCBP3_ENST00000400310.1_Silent_p.I180I|PCBP3_ENST00000400308.1_Silent_p.I180I|PCBP3_ENST00000449640.1_Silent_p.I180I|PCBP3_ENST00000400309.1_Silent_p.I180I			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	180	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CGGTGACCATCTCGGGGACCC	0.642																																						uc002zhq.1		NaN																	0				skin(1)	1						c.(538-540)ATC>ATT		poly(rC) binding protein 3 isoform 1							79.0	88.0	85.0					21																	47330884		2178	4287	6465	SO:0001819	synonymous_variant	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47330884C>T	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.540C>T	21.37:g.47330884C>T						PCBP3_uc010gqb.2_Silent_p.I180I|PCBP3_uc002zhp.1_Silent_p.I180I|PCBP3_uc010gqc.1_Silent_p.I180I|PCBP3_uc002zhs.1_Silent_p.I180I|PCBP3_uc002zhr.1_Silent_p.I180I|PCBP3_uc002zht.1_Silent_p.I148I	p.I180I	NM_020528	NP_065389	P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	7	665	+	all_hematologic(128;0.24)		180			KH 2.		A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Silent	SNP	ENST00000400314.1	37	c.540C>T	CCDS42974.2																																																																																				0.642	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2				19	23	0	0	0	0.010504	0	19	23		
C21orf58	54058	broad.mit.edu	37	21	47722421	47722421	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr21:47722421T>G	ENST00000291691.7	-	7	1927	c.791A>C	c.(790-792)aAg>aCg	p.K264T	C21orf58_ENST00000472607.1_5'UTR|C21orf58_ENST00000397680.1_Missense_Mutation_p.K158T|C21orf58_ENST00000397679.1_Missense_Mutation_p.K158T|C21orf58_ENST00000397683.1_Missense_Mutation_p.K158T|C21orf58_ENST00000397682.3_Missense_Mutation_p.K158T	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	264										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		GGGCAGGGCCTTGAGCATCCA	0.582																																						uc002zjf.2		NaN																	0				pancreas(1)	1						c.(790-792)AAG>ACG		hypothetical protein LOC54058							34.0	30.0	31.0					21																	47722421		2202	4299	6501	SO:0001583	missense	54058							g.chr21:47722421T>G		CCDS13735.1, CCDS68229.1	21q22.3	2008-07-07			ENSG00000160298	ENSG00000160298			1300	protein-coding gene	gene with protein product							Standard	XM_005261149		Approved		uc002zjf.3	P58505	OTTHUMG00000090634	ENST00000291691.7:c.791A>C	21.37:g.47722421T>G	ENSP00000291691:p.Lys264Thr					C21orf58_uc002ziz.2_Missense_Mutation_p.K181T|C21orf58_uc002zja.2_Missense_Mutation_p.K158T|C21orf58_uc011afw.1_Missense_Mutation_p.K181T|C21orf58_uc002zjc.2_Missense_Mutation_p.K158T|C21orf58_uc011afx.1_Missense_Mutation_p.K158T|C21orf58_uc010gqj.1_RNA	p.K264T	NM_058180	NP_478060	P58505	CU058_HUMAN		Colorectal(79;0.239)	8	1925	-	Breast(49;0.112)		264					B3KPI1	Missense_Mutation	SNP	ENST00000291691.7	37	c.791A>C	CCDS13735.1	.	.	.	.	.	.	.	.	.	.	T	10.90	1.480586	0.26598	.	.	ENSG00000160298	ENST00000397683;ENST00000417060;ENST00000397682;ENST00000291691;ENST00000397679;ENST00000397680	T;T;T;T;T;T	0.54279	0.59;0.6;0.59;0.58;0.59;0.59	4.91	-2.25	0.06888	.	0.268689	0.33916	N	0.004422	T	0.59418	0.2192	L	0.60455	1.87	0.25170	N	0.990287	D;P;P	0.62365	0.991;0.939;0.844	P;P;P	0.61070	0.883;0.662;0.447	T	0.58929	-0.7549	10	0.66056	D	0.02	-5.4985	11.365	0.49666	0.0:0.5811:0.0:0.4189	.	264;158;264	P58505;Q8N7N9;P58505-2	CU058_HUMAN;.;.	T	158;226;158;264;158;158	ENSP00000380799:K158T;ENSP00000402356:K226T;ENSP00000380798:K158T;ENSP00000291691:K264T;ENSP00000380796:K158T;ENSP00000380797:K158T	ENSP00000291691:K264T	K	-	2	0	C21orf58	46546849	0.995000	0.38212	0.210000	0.23637	0.242000	0.25591	0.680000	0.25306	-0.590000	0.05866	0.379000	0.24179	AAG		0.582	C21orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207283.1		NM_058180		9	11	0	0	0	0.006214	0	9	11		
COMT	1312	broad.mit.edu	37	22	19951251	19951251	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr22:19951251G>C	ENST00000361682.6	+	4	834	c.452G>C	c.(451-453)cGg>cCg	p.R151P	COMT_ENST00000403710.1_Missense_Mutation_p.R151P|COMT_ENST00000406520.3_Missense_Mutation_p.R151P|MIR4761_ENST00000585066.1_RNA|COMT_ENST00000449653.1_Missense_Mutation_p.R101P|COMT_ENST00000403184.1_Missense_Mutation_p.R151P|COMT_ENST00000493893.1_3'UTR|COMT_ENST00000407537.1_Missense_Mutation_p.R101P	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	151					cellular response to phosphate starvation (GO:0016036)|dopamine catabolic process (GO:0042420)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|learning (GO:0007612)|methylation (GO:0032259)|multicellular organismal reproductive process (GO:0048609)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of smooth muscle cell proliferation (GO:0048662)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|positive regulation of homocysteine metabolic process (GO:0050668)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	catechol O-methyltransferase activity (GO:0016206)|magnesium ion binding (GO:0000287)|O-methyltransferase activity (GO:0008171)			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Methyldopa(DB00968)|Micafungin(DB01141)|S-Adenosylmethionine(DB00118)|Testosterone Propionate(DB01420)|Tolcapone(DB00323)	ATCACCCAGCGGATGGTGGAT	0.627																																						uc002zqu.2		NaN																	0				ovary(1)	1						c.(451-453)CGG>CCG		catechol-O-methyltransferase isoform MB-COMT	Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)						48.0	41.0	44.0					22																	19951251		2203	4300	6503	SO:0001583	missense	1312				neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding	g.chr22:19951251G>C		CCDS13770.1, CCDS46663.1	22q11.21	2012-10-02			ENSG00000093010	ENSG00000093010	2.1.1.6		2228	protein-coding gene	gene with protein product		116790				1572656	Standard	NM_000754		Approved		uc002zqu.3	P21964	OTTHUMG00000150529	ENST00000361682.6:c.452G>C	22.37:g.19951251G>C	ENSP00000354511:p.Arg151Pro					COMT_uc002zqt.2_Missense_Mutation_p.R151P|COMT_uc002zqv.2_Missense_Mutation_p.R151P|COMT_uc002zqw.2_Missense_Mutation_p.R151P|COMT_uc011ahd.1_Missense_Mutation_p.R151P|COMT_uc002zqx.2_Missense_Mutation_p.R151P	p.R151P	NM_000754	NP_000745	P21964	COMT_HUMAN			4	701	+	Colorectal(54;0.0993)		151					A8MPV9|Q6IB07|Q6ICE6|Q9BWC7	Missense_Mutation	SNP	ENST00000361682.6	37	c.452G>C	CCDS13770.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713623	0.48517	.	.	ENSG00000093010	ENST00000361682;ENST00000403184;ENST00000403710;ENST00000407537;ENST00000412786;ENST00000406520;ENST00000449653	T;T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	5.33	-0.963	0.10330	.	0.293833	0.38217	N	0.001772	T	0.50394	0.1613	L	0.31664	0.95	0.25583	N	0.986778	P;P	0.38597	0.492;0.639	B;B	0.37451	0.25;0.25	T	0.44251	-0.9340	9	.	.	.	-23.7451	6.245	0.20811	0.6058:0.1237:0.2705:0.0	.	151;151	P21964;E7EUU8	COMT_HUMAN;.	P	151;151;151;101;151;151;101	ENSP00000354511:R151P;ENSP00000383966:R151P;ENSP00000385917:R151P;ENSP00000384654:R101P;ENSP00000403958:R151P;ENSP00000385150:R151P;ENSP00000416778:R101P	.	R	+	2	0	COMT	18331251	1.000000	0.71417	0.971000	0.41717	0.038000	0.13279	3.474000	0.53129	-0.440000	0.07211	-0.150000	0.13652	CGG		0.627	COMT-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318936.2		NM_000754		22	19	0	0	0	0.00278	0	22	19		
THOC5	8563	broad.mit.edu	37	22	29925227	29925227	+	Splice_Site	SNP	A	A	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr22:29925227A>T	ENST00000490103.1	-	9	971	c.849T>A	c.(847-849)gaT>gaA	p.D283E	THOC5_ENST00000397871.1_Splice_Site_p.D283E|THOC5_ENST00000397872.1_Splice_Site_p.D283E|THOC5_ENST00000397873.2_Splice_Site_p.D283E|CTA-256D12.11_ENST00000411969.1_RNA	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	283					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATAACGTCTTATCTGGGGGGC	0.532																																						uc003afr.2		NaN																	0				breast(3)	3						c.(847-849)GAT>GAA		THO complex 5							122.0	111.0	114.0					22																	29925227		2203	4300	6503	SO:0001630	splice_region_variant	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29925227A>T	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.848-1T>A	22.37:g.29925227A>T						THOC5_uc003afq.2_5'Flank|THOC5_uc003afs.2_Missense_Mutation_p.D283E|THOC5_uc003aft.2_Missense_Mutation_p.D283E|THOC5_uc003afu.2_Missense_Mutation_p.D283E|THOC5_uc010gvo.2_Missense_Mutation_p.N27K|THOC5_uc003afv.1_Missense_Mutation_p.D294E	p.D283E	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN			10	1184	-			283					O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	c.849T>A	CCDS13859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.0|22.0	4.226720|4.226720	0.79576|0.79576	.|.	.|.	ENSG00000100296|ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873|ENST00000443089	T;T;T;T|.	0.28255|.	1.62;1.62;1.62;1.62|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.044248|.	0.85682|.	D|.	0.000000|.	T|.	0.59348|.	0.2187|.	L|L	0.53729|0.53729	1.69|1.69	0.54753|0.54753	D|D	0.999981|0.999981	D|.	0.89917|.	1.0|.	D|.	0.79784|.	0.993|.	T|.	0.58858|.	-0.7562|.	10|.	0.37606|.	T|.	0.19|.	.|.	8.043|8.043	0.30532|0.30532	0.8507:0.0:0.1493:0.0|0.8507:0.0:0.1493:0.0	.|.	283|.	Q13769|.	THOC5_HUMAN|.	E|K	283|154	ENSP00000420306:D283E;ENSP00000380970:D283E;ENSP00000380969:D283E;ENSP00000380971:D283E|.	ENSP00000380969:D283E|.	D|X	-|-	3|1	2|0	THOC5|THOC5	28255227|28255227	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	2.145000|2.145000	0.42207|0.42207	2.268000|2.268000	0.75426|0.75426	0.456000|0.456000	0.33151|0.33151	GAT|TAA		0.532	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1		NM_003678	Missense_Mutation	55	90	0	0	0	0.01441	0	55	90		
GALNT15	117248	broad.mit.edu	37	3	16217067	16217067	+	Missense_Mutation	SNP	G	G	A	rs372125358		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:16217067G>A	ENST00000339732.5	+	1	912	c.409G>A	c.(409-411)Gct>Act	p.A137T	GALNT15_ENST00000437509.1_Missense_Mutation_p.A137T|GALNT15_ENST00000470031.1_3'UTR	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	137					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GGACTGGGGGGCTGATGAGGA	0.637																																						uc003car.3		NaN																	0				breast(1)	1						c.(409-411)GCT>ACT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide		G	THR/ALA	0,4404		0,0,2202	32.0	28.0	29.0		409	0.4	0.4	3		29	1,8597		0,1,4298	no	missense	GALNTL2	NM_054110.4	58	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	137/640	16217067	1,13001	2202	4299	6501	SO:0001583	missense	117248					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr3:16217067G>A	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.409G>A	3.37:g.16217067G>A	ENSP00000344260:p.Ala137Thr					GALNTL2_uc003caq.3_Intron	p.A137T	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN			1	884	+			137			Lumenal (Potential).		A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	ENST00000339732.5	37	c.409G>A	CCDS33711.1	.	.	.	.	.	.	.	.	.	.	G	3.757	-0.050337	0.07407	0.0	1.16E-4	ENSG00000131386	ENST00000339732;ENST00000437509	T;T	0.57273	0.63;0.41	4.14	0.357	0.16079	.	.	.	.	.	T	0.22513	0.0543	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17899	-1.0354	9	0.21014	T	0.42	.	3.3672	0.07207	0.3237:0.2071:0.4692:0.0	.	137	Q8N3T1	GLTL2_HUMAN	T	137	ENSP00000344260:A137T;ENSP00000395873:A137T	ENSP00000344260:A137T	A	+	1	0	GALNTL2	16192071	0.189000	0.23263	0.394000	0.26270	0.184000	0.23303	0.329000	0.19698	0.170000	0.19704	-0.498000	0.04607	GCT		0.637	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2		NM_054110		14	55	0	0	0	0.00245	0	14	55		
WDR6	11180	broad.mit.edu	37	3	49051011	49051011	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:49051011T>A	ENST00000608424.1	+	2	2083	c.2044T>A	c.(2044-2046)Tac>Aac	p.Y682N	WDR6_ENST00000395474.3_Missense_Mutation_p.Y712N|WDR6_ENST00000448293.1_Missense_Mutation_p.Y631N|WDR6_ENST00000415265.2_Missense_Mutation_p.Y130N			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	682					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TGTCATGCTGTACAGGGCTCT	0.587											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003cvj.2		NaN																	0				central_nervous_system(1)	1						c.(2134-2136)TAC>AAC		WD repeat domain 6 protein							100.0	91.0	94.0					3																	49051011		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49051011T>A	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.2044T>A	3.37:g.49051011T>A	ENSP00000477389:p.Tyr682Asn		OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	959	WDR6_uc011bbx.1_3'UTR|WDR6_uc011bby.1_Missense_Mutation_p.Y160N|WDR6_uc010hkn.2_Missense_Mutation_p.Y656N|WDR6_uc011bbz.1_Missense_Mutation_p.Y631N	p.Y712N	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	2272	+			682			WD 11.		B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.2134T>A		.	.	.	.	.	.	.	.	.	.	t	11.11	1.541176	0.27563	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;T;T	0.72942	2.61;-0.7;-0.7	5.49	4.34	0.51931	WD40 repeat-like-containing domain (1);	0.122999	0.56097	D	0.000025	T	0.75406	0.3845	L	0.57536	1.79	0.30246	N	0.794503	B;D;D	0.60575	0.302;0.988;0.974	B;P;P	0.56916	0.074;0.809;0.571	T	0.74352	-0.3693	10	0.48119	T	0.1	-25.9513	10.7886	0.46419	0.0:0.0741:0.0:0.9259	.	130;682;631	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	N	712;130;631	ENSP00000378857:Y712N;ENSP00000412195:Y130N;ENSP00000413432:Y631N	ENSP00000378857:Y712N	Y	+	1	0	WDR6	49026015	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.639000	0.54339	2.085000	0.62840	0.454000	0.30748	TAC		0.587	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1				18	36	0	0	0	0.006122	0	18	36		
ZNF654	55279	broad.mit.edu	37	3	88189288	88189288	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:88189288C>G	ENST00000309495.5	+	1	1035	c.828C>G	c.(826-828)aaC>aaG	p.N276K	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	276					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(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TTAATTGCAACGAGTCGTTTA	0.373																																						uc003dqv.2		NaN																	0				ovary(1)	1						c.(826-828)AAC>AAG		zinc finger protein 654							101.0	93.0	96.0					3																	88189288		1867	4100	5967	SO:0001583	missense	55279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:88189288C>G	AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.828C>G	3.37:g.88189288C>G	ENSP00000312141:p.Asn276Lys					CGGBP1_uc003dqu.2_Intron	p.N276K	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	1	1027	+		Lung NSC(201;0.0283)	276			C2H2-type 4.		Q9H791|Q9NV14	Missense_Mutation	SNP	ENST00000309495.5	37	c.828C>G	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	C	7.043	0.562869	0.13498	.	.	ENSG00000175105	ENST00000309495	T	0.28255	1.62	5.87	-0.874	0.10631	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.573019	0.19101	N	0.122714	T	0.21468	0.0517	L	0.33189	0.99	0.24278	N	0.99522	B	0.32573	0.376	B	0.33846	0.171	T	0.13150	-1.0520	10	0.41790	T	0.15	.	11.1404	0.48400	0.0:0.255:0.0:0.745	.	276	Q8IZM8	ZN654_HUMAN	K	276	ENSP00000312141:N276K	ENSP00000312141:N276K	N	+	3	2	ZNF654	88271978	0.099000	0.21834	0.985000	0.45067	0.909000	0.53808	-0.511000	0.06321	-0.329000	0.08527	-2.070000	0.00385	AAC		0.373	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2		NM_018293		46	71	0	0	0	0.013114	0	46	71		
TRAT1	50852	broad.mit.edu	37	3	108572572	108572572	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:108572572G>T	ENST00000295756.6	+	6	639	c.409G>T	c.(409-411)Gat>Tat	p.D137Y	TRAT1_ENST00000426646.1_Missense_Mutation_p.D100Y	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	137			D -> G (in dbSNP:rs57744779).		cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						CAAGGATGGAGATGAGCAACT	0.453																																						uc003dxi.1		NaN																	0				skin(1)	1						c.(409-411)GAT>TAT		T-cell receptor interacting molecule							112.0	98.0	103.0					3																	108572572		2203	4300	6503	SO:0001583	missense	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108572572G>T	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.409G>T	3.37:g.108572572G>T	ENSP00000295756:p.Asp137Tyr					TRAT1_uc010hpx.1_Missense_Mutation_p.D100Y	p.D137Y	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN			6	553	+			137			Cytoplasmic (Potential).		Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	c.409G>T	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	G	9.386	1.074151	0.20227	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.38401	1.23;1.14	5.85	1.54	0.23209	.	0.713481	0.13836	N	0.359419	T	0.43166	0.1235	L	0.60455	1.87	0.09310	N	1	B;B	0.33477	0.413;0.413	B;P	0.45610	0.329;0.487	T	0.45716	-0.9242	10	0.87932	D	0	-15.6748	8.1656	0.31224	0.2363:0.1224:0.6413:0.0	.	100;137	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	Y	137;100	ENSP00000295756:D137Y;ENSP00000410097:D100Y	ENSP00000295756:D137Y	D	+	1	0	TRAT1	110055262	0.956000	0.32656	0.000000	0.03702	0.000000	0.00434	1.499000	0.35671	0.107000	0.17824	-1.872000	0.00552	GAT		0.453	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1		NM_016388		28	99	1	0	2.41591e-17	0.004656	2.69224e-17	28	99		
TAGLN3	29114	broad.mit.edu	37	3	111718304	111718304	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:111718304G>A	ENST00000393917.2	+	2	587	c.35G>A	c.(34-36)cGa>cAa	p.R12Q	TAGLN3_ENST00000455401.2_Missense_Mutation_p.R12Q|TAGLN3_ENST00000486460.1_5'Flank|TAGLN3_ENST00000478951.1_Missense_Mutation_p.R12Q|TAGLN3_ENST00000273368.4_Missense_Mutation_p.R12Q	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	12					central nervous system development (GO:0007417)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				endometrium(2)|lung(5)|urinary_tract(1)	8						GGCTTAAGCCGAGAGGTGCAG	0.587																																						uc003dym.2		NaN																	0					0						c.(34-36)CGA>CAA		transgelin 3							59.0	56.0	57.0					3																	111718304		2203	4300	6503	SO:0001583	missense	29114				central nervous system development|muscle organ development			g.chr3:111718304G>A	AF303058	CCDS33816.1	3q13.2	2008-02-05			ENSG00000144834	ENSG00000144834			29868	protein-coding gene	gene with protein product		607953				8015377, 11238712	Standard	NM_013259		Approved	NP25, NP22	uc003dyo.3	Q9UI15	OTTHUMG00000159281	ENST00000393917.2:c.35G>A	3.37:g.111718304G>A	ENSP00000377494:p.Arg12Gln					TAGLN3_uc003dyl.2_Missense_Mutation_p.R12Q|TAGLN3_uc003dyn.2_Missense_Mutation_p.R12Q|TAGLN3_uc003dyo.2_Missense_Mutation_p.R12Q	p.R12Q	NM_001008272	NP_001008273	Q9UI15	TAGL3_HUMAN			2	413	+			12					D3DN64|Q96A74	Missense_Mutation	SNP	ENST00000393917.2	37	c.35G>A	CCDS33816.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788207	0.90367	.	.	ENSG00000144834	ENST00000478951;ENST00000393917;ENST00000273368;ENST00000540095;ENST00000455401;ENST00000494932	T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.66934	0.2840	M	0.93016	3.37	0.80722	D	1	P	0.48294	0.908	B	0.38880	0.284	T	0.76329	-0.2999	10	0.41790	T	0.15	-0.1187	18.0088	0.89217	0.0:0.0:1.0:0.0	.	12	Q9UI15	TAGL3_HUMAN	Q	12	ENSP00000419105:R12Q;ENSP00000377494:R12Q;ENSP00000273368:R12Q;ENSP00000391160:R12Q;ENSP00000420675:R12Q	ENSP00000273368:R12Q	R	+	2	0	TAGLN3	113200994	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.476000	0.81055	2.640000	0.89533	0.655000	0.94253	CGA		0.587	TAGLN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354331.1		NM_013259		13	61	0	0	0	0.001855	0	13	61		
PARP14	54625	broad.mit.edu	37	3	122399790	122399790	+	Silent	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:122399790G>T	ENST00000474629.2	+	1	326	c.60G>T	c.(58-60)ccG>ccT	p.P20P		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	20					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CCGACCCCCCGAAGAACTTGA	0.682																																						uc003efq.3		NaN																	0				ovary(2)|breast(2)|lung(1)|pancreas(1)	6						c.(58-60)CCG>CCT		poly (ADP-ribose) polymerase family, member 14							19.0	23.0	22.0					3																	122399790		1856	4093	5949	SO:0001819	synonymous_variant	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122399790G>T	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.60G>T	3.37:g.122399790G>T							p.P20P	NM_017554	NP_060024	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	1	119	+			20					B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Silent	SNP	ENST00000474629.2	37	c.60G>T	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	7.020	0.558426	0.13436	.	.	ENSG00000173193	ENST00000494811	.	.	.	4.4	-4.55	0.03441	.	.	.	.	.	.	.	.	.	.	.	0.42033	D	0.991033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5909	0.17301	0.4548:0.275:0.2702:0.0	.	.	.	.	X	29	.	.	E	+	1	0	PARP14	123882480	0.327000	0.24678	0.497000	0.27552	0.615000	0.37417	-0.652000	0.05366	-0.786000	0.04516	-0.916000	0.02749	GAA		0.682	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2		NM_017554		6	15	1	0	1.06961e-07	0.00308	1.13626e-07	6	15		
ZXDC	79364	broad.mit.edu	37	3	126191141	126191141	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:126191141C>G	ENST00000389709.3	-	2	968	c.915G>C	c.(913-915)gaG>gaC	p.E305D	ZXDC_ENST00000336332.5_Missense_Mutation_p.E305D	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	305					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TAAATGTCTTCTCACAGCCTG	0.478																																						uc003eiv.2		NaN																	0				ovary(1)	1						c.(913-915)GAG>GAC		ZXD family zinc finger C isoform 1							76.0	80.0	79.0					3																	126191141		2198	4300	6498	SO:0001583	missense	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126191141C>G	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.915G>C	3.37:g.126191141C>G	ENSP00000374359:p.Glu305Asp					ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Missense_Mutation_p.E305D	p.E305D	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	2	969	-			305			C2H2-type 5.		C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	ENST00000389709.3	37	c.915G>C	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	C	3.856	-0.030941	0.07543	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.35973	1.28;1.28	4.39	4.39	0.52855	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.058402	0.64402	D	0.000003	T	0.18800	0.0451	N	0.01209	-0.955	0.48040	D	0.999578	B;B	0.33345	0.356;0.409	B;P	0.45119	0.339;0.47	T	0.24693	-1.0153	10	0.16896	T	0.51	-25.9201	10.8276	0.46643	0.0:0.8076:0.1924:0.0	.	305;305	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	D	305	ENSP00000374359:E305D;ENSP00000337694:E305D	ENSP00000337694:E305D	E	-	3	2	ZXDC	127673831	0.998000	0.40836	1.000000	0.80357	0.048000	0.14542	0.705000	0.25675	2.163000	0.67991	0.491000	0.48974	GAG		0.478	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2		NM_025112		36	75	0	0	0	0.005524	0	36	75		
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:126707544T>G	ENST00000393409.2	+	1	108	c.108T>G	c.(106-108)ggT>ggG	p.G36G	PLXNA1_ENST00000251772.4_Silent_p.G13G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682																																						uc003ejg.2		NaN																	4	Substitution - coding silent(4)		lung(2)|kidney(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(37-39)GGT>GGG		plexin A1							26.0	27.0	27.0					3																	126707544		2203	4300	6503	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126707544T>G	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.108T>G	3.37:g.126707544T>G							p.G13G	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	43	+			36			Sema.|Extracellular (Potential).			Silent	SNP	ENST00000393409.2	37	c.39T>G	CCDS33847.2																																																																																				0.682	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1		NM_032242		11	30	0	0	0	0.00499	0	11	30		
COL6A6	131873	broad.mit.edu	37	3	130282263	130282263	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:130282263C>T	ENST00000358511.6	+	2	447	c.416C>T	c.(415-417)gCt>gTt	p.A139V	COL6A6_ENST00000453409.2_Missense_Mutation_p.A139V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	139	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTGGTCCTGGCTTCATCTGAG	0.493																																						uc010htl.2		NaN																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(415-417)GCT>GTT		collagen type VI alpha 6 precursor							47.0	47.0	47.0					3																	130282263		1905	4121	6026	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130282263C>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.416C>T	3.37:g.130282263C>T	ENSP00000351310:p.Ala139Val						p.A139V	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			2	447	+			139			Nonhelical region.|VWFA 1.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.416C>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762337	0.69763	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.77358	-1.09;-1.09	5.21	5.21	0.72293	von Willebrand factor, type A (3);	0.107097	0.42053	D	0.000775	T	0.72526	0.3471	L	0.56769	1.78	0.32307	N	0.564231	B	0.34103	0.437	B	0.29862	0.108	T	0.79909	-0.1604	10	0.52906	T	0.07	.	13.1162	0.59301	0.0:0.9216:0.0:0.0784	.	139	A6NMZ7	CO6A6_HUMAN	V	139	ENSP00000351310:A139V;ENSP00000399236:A139V	ENSP00000351310:A139V	A	+	2	0	COL6A6	131764953	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	4.862000	0.62976	2.585000	0.87301	0.561000	0.74099	GCT		0.493	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5		NM_001102608		33	38	0	0	0	0.010818	0	33	38		
GNB4	59345	broad.mit.edu	37	3	179131259	179131259	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:179131259G>C	ENST00000232564.3	-	8	926	c.640C>G	c.(640-642)Cga>Gga	p.R214G	GNB4_ENST00000468623.1_Missense_Mutation_p.R214G|GNB4_ENST00000465153.1_5'UTR	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	214					cell death (GO:0008219)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)	p.R214R(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			ATTCCATCTCGAATATCCCAT	0.398																																					Melanoma(105;1405 1491 7265 20440 33721)	uc003fjv.3		NaN																	1	Substitution - coding silent(1)		prostate(1)	skin(2)	2						c.(640-642)CGA>GGA		guanine nucleotide-binding protein, beta-4							136.0	129.0	131.0					3																	179131259		2203	4300	6503	SO:0001583	missense	59345				cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity	g.chr3:179131259G>C	AF300648	CCDS3230.1	3q27.1	2013-01-10			ENSG00000114450	ENSG00000114450		"""WD repeat domain containing"""	20731	protein-coding gene	gene with protein product		610863				10644457, 11842130	Standard	NM_021629		Approved		uc003fjv.4	Q9HAV0	OTTHUMG00000157440	ENST00000232564.3:c.640C>G	3.37:g.179131259G>C	ENSP00000232564:p.Arg214Gly					GNB4_uc003fju.3_Missense_Mutation_p.R125G	p.R214G	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)		8	920	-	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		214			WD 4.		B3KMH5|D3DNR8	Missense_Mutation	SNP	ENST00000232564.3	37	c.640C>G	CCDS3230.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.545554|4.545554	0.86022|0.86022	.|.	.|.	ENSG00000114450|ENSG00000114450	ENST00000232564;ENST00000468623|ENST00000466899	T;T|.	0.01599|.	4.74;4.74|.	5.66|5.66	5.66|5.66	0.87406|0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76550|0.76550	0.4003|0.4003	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.996;1.0|.	P;D|.	0.75020|.	0.878;0.985|.	T|T	0.74589|0.74589	-0.3615|-0.3615	10|5	0.72032|.	D|.	0.01|.	-22.1519|-22.1519	19.7652|19.7652	0.96335|0.96335	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	214;214|.	Q9HAV0;A8K3F6|.	GBB4_HUMAN;.|.	G|W	214|136	ENSP00000232564:R214G;ENSP00000419693:R214G|.	ENSP00000232564:R214G|.	R|S	-|-	1|2	2|0	GNB4|GNB4	180613953|180613953	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.540000|7.540000	0.82074|0.82074	2.668000|2.668000	0.90789|0.90789	0.650000|0.650000	0.86243|0.86243	CGA|TCG		0.398	GNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258218.1		NM_021629		27	99	0	0	0	0.00632	0	27	99		
ST6GAL1	6480	broad.mit.edu	37	3	186793484	186793484	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:186793484C>T	ENST00000169298.3	+	8	1788	c.1114C>T	c.(1114-1116)Ctg>Ttg	p.L372L	ST6GAL1_ENST00000448044.1_Silent_p.L372L|ST6GAL1_ENST00000457772.2_Silent_p.L141L	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	372					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CTACCACCCGCTGCTCTATGA	0.512																																						uc003frb.2		NaN																	0				central_nervous_system(1)	1						c.(1114-1116)CTG>TTG		ST6 beta-galactosamide							99.0	90.0	93.0					3																	186793484		2203	4300	6503	SO:0001819	synonymous_variant	6480				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr3:186793484C>T	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.1114C>T	3.37:g.186793484C>T						ST6GAL1_uc003frc.2_Silent_p.L141L|ST6GAL1_uc003frd.2_Silent_p.L372L	p.L372L	NM_173216	NP_775323	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	8	1546	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		372			Lumenal (Potential).		A8KA14|B2R513|D3DNV3	Silent	SNP	ENST00000169298.3	37	c.1114C>T	CCDS3285.1																																																																																				0.512	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1		NM_173216		6	76	0	0	0	0.001168	0	6	76		
UCHL1	7345	broad.mit.edu	37	4	41259007	41259007	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr4:41259007C>G	ENST00000284440.4	+	1	158	c.14C>G	c.(13-15)cCg>cGg	p.P5R	UCHL1_ENST00000504818.1_3'UTR|UCHL1_ENST00000512788.1_Missense_Mutation_p.P5R|UCHL1-AS1_ENST00000507190.1_RNA|UCHL1-AS1_ENST00000510073.1_RNA|UCHL1_ENST00000508768.1_Missense_Mutation_p.P5R|UCHL1_ENST00000503431.1_Missense_Mutation_p.P5R	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	5	Interaction with ubiquitin.				adult walking behavior (GO:0007628)|axon target recognition (GO:0007412)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|cell proliferation (GO:0008283)|eating behavior (GO:0042755)|muscle fiber development (GO:0048747)|negative regulation of MAP kinase activity (GO:0043407)|neuromuscular process (GO:0050905)|protein deubiquitination (GO:0016579)|response to ischemia (GO:0002931)|sensory perception of pain (GO:0019233)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	alpha-2A adrenergic receptor binding (GO:0031694)|cysteine-type endopeptidase activity (GO:0004197)|ligase activity (GO:0016874)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						CAGCTCAAGCCGATGGAGATC	0.652																																						uc003gvo.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(13-15)CCG>CGG		ubiquitin carboxyl-terminal esterase L1							65.0	75.0	72.0					4																	41259007		2203	4300	6503	SO:0001583	missense	7345				cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity	g.chr4:41259007C>G	BC000332	CCDS3462.1	4p13	2011-07-21			ENSG00000154277	ENSG00000154277	3.4.19.12	"""Parkinson disease"""	12513	protein-coding gene	gene with protein product		191342		PARK5		1840236	Standard	NM_004181		Approved	PGP9.5, Uch-L1	uc003gvo.3	P09936	OTTHUMG00000099377	ENST00000284440.4:c.14C>G	4.37:g.41259007C>G	ENSP00000284440:p.Pro5Arg					UCHL1_uc003gvp.2_5'UTR|UCHL1_uc003gvq.2_5'UTR|UCHL1_uc003gvr.2_5'UTR	p.P5R	NM_004181	NP_004172	P09936	UCHL1_HUMAN			1	110	+			5			Interaction with ubiquitin.		Q4W5K6|Q71UM0	Missense_Mutation	SNP	ENST00000284440.4	37	c.14C>G	CCDS3462.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880728	0.91740	.	.	ENSG00000154277	ENST00000514924;ENST00000503431;ENST00000284440;ENST00000508768;ENST00000512788	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	4.88	4.88	0.63580	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (4);	0.113086	0.64402	N	0.000009	T	0.80292	0.4596	H	0.95043	3.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	D	0.86133	0.1576	10	0.72032	D	0.01	-12.1977	15.5742	0.76362	0.0:1.0:0.0:0.0	.	5	P09936	UCHL1_HUMAN	R	5	ENSP00000426634:P5R;ENSP00000422542:P5R;ENSP00000284440:P5R;ENSP00000426895:P5R;ENSP00000423623:P5R	ENSP00000284440:P5R	P	+	2	0	UCHL1	40953764	0.977000	0.34250	0.952000	0.39060	0.994000	0.84299	5.930000	0.70104	2.533000	0.85409	0.460000	0.39030	CCG		0.652	UCHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216827.1		NM_004181		22	45	0	0	0	0.00333	0	22	45		
TET2	54790	broad.mit.edu	37	4	106158065	106158065	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr4:106158065C>T	ENST00000540549.1	+	3	3826	c.2966C>T	c.(2965-2967)cCa>cTa	p.P989L	TET2_ENST00000413648.2_Missense_Mutation_p.P989L|TET2_ENST00000394764.1_Missense_Mutation_p.P989L|TET2_ENST00000545826.1_Missense_Mutation_p.P989L|TET2_ENST00000380013.4_Missense_Mutation_p.P989L|TET2_ENST00000305737.2_Missense_Mutation_p.P989L|TET2_ENST00000513237.1_Missense_Mutation_p.P1010L			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	989					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGATGCAAGCCACATGCCTGT	0.463			"""Mis N, F"""		MDS																																	uc003hxk.2		NaN		Rec	yes		4	4q24	54790	Mis N|F	tet oncogene family member 2			L			MDS		0				haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733						c.(2965-2967)CCA>CTA		tet oncogene family member 2 isoform a							120.0	99.0	106.0					4																	106158065		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106158065C>T	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2966C>T	4.37:g.106158065C>T	ENSP00000442788:p.Pro989Leu					TET2_uc011cez.1_Missense_Mutation_p.P1010L|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.P989L|TET2_uc003hxi.1_Missense_Mutation_p.P989L	p.P989L	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	3352	+		Myeloproliferative disorder(5;0.0393)	989					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.2966C>T	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	9.330	1.060392	0.19987	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.24350	1.86;1.86;3.85;1.86;1.86;1.86;1.86	5.79	4.94	0.65067	.	0.672987	0.12139	U	0.496079	T	0.19886	0.0478	N	0.20986	0.625	0.34371	D	0.691992	B;B;B	0.14805	0.001;0.001;0.011	B;B;B	0.14578	0.003;0.003;0.011	T	0.13656	-1.0501	10	0.42905	T	0.14	.	12.2287	0.54476	0.0:0.8619:0.0:0.1381	.	1010;989;989	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	L	989;989;989;1010;989;989;989	ENSP00000306705:P989L;ENSP00000442788:P989L;ENSP00000442867:P989L;ENSP00000425443:P1010L;ENSP00000369351:P989L;ENSP00000378245:P989L;ENSP00000391448:P989L	ENSP00000265149:P989L	P	+	2	0	TET2	106377514	0.660000	0.27420	0.641000	0.29422	0.704000	0.40688	1.391000	0.34475	1.421000	0.47157	0.655000	0.94253	CCA		0.463	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2		NM_017628		29	25	0	0	0	0.00632	0	29	25		
NPY2R	4887	broad.mit.edu	37	4	156136030	156136030	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr4:156136030C>T	ENST00000329476.3	+	2	1428	c.939C>T	c.(937-939)atC>atT	p.I313I	NPY2R_ENST00000506608.1_Silent_p.I313I	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	313					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)	p.I313I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	TCCACATCATCGCCATGTGCT	0.542																																						uc003ioq.2		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	lung(2)|skin(1)	3						c.(937-939)ATC>ATT		neuropeptide Y receptor Y2							124.0	98.0	107.0					4																	156136030		2203	4300	6503	SO:0001819	synonymous_variant	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156136030C>T	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.939C>T	4.37:g.156136030C>T						NPY2R_uc003ior.2_Silent_p.I313I	p.I313I	NM_000910	NP_000901	P49146	NPY2R_HUMAN			2	1434	+	all_hematologic(180;0.24)	Renal(120;0.0854)	313			Helical; Name=7; (Potential).		Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Silent	SNP	ENST00000329476.3	37	c.939C>T	CCDS3791.1																																																																																				0.542	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1		NM_000910		22	38	0	0	0	0.010504	0	22	38		
ETFDH	2110	broad.mit.edu	37	4	159593615	159593615	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr4:159593615G>T	ENST00000511912.1	+	1	339	c.7G>T	c.(7-9)Gtg>Ttg	p.V3L	ETFDH_ENST00000307738.5_Missense_Mutation_p.V3L|C4orf46_ENST00000508836.1_5'Flank|ETFDH_ENST00000510353.1_3'UTR|C4orf46_ENST00000508457.1_5'Flank|C4orf46_ENST00000379205.4_5'Flank	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	3					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		GAACATGCTGGTGCCGCTAGC	0.652											OREG0016379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003iqb.2		NaN																	0				large_intestine(2)|skin(1)	3						c.(7-9)GTG>TTG		electron-transferring-flavoprotein dehydrogenase							95.0	81.0	86.0					4																	159593615		2203	4300	6503	SO:0001583	missense	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159593615G>T	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.7G>T	4.37:g.159593615G>T	ENSP00000426638:p.Val3Leu		OREG0016379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1802	C4orf46_uc003iqa.2_5'Flank|C4orf46_uc010iqp.1_5'Flank|ETFDH_uc010iqq.2_RNA|ETFDH_uc011cjg.1_Missense_Mutation_p.V3L|ETFDH_uc010iqr.2_5'UTR	p.V3L	NM_004453	NP_004444	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	1	339	+	all_hematologic(180;0.24)	Renal(120;0.0458)	3					B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	37	c.7G>T	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085580	0.55861	.	.	ENSG00000171503	ENST00000512251;ENST00000511912;ENST00000307738	T;D;D	0.98234	-1.21;-4.22;-4.81	5.69	3.04	0.35103	.	0.836964	0.11355	N	0.572532	D	0.93331	0.7874	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	D	0.87037	0.2138	10	0.40728	T	0.16	0.0525	8.2776	0.31881	0.0841:0.3389:0.577:0.0	.	3;3	B4E3R9;Q16134	.;ETFD_HUMAN	L	3	ENSP00000425661:V3L;ENSP00000426638:V3L;ENSP00000303552:V3L	ENSP00000303552:V3L	V	+	1	0	ETFDH	159813065	0.629000	0.27146	0.028000	0.17463	0.030000	0.12068	1.316000	0.33620	0.426000	0.26116	0.655000	0.94253	GTG		0.652	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2				19	42	1	0	8.04996e-18	0.012319	9.05952e-18	19	42		
SDHA	6389	broad.mit.edu	37	5	240522	240522	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:240522G>A	ENST00000264932.6	+	11	1597	c.1482G>A	c.(1480-1482)atG>atA	p.M494I	SDHA_ENST00000504309.1_Missense_Mutation_p.M494I|SDHA_ENST00000510361.1_Missense_Mutation_p.M446I	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	494					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	AATCTGTCATGAATCTTGACA	0.398									Familial Paragangliomas																													uc003jao.3		NaN																	0					0						c.(1480-1482)ATG>ATA		succinate dehydrogenase complex, subunit A,	Succinic acid(DB00139)						31.0	35.0	34.0					5																	240522		2201	4297	6498	SO:0001583	missense	6389	Familial_Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:240522G>A	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1482G>A	5.37:g.240522G>A	ENSP00000264932:p.Met494Ile					SDHA_uc011clv.1_Missense_Mutation_p.M494I|SDHA_uc011clw.1_Missense_Mutation_p.M446I|SDHA_uc003jap.3_Missense_Mutation_p.M494I|SDHA_uc003jaq.3_Missense_Mutation_p.M269I|SDHA_uc003jar.3_Missense_Mutation_p.M88I	p.M494I	NM_004168	NP_004159	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		11	1597	+			494					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.1482G>A	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	N	14.22	2.471615	0.43942	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.71461	-0.57;0.27;-0.57	4.95	1.63	0.23807	Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal (1);	0.131006	0.49916	U	0.000127	T	0.45074	0.1324	N	0.08118	0	0.27001	N	0.964909	B;B;B;B;B	0.11235	0.004;0.0;0.001;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.0;0.0	T	0.38243	-0.9670	10	0.59425	D	0.04	.	5.8064	0.18442	0.4585:0.0:0.5415:0.0	.	446;494;88;494;494	E9PBJ5;B4DYN5;B3KYA5;D6RFM5;P31040	.;.;.;.;DHSA_HUMAN	I	494;349;494;446	ENSP00000264932:M494I;ENSP00000426514:M494I;ENSP00000427703:M446I	ENSP00000264932:M494I	M	+	3	0	SDHA	293522	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	0.780000	0.26760	0.602000	0.29896	0.650000	0.86243	ATG		0.398	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1		NM_004168		14	48	0	0	0	0.004007	0	14	48		
PAPD7	11044	broad.mit.edu	37	5	6750553	6750553	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:6750553C>T	ENST00000230859.6	+	10	1176	c.1047C>T	c.(1045-1047)agC>agT	p.S349S		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	579					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CGCTGTCCAGCCCCCAGCTCC	0.572																																					NSCLC(7;212 333 5667 23379 46547)	uc003jdx.1		NaN																	0				ovary(1)	1						c.(1045-1047)AGC>AGT		DNA polymerase sigma							87.0	77.0	80.0					5																	6750553		2203	4300	6503	SO:0001819	synonymous_variant	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6750553C>T	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1047C>T	5.37:g.6750553C>T						PAPD7_uc011cmn.1_Silent_p.S340S|PAPD7_uc010itl.1_Silent_p.S169S	p.S349S	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN			10	1176	+			349			Ser-rich.		A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Silent	SNP	ENST00000230859.6	37	c.1047C>T	CCDS3871.1																																																																																				0.572	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1		NM_006999		20	33	0	0	0	0.007413	0	20	33		
CCT5	22948	broad.mit.edu	37	5	10254792	10254792	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:10254792A>T	ENST00000280326.4	+	3	593	c.173A>T	c.(172-174)gAt>gTt	p.D58V	CCT5_ENST00000515390.1_Intron|CCT5_ENST00000515676.1_Missense_Mutation_p.D20V|CCT5_ENST00000506600.1_Intron|CCT5_ENST00000503026.1_Missense_Mutation_p.D37V	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	58					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TTAGGGCTTGATAAGATGATG	0.418																																						uc003jeq.2		NaN																	0				ovary(2)	2						c.(172-174)GAT>GTT		chaperonin containing TCP1, subunit 5 (epsilon)							138.0	124.0	129.0					5																	10254792		2203	4300	6503	SO:0001583	missense	22948				'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	g.chr5:10254792A>T	D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.173A>T	5.37:g.10254792A>T	ENSP00000280326:p.Asp58Val					CCT5_uc011cmq.1_Intron|CCT5_uc003jer.2_Missense_Mutation_p.D58V|CCT5_uc010its.2_Missense_Mutation_p.D58V|CCT5_uc011cmr.1_Intron|CCT5_uc011cms.1_Missense_Mutation_p.D20V|CCT5_uc011cmt.1_Intron	p.D58V	NM_012073	NP_036205	P48643	TCPE_HUMAN			3	344	+			58					A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	ENST00000280326.4	37	c.173A>T	CCDS3877.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.561988	0.86335	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000440011;ENST00000515676	T;T;T	0.80123	-1.34;-1.34;-1.34	5.64	5.64	0.86602	Chaperonin TCP-1, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94355	0.8185	H	0.99535	4.615	0.80722	D	1	D;D;D	0.65815	0.995;0.995;0.995	D;D;D	0.74023	0.982;0.982;0.982	D	0.96700	0.9517	10	0.87932	D	0	-32.6271	15.097	0.72242	1.0:0.0:0.0:0.0	.	56;58;58	Q9BU08;A8K2X8;P48643	.;.;TCPE_HUMAN	V	58;37;58;20	ENSP00000280326:D58V;ENSP00000423318:D37V;ENSP00000427297:D20V	ENSP00000280326:D58V	D	+	2	0	CCT5	10307792	1.000000	0.71417	0.994000	0.49952	0.844000	0.47949	8.793000	0.91862	2.146000	0.66826	0.524000	0.50904	GAT		0.418	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2				19	74	0	0	0	0.012319	0	19	74		
C5orf51	285636	broad.mit.edu	37	5	41917223	41917223	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:41917223A>G	ENST00000381647.2	+	6	726	c.707A>G	c.(706-708)gAt>gGt	p.D236G		NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	236										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CATGAAGTGGATACTAGTGTG	0.418																																						uc003jmo.2		NaN																	0					0						c.(706-708)GAT>GGT		hypothetical protein LOC285636							124.0	119.0	121.0					5																	41917223		2203	4300	6503	SO:0001583	missense	285636							g.chr5:41917223A>G	AL833916, AK094002	CCDS34151.1	5p13.1	2008-07-18			ENSG00000205765	ENSG00000205765			27750	protein-coding gene	gene with protein product						14702039	Standard	NM_175921		Approved	LOC285636	uc003jmo.3	A6NDU8	OTTHUMG00000162084	ENST00000381647.2:c.707A>G	5.37:g.41917223A>G	ENSP00000371061:p.Asp236Gly						p.D236G	NM_175921	NP_787117	A6NDU8	CE051_HUMAN			6	707	+			236					A2RRM9	Missense_Mutation	SNP	ENST00000381647.2	37	c.707A>G	CCDS34151.1	.	.	.	.	.	.	.	.	.	.	A	6.154	0.396652	0.11638	.	.	ENSG00000205765	ENST00000381647	D	0.82167	-1.58	5.54	3.0	0.34707	.	0.312791	0.27871	N	0.017519	T	0.66538	0.2799	N	0.19112	0.55	0.09310	N	1	B	0.14438	0.01	B	0.16289	0.015	T	0.56214	-0.8016	10	0.54805	T	0.06	-0.101	2.9928	0.05988	0.6366:0.1354:0.0803:0.1477	.	236	A6NDU8	CE051_HUMAN	G	236	ENSP00000371061:D236G	ENSP00000371061:D236G	D	+	2	0	C5orf51	41952980	1.000000	0.71417	0.027000	0.17364	0.087000	0.18053	5.116000	0.64661	0.919000	0.36945	0.460000	0.39030	GAT		0.418	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367144.1		NM_175921		33	61	0	0	0	0.012213	0	33	61		
MAP3K1	4214	broad.mit.edu	37	5	56181840	56181840	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:56181840G>A	ENST00000399503.3	+	17	4064	c.4064G>A	c.(4063-4065)cGt>cAt	p.R1355H		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1355	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAGTTACTCCGTGGCCTTTCG	0.338																																						uc003jqw.3		NaN																	0				ovary(1)|skin(1)	2						c.(4063-4065)CGT>CAT		mitogen-activated protein kinase kinase kinase							96.0	89.0	91.0					5																	56181840		1834	4085	5919	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56181840G>A	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4064G>A	5.37:g.56181840G>A	ENSP00000382423:p.Arg1355His						p.R1355H	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	17	4565	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	1355			Protein kinase.			Missense_Mutation	SNP	ENST00000399503.3	37	c.4064G>A	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969797	0.92855	.	.	ENSG00000095015	ENST00000399503	T	0.67698	-0.28	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79604	0.4474	L	0.56340	1.77	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.79112	-0.1937	10	0.51188	T	0.08	.	19.414	0.94688	0.0:0.0:1.0:0.0	.	1355	Q13233	M3K1_HUMAN	H	1355	ENSP00000382423:R1355H	ENSP00000382423:R1355H	R	+	2	0	MAP3K1	56217597	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.367000	0.73099	2.591000	0.87537	0.655000	0.94253	CGT		0.338	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2		XM_042066		25	43	0	0	0	0.007291	0	25	43		
MEF2C	4208	broad.mit.edu	37	5	88018629	88018629	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:88018629G>C	ENST00000437473.2	-	11	1631	c.1214C>G	c.(1213-1215)cCt>cGt	p.P405R	MEF2C_ENST00000510942.1_Missense_Mutation_p.P397R|MEF2C_ENST00000514028.1_Missense_Mutation_p.P405R|MEF2C_ENST00000506554.1_Missense_Mutation_p.L381V|MEF2C_ENST00000504921.2_Missense_Mutation_p.P405R|MEF2C_ENST00000340208.5_Missense_Mutation_p.P415R|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000514015.1_Missense_Mutation_p.P373R|MEF2C_ENST00000508569.1_Missense_Mutation_p.P365R|MEF2C_ENST00000539796.1_Missense_Mutation_p.P349R|MEF2C_ENST00000424173.2_Missense_Mutation_p.P395R	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	405					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		GTATCTCGAAGGGGTGGTGGT	0.532										HNSCC(66;0.2)																												uc003kjj.2		NaN																	0				lung(3)|breast(2)|ovary(1)|large_intestine(1)	7						c.(1213-1215)CCT>CGT		myocyte enhancer factor 2C isoform 1							119.0	123.0	122.0					5																	88018629		2000	4173	6173	SO:0001583	missense	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88018629G>C	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.1214C>G	5.37:g.88018629G>C	ENSP00000396219:p.Pro405Arg	HNSCC(66;0.2)				MEF2C_uc003kji.2_Missense_Mutation_p.P397R|MEF2C_uc003kjk.2_Missense_Mutation_p.P405R|MEF2C_uc003kjm.2_Missense_Mutation_p.P395R|MEF2C_uc003kjl.2_Missense_Mutation_p.P415R	p.P405R	NM_002397	NP_002388	Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	11	1887	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	405					C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	c.1214C>G	CCDS47245.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.43|16.43	3.122469|3.122469	0.56613|0.56613	.|.	.|.	ENSG00000081189|ENSG00000081189	ENST00000506554|ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000508569;ENST00000514015;ENST00000539796	T|T;T;T;T;T;T;T;T;T	0.65364|0.70399	-0.15|-0.13;-0.08;-0.07;-0.09;-0.09;-0.09;-0.48;-0.42;0.29	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.051296	.|0.85682	.|D	.|0.000000	D|D	0.83723|0.83723	0.5316|0.5316	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	.|B;P;D;D	.|0.89917	.|0.029;0.935;1.0;0.979	.|B;P;D;P	.|0.85130	.|0.011;0.828;0.997;0.81	D|D	0.84862|0.84862	0.0820|0.0820	7|10	0.87932|0.87932	D|D	0|0	-4.8669|-4.8669	19.2105|19.2105	0.93753|0.93753	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|395;415;405;397	.|C9JMZ0;F8W7V7;Q06413;Q06413-2	.|.;.;MEF2C_HUMAN;.	V|R	381|415;395;405;405;405;397;365;373;349	ENSP00000425636:L381V|ENSP00000340874:P415R;ENSP00000389610:P395R;ENSP00000421925:P405R;ENSP00000426665:P405R;ENSP00000396219:P405R;ENSP00000422390:P397R;ENSP00000423597:P365R;ENSP00000424606:P373R;ENSP00000441153:P349R	ENSP00000425636:L381V|ENSP00000340874:P415R	L|P	-|-	1|2	0|0	MEF2C|MEF2C	88054385|88054385	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.420000|9.420000	0.97426|0.97426	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	CTT|CCT		0.532	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1		NM_002397		14	31	0	0	0	0.00245	0	14	31		
SNCAIP	9627	broad.mit.edu	37	5	121786478	121786478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:121786478C>T	ENST00000261368.8	+	10	2198	c.1936C>T	c.(1936-1938)Cag>Tag	p.Q646*	CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000261367.7_Nonsense_Mutation_p.Q693*|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000414317.2_Nonsense_Mutation_p.Q248*|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000542191.1_Nonsense_Mutation_p.Q204*|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379536.2_Nonsense_Mutation_p.Q586*|SNCAIP_ENST00000379533.2_Nonsense_Mutation_p.Q693*|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379538.3_Nonsense_Mutation_p.Q280*	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	646					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CCAGGATGCTCAGGCTTCCTC	0.443																																						uc003ksw.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(1936-1938)CAG>TAG		synuclein alpha interacting protein							40.0	45.0	43.0					5																	121786478		2203	4300	6503	SO:0001587	stop_gained	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121786478C>T	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1936C>T	5.37:g.121786478C>T	ENSP00000261368:p.Gln646*					SNCAIP_uc011cwl.1_Nonsense_Mutation_p.Q204*|SNCAIP_uc003ksx.1_Nonsense_Mutation_p.Q693*|SNCAIP_uc003ksy.1_Nonsense_Mutation_p.Q280*|SNCAIP_uc003ksz.1_Nonsense_Mutation_p.Q280*|SNCAIP_uc010jcu.2_Nonsense_Mutation_p.Q242*|SNCAIP_uc011cwm.1_Nonsense_Mutation_p.Q280*|SNCAIP_uc003kta.1_Nonsense_Mutation_p.Q278*|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Nonsense_Mutation_p.Q340*|SNCAIP_uc010jcx.1_Nonsense_Mutation_p.Q586*|uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Nonsense_Mutation_p.Q162*	p.Q646*	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	10	2142	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	646					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Nonsense_Mutation	SNP	ENST00000261368.8	37	c.1936C>T	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	C	39	7.595065	0.98381	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317;ENST00000447854	.	.	.	6.06	6.06	0.98353	.	0.123352	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-13.0567	20.6208	0.99490	0.0:1.0:0.0:0.0	.	.	.	.	X	204;586;646;693;586;280;693;248;286	.	ENSP00000261367:Q693X	Q	+	1	0	SNCAIP	121814377	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.487000	0.60293	2.882000	0.98803	0.655000	0.94253	CAG		0.443	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1				10	47	0	0	0	0.006214	0	10	47		
RAPGEF6	51735	broad.mit.edu	37	5	130799891	130799891	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:130799891C>T	ENST00000509018.1	-	18	2528	c.2323G>A	c.(2323-2325)Gaa>Aaa	p.E775K	RAPGEF6_ENST00000512052.1_Missense_Mutation_p.E490K|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E775K|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E775K|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E780K|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E775K|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.E825K|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E775K	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	775	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AAAACTACTTCTTTAGCTGTG	0.368																																					Melanoma(168;435 1955 13113 13877 23213)	uc003kvn.1		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(2323-2325)GAA>AAA		PDZ domain-containing guanine nucleotide							95.0	83.0	87.0					5																	130799891		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130799891C>T	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.2323G>A	5.37:g.130799891C>T	ENSP00000421684:p.Glu775Lys					RAPGEF6_uc003kvp.1_Missense_Mutation_p.E825K|RAPGEF6_uc003kvo.1_Missense_Mutation_p.E780K|RAPGEF6_uc010jdi.1_Missense_Mutation_p.E775K|RAPGEF6_uc010jdj.1_Missense_Mutation_p.E775K|RAPGEF6_uc003kvq.2_Missense_Mutation_p.E492K|RAPGEF6_uc003kvr.2_Missense_Mutation_p.E775K|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.E775K	p.E775K	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	18	2529	-			775			Ras-associating.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.2323G>A	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	C	37	6.097673	0.97281	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95	5.64	5.64	0.86602	Ras-association (3);Ras guanine nucleotide exchange factor, domain (1);	0.045225	0.85682	D	0.000000	T	0.47581	0.1453	M	0.73962	2.25	0.80722	D	1	D;P;P;D;D;P;P	0.53619	0.961;0.932;0.917;0.961;0.961;0.951;0.868	P;P;P;P;P;P;P	0.61328	0.852;0.808;0.709;0.852;0.887;0.769;0.88	T	0.45338	-0.9268	10	0.87932	D	0	.	19.6995	0.96047	0.0:1.0:0.0:0.0	.	775;775;775;490;825;780;775	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	K	775;780;775;775;780;490;775;775;825	ENSP00000421684:E775K;ENSP00000309298:E780K;ENSP00000426081:E775K;ENSP00000296859:E775K;ENSP00000426910:E490K;ENSP00000311419:E775K;ENSP00000425389:E775K;ENSP00000426948:E825K	ENSP00000426948:E825K	E	-	1	0	RAPGEF6;FNIP1	130827790	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.445000	0.80570	2.652000	0.90054	0.650000	0.86243	GAA		0.368	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1		NM_016340		23	30	0	0	0	0.014323	0	23	30		
DDX46	9879	broad.mit.edu	37	5	134143532	134143532	+	Silent	SNP	A	A	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:134143532A>C	ENST00000354283.4	+	16	2184	c.2049A>C	c.(2047-2049)ctA>ctC	p.L683L	DDX46_ENST00000452510.2_Silent_p.L683L			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	683	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCCGAGGTCTAGATGTGAAAC	0.438																																					Colon(13;391 453 4901 21675 24897)	uc003kzw.2		NaN																	0				ovary(1)	1						c.(2047-2049)CTA>CTC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							84.0	86.0	85.0					5																	134143532		2203	4300	6503	SO:0001819	synonymous_variant	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134143532A>C		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2049A>C	5.37:g.134143532A>C						DDX46_uc003kzv.1_RNA	p.L683L	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		16	2217	+			683			Helicase C-terminal.		O94894|Q96EI0|Q9Y658	Silent	SNP	ENST00000354283.4	37	c.2049A>C	CCDS34240.1																																																																																				0.438	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1		NM_014829		22	37	0	0	0	0.014323	0	22	37		
FAM13B	51306	broad.mit.edu	37	5	137278576	137278576	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:137278576C>G	ENST00000033079.3	-	21	2961	c.2510G>C	c.(2509-2511)cGa>cCa	p.R837P	FAM13B_ENST00000420893.2_Missense_Mutation_p.R809P|FAM13B_ENST00000425075.2_Missense_Mutation_p.R713P	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	837					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						AGAAGCTGCTCGAGAACTTGA	0.323																																						uc003lbz.2		NaN																	0					0						c.(2509-2511)CGA>CCA		hypothetical protein LOC51306 isoform 1							107.0	108.0	108.0					5																	137278576		2203	4300	6503	SO:0001583	missense	51306				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137278576C>G	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.2510G>C	5.37:g.137278576C>G	ENSP00000033079:p.Arg837Pro					FAM13B_uc003lcb.2_Missense_Mutation_p.R713P|FAM13B_uc003lca.2_Missense_Mutation_p.R809P	p.R837P	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN			21	3044	-			837					D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	37	c.2510G>C	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135827	0.77662	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	T;T;T	0.23147	2.99;1.92;3.03	5.77	5.77	0.91146	.	0.225320	0.42548	D	0.000690	T	0.41003	0.1140	N	0.22421	0.69	0.45899	D	0.998742	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.77557	0.99;0.974;0.958	T	0.28202	-1.0051	10	0.72032	D	0.01	-7.5372	20.3473	0.98799	0.0:1.0:0.0:0.0	.	713;809;837	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	P	837;713;809	ENSP00000033079:R837P;ENSP00000394669:R713P;ENSP00000388521:R809P	ENSP00000033079:R837P	R	-	2	0	FAM13B	137306475	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.212000	0.58514	2.884000	0.98904	0.655000	0.94253	CGA		0.323	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1				35	43	0	0	0	0.003271	0	35	43		
PCDHA11	56138	broad.mit.edu	37	5	140249821	140249821	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:140249821C>G	ENST00000398640.2	+	1	1133	c.1133C>G	c.(1132-1134)tCa>tGa	p.S378*	PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	378	Cadherin 4. {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)	p.S378L(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCGTGACTCAGGTGTCAAC	0.587																																						uc003lia.2		NaN																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1132-1134)TCA>TGA		protocadherin alpha 11 isoform 1 precursor							102.0	94.0	97.0					5																	140249821		2203	4300	6503	SO:0001587	stop_gained	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140249821C>G	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1133C>G	5.37:g.140249821C>G	ENSP00000381636:p.Ser378*					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Nonsense_Mutation_p.S378*	p.S378*	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1991	+			378			Cadherin 4.|Extracellular (Potential).		B2RN58|O75279	Nonsense_Mutation	SNP	ENST00000398640.2	37	c.1133C>G	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215489	0.58452	.	.	ENSG00000249158	ENST00000398640	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7493	0.96261	0.0:1.0:0.0:0.0	.	.	.	.	X	378	.	ENSP00000381636:S378X	S	+	2	0	PCDHA11	140230005	0.880000	0.30214	0.347000	0.25668	0.066000	0.16364	2.523000	0.45580	2.767000	0.95098	0.563000	0.77884	TCA		0.587	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2		NM_018902		18	72	0	0	0	0.00499	0	18	72		
ARHGEF37	389337	broad.mit.edu	37	5	149011634	149011634	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:149011634C>A	ENST00000333677.6	+	13	2071	c.1908C>A	c.(1906-1908)gaC>gaA	p.D636E		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	636	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						AGGCCCAGGACAAGAAGGGGA	0.592																																						uc003lra.1		NaN																	0					0						c.(1906-1908)GAC>GAA		hypothetical protein LOC389337							88.0	91.0	90.0					5																	149011634		1963	4169	6132	SO:0001583	missense	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:149011634C>A	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1908C>A	5.37:g.149011634C>A	ENSP00000328083:p.Asp636Glu						p.D636E	NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN			13	1972	+			636			SH3 2.		Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	c.1908C>A	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241753	0.95272	.	.	ENSG00000183111	ENST00000333677	T	0.70749	-0.51	5.44	5.44	0.79542	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	D	0.83649	0.5300	M	0.65677	2.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85082	0.0946	10	0.87932	D	0	.	18.8438	0.92196	0.0:1.0:0.0:0.0	.	636	A1IGU5	ARH37_HUMAN	E	636	ENSP00000328083:D636E	ENSP00000328083:D636E	D	+	3	2	ARHGEF37	148991827	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.436000	0.52856	2.545000	0.85829	0.655000	0.94253	GAC		0.592	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1		NM_001001669		7	50	1	0	0.00198382	0.001984	0.00201935	7	50		
SLC36A3	285641	broad.mit.edu	37	5	150660726	150660726	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:150660726C>T	ENST00000335230.3	-	9	1404	c.993G>A	c.(991-993)aaG>aaA	p.K331K	SLC36A3_ENST00000377713.3_Silent_p.K372K	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	331						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTACATCAGCTTGACTGACT	0.517																																						uc003ltw.2		NaN																	0				ovary(2)|skin(1)	3						c.(991-993)AAG>AAA		solute carrier family 36, member 3 isoform 2							209.0	161.0	177.0					5																	150660726		2203	4300	6503	SO:0001819	synonymous_variant	285641					integral to membrane		g.chr5:150660726C>T	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"""Solute carriers"""	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.993G>A	5.37:g.150660726C>T						GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Silent_p.K316K|SLC36A3_uc003ltx.2_Silent_p.K372K	p.K331K	NM_181774	NP_861439	Q495N2	S36A3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1412	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	331			Extracellular (Potential).		Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Silent	SNP	ENST00000335230.3	37	c.993G>A	CCDS4314.1																																																																																				0.517	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1		NM_181774		8	60	0	0	0	0.006214	0	8	60		
CYFIP2	26999	broad.mit.edu	37	5	156714072	156714072	+	Silent	SNP	G	G	T	rs375350435		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:156714072G>T	ENST00000521420.1	+	3	253	c.162G>T	c.(160-162)acG>acT	p.T54T	CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000347377.6_Silent_p.T54T|CYFIP2_ENST00000318218.6_Silent_p.T54T|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000522463.1_Silent_p.T54T|CYFIP2_ENST00000377576.3_Silent_p.T54T					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATTTGTCACGGGCATTGCAA	0.502																																						uc003lwq.2		NaN																	0					0						c.(160-162)ACG>ACT		cytoplasmic FMR1 interacting protein 2							86.0	86.0	86.0					5																	156714072		2070	4223	6293	SO:0001819	synonymous_variant	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156714072G>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.162G>T	5.37:g.156714072G>T						CYFIP2_uc011ddn.1_Silent_p.T54T|CYFIP2_uc011ddo.1_Silent_p.T54T|CYFIP2_uc003lwr.2_Silent_p.T54T|CYFIP2_uc003lws.2_Silent_p.T54T|CYFIP2_uc003lwp.2_5'UTR	p.T54T	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	300	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	54						Silent	SNP	ENST00000521420.1	37	c.162G>T																																																																																					0.502	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1		NM_001037332		3	29	1	0	2.56e-06	0.009096	2.67779e-06	3	29		
GABRA6	2559	broad.mit.edu	37	5	161128777	161128777	+	Nonstop_Mutation	SNP	T	T	A	rs201411758		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:161128777T>A	ENST00000274545.5	+	9	1793	c.1360T>A	c.(1360-1362)Tag>Aag	p.*454K	GABRA6_ENST00000523217.1_Nonstop_Mutation_p.*444K			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	0					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CAGTGTTGAATAGCTTGCGGC	0.383										TCGA Ovarian(5;0.080)																												uc003lyu.2		NaN																	0				ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(1360-1362)TAG>AAG		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						89.0	81.0	84.0					5																	161128777		2203	4300	6503	SO:0001578	stop_lost	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161128777T>A		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1360T>A	5.37:g.161128777T>A	ENSP00000274545:p.*454Lysext*7	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_Nonstop_Mutation_p.*225K	p.*454K	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1698	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	454					A8K096|Q4VAV2	Nonstop_Mutation	SNP	ENST00000274545.5	37	c.1360T>A	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	T	5.458	0.269672	0.10349	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	.	.	.	5.16	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.8173	0.29267	0.1849:0.0:0.0:0.815	.	.	.	.	K	454;444	.	.	X	+	1	0	GABRA6	161061355	0.971000	0.33674	0.989000	0.46669	0.104000	0.19210	2.162000	0.42367	2.079000	0.62486	0.533000	0.62120	TAG		0.383	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2				14	68	0	0	0	0.003163	0	14	68		
TLX3	30012	broad.mit.edu	37	5	170737358	170737358	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr5:170737358A>T	ENST00000296921.5	+	2	708	c.626A>T	c.(625-627)cAg>cTg	p.Q209L		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	209					central nervous system development (GO:0007417)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|respiratory gaseous exchange (GO:0007585)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACGGACGCGCAGGTCAAGACC	0.642			T	BCL11B	T-ALL																																Esophageal Squamous(33;43 807 3116 3348 30094)	uc003mbf.2		NaN		Dom	yes		5	5q35.1	30012	T	"""T-cell leukemia, homeobox 3 (HOX11L2)"""			L	BCL11B		T-ALL		0				central_nervous_system(1)	1						c.(625-627)CAG>CTG		T-cell leukemia homeobox 3							32.0	32.0	32.0					5																	170737358		2203	4300	6503	SO:0001583	missense	30012					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:170737358A>T	AJ223798	CCDS34288.1	5q35.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000164438	ENSG00000164438		"""Homeoboxes / ANTP class : NKL subclass"""	13532	protein-coding gene	gene with protein product		604640	"""homeo box 11-like 2"", ""T-cell leukemia, homeobox 3"""	HOX11L2		11435718, 11435716	Standard	NM_021025		Approved	RNX	uc003mbf.3	O43711	OTTHUMG00000163207	ENST00000296921.5:c.626A>T	5.37:g.170737358A>T	ENSP00000296921:p.Gln209Leu					uc003mbe.1_5'Flank	p.Q209L	NM_021025	NP_066305	O43711	TLX3_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		2	708	+	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	209			Homeobox.		Q96AD3	Missense_Mutation	SNP	ENST00000296921.5	37	c.626A>T	CCDS34288.1	.	.	.	.	.	.	.	.	.	.	A	18.69	3.677047	0.68042	.	.	ENSG00000164438	ENST00000296921	D	0.97114	-4.25	4.46	3.25	0.37280	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.054577	0.85682	D	0.000000	D	0.98807	0.9598	H	0.96576	3.845	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.98494	1.0611	10	0.87932	D	0	.	10.5823	0.45263	0.8376:0.1624:0.0:0.0	.	209	O43711	TLX3_HUMAN	L	209	ENSP00000296921:Q209L	ENSP00000296921:Q209L	Q	+	2	0	TLX3	170669963	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.309000	0.96252	0.539000	0.28788	0.413000	0.27773	CAG		0.642	TLX3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372076.3				3	15	0	0	0	0.009096	0	3	15		
FOXC1	2296	broad.mit.edu	37	6	1610867	1610867	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr6:1610867G>A	ENST00000380874.2	+	1	187	c.187G>A	c.(187-189)Gcc>Acc	p.A63T		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	63					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		CATGGCCCGCGCCTACGGGCC	0.721																																					Pancreas(133;719 1821 3197 26645 35015)	uc003mtp.2		NaN																	0				ovary(1)	1						c.(187-189)GCC>ACC		forkhead box C1							22.0	24.0	24.0					6																	1610867		2203	4299	6502	SO:0001583	missense	2296				anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr6:1610867G>A	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"""Forkhead boxes"""	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.187G>A	6.37:g.1610867G>A	ENSP00000370256:p.Ala63Thr						p.A63T	NM_001453	NP_001444	Q12948	FOXC1_HUMAN		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)	1	187	+	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	63					Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Missense_Mutation	SNP	ENST00000380874.2	37	c.187G>A	CCDS4473.1	.	.	.	.	.	.	.	.	.	.	g	20.4	3.985621	0.74589	.	.	ENSG00000054598	ENST00000541209;ENST00000380874	D	0.93189	-3.18	3.86	3.86	0.44501	.	0.157867	0.40385	U	0.001111	D	0.85137	0.5628	L	0.36672	1.1	0.58432	D	0.999999	D	0.53312	0.959	B	0.42245	0.381	D	0.85651	0.1282	10	0.41790	T	0.15	.	12.5608	0.56279	0.0:0.1692:0.8308:0.0	.	63	Q12948	FOXC1_HUMAN	T	63	ENSP00000370256:A63T	ENSP00000370256:A63T	A	+	1	0	FOXC1	1555866	0.995000	0.38212	1.000000	0.80357	0.992000	0.81027	1.381000	0.34362	1.842000	0.53543	0.457000	0.33378	GCC		0.721	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1				4	44	0	0	0	0.009096	0	4	44		
TFAP2A	7020	broad.mit.edu	37	6	10400738	10400738	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr6:10400738C>G	ENST00000482890.1	-	7	1320	c.968G>C	c.(967-969)cGa>cCa	p.R323P	TFAP2A_ENST00000379608.3_Missense_Mutation_p.R317P|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379613.3_Missense_Mutation_p.R325P|TFAP2A_ENST00000319516.4_Missense_Mutation_p.R319P|TFAP2A_ENST00000379604.2_Missense_Mutation_p.R323P			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	323	H-S-H (helix-span-helix), dimerization.				anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GGAATGTTGTCGGTTGAGAAA	0.488																																						uc003myr.2		NaN																	0				ovary(1)	1						c.(967-969)CGA>CCA		transcription factor AP-2 alpha isoform a							164.0	146.0	152.0					6																	10400738		2203	4300	6503	SO:0001583	missense	7020				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr6:10400738C>G	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.968G>C	6.37:g.10400738C>G	ENSP00000418541:p.Arg323Pro					TFAP2A_uc003myq.2_Missense_Mutation_p.R317P|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_Intron|TFAP2A_uc003myt.2_Missense_Mutation_p.R319P	p.R323P	NM_003220	NP_003211	P05549	AP2A_HUMAN			6	1220	-	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)	323			H-S-H (helix-span-helix), dimerization.		Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	ENST00000482890.1	37	c.968G>C	CCDS4510.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503578	0.85176	.	.	ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890	D;D;D;D;D	0.97279	-4.32;-4.32;-4.32;-4.32;-4.32	5.29	5.29	0.74685	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98858	0.9614	M	0.92555	3.32	0.80722	D	1	D;D;D	0.89917	0.999;0.994;1.0	D;P;D	0.97110	0.996;0.897;1.0	D	0.99774	1.1025	10	0.87932	D	0	-3.7673	18.9454	0.92620	0.0:1.0:0.0:0.0	.	319;323;317	Q5TAV5;P05549;Q8N1C6	.;AP2A_HUMAN;.	P	325;323;319;317;323	ENSP00000368933:R325P;ENSP00000368924:R323P;ENSP00000316516:R319P;ENSP00000368928:R317P;ENSP00000418541:R323P	ENSP00000316516:R319P	R	-	2	0	TFAP2A	10508724	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.463000	0.83235	0.655000	0.94253	CGA		0.488	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2		NM_003220		24	62	0	0	0	0.00333	0	24	62		
MICA	100507436	broad.mit.edu	37	6	31378395	31378395	+	Missense_Mutation	SNP	T	T	C	rs17200158	byFrequency	TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr6:31378395T>C	ENST00000449934.2	+	2	200	c.146T>C	c.(145-147)gTa>gCa	p.V49A	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				CTTGCTGAGGTACATCTGGAT	0.542																																						uc003ntk.1		NaN																	0					0						c.(145-147)GTA>GCA		RecName: Full=MHC class I polypeptide-related sequence A;          Short=MIC-A; Flags: Precursor;							25.0	27.0	26.0					6																	31378395		692	1591	2283	SO:0001583	missense	4276							g.chr6:31378395T>C	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"""Immunoglobulin superfamily / C1-set domain containing"""	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.146T>C	6.37:g.31378395T>C	ENSP00000413079:p.Val49Ala					MICA_uc003rxz.1_5'UTR	p.V49A							2	185	+		Ovarian(999;0.0253)							Missense_Mutation	SNP	ENST00000449934.2	37	c.146T>C	CCDS56412.1	.	.	.	.	.	.	.	.	.	.	N	12.53	1.966904	0.34659	.	.	ENSG00000204520	ENST00000364810;ENST00000399172;ENST00000449934;ENST00000421350	T;T	0.00678	5.87;5.87	2.89	-2.26	0.06867	.	0.771090	0.10521	N	0.665040	T	0.00271	0.0008	N	0.14661	0.345	0.09310	N	1	B	0.33777	0.425	B	0.42798	0.398	T	0.42413	-0.9453	10	0.59425	D	0.04	.	2.5985	0.04860	0.2645:0.0:0.3426:0.3929	.	49	Q96QC4	.	A	49;49;49;36	ENSP00000413079:V49A;ENSP00000402410:V36A	ENSP00000365394:V49A	V	+	2	0	MICA	31486374	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	-0.737000	0.04877	-0.358000	0.08162	-0.820000	0.03113	GTA		0.542	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7		NM_001177519		5	23	0	0	0	0.000602	0	5	23		
VWA7	80737	broad.mit.edu	37	6	31733543	31733543	+	Missense_Mutation	SNP	C	C	T	rs375942272	byFrequency	TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr6:31733543C>T	ENST00000375688.4	-	17	2704	c.2504G>A	c.(2503-2505)cGg>cAg	p.R835Q	SAPCD1-AS1_ENST00000419679.1_RNA|VWA7_ENST00000467576.1_5'Flank|VWA7_ENST00000375686.3_Silent_p.P844P			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	835						extracellular region (GO:0005576)		p.R835Q(1)									GGTGGTGTGCCGGTCCTGTGG	0.597													T|||	2	0.000399361	0.0	0.0	5008	,	,		16929	0.0		0.0	False		,,,				2504	0.002					uc011dog.1		NaN																	1	Substitution - Missense(1)	p.R835Q(1)	ovary(1)	ovary(3)	3						c.(2503-2505)CGG>CAG		G7c protein precursor		T	GLN/ARG	0,3022		0,0,1511	93.0	49.0	65.0		2504	2.4	0.0	6		65	1,5417		0,1,2708	no	missense	C6orf27	NM_025258.2	43	0,1,4219	TT,TC,CC		0.0185,0.0,0.0118	benign	835/892	31733543	1,8439	1511	2709	4220	SO:0001583	missense	80737					extracellular region		g.chr6:31733543C>T		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.2504G>A	6.37:g.31733543C>T	ENSP00000364840:p.Arg835Gln						p.R835Q	NM_025258	NP_079534	Q9Y334	G7C_HUMAN			17	2742	-			835					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	c.2504G>A	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	T	0.826	-0.747080	0.03065	0.0	1.85E-4	ENSG00000204396	ENST00000375688	T	0.10192	2.9	4.87	2.42	0.29668	.	1.482110	0.04450	N	0.372373	T	0.00967	0.0032	N	0.02247	-0.625	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.42699	-0.9436	10	0.10111	T	0.7	0.1777	4.2278	0.10589	0.0:0.1831:0.1732:0.6438	.	835	Q9Y334	G7C_HUMAN	Q	835	ENSP00000364840:R835Q	ENSP00000364840:R835Q	R	-	2	0	C6orf27	31841522	0.968000	0.33430	0.001000	0.08648	0.000000	0.00434	0.292000	0.19011	0.097000	0.17492	-0.269000	0.10298	CGG		0.597	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2		NM_025258		3	34	0	0	0	0.004672	0	3	34		
AGPAT1	10554	broad.mit.edu	37	6	32138226	32138226	+	Silent	SNP	G	G	A	rs141411867		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr6:32138226G>A	ENST00000395499.1	-	4	1065	c.486C>T	c.(484-486)gtC>gtT	p.V162V	AGPAT1_ENST00000395496.1_Silent_p.V162V|AGPAT1_ENST00000375104.2_Silent_p.V162V|AGPAT1_ENST00000375107.3_Silent_p.V162V|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000395497.1_Silent_p.V162V|AGPAT1_ENST00000490711.1_Intron|AGPAT1_ENST00000336984.6_Silent_p.V162V|AGPAT1_ENST00000412465.2_Silent_p.V50V			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	162					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						GGGTCTGGGCGACCTCAGACA	0.582																																						uc003oae.2		NaN																	0				central_nervous_system(1)	1						c.(484-486)GTC>GTT		1-acylglycerol-3-phosphate O-acyltransferase 1							77.0	80.0	79.0					6																	32138226		1511	2709	4220	SO:0001819	synonymous_variant	10554				energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr6:32138226G>A	U56417	CCDS4744.1	6p21.3	2013-02-05	2013-02-05		ENSG00000204310	ENSG00000204310	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	324	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, alpha"""	603099	"""1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)"""			9461603, 9291118	Standard	NM_032741		Approved	LPAAT-alpha	uc003oae.3	Q99943	OTTHUMG00000031210	ENST00000395499.1:c.486C>T	6.37:g.32138226G>A						PPT2_uc003nzy.1_RNA|AGPAT1_uc011dpj.1_RNA|AGPAT1_uc011dpk.1_Silent_p.V126V|AGPAT1_uc003oaf.2_Silent_p.V162V|AGPAT1_uc003oag.2_Intron|AGPAT1_uc003oah.2_Silent_p.V162V|AGPAT1_uc003oai.1_Silent_p.V162V|AGPAT1_uc011dpl.1_Silent_p.V50V	p.V162V	NM_006411	NP_006402	Q99943	PLCA_HUMAN			4	804	-			162					A2BFI5|Q5BL03	Silent	SNP	ENST00000395499.1	37	c.486C>T	CCDS4744.1																																																																																				0.582	AGPAT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268941.1		NM_006411		28	45	0	0	0	0.00632	0	28	45		
PACSIN1	29993	broad.mit.edu	37	6	34494142	34494143	+	Nonsense_Mutation	DNP	GG	GG	CT			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr6:34494142_34494143GG>CT	ENST00000538621.1	+	2	305_306	c.60_61GG>CT	c.(58-63)tgGGag>tgCTag	p.20_21WE>C*	PACSIN1_ENST00000244458.2_Nonsense_Mutation_p.20_21WE>C*|PACSIN1_ENST00000486120.1_3'UTR|PACSIN1_ENST00000374043.2_5'UTR	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	20	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						ACAGCTTCTGGGAGGTGAGGCT	0.629																																						uc003ojo.2		NaN																	0					0						c.(58-63)TGGGAG>TGCTAG		protein kinase C and casein kinase substrate in																																				SO:0001587	stop_gained	29993				endocytosis		protein kinase activity	g.chr6:34494142_34494143GG>CT	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	Exception_encountered	6.37:g.34494142_34494143delinsCT	ENSP00000439639:p.W20_E21delinsC*					PACSIN1_uc003ojp.2_Nonsense_Mutation_p.20_21WE>C*	p.20_21WE>C*	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN			2	266_267	+			20_21			FCH.		Q9P2G8	Nonsense_Mutation	DNP	ENST00000538621.1	37	c.60_61GG>CT	CCDS4793.1																																																																																				0.629	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1				8	26	0	0	0	0.004672	0	8	26		
PHF3	23469	broad.mit.edu	37	6	64408130	64408130	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr6:64408130G>C	ENST00000262043.3	+	7	3038	c.2698G>C	c.(2698-2700)Gag>Cag	p.E900Q	PHF3_ENST00000393387.1_Missense_Mutation_p.E900Q			Q92576	PHF3_HUMAN	PHD finger protein 3	900					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TGAGAAGCAAGAGATGAAAAA	0.333																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1		NaN																	0				ovary(3)|lung(1)|skin(1)	5						c.(2698-2700)GAG>CAG		PHD finger protein 3							82.0	82.0	82.0					6																	64408130		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64408130G>C	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.2698G>C	6.37:g.64408130G>C	ENSP00000262043:p.Glu900Gln					PHF3_uc010kag.1_Missense_Mutation_p.E812Q|PHF3_uc010kah.1_Missense_Mutation_p.E714Q|PHF3_uc003pen.2_Missense_Mutation_p.E812Q|PHF3_uc011dxs.1_Missense_Mutation_p.E169Q	p.E900Q	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		6	2724	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		900					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.2698G>C	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002507	0.54254	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T;T	0.48522	2.06;1.14;0.81;2.06;2.06	5.64	5.64	0.86602	.	0.000000	0.40144	N	0.001168	T	0.64405	0.2595	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.63839	-0.6546	10	0.59425	D	0.04	-16.6337	20.0556	0.97650	0.0:0.0:1.0:0.0	.	900	Q92576	PHF3_HUMAN	Q	714;812;169;900;900	ENSP00000424694:E714Q;ENSP00000425227:E812Q;ENSP00000425338:E169Q;ENSP00000262043:E900Q;ENSP00000377048:E900Q	ENSP00000262043:E900Q	E	+	1	0	PHF3	64466089	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	8.478000	0.90428	2.821000	0.97095	0.484000	0.47621	GAG		0.333	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2				28	58	0	0	0	0.008361	0	28	58		
DOPEY1	23033	broad.mit.edu	37	6	83848597	83848597	+	Silent	SNP	T	T	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr6:83848597T>A	ENST00000349129.2	+	21	5096	c.4836T>A	c.(4834-4836)tcT>tcA	p.S1612S	DOPEY1_ENST00000237163.5_Silent_p.S1593S|DOPEY1_ENST00000369739.3_Silent_p.S1603S|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1612					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTGTTGTATCTGACTTAGAAC	0.413																																						uc003pjs.1		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(4834-4836)TCT>TCA		dopey family member 1							93.0	78.0	83.0					6																	83848597		2203	4299	6502	SO:0001819	synonymous_variant	23033				protein transport			g.chr6:83848597T>A	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.4836T>A	6.37:g.83848597T>A						DOPEY1_uc011dyy.1_Silent_p.S1603S|DOPEY1_uc010kbl.1_Silent_p.S1603S|DOPEY1_uc003pjt.2_RNA	p.S1612S	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	21	5096	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1612					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Silent	SNP	ENST00000349129.2	37	c.4836T>A	CCDS4996.1																																																																																				0.413	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2		NM_015018		31	47	0	0	0	0.008361	0	31	47		
TBC1D32	221322	broad.mit.edu	37	6	121577357	121577357	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr6:121577357G>C	ENST00000398212.2	-	16	1857	c.1808C>G	c.(1807-1809)tCa>tGa	p.S603*	TBC1D32_ENST00000275159.6_Nonsense_Mutation_p.S603*	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	603					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										CAACATTTCTGATCCAGAAAA	0.343																																						uc003pyo.1		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(1807-1809)TCA>TGA		hypothetical protein LOC221322																																				SO:0001587	stop_gained	221322				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	g.chr6:121577357G>C	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.1808C>G	6.37:g.121577357G>C	ENSP00000381270:p.Ser603*					C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_Nonsense_Mutation_p.S122*	p.S603*	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	16	1876	-			603					Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Nonsense_Mutation	SNP	ENST00000398212.2	37	c.1808C>G	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	G	38	6.898082	0.97920	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	.	.	.	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-18.5171	18.7765	0.91913	0.0:0.0:1.0:0.0	.	.	.	.	X	603	.	ENSP00000275159:S603X	S	-	2	0	C6orf170	121619056	1.000000	0.71417	0.945000	0.38365	0.661000	0.39034	5.053000	0.64269	2.499000	0.84300	0.655000	0.94253	TCA		0.343	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2		NM_152730		18	32	0	0	0	0.006122	0	18	32		
CCZ1B	221960	broad.mit.edu	37	7	6862992	6862992	+	Splice_Site	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr7:6862992C>A	ENST00000316731.8	-	5	963		c.e5-1		CCZ1B_ENST00000538180.1_Splice_Site	NM_198097.3	NP_932765.1	P86790	CCZ1B_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)							lysosome (GO:0005764)|membrane (GO:0016020)											AAACCTTGTCCTGCAGACGCG	0.478																																						uc003sqx.1		NaN																	0					0						c.e5-1		hypothetical protein LOC221960							88.0	77.0	81.0					7																	6862992		2190	4279	6469	SO:0001630	splice_region_variant	221960					lysosomal membrane		g.chr7:6862992C>A	BC010130	CCDS5354.1	7p22.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000146574	ENSG00000146574			21717	protein-coding gene	gene with protein product	"""similar to CGI-43 protein"""		"""chromosome 7 open reading frame 28B"""	C7orf28B		12477932	Standard	NM_198097		Approved	DKFZP586I1023, H_NH0577018.2, MGC19819	uc003sqx.2	P86790	OTTHUMG00000152441	ENST00000316731.8:c.391-1G>T	7.37:g.6862992C>A						C7orf28B_uc011jxd.1_Splice_Site|C7orf28B_uc003sqy.1_3'UTR	p.D131_splice	NM_198097	NP_932765	P86791	CCZ1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)	5	424	-		Ovarian(82;0.232)						A2RU45|O95766|Q9UG65|Q9Y359	Splice_Site	SNP	ENST00000316731.8	37	c.391_splice	CCDS5354.1	.	.	.	.	.	.	.	.	.	.	C	6.856	0.527289	0.13066	.	.	ENSG00000146574	ENST00000316731	.	.	.	2.72	2.72	0.32119	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2352	0.48936	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C7orf28B	6829517	1.000000	0.71417	0.982000	0.44146	0.069000	0.16628	6.865000	0.75500	1.521000	0.48983	0.194000	0.17425	.		0.478	CCZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246858.1		NM_198097	Intron	5	37	1	0	1.06961e-07	0.00308	1.13626e-07	5	37		
BAZ1B	9031	broad.mit.edu	37	7	72883944	72883944	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr7:72883944G>A	ENST00000339594.4	-	9	3107	c.2769C>T	c.(2767-2769)ttC>ttT	p.F923F	BAZ1B_ENST00000404251.1_Silent_p.F923F	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	923					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTTTTTCAATGAATAATCCTG	0.418																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	uc003tyc.2		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7						c.(2767-2769)TTC>TTT		bromodomain adjacent to zinc finger domain, 1B							186.0	160.0	169.0					7																	72883944		2203	4300	6503	SO:0001819	synonymous_variant	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72883944G>A	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.2769C>T	7.37:g.72883944G>A							p.F923F	NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN			9	3114	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	923					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	ENST00000339594.4	37	c.2769C>T	CCDS5549.1																																																																																				0.418	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4		NM_032408		16	56	0	0	0	0.003163	0	16	56		
SEMA3A	10371	broad.mit.edu	37	7	83758479	83758479	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr7:83758479G>T	ENST00000265362.4	-	3	607	c.293C>A	c.(292-294)aCc>aAc	p.T98N	SEMA3A_ENST00000436949.1_Missense_Mutation_p.T98N	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	98	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ATCTCTTCTGGTGTAAGATAC	0.363																																						uc003uhz.2		NaN																	0				ovary(2)|breast(1)|kidney(1)	4						c.(292-294)ACC>AAC		semaphorin 3A precursor							135.0	120.0	125.0					7																	83758479		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83758479G>T	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.293C>A	7.37:g.83758479G>T	ENSP00000265362:p.Thr98Asn						p.T98N	NM_006080	NP_006071	Q14563	SEM3A_HUMAN			3	608	-			98			Sema.			Missense_Mutation	SNP	ENST00000265362.4	37	c.293C>A	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999475	0.35320	.	.	ENSG00000075213	ENST00000265362;ENST00000436949;ENST00000420047	T;T;T	0.10763	2.84;2.84;2.84	4.96	4.96	0.65561	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.392284	0.30901	N	0.008653	T	0.07999	0.0200	N	0.20685	0.6	0.36208	D	0.85116	B	0.11235	0.004	B	0.17098	0.017	T	0.21109	-1.0255	10	0.34782	T	0.22	.	12.018	0.53326	0.0796:0.0:0.9204:0.0	.	98	Q14563	SEM3A_HUMAN	N	98	ENSP00000265362:T98N;ENSP00000415260:T98N;ENSP00000391900:T98N	ENSP00000265362:T98N	T	-	2	0	SEMA3A	83596415	1.000000	0.71417	0.992000	0.48379	0.976000	0.68499	5.365000	0.66116	2.471000	0.83476	0.305000	0.20034	ACC		0.363	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2		NM_006080		24	78	1	0	1.75199e-13	0.007291	1.92099e-13	24	78		
SEMA3D	223117	broad.mit.edu	37	7	84628794	84628794	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr7:84628794T>C	ENST00000284136.6	-	17	2339	c.2296A>G	c.(2296-2298)Aga>Gga	p.R766G	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	766	Arg/Lys-rich (basic).				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCCAGGTCTCTGTGATGTCTT	0.433																																					Ovarian(63;442 1191 17318 29975 31528)	uc003uic.2		NaN																	0				ovary(3)|large_intestine(2)	5						c.(2296-2298)AGA>GGA		semaphorin 3D precursor							169.0	137.0	148.0					7																	84628794		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84628794T>C	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.2296A>G	7.37:g.84628794T>C	ENSP00000284136:p.Arg766Gly					SEMA3D_uc010led.2_Missense_Mutation_p.R766G|SEMA3D_uc003uib.2_Missense_Mutation_p.R405G	p.R766G	NM_152754	NP_689967	O95025	SEM3D_HUMAN			17	2336	-			766			Arg/Lys-rich (basic).		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.2296A>G	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	T	3.074	-0.190439	0.06299	.	.	ENSG00000153993	ENST00000284136	T	0.29655	1.56	5.93	0.765	0.18470	.	0.339211	0.33553	N	0.004785	T	0.11707	0.0285	N	0.08118	0	0.36906	D	0.890637	B	0.02656	0.0	B	0.01281	0.0	T	0.17653	-1.0362	10	0.19147	T	0.46	.	4.9943	0.14230	0.0:0.2313:0.3038:0.4649	.	766	O95025	SEM3D_HUMAN	G	766	ENSP00000284136:R766G	ENSP00000284136:R766G	R	-	1	2	SEMA3D	84466730	0.445000	0.25657	0.943000	0.38184	0.161000	0.22273	-0.080000	0.11339	-0.088000	0.12506	-0.256000	0.11100	AGA		0.433	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2		NM_152754		25	51	0	0	0	0.00333	0	25	51		
SAMD9	54809	broad.mit.edu	37	7	92732105	92732105	+	Silent	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr7:92732105A>G	ENST00000379958.2	-	3	3575	c.3306T>C	c.(3304-3306)gcT>gcC	p.A1102A		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1102						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CCCAGTTTAGAGCATTGCCAA	0.373																																						uc003umf.2		NaN																	0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(3304-3306)GCT>GCC		sterile alpha motif domain containing 9							85.0	81.0	83.0					7																	92732105		2203	4299	6502	SO:0001819	synonymous_variant	54809					cytoplasm		g.chr7:92732105A>G	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3306T>C	7.37:g.92732105A>G						SAMD9_uc003umg.2_Silent_p.A1102A	p.A1102A	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	3562	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1102					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	ENST00000379958.2	37	c.3306T>C	CCDS34680.1																																																																																				0.373	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1		NM_017654		35	111	0	0	0	0.003271	0	35	111		
KMT2E	55904	broad.mit.edu	37	7	104752743	104752743	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr7:104752743A>C	ENST00000311117.3	+	27	5085	c.4540A>C	c.(4540-4542)Act>Cct	p.T1514P	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000257745.4_Missense_Mutation_p.T1514P|KMT2E_ENST00000334914.7_Missense_Mutation_p.T569P|KMT2E_ENST00000334877.4_Missense_Mutation_p.T1472P	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1514	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										TCAGCAGGCAACTTCTGGAAC	0.473																																						uc003vcm.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(4540-4542)ACT>CCT		myeloid/lymphoid or mixed-lineage leukemia 5							121.0	130.0	127.0					7																	104752743		2203	4300	6503	SO:0001583	missense	55904				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	g.chr7:104752743A>C	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4540A>C	7.37:g.104752743A>C	ENSP00000312379:p.Thr1514Pro					MLL5_uc010ljc.2_Missense_Mutation_p.T1514P|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.T248P	p.T1514P	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			27	5074	+			1514			Pro-rich.		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.4540A>C	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	A	5.838	0.338780	0.11069	.	.	ENSG00000005483	ENST00000311117;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	D;D;D;T	0.91894	-2.93;-2.61;-2.93;0.85	3.62	-2.46	0.06461	.	0.672540	0.12854	N	0.433676	T	0.75339	0.3836	N	0.03608	-0.345	0.39152	D	0.962239	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.58752	-0.7581	10	0.28530	T	0.3	.	3.9943	0.09551	0.1715:0.5517:0.14:0.1368	.	1434;1514	F8W6H1;Q8IZD2	.;MLL5_HUMAN	P	1514;1472;1434;1514;569	ENSP00000312379:T1514P;ENSP00000335599:T1472P;ENSP00000257745:T1514P;ENSP00000333986:T569P	ENSP00000257745:T1514P	T	+	1	0	MLL5	104539979	0.001000	0.12720	0.788000	0.31933	0.936000	0.57629	-0.537000	0.06128	-0.030000	0.13804	0.374000	0.22700	ACT		0.473	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1				28	57	0	0	0	0.00632	0	28	57		
FLNC	2318	broad.mit.edu	37	7	128484781	128484781	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr7:128484781A>T	ENST00000325888.8	+	21	3523	c.3262A>T	c.(3262-3264)Aag>Tag	p.K1088*	FLNC_ENST00000346177.6_Nonsense_Mutation_p.K1088*	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1088					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CATCGACACCAAGGGGGCTGG	0.632																																						uc003vnz.3		NaN																	0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(3262-3264)AAG>TAG		gamma filamin isoform a							50.0	57.0	55.0					7																	128484781		2003	4175	6178	SO:0001587	stop_gained	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128484781A>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.3262A>T	7.37:g.128484781A>T	ENSP00000327145:p.Lys1088*					FLNC_uc003voa.3_Nonsense_Mutation_p.K1088*	p.K1088*	NM_001458	NP_001449	Q14315	FLNC_HUMAN			21	3471	+			1088			Filamin 9.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Nonsense_Mutation	SNP	ENST00000325888.8	37	c.3262A>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	a	44	10.760633	0.99463	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7021	0.77549	1.0:0.0:0.0:0.0	.	.	.	.	X	1088	.	ENSP00000327145:K1088X	K	+	1	0	FLNC	128272017	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	5.149000	0.64863	2.111000	0.64477	0.449000	0.29647	AAG		0.632	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3				19	54	0	0	0	0.007413	0	19	54		
AHCYL2	23382	broad.mit.edu	37	7	129062699	129062699	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr7:129062699G>A	ENST00000325006.3	+	13	1534	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	AHCYL2_ENST00000474594.1_Missense_Mutation_p.E391K|AHCYL2_ENST00000531335.2_Missense_Mutation_p.E413K|AHCYL2_ENST00000490911.1_Missense_Mutation_p.E391K|AHCYL2_ENST00000446544.2_Missense_Mutation_p.E493K|AHCYL2_ENST00000446212.1_Missense_Mutation_p.E392K	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	494					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GCGGACACCAGAACTGACCTG	0.512																																					Pancreas(160;1736 1964 29875 40941 45605)	uc011kov.1		NaN																	0				ovary(2)	2						c.(1480-1482)GAA>AAA		S-adenosylhomocysteine hydrolase-like 2 isoform							182.0	157.0	166.0					7																	129062699		2203	4300	6503	SO:0001583	missense	23382				one-carbon metabolic process		adenosylhomocysteinase activity	g.chr7:129062699G>A	AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.1480G>A	7.37:g.129062699G>A	ENSP00000315931:p.Glu494Lys					AHCYL2_uc003vot.2_Missense_Mutation_p.E493K|AHCYL2_uc003vov.2_Missense_Mutation_p.E391K|AHCYL2_uc011kow.1_Missense_Mutation_p.E392K|AHCYL2_uc011kox.1_Missense_Mutation_p.E391K	p.E494K	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN			13	1534	+			494					B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	c.1480G>A	CCDS5812.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762183	0.69763	.	.	ENSG00000158467	ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911	T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.04;-1.04;-1.04;-1.04	5.37	5.37	0.77165	S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	0.000000	0.85682	D	0.000000	T	0.71762	0.3378	L	0.31371	0.925	0.58432	D	0.999996	P;P;P;P;P	0.47841	0.761;0.761;0.901;0.761;0.879	B;B;B;B;B	0.44108	0.281;0.281;0.441;0.281;0.313	T	0.72520	-0.4268	10	0.37606	T	0.19	-19.8145	17.6687	0.88210	0.0:0.0:1.0:0.0	.	391;392;494;391;493	B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2	.;.;SAHH3_HUMAN;.;.	K	494;493;413;391;392;391	ENSP00000315931:E494K;ENSP00000413639:E493K;ENSP00000431787:E413K;ENSP00000420459:E391K;ENSP00000405267:E392K;ENSP00000420801:E391K	ENSP00000315931:E494K	E	+	1	0	AHCYL2	128849935	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.809000	0.99208	2.510000	0.84645	0.561000	0.74099	GAA		0.512	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1				15	57	0	0	0	0.00499	0	15	57		
ZC3HC1	51530	broad.mit.edu	37	7	129663417	129663417	+	Silent	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr7:129663417G>C	ENST00000358303.4	-	8	1251	c.1167C>G	c.(1165-1167)ggC>ggG	p.G389G	RP11-306G20.1_ENST00000587038.1_RNA|ZC3HC1_ENST00000360708.5_Intron|RP11-306G20.1_ENST00000480018.1_RNA|ZC3HC1_ENST00000481503.1_Silent_p.G346G|ZC3HC1_ENST00000311873.5_Silent_p.G368G	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	389					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					GTACCTCCAGGCCAGGGGTGT	0.617																																					Melanoma(115;540 1606 16325 28853 48167)	uc003vpi.2		NaN																	0					0						c.(1165-1167)GGC>GGG		zinc finger, C3HC type 1							124.0	102.0	109.0					7																	129663417		2203	4300	6503	SO:0001819	synonymous_variant	51530				cell division|mitosis	nucleus	protein kinase binding|zinc ion binding	g.chr7:129663417G>C	AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"""Zinc fingers, C3HC-type"""	29913	protein-coding gene	gene with protein product	"""nuclear interaction partner of ALK"""					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.1167C>G	7.37:g.129663417G>C						ZC3HC1_uc003vph.2_Silent_p.G233G|ZC3HC1_uc010lma.2_Intron	p.G389G	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN			8	1194	-	Melanoma(18;0.0435)		389					A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Silent	SNP	ENST00000358303.4	37	c.1167C>G	CCDS34753.1																																																																																				0.617	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1		NM_016478		24	101	0	0	0	0.00278	0	24	101		
CSGALNACT1	55790	broad.mit.edu	37	8	19263328	19263328	+	Missense_Mutation	SNP	C	C	G	rs61910741	byFrequency	TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr8:19263328C>G	ENST00000454498.2	-	10	2575	c.1562G>C	c.(1561-1563)cGc>cCc	p.R521P	CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.R521P|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.R521P|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.R521P|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.R521P	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	521					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TTTCTGTTTGCGAAGGTGAGC	0.488													C|||	7	0.00139776	0.0	0.0014	5008	,	,		18438	0.0		0.006	False		,,,				2504	0.0					uc011kyn.1		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(1561-1563)CGC>CCC		chondroitin sulfate		C	PRO/ARG,PRO/ARG	7,4399	14.3+/-33.2	0,7,2196	112.0	108.0	109.0		1562,1562	5.9	1.0	8	dbSNP_129	109	49,8551	31.7+/-84.0	1,47,4252	yes	missense,missense	CSGALNACT1	NM_001130518.1,NM_018371.4	103,103	1,54,6448	GG,GC,CC		0.5698,0.1589,0.4306	probably-damaging,probably-damaging	521/533,521/533	19263328	56,12950	2203	4300	6503	SO:0001583	missense	55790				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	g.chr8:19263328C>G	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.1562G>C	8.37:g.19263328C>G	ENSP00000411816:p.Arg521Pro					CSGALNACT1_uc011kyo.1_Missense_Mutation_p.R521P|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.R520P	p.R521P	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	10	2626	-			521			Lumenal (Potential).		B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP	ENST00000454498.2	37	c.1562G>C	CCDS6010.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	C	25.2	4.614672	0.87359	0.001589	0.005698	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	5.91	5.91	0.95273	.	0.051149	0.85682	D	0.000000	T	0.40347	0.1113	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.26224	-1.0109	10	0.49607	T	0.09	-30.7891	13.157	0.59522	0.0:0.9232:0.0:0.0768	rs61910741	521	Q8TDX6	CGAT1_HUMAN	P	521	ENSP00000411816:R521P;ENSP00000330805:R521P;ENSP00000310891:R521P;ENSP00000429809:R521P;ENSP00000442155:R521P	ENSP00000310891:R521P	R	-	2	0	CSGALNACT1	19307608	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.642000	0.61383	2.802000	0.96397	0.655000	0.94253	CGC		0.488	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1		NM_018371		4	77	0	0	0	0.000602	0	4	77		
WRN	7486	broad.mit.edu	37	8	30998994	30998994	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr8:30998994A>C	ENST00000298139.5	+	25	3265	c.3016A>C	c.(3016-3018)Act>Cct	p.T1006P		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1006					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTTATTTGGCACTGGCAAGGA	0.383			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	uc003xio.3		NaN	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Mis|N|F|S	Werner syndrome (RECQL2)			"""L, E, M, O"""		osteosarcoma|meningioma|others			0				ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(3016-3018)ACT>CCT	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner syndrome protein							112.0	108.0	109.0					8																	30998994		2203	4300	6503	SO:0001583	missense	7486	Werner_syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30998994A>C		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.3016A>C	8.37:g.30998994A>C	ENSP00000298139:p.Thr1006Pro					WRN_uc010lvk.2_Missense_Mutation_p.T473P	p.T1006P	NM_000553	NP_000544	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	25	3804	+		Breast(100;0.195)	1006					A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.3016A>C	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.457512	0.26161	.	.	ENSG00000165392	ENST00000298139	T	0.43688	0.94	5.71	-1.02	0.10135	RQC domain (2);	1.102700	0.06818	N	0.791766	T	0.44664	0.1304	M	0.62723	1.935	0.09310	N	1	B;B	0.25563	0.075;0.129	B;B	0.39771	0.224;0.309	T	0.51733	-0.8668	10	0.24483	T	0.36	-2.3178	6.6726	0.23076	0.5081:0.0:0.3764:0.1155	.	416;1006	Q59F09;Q14191	.;WRN_HUMAN	P	1006	ENSP00000298139:T1006P	ENSP00000298139:T1006P	T	+	1	0	WRN	31118536	0.000000	0.05858	0.223000	0.23860	0.698000	0.40448	-0.079000	0.11357	-0.079000	0.12707	0.477000	0.44152	ACT		0.383	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1				19	42	0	0	0	0.010504	0	19	42		
KIAA1429	25962	broad.mit.edu	37	8	95523580	95523580	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr8:95523580C>T	ENST00000297591.5	-	13	3298	c.3223G>A	c.(3223-3225)Gtt>Att	p.V1075I	KIAA1429_ENST00000523405.1_5'UTR|KIAA1429_ENST00000421249.2_Missense_Mutation_p.V1075I|KIAA1429_ENST00000437199.1_Missense_Mutation_p.V1075I	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1075					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTTTCATTAACTCCTTGTGTA	0.363																																						uc003ygo.1		NaN																	0				ovary(1)|skin(1)	2						c.(3223-3225)GTT>ATT		hypothetical protein LOC25962 isoform 1							42.0	42.0	42.0					8																	95523580		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95523580C>T	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.3223G>A	8.37:g.95523580C>T	ENSP00000297591:p.Val1075Ile					KIAA1429_uc003ygp.2_Missense_Mutation_p.V1075I|KIAA1429_uc010maz.1_RNA	p.V1075I	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		13	3236	-	Breast(36;3.29e-05)		1075					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.3223G>A	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480176	0.63849	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.66638	-0.22;-0.22;0.77	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.73961	0.3654	L	0.27053	0.805	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.73380	0.98;0.98	T	0.75850	-0.3172	10	0.56958	D	0.05	-17.4806	19.5048	0.95111	0.0:1.0:0.0:0.0	.	1075;1075	Q69YN4-4;Q69YN4	.;VIR_HUMAN	I	1075	ENSP00000297591:V1075I;ENSP00000395600:V1075I;ENSP00000398390:V1075I	ENSP00000297591:V1075I	V	-	1	0	KIAA1429	95592756	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.678000	0.91216	0.650000	0.86243	GTT		0.363	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2		NM_015496		15	25	0	0	0	0.003163	0	15	25		
PTDSS1	9791	broad.mit.edu	37	8	97342490	97342490	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr8:97342490A>G	ENST00000517309.1	+	11	1549	c.1223A>G	c.(1222-1224)cAc>cGc	p.H408R	PTDSS1_ENST00000522072.1_Missense_Mutation_p.H205R|PTDSS1_ENST00000455950.2_Missense_Mutation_p.H262R	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	408					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TATGCAGAACACTATGGTCAC	0.463																																						uc003yht.1		NaN																	0				ovary(1)	1						c.(1222-1224)CAC>CGC		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						134.0	118.0	123.0					8																	97342490		2203	4300	6503	SO:0001583	missense	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97342490A>G	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.1223A>G	8.37:g.97342490A>G	ENSP00000430548:p.His408Arg					PTDSS1_uc003yhu.1_Missense_Mutation_p.H262R	p.H408R	NM_014754	NP_055569	P48651	PTSS1_HUMAN			11	1325	+	Breast(36;6.18e-05)		408					E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	c.1223A>G	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	A	12.89	2.072771	0.36566	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.42131	1.03;1.04;0.98	5.6	4.41	0.53225	.	0.274240	0.41500	D	0.000877	T	0.23766	0.0575	N	0.14661	0.345	0.30661	N	0.754345	B	0.02656	0.0	B	0.01281	0.0	T	0.16719	-1.0393	10	0.20046	T	0.44	-15.486	9.6708	0.40011	0.8447:0.0:0.0:0.1553	.	408	P48651	PTSS1_HUMAN	R	408;262;205	ENSP00000430548:H408R;ENSP00000401248:H262R;ENSP00000430928:H205R	ENSP00000401248:H262R	H	+	2	0	PTDSS1	97411666	1.000000	0.71417	0.978000	0.43139	0.857000	0.48899	3.627000	0.54252	0.912000	0.36772	0.459000	0.35465	CAC		0.463	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2				17	37	0	0	0	0.00499	0	17	37		
ZNF706	51123	broad.mit.edu	37	8	102213947	102213947	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr8:102213947A>T	ENST00000520347.1	-	2	2979	c.23T>A	c.(22-24)aTt>aAt	p.I8N	ZNF706_ENST00000521272.1_Missense_Mutation_p.I8N|ZNF706_ENST00000519744.1_Missense_Mutation_p.I8N|ZNF706_ENST00000520984.1_Missense_Mutation_p.I8N|ZNF706_ENST00000311212.4_Missense_Mutation_p.I8N|ZNF706_ENST00000518336.1_Missense_Mutation_p.I8N|ZNF706_ENST00000519882.1_Missense_Mutation_p.I8N|ZNF706_ENST00000517844.1_Missense_Mutation_p.I8N			Q9Y5V0	ZN706_HUMAN	zinc finger protein 706	8							metal ion binding (GO:0046872)			large_intestine(1)|ovary(2)	3	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			CTGAGACTGAATTTTCTGCTG	0.393																																						uc003yka.2		NaN																	0				ovary(2)	2						c.(22-24)ATT>AAT		HSPC038 protein							91.0	82.0	85.0					8																	102213947		2203	4300	6503	SO:0001583	missense	51123					intracellular	zinc ion binding	g.chr8:102213947A>T	AF125099	CCDS6291.1	8q22.3	2005-09-22				ENSG00000120963			24992	protein-coding gene	gene with protein product						11042152	Standard	NM_001042510		Approved	HSPC038	uc031tbv.1	Q9Y5V0		ENST00000520347.1:c.23T>A	8.37:g.102213947A>T	ENSP00000430823:p.Ile8Asn					ZNF706_uc003ykb.2_Missense_Mutation_p.I8N	p.I8N	NM_001042510	NP_001035975	Q9Y5V0	ZN706_HUMAN	Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)		3	438	-	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		8					A8K362	Missense_Mutation	SNP	ENST00000520347.1	37	c.23T>A	CCDS6291.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.895185	0.72639	.	.	ENSG00000120963	ENST00000520984;ENST00000311212;ENST00000519744;ENST00000517844;ENST00000520347;ENST00000519882;ENST00000521272;ENST00000518336;ENST00000523922;ENST00000520454	.	.	.	5.39	5.39	0.77823	.	0.098661	0.64402	D	0.000002	T	0.46927	0.1418	.	.	.	0.80722	D	1	P	0.45569	0.861	B	0.36567	0.228	T	0.55798	-0.8084	8	0.87932	D	0	-7.7891	15.4421	0.75190	1.0:0.0:0.0:0.0	.	8	Q9Y5V0	ZN706_HUMAN	N	8	.	ENSP00000311768:I8N	I	-	2	0	ZNF706	102283123	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.054000	0.61138	0.533000	0.62120	ATT		0.393	ZNF706-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380477.1		NM_016096		11	30	0	0	0	0.004007	0	11	30		
KHDRBS3	10656	broad.mit.edu	37	8	136619260	136619260	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr8:136619260C>A	ENST00000355849.5	+	7	1280	c.870C>A	c.(868-870)agC>agA	p.S290R	KHDRBS3_ENST00000520981.1_Missense_Mutation_p.S63R	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	290	Tyr-rich.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			ATGATAACAGCTATAGCACCC	0.403																																						uc003yuv.2		NaN																	0				ovary(2)	2						c.(868-870)AGC>AGA		KH domain containing, RNA binding, signal							200.0	187.0	191.0					8																	136619260		2203	4300	6503	SO:0001583	missense	10656				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr8:136619260C>A	AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.870C>A	8.37:g.136619260C>A	ENSP00000348108:p.Ser290Arg					KHDRBS3_uc003yuw.2_Intron|KHDRBS3_uc010mek.2_RNA	p.S290R	NM_006558	NP_006549	O75525	KHDR3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.247)		7	1264	+	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		290			Tyr-rich.		Q6NUL8|Q9UPA8	Missense_Mutation	SNP	ENST00000355849.5	37	c.870C>A	CCDS6374.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587896	0.66105	.	.	ENSG00000131773	ENST00000355849;ENST00000524199;ENST00000520981	T;T	0.45276	0.93;0.9	6.01	5.14	0.70334	.	0.370007	0.37136	N	0.002223	T	0.46946	0.1419	L	0.46157	1.445	0.50813	D	0.999899	D	0.59357	0.985	P	0.51742	0.678	T	0.34378	-0.9831	10	0.29301	T	0.29	-16.2674	14.5391	0.67980	0.0:0.9302:0.0:0.0698	.	290	O75525	KHDR3_HUMAN	R	290;262;63	ENSP00000348108:S290R;ENSP00000428607:S63R	ENSP00000348108:S290R	S	+	3	2	KHDRBS3	136688442	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.662000	0.54510	1.559000	0.49555	-0.157000	0.13467	AGC		0.403	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377529.1				32	89	1	0	2.28855e-06	0.004289	2.40121e-06	32	89		
SLC52A2	79581	broad.mit.edu	37	8	145583976	145583976	+	Missense_Mutation	SNP	G	G	A	rs144912258	byFrequency	TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr8:145583976G>A	ENST00000532887.1	+	3	1407	c.824G>A	c.(823-825)cGc>cAc	p.R275H	SLC52A2_ENST00000527078.1_Missense_Mutation_p.R275H|SLC52A2_ENST00000329994.2_Missense_Mutation_p.R275H|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Missense_Mutation_p.R275H|SLC52A2_ENST00000540505.1_Missense_Mutation_p.R187H|FBXL6_ENST00000455319.2_5'Flank|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000402965.1_Missense_Mutation_p.R275H			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	275					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	CTATCAGCCCGCAGTGCCTGC	0.632																																						uc003zcc.1		NaN																	0					0						c.(823-825)CGC>CAC		G protein-coupled receptor 172A precursor		G	HIS/ARG	9,4395	14.3+/-33.2	0,9,2193	64.0	55.0	58.0		824	-5.1	0.0	8	dbSNP_134	58	0,8596		0,0,4298	yes	missense	GPR172A	NM_024531.3	29	0,9,6491	AA,AG,GG		0.0,0.2044,0.0692	benign	275/446	145583976	9,12991	2202	4298	6500	SO:0001583	missense	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145583976G>A	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.824G>A	8.37:g.145583976G>A	ENSP00000436768:p.Arg275His					FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Missense_Mutation_p.R275H|GPR172A_uc003zce.1_Missense_Mutation_p.R275H|GPR172A_uc010mfy.1_Missense_Mutation_p.R275H|GPR172A_uc003zcf.1_Missense_Mutation_p.R275H|GPR172A_uc011llc.1_Missense_Mutation_p.R187H	p.R275H	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		3	981	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		275					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	c.824G>A	CCDS6423.1	.	.	.	.	.	.	.	.	.	.	G	0.631	-0.817240	0.02776	0.002044	0.0	ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000526338;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505	T;T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74	4.69	-5.05	0.02955	.	0.363317	0.27797	N	0.017812	T	0.59959	0.2232	L	0.42245	1.32	0.09310	N	1	B	0.17268	0.021	B	0.10450	0.005	T	0.32587	-0.9901	10	0.20046	T	0.44	.	13.8099	0.63256	0.5671:0.0:0.4329:0.0	.	275	Q9HAB3	RFT3_HUMAN	H	275;275;111;275;275;275;187	ENSP00000435820:R275H;ENSP00000434728:R275H;ENSP00000433583:R111H;ENSP00000385961:R275H;ENSP00000436768:R275H;ENSP00000333638:R275H;ENSP00000440400:R187H	ENSP00000333638:R275H	R	+	2	0	GPR172A	145554784	0.002000	0.14202	0.000000	0.03702	0.205000	0.24178	0.371000	0.20450	-1.975000	0.00997	-1.587000	0.00848	CGC		0.632	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1		NM_024531		29	60	0	0	0	0.010818	0	29	60		
NFIB	4781	broad.mit.edu	37	9	14146709	14146709	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:14146709T>C	ENST00000380959.3	-	6	1377	c.904A>G	c.(904-906)Aca>Gca	p.T302A	NFIB_ENST00000543693.1_Missense_Mutation_p.T50A|NFIB_ENST00000397579.2_Missense_Mutation_p.T302A|NFIB_ENST00000380934.4_Missense_Mutation_p.T328A|NFIB_ENST00000380924.1_Missense_Mutation_p.T50A|NFIB_ENST00000380953.1_Missense_Mutation_p.T302A|NFIB_ENST00000397581.2_Missense_Mutation_p.T302A|NFIB_ENST00000397575.3_Missense_Mutation_p.T302A	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	302					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		TCGTGCCATGTTCGACTTCCA	0.418			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	uc003zle.2		NaN		Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	MYB|HGMA2		adenoid cystic carcinoma|lipoma		0					0						c.(904-906)ACA>GCA		nuclear factor I/B							189.0	177.0	181.0					9																	14146709		2203	4300	6503	SO:0001583	missense	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14146709T>C	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.904A>G	9.37:g.14146709T>C	ENSP00000370346:p.Thr302Ala					NFIB_uc003zld.2_Missense_Mutation_p.T50A|NFIB_uc003zlf.2_Missense_Mutation_p.T302A|NFIB_uc011lmo.1_Missense_Mutation_p.T302A	p.T302A	NM_005596	NP_005587	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	6	1339	-			302					G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Missense_Mutation	SNP	ENST00000380959.3	37	c.904A>G	CCDS6474.1	.	.	.	.	.	.	.	.	.	.	T	12.26	1.883214	0.33255	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579;ENST00000543693;ENST00000380924	T;T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04	5.54	5.54	0.83059	.	0.050095	0.85682	D	0.000000	T	0.21468	0.0517	N	0.03608	-0.345	0.45676	D	0.998592	B;B;B;B	0.33000	0.393;0.001;0.258;0.0	B;B;B;B	0.33846	0.171;0.001;0.093;0.0	T	0.17077	-1.0381	10	0.24483	T	0.36	-6.3214	12.4874	0.55881	0.0:0.0:0.1393:0.8606	.	302;302;302;50	Q5VW27;Q5VW29;O00712;G3V1P1	.;.;NFIB_HUMAN;.	A	328;302;302;302;302;302;50;50	ENSP00000370321:T328A;ENSP00000370346:T302A;ENSP00000370340:T302A;ENSP00000380705:T302A;ENSP00000380711:T302A;ENSP00000380709:T302A;ENSP00000442888:T50A;ENSP00000370311:T50A	ENSP00000370311:T50A	T	-	1	0	NFIB	14136709	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.785000	0.55424	2.243000	0.73865	0.533000	0.62120	ACA		0.418	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1		NM_005596		32	76	0	0	0	0.003271	0	32	76		
FREM1	158326	broad.mit.edu	37	9	14819292	14819292	+	Missense_Mutation	SNP	C	C	G	rs373420008		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:14819292C>G	ENST00000380880.3	-	14	3269	c.2486G>C	c.(2485-2487)gGa>gCa	p.G829A	FREM1_ENST00000422223.2_Missense_Mutation_p.G829A|FREM1_ENST00000380881.4_Missense_Mutation_p.G830A			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	829					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TAGAGGAAATCCATTCAGCTC	0.428																																						uc003zlm.2		NaN																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(2485-2487)GGA>GCA		FRAS1 related extracellular matrix 1 precursor		C	ALA/GLY	0,3836		0,0,1918	113.0	108.0	110.0		2486	5.0	1.0	9		110	1,8251		0,1,4125	no	missense	FREM1	NM_144966.5	60	0,1,6043	GG,GC,CC		0.0121,0.0,0.0083	possibly-damaging	829/2180	14819292	1,12087	1918	4126	6044	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14819292C>G	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2486G>C	9.37:g.14819292C>G	ENSP00000370262:p.Gly829Ala					FREM1_uc010mic.2_RNA	p.G829A	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	14	3076	-			829			CSPG 5.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.2486G>C	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196365	0.58126	0.0	1.21E-4	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.58506	0.33;0.33;0.33	5.86	4.96	0.65561	.	0.259068	0.44097	D	0.000484	T	0.63390	0.2507	M	0.77486	2.375	0.44006	D	0.996718	P	0.51933	0.949	P	0.46885	0.53	T	0.67764	-0.5586	10	0.52906	T	0.07	-15.8492	12.6227	0.56612	0.0:0.8701:0.0:0.1299	.	829	Q5H8C1	FREM1_HUMAN	A	830;829;829	ENSP00000370263:G830A;ENSP00000412940:G829A;ENSP00000370262:G829A	ENSP00000370257:G832A	G	-	2	0	FREM1	14809292	0.231000	0.23751	1.000000	0.80357	0.538000	0.34931	1.941000	0.40233	2.771000	0.95319	0.563000	0.77884	GGA		0.428	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2		NM_144966		9	29	0	0	0	0.006214	0	9	29		
NOL6	65083	broad.mit.edu	37	9	33467712	33467712	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:33467712G>A	ENST00000379471.2	-	12	1666	c.1579C>T	c.(1579-1581)Cac>Tac	p.H527Y	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.H475Y			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	527					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GGTCGAGAGTGAGCCAGCAGG	0.622																																						uc003zsz.2		NaN																	0				ovary(2)	2						c.(1579-1581)CAC>TAC		nucleolar protein family 6 alpha isoform							28.0	30.0	29.0					9																	33467712		2203	4300	6503	SO:0001583	missense	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33467712G>A	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1579C>T	9.37:g.33467712G>A	ENSP00000368784:p.His527Tyr					SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Missense_Mutation_p.H527Y|NOL6_uc010mjv.2_Missense_Mutation_p.H524Y|NOL6_uc011lob.1_Missense_Mutation_p.H475Y|NOL6_uc003ztb.1_Missense_Mutation_p.H527Y	p.H527Y	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	12	1680	-			527					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37	c.1579C>T		.	.	.	.	.	.	.	.	.	.	G	17.21	3.330688	0.60853	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.22	5.22	0.72569	.	0.136304	0.64402	D	0.000002	T	0.54967	0.1891	L	0.46157	1.445	0.80722	D	1	D;D;D;B;D	0.71674	0.994;0.998;0.993;0.406;0.994	P;D;P;B;P	0.65010	0.903;0.931;0.843;0.139;0.903	T	0.42666	-0.9438	10	0.27082	T	0.32	.	16.7329	0.85440	0.0:0.0:1.0:0.0	.	475;524;527;527;527	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	Y	527;527;527;83;527;475	ENSP00000313978:H527Y;ENSP00000297990:H527Y;ENSP00000368784:H527Y;ENSP00000395915:H475Y	ENSP00000297990:H527Y	H	-	1	0	NOL6	33457712	1.000000	0.71417	1.000000	0.80357	0.366000	0.29705	6.955000	0.76007	2.720000	0.93068	0.655000	0.94253	CAC		0.622	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2		NM_022917		12	41	0	0	0	0.010729	0	12	41		
FAM219A	203259	broad.mit.edu	37	9	34401056	34401056	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:34401056T>C	ENST00000445726.1	-	6	770	c.464A>G	c.(463-465)gAc>gGc	p.D155G	FAM219A_ENST00000379087.1_Missense_Mutation_p.D136G|FAM219A_ENST00000379080.1_Missense_Mutation_p.D142G|FAM219A_ENST00000379089.1_Missense_Mutation_p.D153G|FAM219A_ENST00000379084.1_Missense_Mutation_p.D137G|FAM219A_ENST00000297620.4_Missense_Mutation_p.D138G|FAM219A_ENST00000379081.1_Missense_Mutation_p.D126G	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	F219A_HUMAN	family with sequence similarity 219, member A	155																	GTCCTCGTCGTCGGGGATCTC	0.617																																						uc011lok.1		NaN																	0					0						c.(463-465)GAC>GGC		hypothetical protein LOC203259							126.0	111.0	116.0					9																	34401056		2203	4300	6503	SO:0001583	missense	203259							g.chr9:34401056T>C	AK096350	CCDS6556.1, CCDS55304.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164970	ENSG00000164970			19920	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 25"""	C9orf25		9110174, 8619474	Standard	NM_147202		Approved	bA573M23.5, FLJ39031	uc011lok.2	Q8IW50	OTTHUMG00000019822	ENST00000445726.1:c.464A>G	9.37:g.34401056T>C	ENSP00000392452:p.Asp155Gly					C9orf25_uc003zuj.2_Missense_Mutation_p.D138G|C9orf25_uc003zuk.2_Missense_Mutation_p.D127G|C9orf25_uc011lol.1_Missense_Mutation_p.D143G|C9orf25_uc003zul.2_Missense_Mutation_p.D126G	p.D155G	NM_147202	NP_671735	Q8IW50	CI025_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.0858)	6	771	-	all_epithelial(49;0.244)		155					A2A364|B4DFE1|B4DSR8|Q5T590|Q5T591|Q5T592|Q5T594|Q5T595|Q8TAZ8	Missense_Mutation	SNP	ENST00000445726.1	37	c.464A>G	CCDS55304.1	.	.	.	.	.	.	.	.	.	.	T	31	5.068465	0.93950	.	.	ENSG00000164970	ENST00000379089;ENST00000379087;ENST00000379084;ENST00000379081;ENST00000379080;ENST00000445726;ENST00000297620;ENST00000422409	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.80497	0.4634	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.996;0.996	D;D;D;D;D	0.91635	0.999;0.995;0.998;0.993;0.987	D	0.83755	0.0211	9	0.87932	D	0	-2.7794	14.6858	0.69049	0.0:0.0:0.0:1.0	.	143;155;126;127;138	Q8IW50-4;Q8IW50;Q8IW50-3;Q8IW50-2;Q8IW50-6	.;CI025_HUMAN;.;.;.	G	153;136;137;126;142;155;138;154	.	ENSP00000297620:D138G	D	-	2	0	C9orf25	34391056	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.990000	0.88215	2.063000	0.61619	0.533000	0.62120	GAC		0.617	FAM219A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_001184940		13	73	0	0	0	0.001855	0	13	73		
KIAA1045	23349	broad.mit.edu	37	9	34971556	34971556	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:34971556C>T	ENST00000242315.3	+	2	343	c.261C>T	c.(259-261)ggC>ggT	p.G87G	KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Silent_p.G87G	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	87							metal ion binding (GO:0046872)	p.G87G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			ATGGGCGCGGCGTGGAGCCTG	0.617																																						uc003zvq.2		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	skin(1)	1						c.(259-261)GGC>GGT		hypothetical protein LOC23349							79.0	94.0	89.0					9																	34971556		2009	4164	6173	SO:0001819	synonymous_variant	23349						calcium ion binding	g.chr9:34971556C>T	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.261C>T	9.37:g.34971556C>T						KIAA1045_uc003zvr.2_Silent_p.G87G	p.G87G	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		2	439	+			87					B7Z253|Q58FE9|Q5T662	Silent	SNP	ENST00000242315.3	37	c.261C>T	CCDS43796.1																																																																																				0.617	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2		XM_048592		54	107	0	0	0	0.01441	0	54	107		
POLR1E	64425	broad.mit.edu	37	9	37486692	37486692	+	Silent	SNP	T	T	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:37486692T>G	ENST00000377792.3	+	1	543	c.255T>G	c.(253-255)acT>acG	p.T85T	POLR1E_ENST00000377798.4_Intron|POLR1E_ENST00000442009.2_Intron			O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	0					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		TGGGCTGCACTCTTACAGTCC	0.507																																					Ovarian(116;843 1620 18506 32459 34463)	uc003zzz.1		NaN																	0					0						c.(253-255)ACT>ACG		RNA polymerase I associated factor 53							147.0	128.0	135.0					9																	37486692		2203	4300	6503	SO:0001819	synonymous_variant	64425				rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr9:37486692T>G	AK091294	CCDS6611.1	9p13.1	2013-01-21	2006-03-09	2006-03-09	ENSG00000137054	ENSG00000137054		"""RNA polymerase subunits"""	17631	protein-coding gene	gene with protein product	"""RNA polymerase I associated factor 53"""		"""polymerase (RNA) I associated factor 1"""	PRAF1		8641287	Standard	XM_005251547		Approved	FLJ13390, PAF53, FLJ13970	uc003zzy.1	Q9GZS1	OTTHUMG00000019920	ENST00000377792.3:c.255T>G	9.37:g.37486692T>G						POLR1E_uc011lqj.1_Intron|POLR1E_uc003zzy.1_Intron|POLR1E_uc011lqk.1_Intron	p.T85T	NM_022490	NP_071935	Q9GZS1	RPA49_HUMAN		GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)	1	543	+			85					O75395|Q5JTE3	Silent	SNP	ENST00000377792.3	37	c.255T>G																																																																																					0.507	POLR1E-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052465.1		NM_022490		31	91	0	0	0	0.003755	0	31	91		
ANKRD20A4	728747	broad.mit.edu	37	9	69423627	69423627	+	Silent	SNP	T	T	C	rs111880971		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:69423627T>C	ENST00000357336.3	+	15	2204	c.1923T>C	c.(1921-1923)tcT>tcC	p.S641S		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	641										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						AAGATGTTTCTGTACAAGTAG	0.338																																						uc004afn.2		NaN																	0					0						c.(1921-1923)TCT>TCC		ankyrin repeat domain 20 family, member A4							18.0	27.0	24.0					9																	69423627		2121	4247	6368	SO:0001819	synonymous_variant	728747							g.chr9:69423627T>C		CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"""Ankyrin repeat domain containing"""	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.1923T>C	9.37:g.69423627T>C						uc010mnx.1_5'Flank	p.S641S	NM_001098805	NP_001092275	Q4UJ75	A20A4_HUMAN			15	2035	+			641			Potential.			Silent	SNP	ENST00000357336.3	37	c.1923T>C	CCDS43828.1																																																																																				0.338	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143287.3		NM_001098805		34	305	0	0	0	0.011902	0	34	305		
ZFAND5	7763	broad.mit.edu	37	9	74970975	74970975	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:74970975C>G	ENST00000237937.3	-	6	1093	c.536G>C	c.(535-537)cGt>cCt	p.R179P	ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000343431.2_Missense_Mutation_p.R179P|ZFAND5_ENST00000376960.4_Missense_Mutation_p.R179P|ZFAND5_ENST00000376962.5_Missense_Mutation_p.R179P	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	179					face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						GTCAGAGTAACGGTGAAGTCC	0.383																																						uc004aiv.2		NaN																	0					0						c.(535-537)CGT>CCT		zinc finger, AN1-type domain 5							97.0	94.0	95.0					9																	74970975		2203	4299	6502	SO:0001583	missense	7763						DNA binding|zinc ion binding	g.chr9:74970975C>G	AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372		"""Zinc fingers, AN1-type domain containing"""	13008	protein-coding gene	gene with protein product		604761	"""zinc finger protein 216"", ""zinc finger, A20 domain containing 2"""	ZNF216, ZA20D2		9758550	Standard	NM_001278243		Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.536G>C	9.37:g.74970975C>G	ENSP00000237937:p.Arg179Pro					ZFAND5_uc010mox.1_Missense_Mutation_p.R76P|ZFAND5_uc010moy.1_Missense_Mutation_p.R179P|ZFAND5_uc004aix.2_Missense_Mutation_p.R179P|ZFAND5_uc004aiw.2_Missense_Mutation_p.R179P|ZFAND5_uc004aiy.2_Missense_Mutation_p.R179P	p.R179P	NM_006007	NP_005998	O76080	ZFAN5_HUMAN			6	814	-			179			AN1-type.		A8K484	Missense_Mutation	SNP	ENST00000237937.3	37	c.536G>C	CCDS6642.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.815971	0.70912	.	.	ENSG00000107372	ENST00000237937;ENST00000376960;ENST00000376962;ENST00000343431	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.66	5.66	0.87406	Zinc finger, AN1-type (4);	0.000000	0.85682	D	0.000000	D	0.83788	0.5330	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87842	0.2652	10	0.87932	D	0	-8.5365	19.7415	0.96232	0.0:1.0:0.0:0.0	.	179	O76080	ZFAN5_HUMAN	P	179	ENSP00000237937:R179P;ENSP00000366159:R179P;ENSP00000366161:R179P;ENSP00000350586:R179P	ENSP00000237937:R179P	R	-	2	0	ZFAND5	74160795	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.668000	0.90789	0.561000	0.74099	CGT		0.383	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052644.1				23	51	0	0	0	0.00333	0	23	51		
PCSK5	5125	broad.mit.edu	37	9	78506171	78506171	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:78506171G>T	ENST00000545128.1	+	1	612	c.74G>T	c.(73-75)tGc>tTc	p.C25F	PCSK5_ENST00000376767.3_Missense_Mutation_p.C25F|PCSK5_ENST00000376752.4_Missense_Mutation_p.C25F	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	25					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTCGGGGGCTGCCTGCTCCCC	0.701																																						uc004ajz.2		NaN																	0				ovary(2)|skin(1)	3						c.(73-75)TGC>TTC		proprotein convertase subtilisin/kexin type 5							36.0	45.0	42.0					9																	78506171		2202	4298	6500	SO:0001583	missense	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78506171G>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.74G>T	9.37:g.78506171G>T	ENSP00000446280:p.Cys25Phe					PCSK5_uc004ajy.2_Missense_Mutation_p.C25F|PCSK5_uc004aka.2_RNA	p.C25F	NM_006200	NP_006191	Q92824	PCSK5_HUMAN			1	612	+			25					F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.74G>T	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902765	0.33628	.	.	ENSG00000099139	ENST00000545128;ENST00000376767;ENST00000396108;ENST00000376752	T;T;T	0.68479	0.84;-0.33;0.67	5.03	4.07	0.47477	.	.	.	.	.	T	0.40171	0.1106	N	0.01705	-0.755	0.34184	D	0.671272	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.50866	-0.8777	9	0.54805	T	0.06	.	11.3458	0.49559	0.0:0.0:0.6952:0.3048	.	25;25	Q92824-2;B1AMG5	.;.	F	25	ENSP00000446280:C25F;ENSP00000365958:C25F;ENSP00000365943:C25F	ENSP00000365943:C25F	C	+	2	0	PCSK5	77695991	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.314000	0.59166	2.326000	0.78906	0.561000	0.74099	TGC		0.701	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					24	57	1	0	2.98393e-07	0.00278	3.15022e-07	24	57		
GKAP1	80318	broad.mit.edu	37	9	86403527	86403527	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:86403527C>G	ENST00000376371.2	-	5	827	c.427G>C	c.(427-429)Gag>Cag	p.E143Q	GKAP1_ENST00000376365.3_Missense_Mutation_p.E143Q	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	143					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TTTTTGTGCTCTTCATATTCT	0.284																																						uc004amy.2		NaN																	0					0						c.(427-429)GAG>CAG		G kinase anchoring protein 1 isoform a							137.0	136.0	136.0					9																	86403527		2201	4299	6500	SO:0001583	missense	80318				signal transduction	Golgi apparatus		g.chr9:86403527C>G	BC014476	CCDS35049.1, CCDS47988.1	9q22.1	2008-02-05			ENSG00000165113	ENSG00000165113			17496	protein-coding gene	gene with protein product	"""cGMP-dependent protein kinase anchoring protein 42kDa"""	611356					Standard	NM_025211		Approved	GKAP42, FKSG21	uc004amy.3	Q5VSY0	OTTHUMG00000020106	ENST00000376371.2:c.427G>C	9.37:g.86403527C>G	ENSP00000365550:p.Glu143Gln					GKAP1_uc004amz.2_Missense_Mutation_p.E143Q|GKAP1_uc011lsu.1_RNA	p.E143Q	NM_025211	NP_079487	Q5VSY0	GKAP1_HUMAN			5	923	-			143			Potential.		Q96LI0|Q9BYI1|Q9BYI2|Q9H225	Missense_Mutation	SNP	ENST00000376371.2	37	c.427G>C	CCDS35049.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343199	0.61073	.	.	ENSG00000165113	ENST00000376371;ENST00000376365	.	.	.	5.42	5.42	0.78866	.	0.047528	0.85682	D	0.000000	T	0.64538	0.2607	L	0.46157	1.445	0.45690	D	0.998608	P;B	0.52316	0.952;0.259	P;B	0.52793	0.709;0.082	T	0.61613	-0.7027	9	0.38643	T	0.18	-25.5328	19.1566	0.93514	0.0:1.0:0.0:0.0	.	143;143	Q5VSY0-2;Q5VSY0	.;GKAP1_HUMAN	Q	143	.	ENSP00000365544:E143Q	E	-	1	0	GKAP1	85593347	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.691000	0.54720	2.700000	0.92200	0.585000	0.79938	GAG		0.284	GKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052839.2		NM_025211		30	73	0	0	0	0.009535	0	30	73		
NTRK2	4915	broad.mit.edu	37	9	87338533	87338533	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:87338533A>T	ENST00000323115.4	+	6	982	c.629A>T	c.(628-630)gAa>gTa	p.E210V	NTRK2_ENST00000277120.3_Missense_Mutation_p.E210V|NTRK2_ENST00000376208.1_Missense_Mutation_p.E210V|NTRK2_ENST00000376213.1_Missense_Mutation_p.E210V|NTRK2_ENST00000304053.6_Missense_Mutation_p.E210V|NTRK2_ENST00000395882.1_Missense_Mutation_p.E210V|NTRK2_ENST00000395866.2_Missense_Mutation_p.E54V|NTRK2_ENST00000359847.3_Missense_Mutation_p.E210V|NTRK2_ENST00000376214.1_Missense_Mutation_p.E210V			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	210	Ig-like C2-type 1.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	ACTGTGGAGGAAGGAAAGTCT	0.423										TSP Lung(25;0.17)																												uc004aoa.1		NaN																	0				lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						c.(628-630)GAA>GTA		neurotrophic tyrosine kinase, receptor, type 2							224.0	190.0	201.0					9																	87338533		2203	4300	6503	SO:0001583	missense	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87338533A>T	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.629A>T	9.37:g.87338533A>T	ENSP00000314586:p.Glu210Val	TSP Lung(25;0.17)				NTRK2_uc004anv.1_Missense_Mutation_p.E210V|NTRK2_uc004any.1_Missense_Mutation_p.E210V|NTRK2_uc004anz.1_Missense_Mutation_p.E210V|NTRK2_uc011lsz.1_Missense_Mutation_p.E210V|NTRK2_uc011lta.1_Missense_Mutation_p.E210V|NTRK2_uc004aob.1_Missense_Mutation_p.E210V|NTRK2_uc011ltb.1_Missense_Mutation_p.E54V	p.E210V	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN			9	1567	+			210			Extracellular (Potential).|Ig-like C2-type 1.		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	37	c.629A>T	CCDS35050.1	.	.	.	.	.	.	.	.	.	.	A	17.82	3.482560	0.63962	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.58	5.58	0.84498	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.59676	0.2211	L	0.55743	1.74	0.58432	D	0.999996	D;D;D;D;D;P;D;D	0.89917	1.0;0.995;0.995;0.998;0.992;0.944;1.0;0.998	D;D;D;D;D;P;D;D	0.91635	0.999;0.972;0.972;0.988;0.943;0.755;0.999;0.979	T	0.57917	-0.7728	10	0.41790	T	0.15	.	15.209	0.73202	1.0:0.0:0.0:0.0	.	54;210;210;210;210;210;256;210	B4DFV9;Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1;Q16620-2	.;.;.;.;NTRK2_HUMAN;.;.;.	V	210;210;210;210;210;210;210;210;54	ENSP00000365387:E210V;ENSP00000365386:E210V;ENSP00000379221:E210V;ENSP00000365381:E210V;ENSP00000306167:E210V;ENSP00000277120:E210V;ENSP00000314586:E210V;ENSP00000352906:E210V;ENSP00000379207:E54V	ENSP00000277120:E210V	E	+	2	0	NTRK2	86528353	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.430000	0.73391	2.237000	0.73441	0.482000	0.46254	GAA		0.423	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1				26	92	0	0	0	0.00333	0	26	92		
TTLL11	158135	broad.mit.edu	37	9	124751938	124751938	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:124751938G>A	ENST00000373776.3	-	4	1262	c.1075C>T	c.(1075-1077)Cgc>Tgc	p.R359C	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000321582.5_Missense_Mutation_p.R359C	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	359	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CCTGCCAGGCGGATGTCACTG	0.517																																						uc004blt.1		NaN																	0					0						c.(1075-1077)CGC>TGC		tubulin tyrosine ligase-like family, member 11							96.0	102.0	100.0					9																	124751938		2203	4300	6503	SO:0001583	missense	158135				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	g.chr9:124751938G>A	AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.1075C>T	9.37:g.124751938G>A	ENSP00000362881:p.Arg359Cys					TTLL11_uc011lyl.1_Missense_Mutation_p.R359C|TTLL11_uc004blr.2_RNA|TTLL11_uc011lym.1_Missense_Mutation_p.R36C|TTLL11_uc004blu.1_3'UTR	p.R359C	NM_194252	NP_919228	Q8NHH1	TTL11_HUMAN			4	1263	-			359			TTL.			Missense_Mutation	SNP	ENST00000373776.3	37	c.1075C>T	CCDS6834.2	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558567	0.65538	.	.	ENSG00000175764	ENST00000321582;ENST00000373776	T;T	0.05649	3.41;3.41	5.12	4.16	0.48862	.	0.073650	0.50627	D	0.000112	T	0.21186	0.0510	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.69479	0.95;0.964	T	0.00175	-1.1954	10	0.72032	D	0.01	.	10.7435	0.46166	0.0:0.0:0.6505:0.3495	.	359;359	F8W6M1;Q8NHH1	.;TTL11_HUMAN	C	359	ENSP00000321346:R359C;ENSP00000362881:R359C	ENSP00000321346:R359C	R	-	1	0	TTLL11	123791759	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.801000	0.47908	2.391000	0.81399	0.555000	0.69702	CGC		0.517	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1		XM_088486		50	110	0	0	0	0.01441	0	50	110		
OR1J2	26740	broad.mit.edu	37	9	125273238	125273238	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:125273238C>G	ENST00000335302.5	+	1	158	c.158C>G	c.(157-159)tCt>tGt	p.S53C		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	53						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(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CAGCTGGACTCTCACCTTCAC	0.557																																						uc004bmj.1		NaN																	0				skin(3)|pancreas(1)|breast(1)	5						c.(157-159)TCT>TGT		olfactory receptor, family 1, subfamily J,							281.0	217.0	239.0					9																	125273238		2203	4300	6503	SO:0001583	missense	26740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125273238C>G		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.158C>G	9.37:g.125273238C>G	ENSP00000335575:p.Ser53Cys					OR1J2_uc011lyv.1_Missense_Mutation_p.S53C	p.S53C	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN			4	1013	+			53			Cytoplasmic (Potential).		A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	ENST00000335302.5	37	c.158C>G	CCDS35121.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.352796	0.41700	.	.	ENSG00000197233	ENST00000335302;ENST00000444856	T	0.01106	5.33	5.02	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34223	U	0.004154	T	0.05456	0.0144	M	0.87827	2.91	0.09310	N	1	D	0.64830	0.994	P	0.59171	0.853	T	0.09773	-1.0659	10	0.87932	D	0	.	8.0742	0.30708	0.1582:0.7576:0.0:0.0843	.	53	Q8NGS2	OR1J2_HUMAN	C	53	ENSP00000335575:S53C	ENSP00000335575:S53C	S	+	2	0	OR1J2	124313059	0.000000	0.05858	0.875000	0.34327	0.654000	0.38779	-0.082000	0.11304	1.368000	0.46115	0.650000	0.86243	TCT		0.557	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1				64	141	0	0	0	0.01441	0	64	141		
RALGPS1	9649	broad.mit.edu	37	9	129957439	129957439	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:129957439G>A	ENST00000259351.5	+	12	1247	c.980G>A	c.(979-981)gGc>gAc	p.G327D	RALGPS1_ENST00000424082.2_Missense_Mutation_p.G327D|RALGPS1_ENST00000373434.1_Missense_Mutation_p.G327D	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	327					intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TCTGTTGCTGGCAGCCTCCCC	0.632																																						uc004bqo.1		NaN																	0				ovary(1)	1						c.(979-981)GGC>GAC		Ral GEF with PH domain and SH3 binding motif 1							86.0	74.0	78.0					9																	129957439		2203	4300	6503	SO:0001583	missense	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129957439G>A	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.980G>A	9.37:g.129957439G>A	ENSP00000259351:p.Gly327Asp					RALGPS1_uc011mac.1_Missense_Mutation_p.G327D|RALGPS1_uc004bqq.3_Missense_Mutation_p.G327D	p.G327D	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN			12	1247	+			327					B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	ENST00000259351.5	37	c.980G>A	CCDS35143.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642816	0.29246	.	.	ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000373434	T;T;T	0.28895	1.59;1.59;1.59	4.98	4.01	0.46588	.	0.362913	0.30329	N	0.009869	T	0.25044	0.0608	L	0.38175	1.15	0.33836	D	0.630823	B;B;B	0.22604	0.022;0.072;0.025	B;B;B	0.28011	0.028;0.085;0.015	T	0.25847	-1.0120	10	0.31617	T	0.26	.	11.6282	0.51158	0.0:0.3794:0.6206:0.0	.	327;327;327	E9PBQ5;Q5JS13-2;Q5JS13	.;.;RGPS1_HUMAN	D	327	ENSP00000259351:G327D;ENSP00000415630:G327D;ENSP00000362533:G327D	ENSP00000259351:G327D	G	+	2	0	RALGPS1	128997260	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	2.566000	0.45948	2.470000	0.83445	0.561000	0.74099	GGC		0.632	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1		NM_014636		27	83	0	0	0	0.005443	0	27	83		
TTF1	7270	broad.mit.edu	37	9	135275538	135275538	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:135275538C>G	ENST00000334270.2	-	3	1514	c.1475G>C	c.(1474-1476)gGt>gCt	p.G492A		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	492					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CACGGCAGAACCCAAATCCGC	0.468																																						uc004cbl.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(1474-1476)GGT>GCT		transcription termination factor, RNA polymerase							194.0	174.0	181.0					9																	135275538		2203	4300	6503	SO:0001583	missense	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135275538C>G	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1475G>C	9.37:g.135275538C>G	ENSP00000333920:p.Gly492Ala					TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_5'UTR	p.G492A	NM_007344	NP_031370	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	3	1527	-		Myeloproliferative disorder(178;0.204)	492					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	c.1475G>C	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	C	3.964	-0.009705	0.07727	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.10573	2.86	5.14	-0.402	0.12404	.	0.684939	0.12527	N	0.461177	T	0.06690	0.0171	L	0.36672	1.1	0.19300	N	0.999979	B	0.18310	0.027	B	0.14023	0.01	T	0.44636	-0.9315	10	0.14656	T	0.56	.	4.4943	0.11830	0.0:0.3764:0.1772:0.4464	.	492	Q15361	TTF1_HUMAN	A	492	ENSP00000333920:G492A	ENSP00000245588:G492A	G	-	2	0	TTF1	134265359	0.022000	0.18835	0.026000	0.17262	0.011000	0.07611	-0.037000	0.12164	-0.332000	0.08489	-0.253000	0.11424	GGT		0.468	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2		NM_007344		32	105	0	0	0	0.008361	0	32	105		
FCN1	2219	broad.mit.edu	37	9	137804955	137804955	+	Silent	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr9:137804955C>T	ENST00000371806.3	-	6	466	c.375G>A	c.(373-375)ggG>ggA	p.G125G		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	125	A domain; contributes to trimerization.|Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)	p.G125G(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TCAGGAAATACCCCCGGTCTA	0.677																																						uc004cfi.2		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	large_intestine(1)|ovary(1)	2						c.(373-375)GGG>GGA		ficolin 1 precursor							47.0	45.0	45.0					9																	137804955		2203	4300	6503	SO:0001819	synonymous_variant	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137804955C>T	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.375G>A	9.37:g.137804955C>T							p.G125G	NM_002003	NP_001994	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	6	467	-		Myeloproliferative disorder(178;0.0333)	125			Fibrinogen C-terminal.		Q5VYV5|Q92596	Silent	SNP	ENST00000371806.3	37	c.375G>A	CCDS6985.1																																																																																				0.677	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1		NM_002003		10	12	0	0	0	0.006214	0	10	12		
MXRA5	25878	broad.mit.edu	37	X	3241401	3241401	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:3241401G>C	ENST00000217939.6	-	5	2479	c.2325C>G	c.(2323-2325)aaC>aaG	p.N775K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	775						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TAATCTGTTTGTTTGCCATGT	0.443																																						uc004crg.3		NaN																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(2323-2325)AAC>AAG		adlican precursor							118.0	107.0	111.0					X																	3241401		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3241401G>C	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2325C>G	X.37:g.3241401G>C	ENSP00000217939:p.Asn775Lys						p.N775K	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	2482	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	775					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.2325C>G	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	3.185	-0.167102	0.06461	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.62498	0.02	3.63	1.74	0.24563	.	0.681931	0.12588	N	0.455860	T	0.37652	0.1011	N	0.08118	0	0.09310	N	0.999999	B	0.09022	0.002	B	0.12156	0.007	T	0.20571	-1.0271	10	0.30078	T	0.28	.	6.9838	0.24718	0.0948:0.3305:0.5747:0.0	.	775	Q9NR99	MXRA5_HUMAN	K	775	ENSP00000217939:N775K	ENSP00000217939:N775K	N	-	3	2	MXRA5	3251401	1.000000	0.71417	0.006000	0.13384	0.737000	0.42083	0.916000	0.28651	-0.003000	0.14444	0.529000	0.55759	AAC		0.443	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2		NM_015419		46	30	0	0	0	0.01441	0	46	30		
KLHL15	80311	broad.mit.edu	37	X	24024257	24024257	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:24024257T>C	ENST00000328046.8	-	3	809	c.554A>G	c.(553-555)gAt>gGt	p.D185G		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	185	BACK.				protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						ATGATCATTATCCAAGTAAGA	0.478																																						uc004dba.3		NaN																	0				ovary(1)|breast(1)	2						c.(553-555)GAT>GGT		kelch-like 15							148.0	125.0	133.0					X																	24024257		2203	4300	6503	SO:0001583	missense	80311							g.chrX:24024257T>C	AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.554A>G	X.37:g.24024257T>C	ENSP00000332791:p.Asp185Gly						p.D185G	NM_030624	NP_085127	Q96M94	KLH15_HUMAN			3	810	-			185			BACK.		Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Missense_Mutation	SNP	ENST00000328046.8	37	c.554A>G	CCDS35217.1	.	.	.	.	.	.	.	.	.	.	T	9.324	1.058906	0.19987	.	.	ENSG00000174010	ENST00000328046	T	0.68331	-0.32	5.52	5.52	0.82312	BTB/Kelch-associated (2);	0.092218	0.85682	D	0.000000	T	0.56077	0.1961	N	0.19112	0.55	0.46654	D	0.999146	B	0.20164	0.042	B	0.29077	0.098	T	0.55062	-0.8199	10	0.54805	T	0.06	.	14.6658	0.68907	0.0:0.0:0.0:1.0	.	185	Q96M94	KLH15_HUMAN	G	185	ENSP00000332791:D185G	ENSP00000332791:D185G	D	-	2	0	KLHL15	23934178	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	4.776000	0.62354	1.845000	0.53610	0.441000	0.28932	GAT		0.478	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1		XM_040383		5	96	0	0	0	0.001168	0	5	96		
KIAA2022	340533	broad.mit.edu	37	X	73961258	73961258	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:73961258G>C	ENST00000055682.6	-	3	3745	c.3134C>G	c.(3133-3135)cCa>cGa	p.P1045R		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1045					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTCCTTTAGTGGTGCTATCTC	0.502																																						uc004eby.2		NaN																	0				ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(3133-3135)CCA>CGA		hypothetical protein LOC340533							82.0	76.0	78.0					X																	73961258		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73961258G>C		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3134C>G	X.37:g.73961258G>C	ENSP00000055682:p.Pro1045Arg						p.P1045R	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	3751	-			1045					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.3134C>G	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.875335	0.72180	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.61274	0.12;0.12	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.72755	0.3500	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75328	-0.3356	10	0.87932	D	0	-9.3137	18.4091	0.90545	0.0:0.0:1.0:0.0	.	1045	Q5QGS0	K2022_HUMAN	R	1045	ENSP00000362567:P1045R;ENSP00000055682:P1045R	ENSP00000055682:P1045R	P	-	2	0	KIAA2022	73877983	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.476000	0.97823	2.287000	0.76781	0.600000	0.82982	CCA		0.502	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2		NM_001008537		38	21	0	0	0	0.004289	0	38	21		
MAGEE1	57692	broad.mit.edu	37	X	75649899	75649899	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:75649899C>T	ENST00000361470.2	+	1	1854	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	526	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TAAAGAATATCGCAACCAGTT	0.478																																						uc004ecm.1		NaN																	0				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						c.(1576-1578)CGC>TGC		melanoma antigen family E, 1							48.0	47.0	47.0					X																	75649899		2203	4300	6503	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75649899C>T	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1576C>T	X.37:g.75649899C>T	ENSP00000354912:p.Arg526Cys						p.R526C	NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN			1	1783	+			526			MAGE 1.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.1576C>T	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	C	4.660	0.122664	0.08931	.	.	ENSG00000198934	ENST00000361470	T	0.05513	3.43	2.13	1.23	0.21249	.	.	.	.	.	T	0.17450	0.0419	M	0.62088	1.915	0.09310	N	0.999998	D	0.89917	1.0	D	0.79784	0.993	T	0.07158	-1.0787	9	0.87932	D	0	.	5.9393	0.19184	0.0:0.6752:0.3248:0.0	.	526	Q9HCI5	MAGE1_HUMAN	C	526	ENSP00000354912:R526C	ENSP00000354912:R526C	R	+	1	0	MAGEE1	75566303	0.084000	0.21492	0.079000	0.20413	0.002000	0.02628	0.013000	0.13310	0.313000	0.23062	-0.225000	0.12378	CGC		0.478	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1		NM_020932		22	5	0	0	0	0.00278	0	22	5		
TMEM164	84187	broad.mit.edu	37	X	109416577	109416577	+	Silent	SNP	C	C	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:109416577C>A	ENST00000372073.1	+	7	1128	c.792C>A	c.(790-792)acC>acA	p.T264T	TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000372068.2_Silent_p.T264T|TMEM164_ENST00000288381.4_Silent_p.T225T|TMEM164_ENST00000372072.3_Silent_p.T115T			Q5U3C3	TM164_HUMAN	transmembrane protein 164	264						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						CTCTCATGACCATGACCCACG	0.532																																						uc004eom.2		NaN																	0				large_intestine(1)|lung(1)|skin(1)	3						c.(790-792)ACC>ACA		transmembrane protein 164 isoform b							106.0	91.0	96.0					X																	109416577		2203	4300	6503	SO:0001819	synonymous_variant	84187					integral to membrane		g.chrX:109416577C>A	AK094127	CCDS14550.2, CCDS55475.1	Xq22.3	2008-02-05			ENSG00000157600	ENSG00000157600			26217	protein-coding gene	gene with protein product						12477932	Standard	NM_032227		Approved	FLJ22679, RP13-360B22.2	uc004eom.3	Q5U3C3	OTTHUMG00000022192	ENST00000372073.1:c.792C>A	X.37:g.109416577C>A						TMEM164_uc004eol.2_Silent_p.T115T|TMEM164_uc010npq.2_Silent_p.T225T|TMEM164_uc004eon.1_5'Flank	p.T264T	NM_032227	NP_115603	Q5U3C3	TM164_HUMAN			7	1111	+			264			Helical; (Potential).		B3KSQ8|F5H2P2	Silent	SNP	ENST00000372073.1	37	c.792C>A	CCDS14550.2																																																																																				0.532	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057898.1		NM_032227		44	29	1	0	6.68952e-21	0.013114	7.5534e-21	44	29		
XIAP	331	broad.mit.edu	37	X	123040977	123040977	+	Silent	SNP	G	G	A	rs61757634		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:123040977G>A	ENST00000371199.3	+	7	1739	c.1440G>A	c.(1438-1440)aaG>aaA	p.K480K	XIAP_ENST00000468691.1_3'UTR|XIAP_ENST00000434753.3_Silent_p.K480K|XIAP_ENST00000355640.3_Silent_p.K480K	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	480					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						CAGTTGACAAGTGTCCCATGT	0.343									X-linked Lymphoproliferative syndrome																													uc010nqu.2		NaN																	0				ovary(1)|lung(1)	2						c.(1438-1440)AAG>AAA		baculoviral IAP repeat-containing protein 4							107.0	91.0	97.0					X																	123040977		2203	4300	6503	SO:0001819	synonymous_variant	331	X-linked_Lymphoproliferative_syndrome	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding	g.chrX:123040977G>A	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"""Baculoviral IAP repeat containing"""	592	protein-coding gene	gene with protein product		300079	"""baculoviral IAP repeat-containing 4"""	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.1440G>A	X.37:g.123040977G>A						XIAP_uc004etx.2_Silent_p.K480K|XIAP_uc010nqv.2_Silent_p.K106K	p.K480K	NM_001167	NP_001158	P98170	XIAP_HUMAN			7	1566	+			480			RING-type.		D3DTF2|Q9NQ14	Silent	SNP	ENST00000371199.3	37	c.1440G>A	CCDS14606.1																																																																																				0.343	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058165.5		NM_001167		41	22	0	0	0	0.00623	0	41	22		
MAGEC2	51438	broad.mit.edu	37	X	141290659	141290659	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:141290659G>A	ENST00000247452.3	-	3	1462	c.1115C>T	c.(1114-1116)tCt>tTt	p.S372F		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	372	Interaction with TRIM28.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTCACTCAGAAAAGGAGAC	0.512										HNSCC(46;0.14)																												uc004fbu.1		NaN																	0				breast(2)	2						c.(1114-1116)TCT>TTT		melanoma antigen family C, 2							112.0	93.0	100.0					X																	141290659		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141290659G>A	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.1115C>T	X.37:g.141290659G>A	ENSP00000354660:p.Ser372Phe	HNSCC(46;0.14)					p.S372F	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			3	1463	-	Acute lymphoblastic leukemia(192;6.56e-05)		372					Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.1115C>T	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	5.186	0.219796	0.09863	.	.	ENSG00000046774	ENST00000247452	T	0.02421	4.3	1.2	-1.2	0.09554	.	.	.	.	.	T	0.02012	0.0063	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.45789	-0.9237	9	0.87932	D	0	.	2.503	0.04638	0.2476:0.3144:0.438:0.0	.	372	Q9UBF1	MAGC2_HUMAN	F	372	ENSP00000354660:S372F	ENSP00000354660:S372F	S	-	2	0	MAGEC2	141118325	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.502000	0.22594	-0.510000	0.06523	-0.481000	0.04817	TCT		0.512	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1		NM_016249		40	22	0	0	0	0.007835	0	40	22		
SLITRK4	139065	broad.mit.edu	37	X	142718330	142718330	+	Silent	SNP	G	G	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:142718330G>A	ENST00000381779.4	-	2	820	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L	SLITRK4_ENST00000338017.4_Silent_p.L199L|SLITRK4_ENST00000356928.1_Silent_p.L199L	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	199						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTGTTCCAGAACCCCGATA	0.443																																						uc004fbx.2		NaN																	0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(595-597)CTG>TTG		slit and trk like 4 protein precursor							81.0	78.0	79.0					X																	142718330		2203	4300	6503	SO:0001819	synonymous_variant	139065					integral to membrane		g.chrX:142718330G>A	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.595C>T	X.37:g.142718330G>A						SLITRK4_uc004fby.2_Silent_p.L199L	p.L199L	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	971	-	Acute lymphoblastic leukemia(192;6.56e-05)		199			Extracellular (Potential).|LRR 6.		Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	c.595C>T	CCDS14679.1																																																																																				0.443	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1		NM_173078		48	35	0	0	0	0.01441	0	48	35		
MARK2	2011	broad.mit.edu	37	11	63663087	63663089	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr11:63663087_63663089delCTC	ENST00000509502.2	+	3	634_636	c.171_173delCTC	c.(169-174)aactcc>aac	p.S60del	MARK2_ENST00000377810.3_In_Frame_Del_p.S60del|MARK2_ENST00000402010.2_In_Frame_Del_p.S93del|MARK2_ENST00000377809.4_In_Frame_Del_p.S93del|MARK2_ENST00000315032.8_In_Frame_Del_p.S93del|MARK2_ENST00000508192.1_In_Frame_Del_p.S93del|MARK2_ENST00000350490.7_In_Frame_Del_p.S93del|MARK2_ENST00000502399.3_In_Frame_Del_p.S93del|MARK2_ENST00000513765.2_In_Frame_Del_p.S60del|MARK2_ENST00000413835.2_In_Frame_Del_p.S93del|MARK2_ENST00000361128.5_In_Frame_Del_p.S93del|MARK2_ENST00000408948.3_In_Frame_Del_p.S60del|MARK2_ENST00000425897.2_In_Frame_Del_p.S60del	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2									p.N57K(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CTCAACTGAACTCCTCCAGCCTC	0.443																																						uc001nxw.2		NaN																	2	Substitution - Missense(2)	p.N57K(1)	lung(2)	stomach(1)|ovary(1)|lung(1)	3						c.(268-273)AACTCC>AAC		MAP/microtubule affinity-regulating kinase 2																																				SO:0001651	inframe_deletion	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63663087_63663089delCTC	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.171_173delCTC	11.37:g.63663090_63663092delCTC	ENSP00000423974:p.Ser60del					MARK2_uc001nxx.2_In_Frame_Del_p.S93del|MARK2_uc001nxy.2_In_Frame_Del_p.S93del|MARK2_uc001nxv.3_In_Frame_Del_p.S93del|MARK2_uc001nxz.3_In_Frame_Del_p.S60del|MARK2_uc009yoy.2_In_Frame_Del_p.S60del	p.S93del	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN			3	849_851	+			93			Protein kinase.			In_Frame_Del	DEL	ENST00000509502.2	37	c.270_272delCTC	CCDS41665.1																																																																																				0.443	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2		NM_017490		29	173	NaN	NaN	NaN	NaN	NaN	29	173	---	---
KIAA1551	55196	broad.mit.edu	37	12	32138036	32138037	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:32138036_32138037insTA	ENST00000312561.4	+	4	4561_4562	c.4147_4148insTA	c.(4147-4149)ttafs	p.L1383fs	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1383																	AGGGAACGTATTAGATATGGAA	0.347																																						uc001rks.2		NaN																	0				ovary(1)|skin(1)	2						c.(4147-4149)TTAfs		hypothetical protein LOC55196																																				SO:0001589	frameshift_variant	55196							g.chr12:32138036_32138037insTA	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.4148_4149dupTA	12.37:g.32138037_32138038dupTA	ENSP00000310338:p.Leu1383fs					C12orf35_uc001rkt.2_5'Flank	p.L1383fs	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	4561_4562	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		1383					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Frame_Shift_Ins	INS	ENST00000312561.4	37	c.4147_4148insTA	CCDS8725.2																																																																																				0.347	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2		NM_018169		11	66	NaN	NaN	NaN	NaN	NaN	11	66	---	---
KMT2D	8085	broad.mit.edu	37	12	49424468	49424475	+	Frame_Shift_Del	DEL	GACTGGGC	GACTGGGC	-			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08			GACTGGGC	-	GACTGGGC	GACTGGGC		Valid	Somatic	Phase_I	WXS	Fluidigm_realigned			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr12:49424468_49424475delGACTGGGC	ENST00000301067.7	-	41	13747_13754	c.13748_13755delGCCCAGTC	c.(13747-13755)tgcccagtcfs	p.CPV4583fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4583					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCTGCCCATTGACTGGGCAGCCACTGCC	0.577																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(13747-13755)TGCCCAGTCfs		myeloid/lymphoid or mixed-lineage leukemia 2																																				SO:0001589	frameshift_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49424468_49424475delGACTGGGC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.13748_13755delGCCCAGTC	12.37:g.49424468_49424475delGACTGGGC	ENSP00000301067:p.Cys4583fs	HNSCC(34;0.089)					p.C4583fs	NM_003482	NP_003473	O14686	MLL2_HUMAN			41	13748_13755	-			4583_4585					O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.13748_13755delGCCCAGTC	CCDS44873.1																																																																																				0.577	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				10	29	NaN	NaN	NaN	NaN	NaN	10	29	---	---
RB1	5925	broad.mit.edu	37	13	49039151	49039160	+	Frame_Shift_Del	DEL	GATCAAAGAA	GATCAAAGAA	-	rs3092905	byFrequency	TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08			GATCAAAGAA	-	GATCAAAGAA	GATCAAAGAA		Valid	Somatic	Phase_I	WXS	Fluidigm_realigned			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr13:49039151_49039160delGATCAAAGAA	ENST00000267163.4	+	22	2367_2376	c.2229_2238delGATCAAAGAA	c.(2227-2238)ttgatcaaagaafs	p.LIKE743fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	743	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(12)|p.K745I(1)|p.L743fs*1(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AACGTGTTTTGATCAAAGAAGAGGAGTATG	0.286		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		29	Whole gene deletion(15)|Unknown(12)|Substitution - Missense(1)|Deletion - Frameshift(1)	p.?(8)	bone(11)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|kidney(1)|endometrium(1)|urinary_tract(1)|lung(1)|pancreas(1)|liver(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	GRCh37	CD030614|CM040265	RB1	D|M	rs3092905	c.(2227-2238)TTGATCAAAGAAfs		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49039151_49039160delGATCAAAGAA	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2229_2238delGATCAAAGAA	13.37:g.49039151_49039160delGATCAAAGAA	ENSP00000267163:p.Leu743fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.L743fs	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	22	2395_2404	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	743_746			Pocket; binds T and E1A.|Domain B.		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	c.2229_2238delGATCAAAGAA	CCDS31973.1																																																																																				0.286	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1				7	39	NaN	NaN	NaN	NaN	NaN	7	39	---	---
FOXA1	3169	broad.mit.edu	37	14	38061854	38061862	+	In_Frame_Del	DEL	GTTCATGGA	GTTCATGGA	-	rs201660304	byFrequency	TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08			GTTCATGGA	-	GTTCATGGA	GTTCATGGA		Valid	Somatic	Phase_I	WXS	Fluidigm_realigned			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr14:38061854_38061862delGTTCATGGA	ENST00000250448.2	-	2	188_196	c.127_135delTCCATGAAC	c.(127-135)tccatgaacdel	p.SMN43del	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.SMN10del	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	43					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TCATGTAGGTGTTCATGGAGTTCATGGAG	0.608																																						uc001wuf.2		NaN																	0					0						c.(127-135)TCCATGAACdel		forkhead box A1																																				SO:0001651	inframe_deletion	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061854_38061862delGTTCATGGA	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.127_135delTCCATGAAC	14.37:g.38061863_38061871delGTTCATGGA	ENSP00000250448:p.Ser43_Asn45del					FOXA1_uc010tpz.1_In_Frame_Del_p.SMN10del	p.SMN43del	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	439_447	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		43_45					B2R9H6|B7ZAP5|Q9H2A0	In_Frame_Del	DEL	ENST00000250448.2	37	c.127_135delTCCATGAAC	CCDS9665.1																																																																																				0.608	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1				21	89	NaN	NaN	NaN	NaN	NaN	21	89	---	---
CORO1A	11151	broad.mit.edu	37	16	30198259	30198260	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr16:30198259_30198260insT	ENST00000219150.5	+	4	749_750	c.444_445insT	c.(445-447)agtfs	p.S149fs	RP11-455F5.5_ENST00000566144.1_RNA|CORO1A_ENST00000570045.1_Frame_Shift_Ins_p.S149fs|CORO1A_ENST00000565497.1_Frame_Shift_Ins_p.S149fs|RP11-455F5.5_ENST00000567153.1_RNA|RP11-455F5.5_ENST00000568506.1_RNA	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	149					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						ACGTGCTGCTCAGTGCAGGTGC	0.673																																						uc002dww.2		NaN																	0					0						c.(442-447)CTCAGTfs		coronin, actin binding protein, 1A																																				SO:0001589	frameshift_variant	11151				cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity	g.chr16:30198259_30198260insT	X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"""Coronins"", ""WD repeat domain containing"""	2252	protein-coding gene	gene with protein product	"""Clabp TACO"""	605000	"""coronin, actin-binding protein, 1A"""			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	Exception_encountered	16.37:g.30198259_30198260insT	ENSP00000219150:p.Ser149fs					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010vej.1_Frame_Shift_Ins_p.L148fs|CORO1A_uc010bzq.2_Frame_Shift_Ins_p.L148fs|CORO1A_uc010bzr.2_Frame_Shift_Ins_p.L148fs|CORO1A_uc002dwx.2_Frame_Shift_Ins_p.L42fs|CORO1A_uc002dwy.1_5'UTR|LOC606724_uc002dwz.1_5'Flank	p.L148fs	NM_007074	NP_009005	P31146	COR1A_HUMAN			4	566_567	+			148_149			WD 3.		B2RBL1|Q2YD73	Frame_Shift_Ins	INS	ENST00000219150.5	37	c.444_445insT	CCDS10673.1																																																																																				0.673	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255195.2		NM_007074		11	42	NaN	NaN	NaN	NaN	NaN	11	42	---	---
ZNF750	79755	broad.mit.edu	37	17	80789041	80789042	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr17:80789041_80789042insA	ENST00000269394.3	-	2	2122_2123	c.1289_1290insT	c.(1288-1290)ctgfs	p.L430fs	TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Frame_Shift_Ins_p.L31fs|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	430					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGAGGTCGTACAGGCCTTCGCA	0.624																																						uc002kga.2		NaN																	0				central_nervous_system(1)	1						c.(1288-1290)CTGfs		zinc finger protein 750																																				SO:0001589	frameshift_variant	79755					intracellular	zinc ion binding	g.chr17:80789041_80789042insA	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1290dupT	17.37:g.80789042_80789042dupA	ENSP00000269394:p.Leu430fs					TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	p.L430fs	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	1600_1601	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	430					Q9H899	Frame_Shift_Ins	INS	ENST00000269394.3	37	c.1289_1290insT	CCDS11819.1																																																																																				0.624	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2		NM_024702		24	86	NaN	NaN	NaN	NaN	NaN	24	86	---	---
EPB41L3	23136	broad.mit.edu	37	18	5406924	5406928	+	Frame_Shift_Del	DEL	TTGGT	TTGGT	-			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr18:5406924_5406928delTTGGT	ENST00000341928.2	-	16	2537_2541	c.2197_2201delACCAA	c.(2197-2202)accaacfs	p.TN733fs	EPB41L3_ENST00000544123.1_Frame_Shift_Del_p.TN564fs|EPB41L3_ENST00000342933.3_Frame_Shift_Del_p.TN733fs|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Frame_Shift_Del_p.TN5fs|EPB41L3_ENST00000540638.2_Frame_Shift_Del_p.TN552fs|EPB41L3_ENST00000427684.2_Frame_Shift_Del_p.TN5fs|EPB41L3_ENST00000400111.3_Frame_Shift_Del_p.TN552fs	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	733	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTCGCTAATGTTGGTTTGATGTTTC	0.429																																						uc002kmt.1		NaN																	0				ovary(5)	5						c.(2197-2202)ACCAACfs		erythrocyte membrane protein band 4.1-like 3																																				SO:0001589	frameshift_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5406924_5406928delTTGGT	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2197_2201delACCAA	18.37:g.5406924_5406928delTTGGT	ENSP00000343158:p.Thr733fs					EPB41L3_uc010wzh.1_Frame_Shift_Del_p.T564fs|EPB41L3_uc002kmu.1_Frame_Shift_Del_p.T552fs|EPB41L3_uc010dkq.1_Frame_Shift_Del_p.T443fs|EPB41L3_uc002kms.1_Frame_Shift_Del_p.T5fs|EPB41L3_uc010wze.1_Frame_Shift_Del_p.T5fs|EPB41L3_uc010wzf.1_Frame_Shift_Del_p.T5fs|EPB41L3_uc010wzg.1_Frame_Shift_Del_p.T5fs|EPB41L3_uc010dkr.2_Frame_Shift_Del_p.T125fs	p.T733fs	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			16	2283_2287	-			733_734			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Frame_Shift_Del	DEL	ENST00000341928.2	37	c.2197_2201delACCAA	CCDS11838.1																																																																																				0.429	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1		NM_012307		31	100	NaN	NaN	NaN	NaN	NaN	31	100	---	---
MTHFD2	10797	broad.mit.edu	37	2	74432891	74432897	+	Frame_Shift_Del	DEL	GGCAGGA	GGCAGGA	-	rs188979675|rs6758485|rs6758486		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr2:74432891_74432897delGGCAGGA	ENST00000394053.2	+	2	241_247	c.161_167delGGCAGGA	c.(160-168)cggcaggagfs	p.RQE54fs	MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000409804.1_Frame_Shift_Del_p.RQE54fs|MTHFD2_ENST00000264090.4_Intron|MTHFD2_ENST00000409601.1_Frame_Shift_Del_p.RQE54fs|MTHFD2_ENST00000394050.3_Intron	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	54					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	CAGGAAGTGCGGCAGGAGGTAGAAGAG	0.498																																						uc002skk.2		NaN																	0					0						c.(160-168)CGGCAGGAGfs		methylenetetrahydrofolate dehydrogenase 2	NADH(DB00157)|Tetrahydrofolic acid(DB00116)																																			SO:0001589	frameshift_variant	10797				folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding	g.chr2:74432891_74432897delGGCAGGA	X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.161_167delGGCAGGA	2.37:g.74432891_74432897delGGCAGGA	ENSP00000377617:p.Arg54fs					MTHFD2_uc002skj.2_5'UTR|MTHFD2_uc010yro.1_Intron|MTHFD2_uc010ffb.2_Frame_Shift_Del_p.R54fs|MTHFD2_uc010yrp.1_Intron	p.R54fs	NM_006636	NP_006627	P13995	MTDC_HUMAN			2	240_246	+			54_56					Q53G90|Q53GV5|Q53S36|Q7Z650	Frame_Shift_Del	DEL	ENST00000394053.2	37	c.161_167delGGCAGGA	CCDS1935.2																																																																																				0.498	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252045.2				30	42	NaN	NaN	NaN	NaN	NaN	30	42	---	---
EIF4A2	1974	broad.mit.edu	37	3	186503971	186503974	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chr3:186503971_186503974delTGTT	ENST00000323963.5	+	6	600_603	c.536_539delTGTT	c.(535-540)atgtttfs	p.MF179fs	SNORA63_ENST00000363548.1_RNA|SNORD2_ENST00000459163.1_RNA|SNORA81_ENST00000408493.2_RNA|SNORA4_ENST00000584302.1_RNA|EIF4A2_ENST00000440191.2_Frame_Shift_Del_p.MF180fs|RP11-573D15.9_ENST00000577781.1_RNA|SNORA63_ENST00000363450.1_RNA|EIF4A2_ENST00000356531.5_Frame_Shift_Del_p.MF84fs			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	179	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)		TGGATCAAAATGTTTGTTTTGGAT	0.319			T	BCL6	NHL																																	uc003fqs.2		NaN		Dom	yes		3	3q27.3	1974	T	"""eukaryotic translation initiation factor 4A, isoform 2"""			L	BCL6		NHL		0				ovary(2)|breast(2)	4						c.(535-540)ATGTTTfs		eukaryotic translation initiation factor 4A2																																				SO:0001589	frameshift_variant	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.chr3:186503971_186503974delTGTT	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.536_539delTGTT	3.37:g.186503975_186503978delTGTT	ENSP00000326381:p.Met179fs					EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Frame_Shift_Del_p.M180fs|EIF4A2_uc003fqv.2_Frame_Shift_Del_p.M84fs|EIF4A2_uc003fqw.2_Frame_Shift_Del_p.M84fs|EIF4A2_uc011bsb.1_Frame_Shift_Del_p.M52fs|MIR1248_hsa-mir-1248|MI0006383_5'Flank|SNORA81_uc010hyv.1_5'Flank|SNORA63_uc010hyw.1_5'Flank|SNORA4_uc010hyx.1_5'Flank	p.M179fs	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)	6	575_578	+	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		179_180			Helicase ATP-binding.		D3DNU9|Q53XJ6|Q96B90|Q96EA8	Frame_Shift_Del	DEL	ENST00000323963.5	37	c.536_539delTGTT	CCDS3282.1																																																																																				0.319	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1		NM_001967		40	46	NaN	NaN	NaN	NaN	NaN	40	46	---	---
TSPYL2	64061	broad.mit.edu	37	X	53111922	53111923	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:53111922_53111923insG	ENST00000375442.4	+	1	374_375	c.242_243insG	c.(241-246)gaggggfs	p.EG81fs		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	81					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						ATTCTCGAGGAGGGGGGGATCC	0.693																																						uc004drw.2		NaN																	0					0						c.(241-243)GAGfs		TSPY-like 2																																				SO:0001589	frameshift_variant	64061				cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding	g.chrX:53111922_53111923insG	AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.249dupG	X.37:g.53111929_53111929dupG	ENSP00000364591:p.Glu81fs					TSPYL2_uc004drv.2_Frame_Shift_Ins_p.E81fs|TSPYL2_uc004drx.1_5'Flank	p.E81fs	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN			1	374_375	+			81					O94799|Q96DG7|Q9BZW6	Frame_Shift_Ins	INS	ENST00000375442.4	37	c.242_243insG	CCDS14350.1																																																																																				0.693	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056718.1		NM_022117		5	4	NaN	NaN	NaN	NaN	NaN	5	4	---	---
MED12	9968	broad.mit.edu	37	X	70339253	70339258	+	In_Frame_Del	DEL	GGTTTC	GGTTTC	-	rs199469672|rs199469676|rs199469692|rs199469688|rs199469689|rs199469693|rs199469669|rs199469677|rs199469678|rs199469680|rs199469681|rs199469691|rs199469690|rs199469684|rs199469685|rs199469686|rs199469687		TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:70339253_70339258delGGTTTC	ENST00000374080.3	+	2	162_167	c.130_135delGGTTTC	c.(130-135)ggtttcdel	p.GF44del	MED12_ENST00000333646.6_In_Frame_Del_p.GF44del|MED12_ENST00000374102.1_In_Frame_Del_p.GF44del			Q93074	MED12_HUMAN	mediator complex subunit 12	44					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.G44D(105)|p.G44S(37)|p.G44R(34)|p.G44V(28)|p.G44C(21)|p.G44A(17)|p.?(6)|p.K42_N46del(3)|p.L39_N47del(2)|p.F45_A50del(2)|p.V41_P49del(2)|p.K42_F45del(2)|p.E35_N46del(2)|p.Q43_N46>H(1)|p.V41_D54del(1)|p.A38_N46del(1)|p.V41_S52del(1)|p.L39_V51del(1)|p.N40_P49>F(1)|p.F45_Q48del(1)|p.K42_V51del(1)|p.Q43_Q48del(1)|p.A38_S52del(1)|p.N40_G44del(1)|p.V41_N46del(1)|p.K42_G44>N(1)|p.Q43_G44>H(1)|p.G44_Q48del(1)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGTAAAACAAGGTTTCAATAACCAGC	0.519			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.2		NaN		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					276	Substitution - Missense(242)|Deletion - In frame(24)|Unknown(6)|Complex - deletion inframe(4)		soft_tissue(271)|breast(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(130-135)GGTTTCdel		mediator complex subunit 12																																				SO:0001651	inframe_deletion	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70339253_70339258delGGTTTC	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.130_135delGGTTTC	X.37:g.70339253_70339258delGGTTTC	ENSP00000363193:p.Gly44_Phe45del					MED12_uc011mpq.1_In_Frame_Del_p.GF44del|MED12_uc004dyz.2_In_Frame_Del_p.GF44del|MED12_uc004dza.2_5'Flank	p.GF44del	NM_005120	NP_005111	Q93074	MED12_HUMAN			2	329_334	+	Renal(35;0.156)		44_45					O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL	ENST00000374080.3	37	c.130_135delGGTTTC	CCDS43970.1																																																																																				0.519	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1		NM_005120		5	3	NaN	NaN	NaN	NaN	NaN	5	3	---	---
STAG2	10735	broad.mit.edu	37	X	123179177	123179178	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-FD-A3SL-01A-21D-A22Z-08	TCGA-FD-A3SL-10A-01D-A22Z-08			AC	-	AC	AC		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	90e57a6b-edfb-4aed-b5e0-4e607daec98a	97cfcabd-db3e-4e43-b83b-89994611ceb3	g.chrX:123179177_123179178delAC	ENST00000371160.1	+	8	916_917	c.626_627delAC	c.(625-627)gacfs	p.D209fs	STAG2_ENST00000218089.9_Frame_Shift_Del_p.D209fs|STAG2_ENST00000371157.3_Frame_Shift_Del_p.D209fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Frame_Shift_Del_p.D209fs|STAG2_ENST00000354548.5_Frame_Shift_Del_p.D140fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.D209fs	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	209					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GGATTGTCTGACTCACAAGTCA	0.361																																						uc004etz.3		NaN																	0				ovary(4)|skin(1)	5						c.(625-627)GACfs		stromal antigen 2 isoform b																																				SO:0001589	frameshift_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123179177_123179178delAC	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.626_627delAC	X.37:g.123179177_123179178delAC	ENSP00000360202:p.Asp209fs					STAG2_uc004eua.2_Frame_Shift_Del_p.D209fs|STAG2_uc004eub.2_Frame_Shift_Del_p.D209fs|STAG2_uc004euc.2_Frame_Shift_Del_p.D209fs|STAG2_uc004eud.2_Frame_Shift_Del_p.D209fs|STAG2_uc004eue.2_Frame_Shift_Del_p.D209fs	p.D209fs	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			7	965_966	+			209					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Frame_Shift_Del	DEL	ENST00000371160.1	37	c.626_627delAC	CCDS14607.1																																																																																				0.361	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2		NM_006603		111	65	NaN	NaN	NaN	NaN	NaN	111	65	---	---
