#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
VWA1	64856	broad.mit.edu	37	1	1372365	1372365	+	Silent	SNP	C	C	T	rs370040804		TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:1372365C>T	ENST00000476993.1	+	2	210	c.132C>T	c.(130-132)agC>agT	p.S44S	VWA1_ENST00000338660.5_Intron|RP4-758J18.10_ENST00000417917.1_lincRNA|VWA1_ENST00000404702.3_Intron	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	44	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				behavioral response to pain (GO:0048266)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interstitial matrix (GO:0005614)				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCTCAGCCAGCGTCTCTCACT	0.672																																						uc001afs.2		NaN																	0					0						c.(130-132)AGC>AGT		von Willebrand factor A domain containing 1			,	1,4403		0,1,2201	59.0	66.0	63.0		132,	-1.5	1.0	1		63	0,8590		0,0,4295	no	coding-synonymous,intron	VWA1	NM_022834.4,NM_199121.2	,	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	,	44/446,	1372365	1,12993	2202	4295	6497	SO:0001819	synonymous_variant	64856					basement membrane		g.chr1:1372365C>T	BC059409	CCDS27.1, CCDS28.1, CCDS28.2	1p36.33	2013-02-11			ENSG00000179403	ENSG00000179403		"""Fibronectin type III domain containing"""	30910	protein-coding gene	gene with protein product		611901				14527666, 12062410	Standard	NM_022834		Approved	FLJ22215, VWA-1, WARP	uc001afs.3	Q6PCB0	OTTHUMG00000002975	ENST00000476993.1:c.132C>T	1.37:g.1372365C>T						VWA1_uc001afr.2_Intron	p.S44S	NM_022834	NP_073745	Q6PCB0	VWA1_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	2	352	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	44			VWFA.		A8K692|B3KUA1|E9PB53|Q7L5D7|Q9H6J5	Silent	SNP	ENST00000476993.1	37	c.132C>T	CCDS27.1																																																																																				0.672	VWA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008291.1		NM_022834		43	42	0	0	0	0.279185	0	43	42		
VPS13D	55187	broad.mit.edu	37	1	12336628	12336628	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:12336628G>T	ENST00000358136.3	+	19	3113	c.2983G>T	c.(2983-2985)Gaa>Taa	p.E995*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.E995*	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTATGATGCTGAAGTCTCCCT	0.453											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001atv.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(2983-2985)GAA>TAA		vacuolar protein sorting 13D isoform 1							149.0	136.0	141.0					1																	12336628		2203	4300	6503	SO:0001587	stop_gained	55187				protein localization			g.chr1:12336628G>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.2983G>T	1.37:g.12336628G>T	ENSP00000350854:p.Glu995*		OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	679	VPS13D_uc001atw.2_Nonsense_Mutation_p.E995*|VPS13D_uc001atx.2_Nonsense_Mutation_p.E183*	p.E995*	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	19	3124	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	995						Nonsense_Mutation	SNP	ENST00000358136.3	37	c.2983G>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	43	9.869931	0.99284	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	.	.	.	6.17	6.17	0.99709	.	0.105878	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	995	.	ENSP00000348666:E995X	E	+	1	0	VPS13D	12259215	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.611000	0.82962	2.941000	0.99782	0.655000	0.94253	GAA		0.453	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		NM_015378		107	69	1	0	2.20344e-50	0.139131	2.47488e-50	107	69		
PRAMEF2	65122	broad.mit.edu	37	1	12918913	12918913	+	Silent	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:12918913C>T	ENST00000240189.2	+	2	136	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	17					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGCAGAGCCTGCTGAGAGA	0.562																																						uc001aum.1		NaN																	0					0						c.(49-51)CTG>TTG		PRAME family member 2							84.0	96.0	92.0					1																	12918913		2201	4297	6498	SO:0001819	synonymous_variant	65122							g.chr1:12918913C>T		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.49C>T	1.37:g.12918913C>T							p.L17L	NM_023014	NP_075390	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	136	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	17						Silent	SNP	ENST00000240189.2	37	c.49C>T	CCDS149.1																																																																																				0.562	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1		NM_023014		106	77	0	0	0	0.139131	0	106	77		
ZMYM4	9202	broad.mit.edu	37	1	35853067	35853067	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:35853067C>T	ENST00000314607.6	+	13	2205	c.2125C>T	c.(2125-2127)Cag>Tag	p.Q709*	ZMYM4_ENST00000373297.2_Nonsense_Mutation_p.Q620*	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	709					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAAAATGTTTCAGTTCTGTGG	0.294																																						uc001byt.2		NaN																	0				large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5						c.(2125-2127)CAG>TAG		zinc finger protein 262							52.0	57.0	55.0					1																	35853067		2203	4299	6502	SO:0001587	stop_gained	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35853067C>T	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.2125C>T	1.37:g.35853067C>T	ENSP00000322915:p.Gln709*					ZMYM4_uc009vuu.2_Nonsense_Mutation_p.Q677*|ZMYM4_uc001byu.2_Nonsense_Mutation_p.Q385*|ZMYM4_uc009vuv.2_Nonsense_Mutation_p.Q448*	p.Q709*	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN			13	2205	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	709			MYM-type 7.		A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Nonsense_Mutation	SNP	ENST00000314607.6	37	c.2125C>T	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.486095|4.486095	0.84854|0.84854	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000314607;ENST00000373297|ENST00000457946	.|.	.|.	.|.	5.36|5.36	4.44|4.44	0.53790|0.53790	.|.	0.282172|.	0.36338|.	N|.	0.002648|.	.|T	.|0.50000	.|0.1590	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.58752	.|-0.7581	.|3	0.29301|.	T|.	0.29|.	-6.4786|-6.4786	8.4006|8.4006	0.32583|0.32583	0.0:0.7612:0.1569:0.0819|0.0:0.7612:0.1569:0.0819	.|.	.|.	.|.	.|.	X|L	709;620|368	.|.	ENSP00000322915:Q709X|.	Q|S	+|+	1|2	0|0	ZMYM4|ZMYM4	35625654|35625654	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	1.202000|1.202000	0.32271|0.32271	2.498000|2.498000	0.84270|0.84270	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.294	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3		NM_005095		34	70	0	0	0	0.183431	0	34	70		
PGM1	5236	broad.mit.edu	37	1	64114205	64114205	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:64114205G>A	ENST00000371084.3	+	8	1375	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	PGM1_ENST00000540265.1_Missense_Mutation_p.E191K|PGM1_ENST00000371083.4_Missense_Mutation_p.E406K	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	388			E -> K (in CDG1T). {ECO:0000269|PubMed:24499211}.		carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CCACATCCGTGAGAAAGATGG	0.522																																						uc001dbh.2		NaN																	0				ovary(2)|kidney(1)	3						c.(1162-1164)GAG>AAG		phosphoglucomutase 1							76.0	63.0	68.0					1																	64114205		2203	4300	6503	SO:0001583	missense	5236				cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity	g.chr1:64114205G>A	BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.1162G>A	1.37:g.64114205G>A	ENSP00000360125:p.Glu388Lys					PGM1_uc010ooy.1_Missense_Mutation_p.E191K|PGM1_uc010ooz.1_Missense_Mutation_p.E406K	p.E388K	NM_002633	NP_002624	P36871	PGM1_HUMAN			8	1375	+			388					B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Missense_Mutation	SNP	ENST00000371084.3	37	c.1162G>A	CCDS625.1	.	.	.	.	.	.	.	.	.	.	G	35	5.524405	0.96431	.	.	ENSG00000079739	ENST00000538673;ENST00000371084;ENST00000540265;ENST00000371083	T;T;T	0.66099	-0.19;-0.19;-0.19	6.06	6.06	0.98353	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.000000	0.85682	D	0.000000	D	0.87653	0.6231	H	0.98295	4.195	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91292	0.5060	10	0.87932	D	0	-16.3922	20.6208	0.99490	0.0:0.0:1.0:0.0	.	406;388	P36871-2;P36871	.;PGM1_HUMAN	K	364;388;191;406	ENSP00000360125:E388K;ENSP00000443449:E191K;ENSP00000360124:E406K	ENSP00000360124:E406K	E	+	1	0	PGM1	63886793	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	9.824000	0.99380	2.882000	0.98803	0.655000	0.94253	GAG		0.522	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024868.1		NM_002633		10	24	0	0	0	0.069234	0	10	24		
IL23R	149233	broad.mit.edu	37	1	67672625	67672625	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:67672625G>A	ENST00000347310.5	+	6	856	c.685G>A	c.(685-687)Gag>Aag	p.E229K	C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Missense_Mutation_p.E229K|IL23R_ENST00000395227.1_5'Flank	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	229	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TTCCAGGGCTGAGACTATAAA	0.373																																						uc001ddo.2		NaN																	0					0						c.(685-687)GAG>AAG		interleukin 23 receptor precursor							69.0	63.0	65.0					1																	67672625		2203	4300	6503	SO:0001583	missense	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67672625G>A	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.685G>A	1.37:g.67672625G>A	ENSP00000321345:p.Glu229Lys					IL23R_uc009waz.2_Missense_Mutation_p.E26K|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_5'UTR|IL23R_uc010opk.1_Missense_Mutation_p.E186K|IL23R_uc010opl.1_Intron|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_5'UTR|IL23R_uc010opn.1_Missense_Mutation_p.E74K|IL23R_uc001ddr.2_RNA|IL23R_uc010opo.1_Missense_Mutation_p.E88K|IL23R_uc010opp.1_Intron|IL23R_uc010opq.1_Missense_Mutation_p.E88K|IL23R_uc010opr.1_RNA|IL23R_uc010ops.1_Missense_Mutation_p.E26K|IL23R_uc010opt.1_5'UTR|IL23R_uc010opu.1_Intron|IL23R_uc010opv.1_Intron|IL23R_uc010opw.1_5'UTR|IL23R_uc010opx.1_Intron|IL23R_uc010opy.1_Missense_Mutation_p.E26K|IL23R_uc010opz.1_Intron|IL23R_uc010oqa.1_Intron|IL23R_uc010oqb.1_Missense_Mutation_p.E88K|IL23R_uc010oqc.1_5'UTR|IL23R_uc010oqd.1_Intron|IL23R_uc010oqe.1_5'UTR|IL23R_uc010oqf.1_5'UTR|IL23R_uc010oqg.1_5'UTR|IL23R_uc010oqh.1_Intron|IL23R_uc001dds.2_5'Flank|IL23R_uc001ddt.2_5'Flank	p.E229K	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN			6	770	+			229			Extracellular (Potential).|Fibronectin type-III 2.		C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Missense_Mutation	SNP	ENST00000347310.5	37	c.685G>A	CCDS637.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404629	0.25378	.	.	ENSG00000162594	ENST00000347310;ENST00000431791;ENST00000540911;ENST00000371002;ENST00000543799	T;T	0.07800	3.16;3.16	5.98	5.07	0.68467	Fibronectin, type III (2);	0.369893	0.30979	N	0.008499	T	0.02455	0.0075	N	0.24115	0.695	0.80722	D	1	B;P;B;B;B;B;B	0.41041	0.02;0.736;0.054;0.02;0.102;0.046;0.197	B;B;B;B;B;B;B	0.38500	0.018;0.275;0.043;0.027;0.054;0.027;0.136	T	0.56025	-0.8047	10	0.26408	T	0.33	-13.1197	11.2094	0.48788	0.084:0.0:0.916:0.0	.	83;83;88;83;136;229;229	B6HY71;B6HY89;E9PG12;B6HY79;B6VNT7;Q5VWK5-3;Q5VWK5	.;.;.;.;.;.;IL23R_HUMAN	K	229;88;88;229;184	ENSP00000321345:E229K;ENSP00000360041:E229K	ENSP00000321345:E229K	E	+	1	0	IL23R	67445213	1.000000	0.71417	0.956000	0.39512	0.219000	0.24729	3.475000	0.53136	1.547000	0.49401	0.655000	0.94253	GAG		0.373	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2		NM_144701		18	8	0	0	0	0.160694	0	18	8		
FPGT	8790	broad.mit.edu	37	1	74670283	74670283	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:74670283C>A	ENST00000609362.1	+	4	589	c.552C>A	c.(550-552)gaC>gaA	p.D184E	FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.D197E|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000534056.1_Intron|FPGT_ENST00000370894.5_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	184					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TTAGGTTTGACAAACCTGGCT	0.348																																						uc001dgb.1		NaN																	0				skin(1)	1						c.(550-552)GAC>GAA		fucose-1-phosphate guanyltransferase							112.0	110.0	111.0					1																	74670283		2203	4300	6503	SO:0001583	missense	8790				fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding	g.chr1:74670283C>A	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.552C>A	1.37:g.74670283C>A	ENSP00000476680:p.Asp184Glu					TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron	p.D184E	NM_003838	NP_003829	O14772	FPGT_HUMAN			4	589	+			184					A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	ENST00000609362.1	37	c.552C>A	CCDS663.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.859246	0.32884	.	.	ENSG00000254685	ENST00000370898	T	0.37411	1.2	5.57	2.31	0.28768	L-fucokinase (1);	.	.	.	.	T	0.10895	0.0266	L	0.35793	1.09	0.80722	D	1	B	0.21225	0.053	B	0.29663	0.105	T	0.14309	-1.0477	8	.	.	.	.	2.1139	0.03709	0.2416:0.3963:0.0:0.3621	.	184	O14772	FPGT_HUMAN	E	184	ENSP00000359935:D184E	.	D	+	3	2	TNNI3K	74442871	0.988000	0.35896	1.000000	0.80357	0.965000	0.64279	0.208000	0.17415	1.351000	0.45789	0.591000	0.81541	GAC		0.348	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					8	59	1	0	1.06961e-07	0.27861	1.11268e-07	8	59		
RPAP2	79871	broad.mit.edu	37	1	92789860	92789860	+	Silent	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:92789860G>C	ENST00000610020.1	+	8	1492	c.1383G>C	c.(1381-1383)ctG>ctC	p.L461L		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	461					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AGTTAAATCTGAGGATCAGGG	0.403																																						uc001dot.2		NaN																	0				ovary(1)	1						c.(1381-1383)CTG>CTC		RNA polymerase II associated protein 2							56.0	60.0	59.0					1																	92789860		2187	4299	6486	SO:0001819	synonymous_variant	79871					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr1:92789860G>C	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1383G>C	1.37:g.92789860G>C						RPAP2_uc009wdh.2_RNA	p.L461L	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)	8	1492	+		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)	461					C9JKB5|Q49AS7|Q9H8Y2	Silent	SNP	ENST00000610020.1	37	c.1383G>C	CCDS740.1																																																																																				0.403	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2		NM_024813		20	58	0	0	0	0.189662	0	20	58		
CRTC2	200186	broad.mit.edu	37	1	153930832	153930832	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:153930832C>A	ENST00000368633.1	-	1	269	c.142G>T	c.(142-144)Ggc>Tgc	p.G48C	CRTC2_ENST00000476883.1_5'Flank|CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	48					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGGGTGGAGCCGATGTCCATC	0.687																																						uc010ped.1		NaN																	0				ovary(2)	2						c.(142-144)GGC>TGC		CREB regulated transcription coactivator 2							17.0	18.0	18.0					1																	153930832		2198	4300	6498	SO:0001583	missense	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153930832C>A	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.142G>T	1.37:g.153930832C>A	ENSP00000357622:p.Gly48Cys						p.G48C	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		1	212	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		48					Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	ENST00000368633.1	37	c.142G>T	CCDS30875.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381816	0.82792	.	.	ENSG00000160741	ENST00000368633	T	0.11821	2.74	5.45	3.54	0.40534	Transducer of regulated CREB activity, N-terminal (1);	0.380247	0.27659	N	0.018390	T	0.07324	0.0185	N	0.08118	0	0.35139	D	0.768698	D	0.89917	1.0	D	0.79108	0.992	T	0.20042	-1.0287	10	0.54805	T	0.06	-10.8535	5.6738	0.17737	0.0:0.6691:0.1617:0.1692	.	48	Q53ET0	CRTC2_HUMAN	C	48	ENSP00000357622:G48C	ENSP00000305873:G48C	G	-	1	0	CRTC2	152197456	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.764000	0.38471	0.828000	0.34709	0.591000	0.81541	GGC		0.687	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3		NM_181715		14	20	1	0	4.7546e-09	0.146539	5.0477e-09	14	20		
NUF2	83540	broad.mit.edu	37	1	163317648	163317648	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:163317648G>A	ENST00000271452.3	+	12	1323	c.1044G>A	c.(1042-1044)aaG>aaA	p.K348K	NUF2_ENST00000367900.3_Silent_p.K348K|NUF2_ENST00000524800.1_Silent_p.K301K	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	348	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TGATTGTGAAGAAGGAAAAAC	0.353																																						uc001gcq.1		NaN																	0				ovary(3)|skin(1)	4						c.(1042-1044)AAG>AAA		NUF2, NDC80 kinetochore complex component							87.0	86.0	86.0					1																	163317648		2203	4300	6503	SO:0001819	synonymous_variant	83540				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr1:163317648G>A	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.1044G>A	1.37:g.163317648G>A						NUF2_uc001gcr.1_Silent_p.K348K|NUF2_uc009wvc.1_Silent_p.K301K	p.K348K	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN			12	1344	+	all_hematologic(923;0.101)		348			Interaction with the N-terminus of NDC80.		Q8WU69|Q96HJ4|Q96Q78	Silent	SNP	ENST00000271452.3	37	c.1044G>A	CCDS1245.1																																																																																				0.353	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1		NM_145697		9	45	0	0	0	0.058154	0	9	45		
POU2F1	5451	broad.mit.edu	37	1	167365587	167365587	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:167365587G>A	ENST00000541643.3	+	11	1145	c.983G>A	c.(982-984)cGa>cAa	p.R328Q	POU2F1_ENST00000367862.5_Missense_Mutation_p.R340Q|POU2F1_ENST00000420254.3_Missense_Mutation_p.R328Q|POU2F1_ENST00000429375.2_Missense_Mutation_p.R288Q|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Missense_Mutation_p.R351Q			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	328	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				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						ACCATCTCTCGATTTGAAGCC	0.428																																						uc001gec.2		NaN																	0				central_nervous_system(2)|skin(2)|breast(1)	5						c.(982-984)CGA>CAA		POU class 2 homeobox 1							199.0	181.0	187.0					1																	167365587		2203	4300	6503	SO:0001583	missense	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.chr1:167365587G>A	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.983G>A	1.37:g.167365587G>A	ENSP00000441285:p.Arg328Gln					POU2F1_uc010plg.1_RNA|POU2F1_uc001ged.2_Missense_Mutation_p.R326Q|POU2F1_uc001gee.2_Missense_Mutation_p.R328Q|POU2F1_uc010plh.1_Missense_Mutation_p.R265Q|POU2F1_uc001gef.2_Missense_Mutation_p.R340Q|POU2F1_uc001geg.2_Missense_Mutation_p.R226Q|POU2F1_uc009wvg.1_5'Flank	p.R328Q	NM_002697	NP_002688	P14859	PO2F1_HUMAN			11	1145	+			328			POU-specific.		B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.983G>A		.	.	.	.	.	.	.	.	.	.	G	26.6	4.751734	0.89753	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	D;D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	6.17	5.26	0.73747	POU-specific (4);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.93789	0.8014	M	0.85041	2.73	0.80722	D	1	P;D;P;P;P	0.89917	0.878;1.0;0.852;0.852;0.878	B;D;B;B;B	0.87578	0.2;0.998;0.054;0.126;0.09	D	0.94923	0.8075	10	0.87932	D	0	.	14.5507	0.68065	0.0695:0.0:0.9305:0.0	.	288;328;340;326;328	B4E029;P14859-4;P14859-2;P14859-3;P14859	.;.;.;.;PO2F1_HUMAN	Q	351;288;326;328;328;340;236	ENSP00000356840:R351Q;ENSP00000401217:R288Q;ENSP00000356839:R326Q;ENSP00000414660:R328Q;ENSP00000441285:R328Q;ENSP00000356836:R340Q;ENSP00000415993:R236Q	ENSP00000356836:R340Q	R	+	2	0	POU2F1	165632211	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.866000	0.99616	1.616000	0.50265	0.655000	0.94253	CGA		0.428	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_002697		124	13	0	0	0	0.139131	0	124	13		
CAMSAP2	23271	broad.mit.edu	37	1	200819069	200819069	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:200819069G>A	ENST00000236925.4	+	12	3254	c.3205G>A	c.(3205-3207)Gaa>Aaa	p.E1069K	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.E1042K|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.E1058K			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1069					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										ACATAATCCAGAAGAAAAGGA	0.413																																						uc001gvl.2		NaN																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(3205-3207)GAA>AAA		calmodulin regulated spectrin-associated protein							111.0	110.0	110.0					1																	200819069		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200819069G>A	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.3205G>A	1.37:g.200819069G>A	ENSP00000236925:p.Glu1069Lys					CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.E1058K|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.E1042K	p.E1069K	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN			12	3475	+			1069					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.3205G>A		.	.	.	.	.	.	.	.	.	.	G	3.287	-0.145792	0.06627	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.13420	2.59;2.59;2.59	5.92	4.0	0.46444	.	0.655490	0.16635	N	0.205887	T	0.13243	0.0321	L	0.47716	1.5	0.09310	N	1	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.12156	0.002;0.002;0.007	T	0.36529	-0.9744	10	0.06494	T	0.89	-13.0096	16.5186	0.84307	0.0:0.2471:0.7529:0.0	.	1042;1069;1058	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	K	1058;1042;1069	ENSP00000351684:E1058K;ENSP00000416800:E1042K;ENSP00000236925:E1069K	ENSP00000236925:E1069K	E	+	1	0	CAMSAP1L1	199085692	0.999000	0.42202	0.009000	0.14445	0.905000	0.53344	3.496000	0.53288	0.788000	0.33755	0.655000	0.94253	GAA		0.413	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2		NM_203459		25	67	0	0	0	0.279207	0	25	67		
ACTA1	58	broad.mit.edu	37	1	229567907	229567907	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:229567907G>C	ENST00000366684.3	-	5	744	c.642C>G	c.(640-642)atC>atG	p.I214M	ACTA1_ENST00000366683.2_Missense_Mutation_p.I126M	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	214					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				GCTTCTCCTTGATGTCGCGCA	0.692																																						uc001htm.2		NaN																	0					0						c.(640-642)ATC>ATG		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						37.0	32.0	34.0					1																	229567907		2203	4300	6503	SO:0001583	missense	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229567907G>C	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.642C>G	1.37:g.229567907G>C	ENSP00000355645:p.Ile214Met						p.I214M	NM_001100	NP_001091	P68133	ACTS_HUMAN			5	747	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	214					P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	37	c.642C>G	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901816	0.52227	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682	D;D	0.97959	-4.63;-4.63	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	D	0.96883	0.8982	M	0.73430	2.235	0.80722	D	1	B	0.02656	0.0	B	0.17722	0.019	D	0.95956	0.8958	10	0.87932	D	0	.	16.8952	0.86098	0.0:0.0:1.0:0.0	.	214	P68133	ACTS_HUMAN	M	214;124;126;179	ENSP00000355645:I214M;ENSP00000355644:I126M	ENSP00000312351:I124M	I	-	3	3	ACTA1	227634530	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.477000	0.97925	2.201000	0.70794	0.563000	0.77884	ATC		0.692	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1		NM_001100		16	12	0	0	0	0.160694	0	16	12		
ARID4B	51742	broad.mit.edu	37	1	235403707	235403707	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:235403707A>G	ENST00000264183.3	-	8	1003	c.506T>C	c.(505-507)aTt>aCt	p.I169T	ARID4B_ENST00000366603.2_Missense_Mutation_p.I169T|ARID4B_ENST00000349213.3_Missense_Mutation_p.I169T	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	169					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TAGCTCATCAATCTGTTTCCT	0.373																																						uc001hwq.2		NaN																	0				ovary(2)|lung(1)	3						c.(505-507)ATT>ACT		AT rich interactive domain 4B isoform 1							125.0	114.0	118.0					1																	235403707		2203	4300	6503	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235403707A>G	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.506T>C	1.37:g.235403707A>G	ENSP00000264183:p.Ile169Thr					ARID4B_uc001hwr.2_Missense_Mutation_p.I169T|ARID4B_uc001hws.3_Missense_Mutation_p.I169T|ARID4B_uc001hwu.1_Missense_Mutation_p.I169T|ARID4B_uc001hwt.3_5'UTR	p.I169T	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		8	1004	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	169					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.506T>C	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	A	1.052	-0.675402	0.03378	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183;ENST00000439834;ENST00000418304	T;T;T;T	0.20881	2.04;2.06;2.06;2.05	5.65	2.14	0.27477	RBB1NT (1);	0.478606	0.24282	N	0.039898	T	0.11367	0.0277	L	0.36672	1.1	0.23975	N	0.996295	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.40794	-0.9544	10	0.02654	T	1	-1.4556	5.5959	0.17327	0.427:0.2559:0.3171:0.0	.	169;169;169;169	F8WB31;Q4LE39-3;Q4LE39-2;Q4LE39	.;.;.;ARI4B_HUMAN	T	169	ENSP00000264184:I169T;ENSP00000355562:I169T;ENSP00000264183:I169T;ENSP00000391497:I169T	ENSP00000264183:I169T	I	-	2	0	ARID4B	233470330	0.997000	0.39634	0.996000	0.52242	0.940000	0.58332	0.479000	0.22228	0.124000	0.18369	-0.256000	0.11100	ATT		0.373	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3		NM_016374		38	4	0	0	0	0.225048	0	38	4		
OR2T11	127077	broad.mit.edu	37	1	248789671	248789671	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:248789671G>C	ENST00000330803.2	-	1	820	c.759C>G	c.(757-759)ttC>ttG	p.F253L		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGTATGTGTAGAAGGCAGCCC	0.522																																						uc001ier.1		NaN																	0				lung(1)	1						c.(757-759)TTC>TTG		olfactory receptor, family 2, subfamily T,							71.0	66.0	68.0					1																	248789671		2049	4233	6282	SO:0001583	missense	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248789671G>C	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.759C>G	1.37:g.248789671G>C	ENSP00000328934:p.Phe253Leu						p.F253L	NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	759	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		253			Helical; Name=6; (Potential).		Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	c.759C>G	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	9.270	1.045363	0.19748	.	.	ENSG00000183130	ENST00000330803	T	0.32023	1.47	4.24	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	D	0.000511	T	0.10121	0.0248	N	0.02225	-0.63	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.24621	-1.0155	10	0.23891	T	0.37	.	5.1672	0.15092	0.1886:0.1734:0.638:0.0	.	253	Q8NH01	O2T11_HUMAN	L	253	ENSP00000328934:F253L	ENSP00000328934:F253L	F	-	3	2	OR2T11	246856294	0.000000	0.05858	0.884000	0.34674	0.885000	0.51271	-0.723000	0.04952	0.416000	0.25844	0.655000	0.94253	TTC		0.522	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1		NM_001001964		13	51	0	0	0	0.09319	0	13	51		
SH3BP5L	80851	broad.mit.edu	37	1	249119080	249119080	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr1:249119080G>A	ENST00000366472.5	-	2	1284	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	SH3BP5L_ENST00000475978.1_5'UTR|MIR3124_ENST00000582636.1_RNA	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	19										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			ACTTCAGGCCGCAGCTCCCCC	0.607																																						uc001iew.1		NaN																	0					0						c.(55-57)CGG>TGG		SH3-binding domain protein 5-like							86.0	91.0	89.0					1																	249119080		2203	4300	6503	SO:0001583	missense	80851							g.chr1:249119080G>A	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.55C>T	1.37:g.249119080G>A	ENSP00000355428:p.Arg19Trp					SH3BP5L_uc001iev.1_5'UTR|hsa-mir-3124|MI0014140_5'Flank	p.R19W	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		2	607	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	19					B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Missense_Mutation	SNP	ENST00000366472.5	37	c.55C>T	CCDS31126.1	.	.	.	.	.	.	.	.	.	.	G	7.832	0.720127	0.15372	.	.	ENSG00000175137	ENST00000366472	.	.	.	4.19	1.04	0.20106	.	0.384090	0.23402	N	0.048567	T	0.44808	0.1311	N	0.24115	0.695	0.26550	N	0.97393	D	0.89917	1.0	D	0.71414	0.973	T	0.36432	-0.9748	9	0.87932	D	0	-34.0223	9.809	0.40810	0.0:0.0:0.4712:0.5288	.	19	Q7L8J4	3BP5L_HUMAN	W	19	.	ENSP00000355428:R19W	R	-	1	2	SH3BP5L	247085703	0.585000	0.26774	0.209000	0.23619	0.097000	0.18754	1.036000	0.30228	0.107000	0.17824	0.655000	0.94253	CGG		0.607	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1		NM_030645		91	39	0	0	0	0.139131	0	91	39		
GALNT18	374378	broad.mit.edu	37	11	11362441	11362441	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr11:11362441G>A	ENST00000227756.4	-	7	1614	c.1203C>T	c.(1201-1203)aaC>aaT	p.N401N		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	401					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CCCTGAGAGCGTTCCTGCGGA	0.582																																						uc001mjo.2		NaN																	0					0						c.(1201-1203)AAC>AAT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							199.0	197.0	198.0					11																	11362441		2201	4294	6495	SO:0001819	synonymous_variant	374378					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr11:11362441G>A	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.1203C>T	11.37:g.11362441G>A							p.N401N	NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN		all cancers(16;3.67e-05)|Epithelial(150;0.000184)	7	1624	-			401			Lumenal (Potential).		O95903|Q8NDY9	Silent	SNP	ENST00000227756.4	37	c.1203C>T	CCDS7807.1																																																																																				0.582	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1		NM_198516		103	105	0	0	0	0.139131	0	103	105		
PIK3C2A	5286	broad.mit.edu	37	11	17113773	17113773	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr11:17113773G>C	ENST00000265970.7	-	28	4501	c.4502C>G	c.(4501-4503)gCc>gGc	p.A1501G	PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.A1121G	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1501	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TTTCCTTTTGGCTGCTACATC	0.323																																						uc001mmq.3		NaN																	0				lung(4)|central_nervous_system(4)|stomach(1)|ovary(1)	10						c.(4501-4503)GCC>GGC		phosphoinositide-3-kinase, class 2 alpha	Phosphatidylserine(DB00144)						131.0	123.0	126.0					11																	17113773		2199	4293	6492	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17113773G>C	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.4502C>G	11.37:g.17113773G>C	ENSP00000265970:p.Ala1501Gly					PIK3C2A_uc009ygu.1_Missense_Mutation_p.A104G|PIK3C2A_uc010rcw.1_Missense_Mutation_p.A1121G|PIK3C2A_uc001mmr.3_Intron	p.A1501G	NM_002645	NP_002636	O00443	P3C2A_HUMAN			28	4568	-			1501			PX.		B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.4502C>G	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985307	0.93044	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.41400	1.0;1.0	5.85	5.85	0.93711	Phox homologous domain (5);	0.100063	0.64402	D	0.000002	T	0.53433	0.1796	L	0.50333	1.59	0.58432	D	0.999999	B;D	0.56968	0.202;0.978	B;P	0.53006	0.281;0.715	T	0.48410	-0.9038	10	0.48119	T	0.1	-7.8558	20.1766	0.98178	0.0:0.0:1.0:0.0	.	1121;1501	F5H2B0;O00443	.;P3C2A_HUMAN	G	1501;1121	ENSP00000265970:A1501G;ENSP00000438687:A1121G	ENSP00000265970:A1501G	A	-	2	0	PIK3C2A	17070349	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.809000	0.99208	2.772000	0.95346	0.655000	0.94253	GCC		0.323	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1		NM_002645		32	39	0	0	0	0.134883	0	32	39		
KCNJ11	3767	broad.mit.edu	37	11	17408909	17408909	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr11:17408909C>T	ENST00000339994.4	-	1	1297	c.730G>A	c.(730-732)Gtg>Atg	p.V244M	KCNJ11_ENST00000528731.1_Missense_Mutation_p.V157M|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	244					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	TTGCCACCCACGCCGTTCTCC	0.627											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001mna.2		NaN																	0				ovary(1)	1						c.(730-732)GTG>ATG		potassium inwardly-rectifying channel J11							113.0	99.0	103.0					11																	17408909		2200	4293	6493	SO:0001583	missense	3767					integral to membrane	ATP-activated inward rectifier potassium channel activity	g.chr11:17408909C>T	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.730G>A	11.37:g.17408909C>T	ENSP00000345708:p.Val244Met		OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	717	KCNJ11_uc001mnb.3_Missense_Mutation_p.V157M	p.V244M	NM_000525	NP_000516	B4DWI4	B4DWI4_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	1	1298	-			244					B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Missense_Mutation	SNP	ENST00000339994.4	37	c.730G>A	CCDS31436.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492104	0.26774	.	.	ENSG00000187486	ENST00000339994;ENST00000528731	D;D	0.92199	-2.99;-2.99	5.29	3.41	0.39046	.	0.210998	0.40640	N	0.001058	D	0.88588	0.6477	L	0.47716	1.5	0.47659	D	0.999483	B	0.20459	0.045	B	0.23419	0.046	D	0.83490	0.0069	10	0.49607	T	0.09	.	11.6643	0.51364	0.0:0.8549:0.0:0.1451	.	244	B2RC52	.	M	244;157	ENSP00000345708:V244M;ENSP00000434755:V157M	ENSP00000345708:V244M	V	-	1	0	KCNJ11	17365485	0.900000	0.30661	0.581000	0.28614	0.876000	0.50452	1.815000	0.38981	0.606000	0.29965	-0.291000	0.09656	GTG		0.627	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1		NM_000525		39	46	0	0	0	0.225048	0	39	46		
ACCS	84680	broad.mit.edu	37	11	44089204	44089204	+	Silent	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr11:44089204C>T	ENST00000263776.8	+	2	461	c.27C>T	c.(25-27)ttC>ttT	p.F9F	ACCS_ENST00000533208.1_3'UTR|ACCS_ENST00000432284.2_Silent_p.F9F	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	9					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						AAAAGGACTTCAGGGCTCCCA	0.537																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	uc009yks.1		NaN																	0				breast(2)|ovary(1)|lung(1)	4						c.(25-27)TTC>TTT		1-aminocyclopropane-1-carboxylate synthase							79.0	81.0	80.0					11																	44089204		2203	4300	6503	SO:0001819	synonymous_variant	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44089204C>T	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.27C>T	11.37:g.44089204C>T						ACCS_uc010rfm.1_5'UTR|ACCS_uc010rfn.1_Silent_p.F9F|ACCS_uc001mxx.2_Silent_p.F9F	p.F9F	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN			2	171	+			9					B4E219|Q8WUL4|Q96LX5	Silent	SNP	ENST00000263776.8	37	c.27C>T	CCDS7907.1																																																																																				0.537	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1		NM_032592		37	34	0	0	0	0.225048	0	37	34		
FOLH1	2346	broad.mit.edu	37	11	49227726	49227726	+	Splice_Site	SNP	T	T	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr11:49227726T>G	ENST00000256999.2	-	2	379		c.e2-2		FOLH1_ENST00000340334.7_Splice_Site|FOLH1_ENST00000356696.3_Splice_Site|FOLH1_ENST00000533034.1_Splice_Site|FOLH1_ENST00000343844.4_Splice_Site	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1						folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TAAACCACCCTGAAAAATACA	0.299																																						uc001ngy.2		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.e2-1		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						43.0	48.0	46.0					11																	49227726		2197	4287	6484	SO:0001630	splice_region_variant	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49227726T>G	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.119-2A>C	11.37:g.49227726T>G						FOLH1_uc001ngz.2_Splice_Site_p.G40_splice|FOLH1_uc009yly.2_Splice_Site_p.G25_splice|FOLH1_uc009ylz.2_Splice_Site_p.G25_splice|FOLH1_uc009yma.2_Splice_Site|FOLH1_uc001nha.2_Splice_Site_p.G25_splice	p.G40_splice	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			2	380	-								A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Splice_Site	SNP	ENST00000256999.2	37	c.119_splice	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	T	13.08	2.129175	0.37533	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	.	.	.	4.29	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7163	0.51655	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FOLH1	49184302	1.000000	0.71417	0.965000	0.40720	0.472000	0.32918	3.912000	0.56386	1.917000	0.55516	0.496000	0.49642	.		0.299	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1		NM_004476	Intron	10	77	0	0	0	0.069234	0	10	77		
VWCE	220001	broad.mit.edu	37	11	61036487	61036487	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr11:61036487C>G	ENST00000335613.5	-	15	2175	c.1789G>C	c.(1789-1791)Gat>Cat	p.D597H	VWCE_ENST00000535710.1_Missense_Mutation_p.D62H	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	597	VWFC 4. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ACCGAGCCATCTGCCTGGAGG	0.612																																						uc001nra.2		NaN																	0				ovary(1)	1						c.(1789-1791)GAT>CAT		von Willebrand factor C and EGF domains							76.0	58.0	64.0					11																	61036487		2203	4299	6502	SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61036487C>G	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1789G>C	11.37:g.61036487C>G	ENSP00000334186:p.Asp597His					VWCE_uc001nrb.2_RNA	p.D597H	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN			15	2068	-			597			VWFC 4.		A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	c.1789G>C	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.931006	0.73327	.	.	ENSG00000167992	ENST00000335613;ENST00000535710	T;T	0.62788	0.0;0.0	5.09	5.09	0.68999	von Willebrand factor, type C (3);	0.000000	0.42420	D	0.000713	T	0.66548	0.2800	N	0.16790	0.44	0.41652	D	0.989136	D	0.89917	1.0	D	0.85130	0.997	T	0.72747	-0.4200	10	0.87932	D	0	.	15.4305	0.75092	0.0:1.0:0.0:0.0	.	597	Q96DN2	VWCE_HUMAN	H	597;62	ENSP00000334186:D597H;ENSP00000442570:D62H	ENSP00000334186:D597H	D	-	1	0	VWCE	60793063	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.399000	0.44495	2.363000	0.80096	0.561000	0.74099	GAT		0.612	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1		NM_152718		12	12	0	0	0	0.09319	0	12	12		
GRIA4	2893	broad.mit.edu	37	11	105797472	105797472	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr11:105797472T>C	ENST00000530497.1	+	12	1853	c.1853T>C	c.(1852-1854)cTc>cCc	p.L618P	GRIA4_ENST00000282499.5_Missense_Mutation_p.L618P|GRIA4_ENST00000393127.2_Missense_Mutation_p.L618P|GRIA4_ENST00000525187.1_Missense_Mutation_p.L618P			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	618					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		tttagaTCCCTCTCAGGTCGA	0.363																																						uc001pix.2		NaN																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(1852-1854)CTC>CCC		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						118.0	118.0	118.0					11																	105797472		2202	4298	6500	SO:0001583	missense	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105797472T>C	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1853T>C	11.37:g.105797472T>C	ENSP00000435775:p.Leu618Pro					GRIA4_uc001piw.2_Missense_Mutation_p.L618P	p.L618P	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	13	2299	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	618			Cytoplasmic (Potential).		Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.1853T>C	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.441238	0.83993	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.6	5.6	0.85130	Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000005	T	0.61961	0.2389	L	0.27975	0.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.66436	-0.5924	10	0.87932	D	0	.	16.0858	0.81049	0.0:0.0:0.0:1.0	.	618;618	P48058;G3V164	GRIA4_HUMAN;.	P	618	ENSP00000282499:L618P;ENSP00000376835:L618P;ENSP00000435775:L618P;ENSP00000432180:L618P	ENSP00000282499:L618P	L	+	2	0	GRIA4	105302682	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.997000	0.88414	2.264000	0.75181	0.533000	0.62120	CTC		0.363	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1				21	75	0	0	0	0.294199	0	21	75		
TECTA	7007	broad.mit.edu	37	11	120998486	120998486	+	Silent	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr11:120998486C>T	ENST00000392793.1	+	9	2071	c.1800C>T	c.(1798-1800)ttC>ttT	p.F600F	TECTA_ENST00000264037.2_Silent_p.F600F			O75443	TECTA_HUMAN	tectorin alpha	600	TIL 1.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCCCGAGCTTCAGCCACTACT	0.622																																						uc010rzo.1		NaN																	0				breast(6)|ovary(2)|skin(2)	10						c.(1798-1800)TTC>TTT		tectorin alpha precursor							62.0	64.0	63.0					11																	120998486		2203	4298	6501	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120998486C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1800C>T	11.37:g.120998486C>T							p.F600F	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	8	1800	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	600			TIL 1.			Silent	SNP	ENST00000392793.1	37	c.1800C>T	CCDS8434.1																																																																																				0.622	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1		NM_005422		41	43	0	0	0	0.301197	0	41	43		
NEUROD4	58158	broad.mit.edu	37	12	55420322	55420322	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr12:55420322G>C	ENST00000242994.3	+	2	477	c.99G>C	c.(97-99)gaG>gaC	p.E33D		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	33					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AGGTGAAGGAGGAAGAGAGCA	0.448																																						uc001sgp.3		NaN																	0				ovary(3)|skin(1)	4						c.(97-99)GAG>GAC		neurogenic differentiation 4							77.0	71.0	73.0					12																	55420322		2203	4300	6503	SO:0001583	missense	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55420322G>C	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.99G>C	12.37:g.55420322G>C	ENSP00000242994:p.Glu33Asp						p.E33D	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN			2	477	+			33					B2RAC9	Missense_Mutation	SNP	ENST00000242994.3	37	c.99G>C	CCDS8886.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036387	0.35893	.	.	ENSG00000123307	ENST00000242994	D	0.95885	-3.84	5.26	4.37	0.52481	.	0.604497	0.17698	N	0.165002	D	0.90710	0.7085	L	0.34521	1.04	0.34219	D	0.675196	B	0.19817	0.039	B	0.23419	0.046	D	0.88275	0.2932	10	0.23891	T	0.37	-32.5072	8.2178	0.31524	0.1798:0.0:0.8202:0.0	.	33	Q9HD90	NDF4_HUMAN	D	33	ENSP00000242994:E33D	ENSP00000242994:E33D	E	+	3	2	NEUROD4	53706589	0.958000	0.32768	1.000000	0.80357	0.938000	0.57974	-0.053000	0.11846	1.348000	0.45733	0.655000	0.94253	GAG		0.448	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1				32	11	0	0	0	0.163468	0	32	11		
MTERF2	80298	broad.mit.edu	37	12	107372070	107372070	+	Silent	SNP	A	A	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr12:107372070A>G	ENST00000552029.1	-	2	2491	c.423T>C	c.(421-423)ttT>ttC	p.F141F	C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000392830.2_Silent_p.F141F|MTERFD3_ENST00000240050.4_Silent_p.F141F			Q49AM1	MTEF2_HUMAN		141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						CTTTAATAGTAAAGAAAGATT	0.398																																						uc001tme.1		NaN																	0					0						c.(421-423)TTT>TTC		transcription termination factor-like protein							71.0	76.0	74.0					12																	107372070		2203	4300	6503	SO:0001819	synonymous_variant	80298				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding	g.chr12:107372070A>G																												ENST00000552029.1:c.423T>C	12.37:g.107372070A>G						MTERFD3_uc001tmf.1_Silent_p.F141F|MTERFD3_uc001tmg.1_Silent_p.F141F|MTERFD3_uc001tmh.1_Silent_p.F141F	p.F141F	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN			2	2242	-			141					Q53HM2|Q9H4L6|Q9H7Y9	Silent	SNP	ENST00000552029.1	37	c.423T>C	CCDS9111.1																																																																																				0.398	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1				15	77	0	0	0	0.11911	0	15	77		
DCLK1	9201	broad.mit.edu	37	13	36396889	36396889	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr13:36396889C>T	ENST00000360631.3	-	11	1742	c.1531G>A	c.(1531-1533)Gat>Aat	p.D511N	DCLK1_ENST00000255448.4_Missense_Mutation_p.D511N|DCLK1_ENST00000379893.1_Missense_Mutation_p.D204N			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	511	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GGCTTGATATCACGGTGGACG	0.458																																						uc001uvf.2		NaN																	0				stomach(6)|ovary(2)|skin(1)	9						c.(1531-1533)GAT>AAT		doublecortin-like kinase 1							210.0	173.0	186.0					13																	36396889		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36396889C>T	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1531G>A	13.37:g.36396889C>T	ENSP00000353846:p.Asp511Asn					DCLK1_uc001uve.3_Missense_Mutation_p.D204N|DCLK1_uc010teh.1_Missense_Mutation_p.D204N|DCLK1_uc010abk.2_Intron	p.D511N	NM_004734	NP_004725	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	11	1764	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	511			Protein kinase.	Proton acceptor (By similarity).	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.1531G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.620928	0.96660	.	.	ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893;ENST00000539451	D;D;D	0.92965	-3.14;-3.14;-3.14	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.96932	0.8998	M	0.89414	3.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.998	D	0.97019	0.9742	10	0.87932	D	0	.	20.1379	0.98040	0.0:1.0:0.0:0.0	.	204;511;204	O15075-4;O15075-2;O15075-3	.;.;.	N	203;511;511;204;493	ENSP00000255448:D511N;ENSP00000353846:D511N;ENSP00000369223:D204N	ENSP00000255448:D511N	D	-	1	0	DCLK1	35294889	1.000000	0.71417	0.967000	0.41034	0.849000	0.48306	7.731000	0.84895	2.779000	0.95612	0.655000	0.94253	GAT		0.458	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1		NM_004734		36	40	0	0	0	0.214465	0	36	40		
CHAMP1	283489	broad.mit.edu	37	13	115089918	115089918	+	Missense_Mutation	SNP	C	C	T	rs372508540		TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr13:115089918C>T	ENST00000361283.1	+	3	910	c.601C>T	c.(601-603)Cct>Tct	p.P201S		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	201	Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										GAAACTTGCCCCTGTTCCTTC	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		20245	0.0		0.0	False		,,,				2504	0.001					uc010ahb.2		NaN																	0				ovary(2)	2						c.(601-603)CCT>TCT		zinc finger protein 828							136.0	149.0	144.0					13																	115089918		2203	4300	6503	SO:0001583	missense	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115089918C>T	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.601C>T	13.37:g.115089918C>T	ENSP00000354730:p.Pro201Ser					ZNF828_uc001vuv.2_Missense_Mutation_p.P201S|ZNF828_uc010tko.1_Missense_Mutation_p.P201S	p.P201S	NM_001164144	NP_001157616	Q96JM3	ZN828_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.104)	OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197)	3	930	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_epithelial(44;0.122)|all_lung(25;0.123)	201			Pro-rich.		B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	c.601C>T	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	C	1.911	-0.450797	0.04572	.	.	ENSG00000198824	ENST00000361283	T	0.01178	5.22	5.2	3.48	0.39840	.	0.330009	0.22210	N	0.063108	T	0.01124	0.0037	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.48246	-0.9052	9	.	.	.	-2.8152	7.9766	0.30159	0.0:0.7219:0.1317:0.1463	.	201	Q96JM3	ZN828_HUMAN	S	201	ENSP00000354730:P201S	.	P	+	1	0	ZNF828	114108020	0.000000	0.05858	0.038000	0.18304	0.263000	0.26337	0.585000	0.23879	0.593000	0.29745	-0.140000	0.14226	CCT		0.488	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2		NM_032436		94	112	0	0	0	0.139131	0	94	112		
RABGGTA	5875	broad.mit.edu	37	14	24739609	24739609	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr14:24739609C>T	ENST00000399409.3	-	3	653	c.170G>A	c.(169-171)gGa>gAa	p.G57E	RABGGTA_ENST00000216840.6_Missense_Mutation_p.G57E|RABGGTA_ENST00000560777.1_5'Flank|RABGGTA_ENST00000559586.1_5'UTR	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	57					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		AGGGTTGGCTCCCAGAATCTG	0.537																																						uc001wof.2		NaN																	0					0						c.(169-171)GGA>GAA		Rab geranylgeranyltransferase alpha							59.0	64.0	62.0					14																	24739609		1988	4175	6163	SO:0001583	missense	5875				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	g.chr14:24739609C>T		CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.170G>A	14.37:g.24739609C>T	ENSP00000382341:p.Gly57Glu					RABGGTA_uc001woe.2_5'Flank|RABGGTA_uc001wog.2_Missense_Mutation_p.G57E|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA	p.G57E	NM_004581	NP_004572	Q92696	PGTA_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	3	592	-			57			PFTA 1.		A8K5N2|D3DS69	Missense_Mutation	SNP	ENST00000399409.3	37	c.170G>A	CCDS45088.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673648	0.47781	.	.	ENSG00000100949	ENST00000216840;ENST00000399409;ENST00000543002	T;T	0.37915	1.17;1.17	5.31	5.31	0.75309	Protein prenyltransferase (1);	0.134719	0.49916	D	0.000136	T	0.14830	0.0358	N	0.02985	-0.445	0.80722	D	1	B	0.16396	0.017	B	0.22152	0.038	T	0.13255	-1.0516	10	0.02654	T	1	-7.3127	12.7357	0.57222	0.0:0.7191:0.2809:0.0	.	57	Q92696	PGTA_HUMAN	E	57;57;20	ENSP00000216840:G57E;ENSP00000382341:G57E	ENSP00000216840:G57E	G	-	2	0	RABGGTA	23809449	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.229000	0.51278	2.475000	0.83589	0.563000	0.77884	GGA		0.537	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5		NM_182836		18	1	0	0	0	0.160694	0	18	1		
RABGGTA	5875	broad.mit.edu	37	14	24739631	24739631	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr14:24739631C>T	ENST00000399409.3	-	3	631	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	RABGGTA_ENST00000216840.6_Missense_Mutation_p.E50K|RABGGTA_ENST00000560777.1_5'Flank|RABGGTA_ENST00000559586.1_5'UTR	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	50					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		CTTGTCAGTTCCAGCACGGAC	0.522																																						uc001wof.2		NaN																	0					0						c.(148-150)GAA>AAA		Rab geranylgeranyltransferase alpha							56.0	61.0	59.0					14																	24739631		1994	4174	6168	SO:0001583	missense	5875				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	g.chr14:24739631C>T		CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.148G>A	14.37:g.24739631C>T	ENSP00000382341:p.Glu50Lys					RABGGTA_uc001woe.2_5'Flank|RABGGTA_uc001wog.2_Missense_Mutation_p.E50K|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA	p.E50K	NM_004581	NP_004572	Q92696	PGTA_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	3	570	-			50			PFTA 1.		A8K5N2|D3DS69	Missense_Mutation	SNP	ENST00000399409.3	37	c.148G>A	CCDS45088.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443229	0.43429	.	.	ENSG00000100949	ENST00000216840;ENST00000399409;ENST00000543002	T;T	0.43294	0.95;0.95	5.31	5.31	0.75309	Protein prenyltransferase (1);	0.244308	0.40222	N	0.001156	T	0.32466	0.0830	N	0.20986	0.625	0.80722	D	1	B	0.18741	0.03	B	0.20767	0.031	T	0.06303	-1.0834	10	0.25751	T	0.34	-8.1216	17.7346	0.88389	0.0:1.0:0.0:0.0	.	50	Q92696	PGTA_HUMAN	K	50;50;13	ENSP00000216840:E50K;ENSP00000382341:E50K	ENSP00000216840:E50K	E	-	1	0	RABGGTA	23809471	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.942000	0.56614	2.475000	0.83589	0.563000	0.77884	GAA		0.522	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5		NM_182836		16	1	0	0	0	0.160694	0	16	1		
RABGGTA	5875	broad.mit.edu	37	14	24740142	24740142	+	Silent	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr14:24740142C>T	ENST00000399409.3	-	2	498	c.15G>A	c.(13-15)ctG>ctA	p.L5L	RABGGTA_ENST00000216840.6_Silent_p.L5L|RABGGTA_ENST00000560777.1_5'Flank|RABGGTA_ENST00000559586.1_5'UTR	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	5					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		TCTTCACCTTCAGGCGTCCGT	0.557																																						uc001wof.2		NaN																	0					0						c.(13-15)CTG>CTA		Rab geranylgeranyltransferase alpha							59.0	60.0	60.0					14																	24740142		1982	4180	6162	SO:0001819	synonymous_variant	5875				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	g.chr14:24740142C>T		CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.15G>A	14.37:g.24740142C>T						RABGGTA_uc001woe.2_5'Flank|RABGGTA_uc001wog.2_Silent_p.L5L|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA	p.L5L	NM_004581	NP_004572	Q92696	PGTA_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	2	437	-			5					A8K5N2|D3DS69	Silent	SNP	ENST00000399409.3	37	c.15G>A	CCDS45088.1																																																																																				0.557	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5		NM_182836		8	2	0	0	0	0.047766	0	8	2		
FAM179B	23116	broad.mit.edu	37	14	45432049	45432049	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr14:45432049G>C	ENST00000361577.3	+	1	639	c.425G>C	c.(424-426)cGa>cCa	p.R142P	FAM179B_ENST00000382233.2_Missense_Mutation_p.R142P|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000553817.1_5'Flank|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.R142P	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	142										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GCACTGGGCCGAGTGCTTGTG	0.627																																						uc001wvv.2		NaN																	0				skin(2)|upper_aerodigestive_tract(1)	3						c.(424-426)CGA>CCA		hypothetical protein LOC23116							71.0	81.0	77.0					14																	45432049		2189	4281	6470	SO:0001583	missense	23116						binding	g.chr14:45432049G>C	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.425G>C	14.37:g.45432049G>C	ENSP00000355045:p.Arg142Pro					FAM179B_uc001wvw.2_Missense_Mutation_p.R142P|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.R142P|FAM179B_uc001wvu.2_Missense_Mutation_p.R142P	p.R142P	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN			1	634	+			142					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.425G>C	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300237	0.60195	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.58060	0.36;0.36;0.36	4.64	4.64	0.57946	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.34986	N	0.003539	T	0.57636	0.2067	N	0.24115	0.695	0.38856	D	0.956388	D;D;D;D	0.76494	0.998;0.999;0.998;0.998	D;D;D;D	0.80764	0.974;0.994;0.987;0.974	T	0.62718	-0.6795	10	0.56958	D	0.05	-6.5115	12.8784	0.58003	0.0:0.0:1.0:0.0	.	142;142;142;142	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	P	142	ENSP00000355045:R142P;ENSP00000354917:R142P;ENSP00000371668:R142P	ENSP00000354917:R142P	R	+	2	0	FAM179B	44501799	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.155000	0.50700	2.410000	0.81850	0.655000	0.94253	CGA		0.627	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1		XM_113781		54	11	0	0	0	0.139131	0	54	11		
FAM179B	23116	broad.mit.edu	37	14	45432303	45432303	+	Missense_Mutation	SNP	G	G	C	rs148819135	byFrequency	TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr14:45432303G>C	ENST00000361577.3	+	1	893	c.679G>C	c.(679-681)Gat>Cat	p.D227H	FAM179B_ENST00000382233.2_Missense_Mutation_p.D227H|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000553817.1_5'Flank|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.D227H	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	227										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GGAAAGTACCGATGCCCGACT	0.493																																						uc001wvv.2		NaN																	0				skin(2)|upper_aerodigestive_tract(1)	3						c.(679-681)GAT>CAT		hypothetical protein LOC23116							143.0	136.0	139.0					14																	45432303		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45432303G>C	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.679G>C	14.37:g.45432303G>C	ENSP00000355045:p.Asp227His					FAM179B_uc001wvw.2_Missense_Mutation_p.D227H|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.D227H|FAM179B_uc001wvu.2_Missense_Mutation_p.D227H	p.D227H	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN			1	888	+			227					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.679G>C	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127172	0.56721	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.58797	0.31;0.31;0.31	4.96	4.96	0.65561	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.48767	D	0.000180	T	0.63105	0.2483	N	0.24115	0.695	0.37272	D	0.907454	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	T	0.70163	-0.4947	10	0.72032	D	0.01	-13.4384	13.5701	0.61841	0.0:0.0:1.0:0.0	.	227;227;227;227	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	H	227	ENSP00000355045:D227H;ENSP00000354917:D227H;ENSP00000371668:D227H	ENSP00000354917:D227H	D	+	1	0	FAM179B	44502053	0.962000	0.33011	0.994000	0.49952	0.992000	0.81027	3.320000	0.51991	2.571000	0.86741	0.655000	0.94253	GAT		0.493	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1		XM_113781		57	6	0	0	0	0.139131	0	57	6		
TTC8	123016	broad.mit.edu	37	14	89307466	89307466	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr14:89307466A>G	ENST00000345383.5	+	4	469	c.385A>G	c.(385-387)Atc>Gtc	p.I129V	TTC8_ENST00000380656.2_Missense_Mutation_p.I139V|TTC8_ENST00000358622.5_5'Flank|Y_RNA_ENST00000384612.1_RNA|TTC8_ENST00000346301.4_Missense_Mutation_p.I129V|TTC8_ENST00000536576.1_5'UTR|TTC8_ENST00000338104.6_Missense_Mutation_p.I129V|TTC8_ENST00000354441.6_Intron	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	139					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GGAACAGGCTATCAGAACACC	0.527																																						uc010ath.2		NaN																	0					0						c.(385-387)ATC>GTC		tetratricopeptide repeat domain 8 isoform B							56.0	62.0	60.0					14																	89307466		2203	4300	6503	SO:0001583	missense	123016	Bardet-Biedl_syndrome			cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	g.chr14:89307466A>G	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.385A>G	14.37:g.89307466A>G	ENSP00000339486:p.Ile129Val					TTC8_uc010atg.1_RNA|TTC8_uc001xxl.2_5'UTR|TTC8_uc010ati.2_5'UTR|TTC8_uc001xxm.2_Missense_Mutation_p.I129V|TTC8_uc010atj.2_Intron|TTC8_uc001xxi.2_Missense_Mutation_p.I139V|TTC8_uc001xxj.2_Missense_Mutation_p.I129V|TTC8_uc001xxk.2_Missense_Mutation_p.I129V	p.I129V	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN			4	519	+			139					A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	37	c.385A>G	CCDS9885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.26|16.26	3.072400|3.072400	0.55646|0.55646	.|.	.|.	ENSG00000165533|ENSG00000165533	ENST00000345383;ENST00000346301;ENST00000338104;ENST00000380656;ENST00000556651|ENST00000343648	T;T;T;T|.	0.77489|.	-1.1;-1.03;-1.06;-1.06|.	5.46|5.46	4.28|4.28	0.50868|0.50868	.|.	0.100296|.	0.64402|.	D|.	0.000002|.	T|T	0.57301|0.57301	0.2044|0.2044	L|L	0.37561|0.37561	1.115|1.115	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.29612|.	0.083;0.251;0.097;0.251;0.097|.	B;B;B;B;B|.	0.29267|.	0.037;0.1;0.042;0.1;0.028|.	T|T	0.57997|0.57997	-0.7714|-0.7714	10|6	0.09590|0.56958	T|D	0.72|0.05	-5.7942|-5.7942	12.4538|12.4538	0.55691|0.55691	0.8598:0.1402:0.0:0.0|0.8598:0.1402:0.0:0.0	.|.	139;129;139;129;139|.	Q8TAM2;G3V2Z9;Q8TAM2-3;G3V324;Q8TAM2-4|.	TTC8_HUMAN;.;.;.;.|.	V|C	129;129;129;139;129|180	ENSP00000339486:I129V;ENSP00000298324:I129V;ENSP00000337653:I129V;ENSP00000370031:I139V|.	ENSP00000337653:I129V|ENSP00000343586:Y180C	I|Y	+|+	1|2	0|0	TTC8|TTC8	88377219|88377219	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.943000|0.943000	0.58893|0.58893	6.117000|6.117000	0.71577|0.71577	0.859000|0.859000	0.35456|0.35456	0.460000|0.460000	0.39030|0.39030	ATC|TAT		0.527	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1		NM_144596		20	55	0	0	0	0.219247	0	20	55		
MYO9A	4649	broad.mit.edu	37	15	72146901	72146901	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr15:72146901C>G	ENST00000356056.5	-	35	6635	c.6163G>C	c.(6163-6165)Gag>Cag	p.E2055Q	MYO9A_ENST00000444904.1_Missense_Mutation_p.E2036Q|MYO9A_ENST00000564571.1_Missense_Mutation_p.E2055Q|MYO9A_ENST00000424560.1_Missense_Mutation_p.E2126Q	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2055	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GATGACAGCTCTGGATCATAC	0.348																																						uc002atl.3		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(6163-6165)GAG>CAG		myosin IXA							82.0	75.0	77.0					15																	72146901		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72146901C>G	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.6163G>C	15.37:g.72146901C>G	ENSP00000348349:p.Glu2055Gln					MYO9A_uc002atj.2_5'UTR|MYO9A_uc002atk.2_Missense_Mutation_p.E850Q	p.E2055Q	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			35	6636	-			2055			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.6163G>C	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649443	0.87958	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.85013	-1.92;-1.93;-1.92	5.69	5.69	0.88448	.	.	.	.	.	D	0.88991	0.6588	L	0.47078	1.49	0.58432	D	0.999999	D	0.60575	0.988	P	0.58391	0.838	D	0.87757	0.2596	9	0.45353	T	0.12	.	20.1608	0.98132	0.0:1.0:0.0:0.0	.	2055	B2RTY4	MYO9A_HUMAN	Q	2055;2126;2036	ENSP00000348349:E2055Q;ENSP00000399162:E2126Q;ENSP00000398250:E2036Q	ENSP00000348349:E2055Q	E	-	1	0	MYO9A	69933955	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.419000	0.80179	2.843000	0.97960	0.591000	0.81541	GAG		0.348	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1		NM_006901		53	48	0	0	0	0.139131	0	53	48		
TM6SF1	53346	broad.mit.edu	37	15	83776476	83776476	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr15:83776476C>G	ENST00000322019.9	+	1	318	c.44C>G	c.(43-45)tCg>tGg	p.S15W	TM6SF1_ENST00000379390.6_Missense_Mutation_p.S15W|TM6SF1_ENST00000565774.1_Missense_Mutation_p.S15W|TM6SF1_ENST00000379386.4_Missense_Mutation_p.S15W|TM6SF1_ENST00000564988.1_3'UTR			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	15						integral component of membrane (GO:0016021)		p.S15W(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CTGTCCCTCTCGGCCATCCCG	0.736																																						uc002bjp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(43-45)TCG>TGG		transmembrane 6 superfamily member 1 isoform 1							29.0	27.0	27.0					15																	83776476		2200	4300	6500	SO:0001583	missense	53346					integral to membrane		g.chr15:83776476C>G	AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.44C>G	15.37:g.83776476C>G	ENSP00000317000:p.Ser15Trp					TM6SF1_uc010bmq.2_Missense_Mutation_p.S15W|TM6SF1_uc002bjq.2_Missense_Mutation_p.S15W|TM6SF1_uc010bmr.2_RNA	p.S15W	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN			1	153	+			15			Helical; (Potential).		A8K7T5|H3BU56|Q4U0U5	Missense_Mutation	SNP	ENST00000322019.9	37	c.44C>G	CCDS10323.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.462998	0.63513	.	.	ENSG00000136404	ENST00000322019;ENST00000379386;ENST00000379384;ENST00000379390;ENST00000258909	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	3.12	2.19	0.27852	.	0.244473	0.31847	U	0.006973	T	0.34571	0.0902	L	0.29908	0.895	0.43852	D	0.996443	P;D;P	0.62365	0.888;0.991;0.888	B;P;P	0.54174	0.277;0.744;0.466	T	0.07790	-1.0754	10	0.66056	D	0.02	-5.543	7.7752	0.29033	0.0:0.8663:0.0:0.1337	.	15;15;15	E9PD04;Q6P4D7;Q9BZW5	.;.;TM6S1_HUMAN	W	15	ENSP00000317000:S15W;ENSP00000368696:S15W;ENSP00000368693:S15W;ENSP00000368700:S15W;ENSP00000258909:S15W	ENSP00000258909:S15W	S	+	2	0	TM6SF1	81567480	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	3.405000	0.52630	0.318000	0.23185	0.306000	0.20318	TCG		0.736	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1		NM_023003		5	4	0	0	0	0.217242	0	5	4		
FANCI	55215	broad.mit.edu	37	15	89858609	89858609	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr15:89858609G>A	ENST00000310775.7	+	37	3999	c.3913G>A	c.(3913-3915)Gaa>Aaa	p.E1305K	FANCI_ENST00000300027.8_Missense_Mutation_p.E1245K|FANCI_ENST00000566615.1_3'UTR	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	1305					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TGGTGAAGATGAAAATGAAGA	0.498								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc010bnp.1		NaN																	0				ovary(2)	2						c.(3913-3915)GAA>AAA	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group I isoform							102.0	82.0	89.0					15																	89858609		2200	4299	6499	SO:0001583	missense	55215	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89858609G>A	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.3913G>A	15.37:g.89858609G>A	ENSP00000310842:p.Glu1305Lys					FANCI_uc002bnm.1_Missense_Mutation_p.E1245K|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.E1065K|FANCI_uc002bnq.1_Missense_Mutation_p.E718K	p.E1305K	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN			37	4003	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		1305					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.3913G>A	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.637820	0.29157	.	.	ENSG00000140525	ENST00000300027;ENST00000310775	T;T	0.71341	-0.56;-0.56	5.64	4.73	0.59995	.	0.765381	0.12393	N	0.472872	T	0.62502	0.2433	L	0.44542	1.39	0.28236	N	0.925919	B;B;B	0.22211	0.0;0.066;0.066	B;B;B	0.17979	0.001;0.02;0.013	T	0.49716	-0.8910	10	0.11485	T	0.65	-2.537	14.7912	0.69844	0.0693:0.0:0.9307:0.0	.	1305;1244;1245	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	K	1245;1305	ENSP00000300027:E1245K;ENSP00000310842:E1305K	ENSP00000300027:E1245K	E	+	1	0	FANCI	87659613	0.196000	0.23350	0.007000	0.13788	0.175000	0.22909	2.146000	0.42216	1.387000	0.46486	-0.137000	0.14449	GAA		0.498	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1		NM_018193		31	39	0	0	0	0.125774	0	31	39		
CHD2	1106	broad.mit.edu	37	15	93540489	93540489	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr15:93540489C>G	ENST00000394196.4	+	30	4809	c.3741C>G	c.(3739-3741)tgC>tgG	p.C1247W	CHD2_ENST00000557381.1_Missense_Mutation_p.C1247W	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1247					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TTAGATACTGCTTAACCTGTC	0.398																																						uc002bsp.2		NaN																	0				ovary(1)|skin(1)	2						c.(3739-3741)TGC>TGG		chromodomain helicase DNA binding protein 2							115.0	114.0	115.0					15																	93540489		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93540489C>G	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3741C>G	15.37:g.93540489C>G	ENSP00000377747:p.Cys1247Trp					CHD2_uc002bso.1_Missense_Mutation_p.C1247W	p.C1247W	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		30	4316	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1247					C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.3741C>G	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	C	9.697	1.153437	0.21371	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	D;D	0.89343	-2.5;-2.49	5.2	2.29	0.28610	.	0.209202	0.23744	U	0.044991	T	0.74313	0.3700	N	0.14661	0.345	0.80722	D	1	P;P	0.46578	0.553;0.88	B;B	0.35073	0.161;0.195	T	0.69143	-0.5223	10	0.38643	T	0.18	-9.345	8.655	0.34058	0.0:0.7064:0.0:0.2936	.	1247;1247	O14647;O14647-2	CHD2_HUMAN;.	W	1247	ENSP00000377747:C1247W;ENSP00000451366:C1247W	ENSP00000377747:C1247W	C	+	3	2	CHD2	91341493	1.000000	0.71417	0.976000	0.42696	0.823000	0.46562	1.183000	0.32041	0.302000	0.22762	0.650000	0.86243	TGC		0.398	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3		NM_001271		24	48	0	0	0	0.249174	0	24	48		
CHD2	1106	broad.mit.edu	37	15	93540504	93540504	+	Silent	SNP	C	C	G	rs141696596		TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr15:93540504C>G	ENST00000394196.4	+	30	4824	c.3756C>G	c.(3754-3756)gtC>gtG	p.V1252V	CHD2_ENST00000557381.1_Silent_p.V1252V	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1252					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCTGTCGTGTCAAAGCTGCAC	0.388													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17790	0.0		0.0	False		,,,				2504	0.0					uc002bsp.2		NaN																	0				ovary(1)|skin(1)	2						c.(3754-3756)GTC>GTG		chromodomain helicase DNA binding protein 2							129.0	128.0	128.0					15																	93540504		2197	4298	6495	SO:0001819	synonymous_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93540504C>G	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3756C>G	15.37:g.93540504C>G						CHD2_uc002bso.1_Silent_p.V1252V	p.V1252V	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		30	4331	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1252					C6G482|Q96IP5	Silent	SNP	ENST00000394196.4	37	c.3756C>G	CCDS10374.2																																																																																				0.388	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3		NM_001271		30	46	0	0	0	0.116897	0	30	46		
TNRC6A	27327	broad.mit.edu	37	16	24815516	24815516	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr16:24815516G>A	ENST00000395799.3	+	12	3842	c.3713G>A	c.(3712-3714)cGa>cAa	p.R1238Q	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1238Q	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1238	Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CAAGACAAACGAATGGAGATA	0.398																																						uc002dmm.2		NaN																	0				ovary(2)	2						c.(3712-3714)CGA>CAA		trinucleotide repeat containing 6A							84.0	79.0	81.0					16																	24815516		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24815516G>A	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.3713G>A	16.37:g.24815516G>A	ENSP00000379144:p.Arg1238Gln					TNRC6A_uc010bxs.2_Missense_Mutation_p.R985Q|TNRC6A_uc002dmn.2_Missense_Mutation_p.R985Q|TNRC6A_uc002dmo.2_Missense_Mutation_p.R926Q|TNRC6A_uc002dmp.2_5'UTR|TNRC6A_uc002dmq.2_5'Flank	p.R1238Q	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	12	3827	+			1238			Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.3713G>A	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522642	0.85600	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.13538	2.58;2.58	6.08	6.08	0.98989	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.30603	0.0770	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.63957	0.775;0.92	T	0.00053	-1.2186	10	0.35671	T	0.21	-1.767	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1238;1238	Q8NDV7-6;Q8NDV7	.;TNR6A_HUMAN	Q	1238	ENSP00000326900:R1238Q;ENSP00000379144:R1238Q	ENSP00000326900:R1238Q	R	+	2	0	TNRC6A	24723017	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.828000	0.92047	2.894000	0.99253	0.591000	0.81541	CGA		0.398	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1		NM_020847		27	62	0	0	0	0.099896	0	27	62		
FBXW10	10517	broad.mit.edu	37	17	18671866	18671866	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:18671866G>A	ENST00000395665.4	+	10	1945	c.1724G>A	c.(1723-1725)gGa>gAa	p.G575E	FBXW10_ENST00000301938.4_Missense_Mutation_p.G575E|FBXW10_ENST00000395667.1_Missense_Mutation_p.G575E|FBXW10_ENST00000308799.4_Missense_Mutation_p.G604E			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	575										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GGCCATGAGGGAGCCGTGAAA	0.527																																						uc002guk.2		NaN																	0				ovary(1)	1						c.(1723-1725)GGA>GAA		F-box and WD-40 domain protein 10							125.0	117.0	119.0					17																	18671866		2203	4300	6503	SO:0001583	missense	10517							g.chr17:18671866G>A	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.1724G>A	17.37:g.18671866G>A	ENSP00000379025:p.Gly575Glu					FBXW10_uc002guj.2_Missense_Mutation_p.G575E|FBXW10_uc002gul.2_Missense_Mutation_p.G604E|FBXW10_uc010cqh.1_Missense_Mutation_p.G575E	p.G575E	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN			10	1956	+			575			WD 6.		C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.1724G>A	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	G	12.98	2.100837	0.37048	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	2.97	2.97	0.34412	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.146897	0.45126	U	0.000397	T	0.73938	0.3651	L	0.61218	1.895	0.53688	D	0.999973	D;D;D;D	0.89917	0.996;1.0;1.0;1.0	D;D;D;D	0.97110	0.979;1.0;1.0;0.983	T	0.76793	-0.2828	10	0.72032	D	0.01	.	11.7598	0.51896	0.0:0.0:1.0:0.0	.	575;604;575;575	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	E	575;604;575;575	ENSP00000379026:G575E;ENSP00000310382:G604E;ENSP00000306937:G575E;ENSP00000379025:G575E	ENSP00000306937:G575E	G	+	2	0	FBXW10	18612591	1.000000	0.71417	0.992000	0.48379	0.158000	0.22134	6.269000	0.72558	1.661000	0.50771	0.194000	0.17425	GGA		0.527	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2		NM_031456		19	39	0	0	0	0.204396	0	19	39		
RHBDL3	162494	broad.mit.edu	37	17	30615898	30615898	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:30615898G>A	ENST00000269051.4	+	4	396	c.382G>A	c.(382-384)Ggg>Agg	p.G128R	RHBDL3_ENST00000538145.1_Missense_Mutation_p.G120R|RHBDL3_ENST00000536287.1_Missense_Mutation_p.G30R	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	128						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				GGAGGAGAAGGGGCTGAGCCT	0.592																																						uc002hhe.1		NaN																	0				ovary(1)	1						c.(382-384)GGG>AGG		rhomboid protease 3							56.0	51.0	53.0					17																	30615898		2203	4300	6503	SO:0001583	missense	162494				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	g.chr17:30615898G>A	AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"""EF-hand domain containing"""	16502	protein-coding gene	gene with protein product			"""rhomboid, veinlet-like 4 (Drosophila)"""	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.382G>A	17.37:g.30615898G>A	ENSP00000269051:p.Gly128Arg					RHBDL3_uc010csw.1_Missense_Mutation_p.G120R|RHBDL3_uc010csx.1_Missense_Mutation_p.G128R|RHBDL3_uc010csy.1_Missense_Mutation_p.G30R|RHBDL3_uc002hhf.1_Missense_Mutation_p.G30R	p.G128R	NM_138328	NP_612201	P58872	RHBL3_HUMAN			4	396	+		Breast(31;0.116)|Ovarian(249;0.182)	128					A6NMH1|Q495Y4|Q495Y5|Q495Y6	Missense_Mutation	SNP	ENST00000269051.4	37	c.382G>A	CCDS32613.1	.	.	.	.	.	.	.	.	.	.	G	34	5.312395	0.95655	.	.	ENSG00000141314	ENST00000431505;ENST00000269051;ENST00000538145;ENST00000536287	T;T;T;T	0.65732	-0.17;0.47;0.88;1.45	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.77605	0.4155	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.945;1.0;1.0	T	0.76258	-0.3025	10	0.56958	D	0.05	-9.8575	20.4238	0.99064	0.0:0.0:1.0:0.0	.	128;120;128	E9PD28;Q495Y5;P58872	.;.;RHBL3_HUMAN	R	128;128;120;30	ENSP00000394849:G128R;ENSP00000269051:G128R;ENSP00000442092:G120R;ENSP00000466508:G30R	ENSP00000269051:G128R	G	+	1	0	RHBDL3	27640011	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.828000	0.97474	0.655000	0.94253	GGG		0.592	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1		NM_138328		20	17	0	0	0	0.189662	0	20	17		
SLFN12L	100506736	broad.mit.edu	37	17	33807197	33807197	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:33807197C>A	ENST00000260908.7	-	2	149	c.32G>T	c.(31-33)gGa>gTa	p.G11V	SLFN12L_ENST00000449046.1_Missense_Mutation_p.G42V|SLFN12L_ENST00000361112.4_Missense_Mutation_p.G40V|RP11-686D22.9_ENST00000587076.1_RNA	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	11						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TAAGCCATTTCCACGCAGAAA	0.398																																						uc002hjn.2		NaN																	0				ovary(1)	1						c.(118-120)GGA>GTA		schlafen family member 12-like							44.0	33.0	36.0					17																	33807197		692	1591	2283	SO:0001583	missense	342615							g.chr17:33807197C>A	AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.32G>T	17.37:g.33807197C>A	ENSP00000437635:p.Gly11Val						p.G40V	NM_001145027	NP_001138499					3	998	-								F5H6G3	Missense_Mutation	SNP	ENST00000260908.7	37	c.119G>T	CCDS56026.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.573157	0.28092	.	.	ENSG00000205045	ENST00000260908;ENST00000361112;ENST00000449046	T;T;T	0.03831	3.82;3.94;3.79	2.5	0.346	0.16017	.	.	.	.	.	T	0.07098	0.0180	N	0.19112	0.55	0.09310	N	0.999998	D	0.71674	0.998	P	0.60682	0.878	T	0.35919	-0.9769	9	0.72032	D	0.01	.	5.0942	0.14725	0.0:0.7107:0.0:0.2893	.	40	Q6IEE8-2	.	V	11;40;42	ENSP00000437635:G11V;ENSP00000354412:G40V;ENSP00000389348:G42V	ENSP00000437635:G11V	G	-	2	0	SLFN12L	30831310	0.000000	0.05858	0.019000	0.16419	0.017000	0.09413	-0.398000	0.07259	-0.018000	0.14079	0.205000	0.17691	GGA		0.398	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395748.2		XM_496206		17	15	1	0	1.15088e-07	0.146539	1.18924e-07	17	15		
DNAJC7	7266	broad.mit.edu	37	17	40169378	40169378	+	Silent	SNP	G	G	A	rs199672436		TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:40169378G>A	ENST00000457167.4	-	1	293	c.57C>T	c.(55-57)ctC>ctT	p.L19L	NKIRAS2_ENST00000479407.1_5'Flank|NKIRAS2_ENST00000393884.2_5'Flank|NKIRAS2_ENST00000393885.4_5'Flank|DNAJC7_ENST00000316603.7_5'UTR|NKIRAS2_ENST00000393881.3_5'Flank|NKIRAS2_ENST00000462043.2_5'Flank|NKIRAS2_ENST00000393880.1_5'Flank|NKIRAS2_ENST00000449471.4_5'Flank|NKIRAS2_ENST00000307641.5_5'UTR|DNAJC7_ENST00000426588.3_5'Flank|DNAJC7_ENST00000589547.1_5'Flank|NKIRAS2_ENST00000316082.4_5'Flank	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	19					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				CTTGGTCGTCGAGCAGCTCCG	0.657													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14679	0.0		0.0	False		,,,				2504	0.0				Colon(63;618 1117 8600 10857 19751)	uc002hyo.2		NaN																	0				ovary(1)	1						c.(55-57)CTC>CTT		DnaJ (Hsp40) homolog, subfamily C, member 7		G		5,4103		0,5,2049	63.0	72.0	69.0		57	-10.2	0.0	17		69	0,8376		0,0,4188	no	coding-synonymous	DNAJC7	NM_003315.3		0,5,6237	AA,AG,GG		0.0,0.1217,0.0401		19/495	40169378	5,12479	2054	4188	6242	SO:0001819	synonymous_variant	7266				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding	g.chr17:40169378G>A	U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.57C>T	17.37:g.40169378G>A						DNAJC7_uc010wgb.1_5'Flank|DNAJC7_uc010wgc.1_5'UTR|DNAJC7_uc002hyp.2_5'UTR|DNAJC7_uc010cxw.2_5'Flank|NKIRAS2_uc002hyq.2_5'Flank|NKIRAS2_uc010wgd.1_5'Flank|NKIRAS2_uc002hyr.2_5'Flank|NKIRAS2_uc002hys.2_5'Flank|NKIRAS2_uc010wge.1_5'Flank|NKIRAS2_uc002hyt.2_5'Flank	p.L19L	NM_003315	NP_003306	Q99615	DNJC7_HUMAN			1	294	-		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)	19					Q7Z784	Silent	SNP	ENST00000457167.4	37	c.57C>T	CCDS45677.1																																																																																				0.657	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453366.2				52	72	0	0	0	0.139131	0	52	72		
MAP3K14-AS1	100133991	broad.mit.edu	37	17	43345029	43345029	+	RNA	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:43345029C>T	ENST00000585780.1	+	0	2078				MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA					MAP3K14 antisense RNA 1																		AAAGCTCTCTCGGCTGGGCAT	0.607																																						uc002iiw.1		NaN																	0				central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1)	8						c.(2068-2070)CCG>CCA		mitogen-activated protein kinase kinase kinase							98.0	106.0	103.0					17																	43345029		1906	4123	6029			9020				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr17:43345029C>T	AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"""Long non-coding RNAs"""	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43345029C>T						LOC100133991_uc010dah.2_Intron|LOC100133991_uc002iit.3_Intron|LOC100133991_uc010dai.2_Intron|MAP3K14_uc002iiu.1_Silent_p.P220P|MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_Silent_p.P274P	p.P690P	NM_003954	NP_003945	Q99558	M3K14_HUMAN			13	2179	-			690						Silent	SNP	ENST00000585780.1	37	c.2070G>A																																																																																					0.607	MAP3K14-AS1-008	KNOWN	basic	antisense	antisense	OTTHUMT00000450941.1		NR_024434		46	60	0	0	0	0.131918	0	46	60		
ABCC3	8714	broad.mit.edu	37	17	48741058	48741058	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:48741058A>G	ENST00000285238.8	+	9	1095	c.1015A>G	c.(1015-1017)Atc>Gtc	p.I339V	ABCC3_ENST00000427699.1_Missense_Mutation_p.I339V	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	339	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|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)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	GATCAGGTTTATCTCCAACCC	0.587																																						uc002isl.2		NaN																	0				skin(3)|central_nervous_system(1)	4						c.(1015-1017)ATC>GTC		ATP-binding cassette, sub-family C, member 3	Glibenclamide(DB01016)						115.0	113.0	114.0					17																	48741058		2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48741058A>G	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1015A>G	17.37:g.48741058A>G	ENSP00000285238:p.Ile339Val					ABCC3_uc002isk.3_Missense_Mutation_p.I339V|ABCC3_uc002ism.2_Missense_Mutation_p.I21V	p.I339V	NM_003786	NP_003777	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		9	1095	+			339			Extracellular (By similarity).|ABC transmembrane type-1 1.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.1015A>G	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.661494	0.00772	.	.	ENSG00000108846	ENST00000427699;ENST00000285238	D;D	0.88896	-2.44;-2.44	4.4	4.4	0.53042	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.201073	0.40064	N	0.001194	T	0.70237	0.3201	N	0.02985	-0.445	0.37209	D	0.904734	B;B;B	0.18461	0.012;0.028;0.002	B;B;B	0.22753	0.023;0.041;0.013	T	0.67428	-0.5673	10	0.02654	T	1	-9.0972	10.0425	0.42166	0.9169:0.0:0.0831:0.0	.	114;339;339	D3DTY0;O15438;O15438-5	.;MRP3_HUMAN;.	V	339	ENSP00000395160:I339V;ENSP00000285238:I339V	ENSP00000285238:I339V	I	+	1	0	ABCC3	46096057	1.000000	0.71417	0.674000	0.29902	0.182000	0.23217	3.392000	0.52537	1.817000	0.53016	0.402000	0.26972	ATC		0.587	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2		NM_020038		27	49	0	0	0	0.108266	0	27	49		
UNC13D	201294	broad.mit.edu	37	17	73832317	73832317	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:73832317G>A	ENST00000207549.4	-	16	1789	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	UNC13D_ENST00000412096.2_Silent_p.F470F	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	470	Interaction with RAB27A.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTTCAGGTGGAACCATTCAG	0.667									Familial Hemophagocytic Lymphohistiocytosis																													uc002jpp.2		NaN																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(1408-1410)TTC>TTT		unc-13 homolog D							34.0	30.0	32.0					17																	73832317		2203	4298	6501	SO:0001819	synonymous_variant	201294	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73832317G>A	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.1410C>T	17.37:g.73832317G>A						UNC13D_uc010wsk.1_Silent_p.F470F|UNC13D_uc002jpq.1_Silent_p.F120F|UNC13D_uc010dgq.1_Silent_p.F266F	p.F470F	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		16	1790	-			470			Interaction with RAB27A.		B4DWG9|Q9H7K5	Silent	SNP	ENST00000207549.4	37	c.1410C>T	CCDS11730.1																																																																																				0.667	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2		XM_113950		10	9	0	0	0	0.058154	0	10	9		
CANT1	124583	broad.mit.edu	37	17	76993384	76993384	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:76993384G>A	ENST00000302345.2	-	2	815	c.321C>T	c.(319-321)atC>atT	p.I107I	CANT1_ENST00000591732.1_5'Flank|CANT1_ENST00000591773.1_Silent_p.I107I|CANT1_ENST00000392446.5_Silent_p.I107I	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	107					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CGATAACTGCGATTCGATACC	0.577			T	ETV4	prostate																																	uc002jwn.2		NaN		Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate		0					0						c.(319-321)ATC>ATT		calcium activated nucleotidase 1							118.0	124.0	122.0					17																	76993384		2203	4300	6503	SO:0001819	synonymous_variant	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76993384G>A	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"""Soluble Ca-Activated Nucleotidase, isozyme 1"""	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.321C>T	17.37:g.76993384G>A						CANT1_uc002jwk.2_Silent_p.I107I|CANT1_uc002jwj.2_Silent_p.I107I|CANT1_uc002jwl.2_RNA|CANT1_uc002jwm.1_5'Flank	p.I107I	NM_001159772	NP_001153244	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		4	760	-			107			Lumenal (Potential).		B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Silent	SNP	ENST00000302345.2	37	c.321C>T	CCDS11760.1																																																																																				0.577	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2		NM_138793		109	127	0	0	0	0.139131	0	109	127		
ALYREF	10189	broad.mit.edu	37	17	79847100	79847100	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:79847100C>T	ENST00000331204.4	-	3	501	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	ANAPC11_ENST00000571874.2_5'Flank|ANAPC11_ENST00000574924.2_5'Flank|ANAPC11_ENST00000571570.1_5'Flank|ANAPC11_ENST00000584314.1_5'Flank|ANAPC11_ENST00000579133.1_5'Flank|ANAPC11_ENST00000357385.3_5'Flank|ANAPC11_ENST00000571024.2_5'Flank|ANAPC11_ENST00000579978.1_5'Flank|ALYREF_ENST00000505490.2_Missense_Mutation_p.A166T|ALYREF_ENST00000512673.1_5'UTR|ANAPC11_ENST00000392376.3_5'Flank|ANAPC11_ENST00000582222.1_5'Flank|ANAPC11_ENST00000344877.5_5'Flank|ANAPC11_ENST00000578550.1_5'Flank|ANAPC11_ENST00000577747.1_5'Flank|ANAPC11_ENST00000583839.1_5'Flank|ANAPC11_ENST00000572851.2_5'Flank|ANAPC11_ENST00000577425.1_5'Flank|ANAPC11_ENST00000572639.1_5'Flank	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	159	Ala/Arg/Gly-rich.|Interaction with HHV-8 ORF57 protein and with ICP27 from HHV-1. {ECO:0000250}.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|replication fork processing (GO:0031297)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral mRNA export from host cell nucleus (GO:0046784)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|transcription export complex (GO:0000346)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)										GCCTTCAGGGCATCTGCCTTC	0.582																																						uc002kbu.2		NaN																	0					0						c.(496-498)GCC>ACC		THO complex 4							128.0	98.0	108.0					17																	79847100		2203	4300	6503	SO:0001583	missense	10189				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding	g.chr17:79847100C>T	AF047002	CCDS32768.1, CCDS32768.2	17q25.3	2013-02-12	2011-12-12	2011-12-12	ENSG00000183684	ENSG00000183684		"""THO complex subunits"", ""RNA binding motif (RRM) containing"""	19071	protein-coding gene	gene with protein product		604171	"""THO complex 4"""	THOC4		11032328	Standard	NM_005782		Approved	ALY, BEF, ALY/REF, REF	uc002kbu.2	Q86V81	OTTHUMG00000160470	ENST00000331204.4:c.475G>A	17.37:g.79847100C>T	ENSP00000331817:p.Ala159Thr					ANAPC11_uc002kbv.1_5'Flank|ANAPC11_uc002kbw.1_5'Flank|ANAPC11_uc002kbx.1_5'Flank|ANAPC11_uc002kby.1_5'Flank|ANAPC11_uc002kbz.1_5'Flank|ANAPC11_uc002kca.1_5'Flank|ANAPC11_uc002kcb.1_5'Flank|ANAPC11_uc002kcc.1_5'Flank	p.A166T	NM_005782	NP_005773	Q86V81	THOC4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		3	502	-	all_neural(118;0.0878)|Ovarian(332;0.12)		159			RRM.|Ala/Arg/Gly-rich.		O43672	Missense_Mutation	SNP	ENST00000331204.4	37	c.496G>A		.	.	.	.	.	.	.	.	.	.	C	28.5	4.925256	0.92319	.	.	ENSG00000183684	ENST00000331204;ENST00000505490	D;D	0.84442	-1.85;-1.85	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.93910	0.8051	M	0.92268	3.29	0.80722	D	1	D	0.63046	0.992	D	0.65874	0.939	D	0.95268	0.8375	10	0.87932	D	0	.	18.2077	0.89860	0.0:1.0:0.0:0.0	.	166	E9PB61	.	T	159;166	ENSP00000331817:A159T;ENSP00000421592:A166T	ENSP00000331817:A159T	A	-	1	0	THOC4	77440396	1.000000	0.71417	0.997000	0.53966	0.950000	0.60333	7.165000	0.77544	2.535000	0.85469	0.561000	0.74099	GCC		0.582	ALYREF-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_005782		26	26	0	0	0	0.279207	0	26	26		
DCXR	51181	broad.mit.edu	37	17	79994847	79994847	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:79994847C>G	ENST00000306869.2	-	3	242	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	RP13-650J16.1_ENST00000582558.1_RNA|DCXR_ENST00000584318.1_Intron|RP13-650J16.1_ENST00000584705.1_RNA	NM_001195218.1|NM_016286.3	NP_001182147.1|NP_057370.1	Q7Z4W1	DCXR_HUMAN	dicarbonyl/L-xylulose reductase	65					D-xylose metabolic process (GO:0042732)|glucose metabolic process (GO:0006006)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|xylulose metabolic process (GO:0005997)	brush border (GO:0005903)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)	L-xylulose reductase (NADP+) activity (GO:0050038)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)			kidney(1)|lung(3)	4	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TCGGTGGCCTCCCAGTCACCC	0.677																																						uc002kdg.2		NaN																	0					0						c.(193-195)GAG>CAG		dicarbonyl/L-xylulose reductase							18.0	17.0	17.0					17																	79994847		2194	4290	6484	SO:0001583	missense	51181				D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process	membrane	binding|L-xylulose reductase (NADP+) activity	g.chr17:79994847C>G	AB013846	CCDS11799.1	17q25.3	2011-09-14				ENSG00000169738	1.1.1.10	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 20C, member 1"""	608347				11882650, 19027726	Standard	NM_016286		Approved	KIDCR, DCR, SDR20C1	uc002kdg.3	Q7Z4W1		ENST00000306869.2:c.193G>C	17.37:g.79994847C>G	ENSP00000303356:p.Glu65Gln						p.E65Q	NM_016286	NP_057370	Q7Z4W1	DCXR_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		3	208	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		65					Q9BTZ3|Q9UHY9	Missense_Mutation	SNP	ENST00000306869.2	37	c.193G>C	CCDS11799.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401700	0.25291	.	.	ENSG00000169738	ENST00000306869	T	0.25749	1.78	4.96	3.98	0.46160	NAD(P)-binding domain (1);	0.606211	0.16501	N	0.211645	T	0.24236	0.0587	L	0.48642	1.525	0.45452	D	0.998428	B	0.23377	0.084	B	0.25291	0.059	T	0.02736	-1.1117	9	.	.	.	.	12.8477	0.57839	0.4195:0.5805:0.0:0.0	.	65	Q7Z4W1	DCXR_HUMAN	Q	65	ENSP00000303356:E65Q	.	E	-	1	0	DCXR	77588136	1.000000	0.71417	1.000000	0.80357	0.363000	0.29612	3.165000	0.50778	1.043000	0.40175	-0.169000	0.13324	GAG		0.677	DCXR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442153.2				4	6	0	0	0	0.184627	0	4	6		
HEXDC	284004	broad.mit.edu	37	17	80400259	80400259	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr17:80400259G>A	ENST00000327949.9	+	12	1471	c.1460G>A	c.(1459-1461)tGa>tAa	p.*487*	HEXDC_ENST00000337014.6_Missense_Mutation_p.E517K|HEXDC_ENST00000577944.1_Silent_p.L489L			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	0					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CAGGACCCCTGAGGGGAGAGC	0.701																																						uc002kew.2		NaN																	0				ovary(1)|skin(1)	2						c.(1459-1461)TGA>TAA		SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D;							23.0	26.0	25.0					17																	80400259		1879	4079	5958	SO:0001819	synonymous_variant	284004				carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding	g.chr17:80400259G>A	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.1460G>A	17.37:g.80400259G>A						HEXDC_uc002kev.3_Missense_Mutation_p.E517K|HEXDC_uc010diq.2_Silent_p.L489L|HEXDC_uc010wvm.1_RNA	p.*487*			Q8WVB3	HEXDC_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		12	1511	+	Breast(20;0.00106)|all_neural(118;0.0804)		487					B7UUP6|Q8IYN4|Q8TE81	Silent	SNP	ENST00000327949.9	37	c.1460G>A		.	.	.	.	.	.	.	.	.	.	G	16.45	3.125585	0.56721	.	.	ENSG00000169660	ENST00000337014	T	0.38560	1.13	4.26	4.26	0.50523	.	.	.	.	.	T	0.53769	0.1817	.	.	.	0.80722	D	1	P	0.50156	0.932	P	0.53450	0.726	T	0.59413	-0.7459	8	0.87932	D	0	.	12.8919	0.58076	0.0:0.0:1.0:0.0	.	517	Q8WVB3-2	.	K	517	ENSP00000337854:E517K	ENSP00000337854:E517K	E	+	1	0	HEXDC	77993548	1.000000	0.71417	0.999000	0.59377	0.269000	0.26545	2.730000	0.47335	2.304000	0.77564	0.561000	0.74099	GAG		0.701	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1		NM_173620		30	31	0	0	0	0.125774	0	30	31		
FAM210A	125228	broad.mit.edu	37	18	13681707	13681707	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr18:13681707G>C	ENST00000322247.3	-	3	757	c.370C>G	c.(370-372)Caa>Gaa	p.Q124E	FAM210A_ENST00000588475.1_5'UTR|FAM210A_ENST00000402563.1_Missense_Mutation_p.Q124E	NM_001098801.1	NP_001092271.1	Q96ND0	F210A_HUMAN	family with sequence similarity 210, member A	124	DUF1279.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											TTGAATCGTTGATAAAGACTA	0.388																																						uc010dlh.2		NaN																	0				breast(2)	2						c.(370-372)CAA>GAA		hypothetical protein LOC125228							117.0	118.0	117.0					18																	13681707		2203	4300	6503	SO:0001583	missense	125228					integral to membrane		g.chr18:13681707G>C	AK055618	CCDS11866.1	18p11.21	2011-11-24	2011-11-24	2011-11-24	ENSG00000177150	ENSG00000177150			28346	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 19"""	C18orf19		14702039	Standard	NM_152352		Approved	MGC24180, HsT2329	uc010dli.3	Q96ND0	OTTHUMG00000131719	ENST00000322247.3:c.370C>G	18.37:g.13681707G>C	ENSP00000323635:p.Gln124Glu					C18orf19_uc010dlg.2_Missense_Mutation_p.Q124E|C18orf19_uc010dli.2_Missense_Mutation_p.Q124E|C18orf19_uc002ksj.3_Missense_Mutation_p.Q124E|C18orf19_uc010dlj.2_Intron	p.Q124E	NM_001098801	NP_001092271	Q96ND0	CR019_HUMAN			3	802	-			124			DUF1279.		D3DUJ4	Missense_Mutation	SNP	ENST00000322247.3	37	c.370C>G	CCDS11866.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718623	0.68844	.	.	ENSG00000177150	ENST00000322247;ENST00000402563	T;T	0.31510	1.49;1.49	5.51	5.51	0.81932	Domain of unknown function DUF1279 (1);	0.054069	0.85682	D	0.000000	T	0.37598	0.1009	L	0.48362	1.52	0.51482	D	0.999922	D	0.61080	0.989	P	0.57101	0.813	T	0.09552	-1.0669	10	0.05959	T	0.93	-13.3611	14.2883	0.66260	0.0:0.0:0.8514:0.1486	.	124	Q96ND0	CR019_HUMAN	E	124	ENSP00000323635:Q124E;ENSP00000386115:Q124E	ENSP00000323635:Q124E	Q	-	1	0	C18orf19	13671707	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	5.451000	0.66632	2.573000	0.86826	0.655000	0.94253	CAA		0.388	FAM210A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254637.1		NM_152352		59	70	0	0	0	0.139131	0	59	70		
ALKBH7	84266	broad.mit.edu	37	19	6372969	6372969	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr19:6372969G>A	ENST00000245812.3	+	1	526	c.138G>A	c.(136-138)gaG>gaA	p.E46E	ALKBH7_ENST00000596657.1_5'Flank|ALKBH7_ENST00000599849.1_5'Flank	NM_032306.3	NP_115682.1	Q9BT30	ALKB7_HUMAN	alkB, alkylation repair homolog 7 (E. coli)	46					cellular response to DNA damage stimulus (GO:0006974)|fatty acid metabolic process (GO:0006631)|regulation of lipid storage (GO:0010883)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)	mitochondrial matrix (GO:0005759)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CAGAGGAGGAGACGCTGAGCC	0.736																																						uc002meo.1		NaN																	0					0						c.(136-138)GAG>GAA		spermatogenesis associated 11 precursor							7.0	9.0	8.0					19																	6372969		2123	4194	6317	SO:0001819	synonymous_variant	84266					extracellular region|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr19:6372969G>A	AY427650	CCDS12163.1	19p13.3	2008-02-05	2006-02-09	2006-02-09		ENSG00000125652		"""Alkylation repair homologs"""	21306	protein-coding gene	gene with protein product		613305	"""spermatogenesis associated 11"""	SPATA11		12477932	Standard	NM_032306		Approved	MGC10974	uc002meo.2	Q9BT30		ENST00000245812.3:c.138G>A	19.37:g.6372969G>A							p.E46E	NM_032306	NP_115682	Q9BT30	ALKB7_HUMAN			1	526	+			46					B2R4U9|Q53FF3	Silent	SNP	ENST00000245812.3	37	c.138G>A	CCDS12163.1																																																																																				0.736	ALKBH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453036.1		NM_032306		7	2	0	0	0	0.248553	0	7	2		
MED26	9441	broad.mit.edu	37	19	16688392	16688392	+	Silent	SNP	G	G	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr19:16688392G>T	ENST00000263390.3	-	3	511	c.249C>A	c.(247-249)ctC>ctA	p.L83L	CTD-3222D19.2_ENST00000409035.1_Silent_p.L91L|CTC-429P9.4_ENST00000593962.1_5'Flank	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	83	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						CCGGCTCGATGAGCTTCTGCC	0.672																																						uc002nen.1		NaN																	0				ovary(2)	2						c.(247-249)CTC>CTA		mediator complex subunit 26							27.0	32.0	30.0					19																	16688392		2199	4297	6496	SO:0001819	synonymous_variant	9441				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity	g.chr19:16688392G>T	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"""cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"""	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.249C>A	19.37:g.16688392G>T						MED26_uc002nee.2_RNA	p.L83L	NM_004831	NP_004822	O95402	MED26_HUMAN			3	510	-			83			TFIIS N-terminal.		A1A4S3|Q0VGB6	Silent	SNP	ENST00000263390.3	37	c.249C>A	CCDS12347.1																																																																																				0.672	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1		NM_004831		24	26	1	0	2.32416e-17	0.249174	2.53693e-17	24	26		
PDE4C	5143	broad.mit.edu	37	19	18327578	18327578	+	Silent	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr19:18327578C>G	ENST00000355502.3	-	16	2329	c.1458G>C	c.(1456-1458)ctG>ctC	p.L486L	PDE4C_ENST00000594617.3_Silent_p.L486L|PDE4C_ENST00000447275.3_Silent_p.L380L|PDE4C_ENST00000598111.2_Silent_p.L201L|PDE4C_ENST00000594465.3_Silent_p.L486L|PDE4C_ENST00000262805.12_Silent_p.L454L|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000597297.1_Silent_p.L256L|PDE4C_ENST00000539010.1_Silent_p.L255L			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	486					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TGCGCAGACTCAGTCGCTGCT	0.617																																						uc010xqc.1		NaN																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1456-1458)CTG>CTC		phosphodiesterase 4C isoform PDE4C-2	Dyphylline(DB00651)						98.0	90.0	93.0					19																	18327578		2203	4300	6503	SO:0001819	synonymous_variant	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18327578C>G		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1458G>C	19.37:g.18327578C>G						PDE4C_uc002nik.3_Silent_p.L486L|PDE4C_uc002nil.3_Silent_p.L486L|PDE4C_uc002nif.3_Silent_p.L255L|PDE4C_uc002nig.3_Silent_p.L201L|PDE4C_uc002nih.3_Silent_p.L256L|PDE4C_uc010ebk.2_Silent_p.L380L|PDE4C_uc002nii.3_Silent_p.L454L|PDE4C_uc010ebl.2_Silent_p.L200L|PDE4C_uc010xqd.1_Silent_p.L255L	p.L486L	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN			12	1938	-			486					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Silent	SNP	ENST00000355502.3	37	c.1458G>C	CCDS12373.1																																																																																				0.617	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1				42	62	0	0	0	0.257332	0	42	62		
HAPLN4	404037	broad.mit.edu	37	19	19371709	19371709	+	Missense_Mutation	SNP	C	C	T	rs114536312	byFrequency	TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr19:19371709C>T	ENST00000291481.7	-	3	460	c.397G>A	c.(397-399)Gtc>Atc	p.V133I	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	133	Ig-like C2-type.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	TGCAGCGTGACGTTGCGGAGG	0.652													C|||	2	0.000399361	0.0015	0.0	5008	,	,		15674	0.0		0.0	False		,,,				2504	0.0					uc002nmb.2		NaN																	0				pancreas(1)	1						c.(397-399)GTC>ATC		hyaluronan and proteoglycan link protein 4		C	ILE/VAL	7,4399	12.9+/-30.5	0,7,2196	74.0	67.0	69.0		397	4.7	1.0	19	dbSNP_132	69	0,8600		0,0,4300	yes	missense	HAPLN4	NM_023002.2	29	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	benign	133/403	19371709	7,12999	2203	4300	6503	SO:0001583	missense	404037				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr19:19371709C>T	AB107883	CCDS12398.1	19p13.1	2013-01-11						"""Immunoglobulin superfamily / V-set domain containing"""	31357	protein-coding gene	gene with protein product	"""brain link protein 2"""					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.397G>A	19.37:g.19371709C>T	ENSP00000291481:p.Val133Ile					HAPLN4_uc002nmc.2_Missense_Mutation_p.V133I	p.V133I	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	Epithelial(12;0.00575)		3	452	-			133			Ig-like C2-type.		A5PKW5|Q96PW2	Missense_Mutation	SNP	ENST00000291481.7	37	c.397G>A	CCDS12398.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	21.4	4.150582	0.78001	0.001589	0.0	ENSG00000187664	ENST00000291481	T	0.66815	-0.23	4.66	4.66	0.58398	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.076819	0.52532	D	0.000080	T	0.55481	0.1923	N	0.17312	0.475	0.33177	D	0.549031	P	0.45396	0.857	P	0.45167	0.472	T	0.66941	-0.5796	10	0.39692	T	0.17	-45.4889	15.0686	0.72017	0.0:1.0:0.0:0.0	.	133	Q86UW8	HPLN4_HUMAN	I	133	ENSP00000291481:V133I	ENSP00000291481:V133I	V	-	1	0	HAPLN4	19232709	1.000000	0.71417	0.988000	0.46212	0.930000	0.56654	4.405000	0.59741	2.423000	0.82170	0.561000	0.74099	GTC		0.652	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2		NM_023002		27	49	0	0	0	0.294199	0	27	49		
ANKRD27	84079	broad.mit.edu	37	19	33113450	33113450	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr19:33113450G>C	ENST00000306065.4	-	18	1863	c.1705C>G	c.(1705-1707)Cta>Gta	p.L569V		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	569					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GCAATGTGTAGAGGGGTGTCT	0.542																																						uc002ntn.1		NaN																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(1705-1707)CTA>GTA		ankyrin repeat domain 27 (VPS9 domain)							175.0	160.0	165.0					19																	33113450		2203	4300	6503	SO:0001583	missense	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33113450G>C	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1705C>G	19.37:g.33113450G>C	ENSP00000304292:p.Leu569Val						p.L569V	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN			18	1861	-	Esophageal squamous(110;0.137)		569			ANK 5.		Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.1705C>G	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100931	0.56183	.	.	ENSG00000105186	ENST00000306065	D	0.91237	-2.81	5.31	3.16	0.36331	Ankyrin repeat-containing domain (3);	0.156317	0.30036	N	0.010575	D	0.94046	0.8092	M	0.79343	2.45	0.80722	D	1	D	0.63046	0.992	D	0.64410	0.925	D	0.93772	0.7076	10	0.87932	D	0	-8.2888	11.9363	0.52876	0.1431:0.0:0.8569:0.0	.	569	Q96NW4	ANR27_HUMAN	V	569	ENSP00000304292:L569V	ENSP00000304292:L569V	L	-	1	2	ANKRD27	37805290	1.000000	0.71417	0.024000	0.17045	0.429000	0.31625	2.136000	0.42121	0.722000	0.32252	0.655000	0.94253	CTA		0.542	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1		NM_032139		67	84	0	0	0	0.139131	0	67	84		
ERCC2	2068	broad.mit.edu	37	19	45868143	45868143	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr19:45868143G>A	ENST00000391945.4	-	7	624	c.547C>T	c.(547-549)Ctg>Ttg	p.L183L	ERCC2_ENST00000485403.2_Silent_p.L159L|ERCC2_ENST00000391940.4_Silent_p.L159L|ERCC2_ENST00000391944.3_Intron|ERCC2_ENST00000221481.6_Intron	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	183	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CGCCGCCCCAGGGCCTTCAGG	0.652			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002pbj.2		NaN	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	Mis|N|F|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		skin basal cell|skin squamous cell|melanoma			0				lung(2)|pancreas(1)	3						c.(547-549)CTG>TTG	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							44.0	46.0	45.0					19																	45868143		2203	4300	6503	SO:0001819	synonymous_variant	2068	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45868143G>A		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.547C>T	19.37:g.45868143G>A						ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Intron|ERCC2_uc002pbk.2_Silent_p.L159L|ERCC2_uc002pbl.3_Silent_p.L159L|ERCC2_uc010xxj.1_Intron	p.L183L	NM_000400	NP_000391	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	7	594	-		Ovarian(192;0.0728)|all_neural(266;0.112)	183			Helicase ATP-binding.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Silent	SNP	ENST00000391945.4	37	c.547C>T	CCDS33049.1																																																																																				0.652	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2		NM_000400		20	20	0	0	0	0.219247	0	20	20		
HIF3A	64344	broad.mit.edu	37	19	46823770	46823770	+	Silent	SNP	C	C	A	rs376767375		TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr19:46823770C>A	ENST00000377670.4	+	9	1127	c.1096C>A	c.(1096-1098)Cgg>Agg	p.R366R	HIF3A_ENST00000472815.1_Silent_p.R297R|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000420102.2_Silent_p.R315R|HIF3A_ENST00000300862.3_Silent_p.R364R|HIF3A_ENST00000244303.6_Silent_p.R297R|HIF3A_ENST00000600383.1_Silent_p.R297R|HIF3A_ENST00000339613.2_Silent_p.R310R	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	366					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		ACCCATTCAGCGGGGCGCCCC	0.657																																						uc002peh.2		NaN																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1096-1098)CGG>AGG		hypoxia inducible factor 3, alpha subunit							79.0	74.0	76.0					19																	46823770		2203	4300	6503	SO:0001819	synonymous_variant	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46823770C>A	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1096C>A	19.37:g.46823770C>A						HIF3A_uc002peg.3_Silent_p.R366R|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Silent_p.R310R|HIF3A_uc002pej.1_Silent_p.R297R|HIF3A_uc002pek.2_Silent_p.R310R|HIF3A_uc010xxy.1_Silent_p.R297R|HIF3A_uc002pel.2_Silent_p.R364R|HIF3A_uc010xxz.1_Silent_p.R315R	p.R366R	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	9	1125	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	366					B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Silent	SNP	ENST00000377670.4	37	c.1096C>A	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	C	3.453	-0.111522	0.06881	.	.	ENSG00000124440	ENST00000472815	.	.	.	4.47	-0.758	0.11049	.	.	.	.	.	T	0.20577	0.0495	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24404	-1.0161	4	.	.	.	.	2.0716	0.03614	0.3407:0.3863:0.1661:0.1069	.	.	.	.	E	338	.	.	A	+	2	0	HIF3A	51515610	0.046000	0.20272	0.001000	0.08648	0.574000	0.36063	0.178000	0.16820	-0.088000	0.12506	-0.367000	0.07326	GCG		0.657	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3				44	39	1	0	5.20006e-24	0.301197	5.75721e-24	44	39		
TULP2	7288	broad.mit.edu	37	19	49384274	49384274	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr19:49384274G>A	ENST00000221399.3	-	13	1701	c.1557C>T	c.(1555-1557)ttC>ttT	p.F519F		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	519					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GCTTCTAATTGAAACTGGACA	0.512																																						uc002pkz.2		NaN																	0				ovary(1)|kidney(1)|skin(1)	3						c.(1555-1557)TTC>TTT		tubby like protein 2							99.0	103.0	101.0					19																	49384274		2203	4300	6503	SO:0001819	synonymous_variant	7288				visual perception	cytoplasm|extracellular region		g.chr19:49384274G>A	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"""cancer/testis antigen 65"""	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.1557C>T	19.37:g.49384274G>A							p.F519F	NM_003323	NP_003314	O00295	TULP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	13	1708	-		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	519					Q8TC50	Silent	SNP	ENST00000221399.3	37	c.1557C>T	CCDS12739.1																																																																																				0.512	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1		NM_003323		28	49	0	0	0	0.134883	0	28	49		
TULP2	7288	broad.mit.edu	37	19	49384281	49384281	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr19:49384281G>A	ENST00000221399.3	-	13	1694	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	517					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		ATTGAAACTGGACAAGCAGAT	0.517																																						uc002pkz.2		NaN																	0				ovary(1)|kidney(1)|skin(1)	3						c.(1549-1551)TCC>TTC		tubby like protein 2							104.0	107.0	106.0					19																	49384281		2203	4300	6503	SO:0001583	missense	7288				visual perception	cytoplasm|extracellular region		g.chr19:49384281G>A	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"""cancer/testis antigen 65"""	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.1550C>T	19.37:g.49384281G>A	ENSP00000221399:p.Ser517Phe						p.S517F	NM_003323	NP_003314	O00295	TULP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	13	1701	-		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	517					Q8TC50	Missense_Mutation	SNP	ENST00000221399.3	37	c.1550C>T	CCDS12739.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298549	0.60195	.	.	ENSG00000104804	ENST00000221399;ENST00000522341	D;D	0.88124	-2.34;-2.34	4.81	4.81	0.61882	Tubby, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.94863	0.8340	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95966	0.8966	10	0.87932	D	0	-24.4669	15.7753	0.78209	0.0:0.0:1.0:0.0	.	517	O00295	TULP2_HUMAN	F	517;77	ENSP00000221399:S517F;ENSP00000429131:S77F	ENSP00000221399:S517F	S	-	2	0	TULP2	54076093	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	9.013000	0.93629	2.402000	0.81655	0.655000	0.94253	TCC		0.517	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1		NM_003323		31	48	0	0	0	0.173368	0	31	48		
TPO	7173	broad.mit.edu	37	2	1437377	1437377	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr2:1437377C>T	ENST00000345913.4	+	4	438	c.347C>T	c.(346-348)aCg>aTg	p.T116M	TPO_ENST00000539820.1_Missense_Mutation_p.T116M|TPO_ENST00000382269.3_Missense_Mutation_p.T116M|TPO_ENST00000329066.4_Missense_Mutation_p.T116M|TPO_ENST00000382198.1_Missense_Mutation_p.T116M|TPO_ENST00000382201.3_Missense_Mutation_p.T116M|TPO_ENST00000346956.3_Missense_Mutation_p.T116M|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.T116M|TPO_ENST00000349624.3_Missense_Mutation_p.T116M	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	116					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CAGCATCCAACGGGTAATGTG	0.498																																						uc002qww.2		NaN																	0				ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(346-348)ACG>ATG		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						82.0	68.0	73.0					2																	1437377		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1437377C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.347C>T	2.37:g.1437377C>T	ENSP00000318820:p.Thr116Met					TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Missense_Mutation_p.T116M|TPO_uc002qwu.2_Missense_Mutation_p.T116M|TPO_uc002qwr.2_Missense_Mutation_p.T116M|TPO_uc002qwx.2_Missense_Mutation_p.T116M|TPO_uc010yio.1_Missense_Mutation_p.T116M|TPO_uc010yip.1_Missense_Mutation_p.T116M	p.T116M	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	4	438	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	116			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.347C>T	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294326	0.60086	.	.	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35	4.26	4.26	0.50523	.	1.051650	0.07461	N	0.900703	T	0.74756	0.3758	M	0.80746	2.51	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;P	0.67900	0.949;0.954;0.917;0.949;0.799	T	0.69533	-0.5120	10	0.87932	D	0	-10.2094	13.9712	0.64242	0.0:1.0:0.0:0.0	.	116;116;116;116;116	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	M	116;116;116;116;116;116;116;116;116;116;45	ENSP00000371704:T116M;ENSP00000337263:T116M;ENSP00000318820:T116M;ENSP00000263886:T116M;ENSP00000332044:T116M;ENSP00000444840:T116M;ENSP00000329869:T116M;ENSP00000371636:T116M;ENSP00000390994:T116M;ENSP00000371633:T116M;ENSP00000405788:T45M	ENSP00000329869:T116M	T	+	2	0	TPO	1416384	0.235000	0.23794	0.027000	0.17364	0.005000	0.04900	1.726000	0.38085	2.076000	0.62316	0.563000	0.77884	ACG		0.498	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2		NM_000547		8	5	0	0	0	0.27861	0	8	5		
CCT7	10574	broad.mit.edu	37	2	73466864	73466864	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr2:73466864G>A	ENST00000258091.5	+	2	241	c.100G>A	c.(100-102)Gag>Aag	p.E34K	CCT7_ENST00000540468.1_Intron|CCT7_ENST00000539919.1_5'UTR|CCT7_ENST00000537131.1_5'UTR|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000538797.1_5'UTR|CCT7_ENST00000473786.1_Intron	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	34					'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)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GGTGATTGCTGAGGCTGTAAG	0.522																																						uc002siz.2		NaN																	0					0						c.(100-102)GAG>AAG		chaperonin containing TCP1, subunit 7 isoform a							55.0	56.0	55.0					2																	73466864		1940	4143	6083	SO:0001583	missense	10574				'de novo' posttranslational protein folding		ATP binding|unfolded protein binding	g.chr2:73466864G>A	AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"""Heat Shock Proteins / Chaperonins"""	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.100G>A	2.37:g.73466864G>A	ENSP00000258091:p.Glu34Lys					CCT7_uc002sja.2_Intron|CCT7_uc010yrf.1_5'UTR|CCT7_uc010feu.2_Missense_Mutation_p.E34K|CCT7_uc010yrg.1_5'UTR|CCT7_uc010yrh.1_5'UTR|CCT7_uc010yri.1_Intron	p.E34K	NM_006429	NP_006420	Q99832	TCPH_HUMAN			2	202	+			34					A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Missense_Mutation	SNP	ENST00000258091.5	37	c.100G>A	CCDS46336.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617007	0.66672	.	.	ENSG00000135624	ENST00000258091;ENST00000409081	T	0.78595	-1.19	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.80144	0.4569	M	0.79258	2.445	0.80722	D	1	B;B	0.16166	0.011;0.016	B;B	0.20577	0.023;0.03	T	0.77466	-0.2577	10	0.72032	D	0.01	-24.812	18.1168	0.89558	0.0:0.0:1.0:0.0	.	34;34	B8ZZC9;Q99832	.;TCPH_HUMAN	K	34	ENSP00000258091:E34K	ENSP00000258091:E34K	E	+	1	0	CCT7	73320372	1.000000	0.71417	0.959000	0.39883	0.979000	0.70002	9.557000	0.98129	2.941000	0.99782	0.655000	0.94253	GAG		0.522	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2				14	13	0	0	0	0.105934	0	14	13		
IL18R1	8809	broad.mit.edu	37	2	103013262	103013262	+	Silent	SNP	G	G	A	rs138611669		TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr2:103013262G>A	ENST00000409599.1	+	12	1898	c.1542G>A	c.(1540-1542)aaG>aaA	p.K514K	IL18R1_ENST00000233957.1_Silent_p.K514K			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	514	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)	p.K514K(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGTTCTGGAAGAACCTTCTTT	0.413																																						uc002tbw.3		NaN																	1	Substitution - coding silent(1)		breast(1)	ovary(2)|pancreas(1)	3						c.(1540-1542)AAG>AAA		interleukin 18 receptor 1 precursor							69.0	75.0	73.0					2																	103013262		2203	4299	6502	SO:0001819	synonymous_variant	8809				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	g.chr2:103013262G>A	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.1542G>A	2.37:g.103013262G>A						IL18R1_uc010ywc.1_Silent_p.K513K|IL18R1_uc010ywd.1_Silent_p.K358K|IL18R1_uc010fiy.2_Silent_p.K514K	p.K514K	NM_003855	NP_003846	Q13478	IL18R_HUMAN			11	1692	+			514			TIR.|Cytoplasmic (Potential).		B2R9Y5|Q52LC9	Silent	SNP	ENST00000409599.1	37	c.1542G>A	CCDS2060.1																																																																																				0.413	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2		NM_003855		29	52	0	0	0	0.125774	0	29	52		
MFSD9	84804	broad.mit.edu	37	2	103343352	103343352	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr2:103343352C>G	ENST00000258436.5	-	4	422	c.379G>C	c.(379-381)Gga>Cga	p.G127R		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	127					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GTGGCTGCTCCGAGAAGGAGA	0.483																																						uc002tcb.2		NaN																	0				ovary(2)|breast(2)	4						c.(379-381)GGA>CGA		major facilitator superfamily domain containing							75.0	74.0	74.0					2																	103343352		2203	4300	6503	SO:0001583	missense	84804				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr2:103343352C>G		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.379G>C	2.37:g.103343352C>G	ENSP00000258436:p.Gly127Arg					MFSD9_uc010fja.2_RNA	p.G127R	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN			4	447	-			127			Helical; (Potential).		Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	ENST00000258436.5	37	c.379G>C	CCDS2063.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964193	0.74131	.	.	ENSG00000135953	ENST00000258436	T	0.58797	0.31	5.34	5.34	0.76211	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.053822	0.85682	D	0.000000	T	0.80824	0.4697	M	0.92923	3.36	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.84916	0.0851	10	0.87932	D	0	-22.4908	13.6929	0.62559	0.0:0.9253:0.0:0.0747	.	127	Q8NBP5	MFSD9_HUMAN	R	127	ENSP00000258436:G127R	ENSP00000258436:G127R	G	-	1	0	MFSD9	102709784	1.000000	0.71417	0.090000	0.20809	0.684000	0.39900	5.597000	0.67577	2.663000	0.90544	0.655000	0.94253	GGA		0.483	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2		NM_032718		25	22	0	0	0	0.26419	0	25	22		
RGPD3	653489	broad.mit.edu	37	2	107084739	107084739	+	Silent	SNP	A	A	G	rs6718521	byFrequency	TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr2:107084739A>G	ENST00000409886.3	-	1	93	c.6T>C	c.(4-6)agT>agC	p.S2S	RGPD3_ENST00000304514.7_Silent_p.S2S	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	2					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCTTGCTGCAACTCATCGCGC	0.657													.|||	2209	0.441094	0.2088	0.4409	5008	,	,		12001	0.8313		0.2952	False		,,,				2504	0.5031					uc010ywi.1		NaN																	0				ovary(1)	1						c.(4-6)AGT>AGC		RANBP2-like and GRIP domain containing 3							65.0	93.0	84.0					2																	107084739		692	1591	2283	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107084739A>G		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.6T>C	2.37:g.107084739A>G							p.S2S	NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN			1	63	-			2					B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.6T>C	CCDS46379.1																																																																																				0.657	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1		XM_929931		2	4	0	0	0	0.115264	0	2	4		
GULP1	51454	broad.mit.edu	37	2	189449086	189449086	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr2:189449086A>G	ENST00000409580.1	+	11	1418	c.704A>G	c.(703-705)aAt>aGt	p.N235S	GULP1_ENST00000359135.3_Missense_Mutation_p.N235S|GULP1_ENST00000409805.1_Missense_Mutation_p.N132S|GULP1_ENST00000409609.1_Missense_Mutation_p.N235S|GULP1_ENST00000409830.1_Missense_Mutation_p.N235S|GULP1_ENST00000409843.1_Missense_Mutation_p.N235S			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	235					apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			CCTACTCGCAATGGCACACAG	0.408																																					Pancreas(178;563 2065 20199 42378 52815)	uc010fru.2		NaN																	0				ovary(1)	1						c.(703-705)AAT>AGT		GULP, engulfment adaptor PTB domain containing							180.0	152.0	161.0					2																	189449086		2203	4300	6503	SO:0001583	missense	51454				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity	g.chr2:189449086A>G	AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.704A>G	2.37:g.189449086A>G	ENSP00000386289:p.Asn235Ser					GULP1_uc002uqd.2_Missense_Mutation_p.N235S|GULP1_uc010zfw.1_Missense_Mutation_p.N132S|GULP1_uc002uqf.2_Missense_Mutation_p.N235S|GULP1_uc002uqg.2_Missense_Mutation_p.N235S|GULP1_uc002uqh.1_Missense_Mutation_p.N55S	p.N235S	NM_016315	NP_057399	Q9UBP9	GULP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)		10	1165	+			235					B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Missense_Mutation	SNP	ENST00000409580.1	37	c.704A>G	CCDS2295.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.28|19.28	3.796351|3.796351	0.70567|0.70567	.|.	.|.	ENSG00000144366|ENSG00000144366	ENST00000451191;ENST00000433052|ENST00000409843;ENST00000409830;ENST00000409805;ENST00000359135;ENST00000409580;ENST00000409609	.|T;T;T;T;T	.|0.49139	.|0.8;0.79;0.79;0.79;0.79	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.046970	.|0.85682	.|D	.|0.000000	T|T	0.62490|0.62490	0.2432|0.2432	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;P	.|0.89917	.|0.998;1.0;0.997;0.9	.|D;D;D;B	.|0.85130	.|0.915;0.997;0.985;0.344	T|T	0.57613|0.57613	-0.7781|-0.7781	5|10	.|0.14656	.|T	.|0.56	-12.9983|-12.9983	15.0091|15.0091	0.71536|0.71536	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|132;59;235;235	.|E9PB86;Q59EC1;Q9UBP9;B8ZZ72	.|.;.;GULP1_HUMAN;.	V|S	60;120|235;235;132;235;235;235	.|ENSP00000387144:N235S;ENSP00000386732:N235S;ENSP00000352047:N235S;ENSP00000386289:N235S;ENSP00000386867:N235S	.|ENSP00000352047:N235S	M|N	+|+	1|2	0|0	GULP1|GULP1	189157331|189157331	1.000000|1.000000	0.71417|0.71417	0.849000|0.849000	0.33467|0.33467	0.362000|0.362000	0.29581|0.29581	8.093000|8.093000	0.89531|0.89531	2.149000|2.149000	0.67028|0.67028	0.528000|0.528000	0.53228|0.53228	ATG|AAT		0.408	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335722.1		NM_016315		22	72	0	0	0	0.249174	0	22	72		
FN1	2335	broad.mit.edu	37	2	216249686	216249686	+	Silent	SNP	C	C	T	rs142628915	byFrequency	TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr2:216249686C>T	ENST00000359671.1	-	28	4618	c.4353G>A	c.(4351-4353)ccG>ccA	p.P1451P	FN1_ENST00000443816.1_Silent_p.P1451P|FN1_ENST00000490833.1_5'Flank|FN1_ENST00000446046.1_Silent_p.P1451P|FN1_ENST00000356005.4_Silent_p.P1451P|FN1_ENST00000357867.4_Silent_p.P1451P|FN1_ENST00000421182.1_Silent_p.P1451P|FN1_ENST00000354785.4_Silent_p.P1542P|FN1_ENST00000323926.6_Silent_p.P1542P|FN1_ENST00000336916.4_Silent_p.P1451P|FN1_ENST00000432072.2_Silent_p.P1542P|FN1_ENST00000346544.3_Silent_p.P1451P|FN1_ENST00000357009.2_Silent_p.P1451P|FN1_ENST00000345488.5_Silent_p.P1451P			P02751	FINC_HUMAN	fibronectin 1	1451	Cell-attachment.|Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CCAGGTCCCTCGGAACATCAG	0.418																																						uc002vfa.2		NaN																	0				central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(4624-4626)CCG>CCA		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	C	,,,,	0,4406		0,0,2203	54.0	55.0	55.0		4353,4353,4353,4353,4626	-12.0	0.1	2	dbSNP_134	55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FN1	NM_002026.2,NM_212474.1,NM_212476.1,NM_212478.1,NM_212482.1	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	1451/2356,1451/2177,1451/2297,1451/2331,1542/2478	216249686	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216249686C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.4353G>A	2.37:g.216249686C>T						FN1_uc002vfb.2_Silent_p.P1451P|FN1_uc002vfc.2_Silent_p.P1451P|FN1_uc002vfd.2_Silent_p.P1542P|FN1_uc002vfe.2_Silent_p.P1451P|FN1_uc002vff.2_Silent_p.P1451P|FN1_uc002vfg.2_Silent_p.P1451P|FN1_uc002vfh.2_Silent_p.P1451P|FN1_uc002vfi.2_Silent_p.P1542P|FN1_uc002vfj.2_Silent_p.P1542P|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Silent_p.P169P|FN1_uc010fvc.1_5'Flank|FN1_uc010fvd.1_5'Flank	p.P1542P	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	29	4892	-		Renal(323;0.127)	1545			Fibronectin type-III 11.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37	c.4626G>A																																																																																					0.418	FN1-204	KNOWN	basic	protein_coding	protein_coding			NM_212476		11	8	0	0	0	0.080935	0	11	8		
FARP2	9855	broad.mit.edu	37	2	242415381	242415381	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr2:242415381G>A	ENST00000264042.3	+	19	2411	c.2241G>A	c.(2239-2241)gaG>gaA	p.E747E	MIR3133_ENST00000583157.1_RNA	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	747					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TGGGCATAGAGAACCTCATTG	0.483																																						uc002wbi.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(2239-2241)GAG>GAA		FERM, RhoGEF and pleckstrin domain protein 2							97.0	84.0	88.0					2																	242415381		2203	4300	6503	SO:0001819	synonymous_variant	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242415381G>A	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.2241G>A	2.37:g.242415381G>A						hsa-mir-3133|MI0014153_5'Flank	p.E747E	NM_014808	NP_055623	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	19	2358	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	747					B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	ENST00000264042.3	37	c.2241G>A	CCDS33424.1																																																																																				0.483	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1				5	1	0	0	0	0.217242	0	5	1		
TGM3	7053	broad.mit.edu	37	20	2312720	2312720	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr20:2312720C>T	ENST00000381458.5	+	10	1469	c.1406C>T	c.(1405-1407)aCg>aTg	p.T469M		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	469					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TTTGCCGCGACGTCTTCAATG	0.517																																						uc002wfx.3		NaN																	0				large_intestine(4)|ovary(3)|breast(1)|skin(1)	9						c.(1405-1407)ACG>ATG		transglutaminase 3 precursor	L-Glutamine(DB00130)						76.0	66.0	69.0					20																	2312720		2203	4300	6503	SO:0001583	missense	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2312720C>T	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1406C>T	20.37:g.2312720C>T	ENSP00000370867:p.Thr469Met						p.T469M	NM_003245	NP_003236	Q08188	TGM3_HUMAN			10	1503	+			469					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	c.1406C>T	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663745	0.47572	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	T	0.79141	-1.24	5.14	5.14	0.70334	.	0.316398	0.31989	N	0.006754	T	0.80237	0.4586	L	0.47716	1.5	0.35618	D	0.809161	D	0.89917	1.0	P	0.60117	0.869	T	0.83349	-0.0004	10	0.46703	T	0.11	0.0048	9.5121	0.39082	0.0:0.9067:0.0:0.0933	.	469	Q08188	TGM3_HUMAN	M	469	ENSP00000370867:T469M	ENSP00000370867:T469M	T	+	2	0	TGM3	2260720	0.653000	0.27358	0.209000	0.23619	0.002000	0.02628	2.714000	0.47202	2.681000	0.91329	0.655000	0.94253	ACG		0.517	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2		NM_003245		35	37	0	0	0	0.173368	0	35	37		
ASXL1	171023	broad.mit.edu	37	20	31021691	31021691	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr20:31021691A>T	ENST00000375687.4	+	12	2114	c.1690A>T	c.(1690-1692)Aaa>Taa	p.K564*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.K559*	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	564	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						ACAGCCCACTAAAGAGGAGCC	0.527			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2		NaN		Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		0				haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(1690-1692)AAA>TAA		additional sex combs like 1 isoform 1							57.0	63.0	61.0					20																	31021691		2203	4300	6503	SO:0001587	stop_gained	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31021691A>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1690A>T	20.37:g.31021691A>T	ENSP00000364839:p.Lys564*					ASXL1_uc010geb.2_Nonsense_Mutation_p.K455*	p.K564*	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			11	2116	+			564					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Nonsense_Mutation	SNP	ENST00000375687.4	37	c.1690A>T	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	A	41	8.533589	0.98852	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	.	.	.	5.02	5.02	0.67125	.	0.098664	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7801	15.207	0.73186	1.0:0.0:0.0:0.0	.	.	.	.	X	564;564;564;503;559	.	ENSP00000305119:K559X	K	+	1	0	ASXL1	30485352	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.675000	0.68123	2.243000	0.73865	0.533000	0.62120	AAA		0.527	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2		NM_015338		46	78	0	0	0	0.139131	0	46	78		
SLC35C2	51006	broad.mit.edu	37	20	44979476	44979476	+	Silent	SNP	G	G	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr20:44979476G>T	ENST00000372227.1	-	9	1431	c.891C>A	c.(889-891)ctC>ctA	p.L297L	SLC35C2_ENST00000317734.8_Silent_p.L276L|SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000372229.1_Silent_p.L164L|SLC35C2_ENST00000243896.2_Silent_p.L297L|SLC35C2_ENST00000543605.1_Silent_p.L326L|SLC35C2_ENST00000372230.5_Silent_p.L297L	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	297					negative regulation of gene expression (GO:0010629)|positive regulation of Notch signaling pathway (GO:0045747)|protein O-linked fucosylation (GO:0036066)|transport (GO:0006810)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				GCCAGTTCAGGAGGCTGATCT	0.577																																						uc002xro.2		NaN																	0				ovary(1)	1						c.(889-891)CTC>CTA		solute carrier family 35, member C2 isoform a							62.0	62.0	62.0					20																	44979476		2203	4300	6503	SO:0001819	synonymous_variant	51006				transport	integral to membrane		g.chr20:44979476G>T		CCDS13396.1, CCDS13397.1, CCDS63292.1	20q13.12	2013-07-17	2013-07-17	2003-10-10	ENSG00000080189	ENSG00000080189		"""Solute carriers"""	17117	protein-coding gene	gene with protein product			"""ovarian cancer overexpressed 1"", ""solute carrier family 35, member C2"""	C20orf5, OVCOV1		10810093, 11549316	Standard	NM_173179		Approved	CGI-15, bA394O2.1	uc002xrq.3	Q9NQQ7	OTTHUMG00000033050	ENST00000372227.1:c.891C>A	20.37:g.44979476G>T						SLC35C2_uc002xrp.2_Silent_p.L276L|SLC35C2_uc002xrq.2_Silent_p.L297L|SLC35C2_uc002xrr.2_Silent_p.L297L|SLC35C2_uc010zxn.1_Silent_p.L162L|SLC35C2_uc010zxo.1_Silent_p.L183L|SLC35C2_uc010zxp.1_Silent_p.L326L	p.L297L	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN			9	1432	-		Myeloproliferative disorder(115;0.0122)	297			Helical; (Potential).		B7Z6V6|E1P5T0|Q53GK3|Q5JW05|Q96CJ8|Q9Y304	Silent	SNP	ENST00000372227.1	37	c.891C>A	CCDS13396.1																																																																																				0.577	SLC35C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080363.1		NM_015945		16	67	1	0	2.23348e-06	0.146539	2.29265e-06	16	67		
TSPEAR	54084	broad.mit.edu	37	21	45945598	45945598	+	Missense_Mutation	SNP	C	C	T	rs587714285		TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr21:45945598C>T	ENST00000323084.4	-	8	1339	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q	TSPEAR_ENST00000397916.1_Missense_Mutation_p.R357Q|C21orf90_ENST00000465978.1_Intron	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	425					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CTCCCAGTCTCGGGCGCTGTG	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		20142	0.001		0.0	False		,,,				2504	0.0					uc002zfe.1		NaN																	0					0						c.(1273-1275)CGA>CAA		chromosome 21 open reading frame 29 precursor							153.0	152.0	152.0					21																	45945598		2203	4300	6503	SO:0001583	missense	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45945598C>T	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1274G>A	21.37:g.45945598C>T	ENSP00000321987:p.Arg425Gln					C21orf29_uc010gpv.1_Missense_Mutation_p.R357Q	p.R425Q	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN			8	1340	-			425			EAR 3.			Missense_Mutation	SNP	ENST00000323084.4	37	c.1274G>A	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432781	0.83776	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000397916;ENST00000341581	T;T	0.80994	-1.44;-1.44	4.32	4.32	0.51571	.	0.119927	0.53938	D	0.000043	D	0.85120	0.5624	L	0.52573	1.65	0.80722	D	1	D	0.57571	0.98	P	0.59643	0.861	D	0.86096	0.1553	10	0.49607	T	0.09	-17.4755	17.1973	0.86897	0.0:1.0:0.0:0.0	.	425	Q8WU66	TSEAR_HUMAN	Q	425;278;357;426	ENSP00000321987:R425Q;ENSP00000381012:R357Q	ENSP00000321987:R425Q	R	-	2	0	TSPEAR	44770026	0.998000	0.40836	1.000000	0.80357	0.755000	0.42902	4.256000	0.58810	2.130000	0.65690	0.491000	0.48974	CGA		0.572	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1		NM_144991		54	87	0	0	0	0.139131	0	54	87		
DAZL	1618	broad.mit.edu	37	3	16636050	16636050	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:16636050A>G	ENST00000399444.2	-	8	904	c.611T>C	c.(610-612)gTt>gCt	p.V204A	DAZL_ENST00000250863.8_Missense_Mutation_p.V224A	NM_001351.3	NP_001342.2	Q92904	DAZL_HUMAN	deleted in azoospermia-like	204					female meiosis II (GO:0007147)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|oocyte maturation (GO:0001556)|positive regulation of meiosis (GO:0045836)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						CGGAGGTACAACATAGCTCCT	0.299																																						uc003cbb.2		NaN																	0					0						c.(610-612)GTT>GCT		deleted in azoospermia-like							41.0	44.0	43.0					3																	16636050		2131	4268	6399	SO:0001583	missense	1618				germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding|translation activator activity	g.chr3:16636050A>G	BC027595	CCDS43059.1, CCDS54556.1	3p24	2013-02-12			ENSG00000092345	ENSG00000092345		"""RNA binding motif (RRM) containing"""	2685	protein-coding gene	gene with protein product		601486		DAZLA		8896558	Standard	NM_001351		Approved	DAZH, SPGYLA, MGC26406, DAZL1	uc003cbb.3	Q92904	OTTHUMG00000157050	ENST00000399444.2:c.611T>C	3.37:g.16636050A>G	ENSP00000382373:p.Val204Ala					DAZL_uc003cba.2_Missense_Mutation_p.V224A	p.V204A	NM_001351	NP_001342	Q92904	DAZL_HUMAN			8	905	-			204					O15396|Q5HYB4|Q92909	Missense_Mutation	SNP	ENST00000399444.2	37	c.611T>C	CCDS43059.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.292608	0.40594	.	.	ENSG00000092345	ENST00000250863;ENST00000399444	T;T	0.22945	1.94;1.93	6.02	6.02	0.97574	.	0.349963	0.31963	N	0.006783	T	0.24275	0.0588	L	0.50333	1.59	0.80722	D	1	B;B	0.23377	0.007;0.084	B;B	0.14578	0.011;0.011	T	0.05869	-1.0859	10	0.15499	T	0.54	-9.134	15.1131	0.72375	1.0:0.0:0.0:0.0	.	204;224	Q92904;Q5HYB4	DAZL_HUMAN;.	A	224;204	ENSP00000250863:V224A;ENSP00000382373:V204A	ENSP00000250863:V224A	V	-	2	0	DAZL	16611054	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.705000	0.68355	2.304000	0.77564	0.528000	0.53228	GTT		0.299	DAZL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347261.2		NM_001351		10	10	0	0	0	0.058154	0	10	10		
KCNH8	131096	broad.mit.edu	37	3	19384094	19384094	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:19384094G>T	ENST00000328405.2	+	4	724	c.458G>T	c.(457-459)aGa>aTa	p.R153I		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	153					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GTCAAAGGAAGATCAAGAGCA	0.448																																					NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1		NaN																	0				lung(4)|ovary(1)	5						c.(457-459)AGA>ATA		potassium voltage-gated channel, subfamily H,							80.0	77.0	78.0					3																	19384094		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19384094G>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.458G>T	3.37:g.19384094G>T	ENSP00000328813:p.Arg153Ile					KCNH8_uc011awe.1_Missense_Mutation_p.R153I|KCNH8_uc010hex.1_5'UTR	p.R153I	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			4	653	+			153			Cytoplasmic (Potential).		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.458G>T	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335141	0.81801	.	.	ENSG00000183960	ENST00000328405	D	0.98777	-5.13	5.76	5.76	0.90799	.	0.000000	0.34362	U	0.004022	D	0.98432	0.9478	L	0.55990	1.75	0.80722	D	1	B;P	0.49961	0.048;0.93	B;P	0.54460	0.04;0.753	D	0.98408	1.0571	9	.	.	.	.	19.9607	0.97248	0.0:0.0:1.0:0.0	.	153;153	B7Z398;Q96L42	.;KCNH8_HUMAN	I	153	ENSP00000328813:R153I	.	R	+	2	0	KCNH8	19359098	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.689000	0.46993	2.713000	0.92767	0.585000	0.79938	AGA		0.448	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2		NM_144633		26	33	1	0	2.79863e-10	0.099896	2.99164e-10	26	33		
CCR4	1233	broad.mit.edu	37	3	32995542	32995542	+	Missense_Mutation	SNP	G	G	A	rs550719572		TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:32995542G>A	ENST00000330953.5	+	2	796	c.628G>A	c.(628-630)Gga>Aga	p.G210R		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	210					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						CAACATTCTCGGATTGGTGAT	0.458													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23504	0.0		0.0	False		,,,				2504	0.0					uc003cfg.1		NaN																	0				lung(1)	1						c.(628-630)GGA>AGA		chemokine (C-C motif) receptor 4							143.0	129.0	134.0					3																	32995542		2203	4300	6503	SO:0001583	missense	1233				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		g.chr3:32995542G>A	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.628G>A	3.37:g.32995542G>A	ENSP00000332659:p.Gly210Arg						p.G210R	NM_005508	NP_005499	P51679	CCR4_HUMAN			2	796	+			210			Helical; Name=5; (Potential).		Q9ULY6|Q9ULY7	Missense_Mutation	SNP	ENST00000330953.5	37	c.628G>A	CCDS2656.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492806	0.64074	.	.	ENSG00000183813	ENST00000330953	T	0.73575	-0.76	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000012	D	0.90484	0.7019	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91964	0.5581	10	0.87932	D	0	.	19.9882	0.97356	0.0:0.0:1.0:0.0	.	210	P51679	CCR4_HUMAN	R	210	ENSP00000332659:G210R	ENSP00000332659:G210R	G	+	1	0	CCR4	32970546	1.000000	0.71417	0.192000	0.23308	0.146000	0.21551	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	GGA		0.458	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2				51	68	0	0	0	0.139131	0	51	68		
BSN	8927	broad.mit.edu	37	3	49692105	49692105	+	Missense_Mutation	SNP	C	C	T	rs141249428	byFrequency	TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:49692105C>T	ENST00000296452.4	+	5	5230	c.5116C>T	c.(5116-5118)Cgg>Tgg	p.R1706W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1706					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AATCCCAGGACGGCAGTCGAC	0.587																																						uc003cxe.3		NaN																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(5116-5118)CGG>TGG		bassoon protein							117.0	110.0	113.0					3																	49692105		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49692105C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.5116C>T	3.37:g.49692105C>T	ENSP00000296452:p.Arg1706Trp						p.R1706W	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	5230	+			1706					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.5116C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	8.297	0.819117	0.16607	.	.	ENSG00000164061	ENST00000296452	T	0.35605	1.3	5.16	3.33	0.38152	.	0.062767	0.64402	D	0.000005	T	0.55721	0.1938	M	0.77313	2.365	0.58432	D	0.999996	D	0.89917	1.0	D	0.67103	0.949	T	0.55711	-0.8098	10	0.59425	D	0.04	.	9.5304	0.39191	0.143:0.7829:0.0:0.0741	.	1706	Q9UPA5	BSN_HUMAN	W	1706	ENSP00000296452:R1706W	ENSP00000296452:R1706W	R	+	1	2	BSN	49667109	0.957000	0.32711	0.992000	0.48379	0.986000	0.74619	2.211000	0.42825	0.553000	0.29044	0.561000	0.74099	CGG		0.587	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1		NM_003458		42	72	0	0	0	0.246493	0	42	72		
ITIH1	3697	broad.mit.edu	37	3	52813598	52813598	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:52813598G>A	ENST00000273283.2	+	5	585	c.561G>A	c.(559-561)gtG>gtA	p.V187V	ITIH1_ENST00000542827.1_Silent_p.V187V|ITIH1_ENST00000540715.1_Silent_p.V45V|ITIH1_ENST00000537050.1_5'Flank	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	187					hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		AGCAGCTGGTGCATCATTTTG	0.532																																						uc003dfs.2		NaN																	0				ovary(3)	3						c.(559-561)GTG>GTA		inter-alpha (globulin) inhibitor H1							108.0	100.0	103.0					3																	52813598		2203	4300	6503	SO:0001819	synonymous_variant	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52813598G>A		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.561G>A	3.37:g.52813598G>A						ITIH1_uc010hmn.1_RNA	p.V187V	NM_002215	NP_002206	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	5	585	+			187					A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	ENST00000273283.2	37	c.561G>A	CCDS2864.1																																																																																				0.532	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1		NM_002215		38	31	0	0	0	0.235728	0	38	31		
SLMAP	7871	broad.mit.edu	37	3	57850350	57850350	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:57850350G>T	ENST00000428312.1	+	10	1136	c.1042G>T	c.(1042-1044)Gaa>Taa	p.E348*	SLMAP_ENST00000295951.3_Nonsense_Mutation_p.E348*|SLMAP_ENST00000449503.2_Nonsense_Mutation_p.E348*|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000295952.3_Nonsense_Mutation_p.E348*|SLMAP_ENST00000383718.3_Nonsense_Mutation_p.E348*			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	348					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		TAAAATAGATGAAATGGAAGA	0.353																																						uc003dje.1		NaN																	0					0						c.(1042-1044)GAA>TAA		sarcolemma associated protein							87.0	91.0	90.0					3																	57850350		2203	4300	6503	SO:0001587	stop_gained	7871				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	g.chr3:57850350G>T	AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.1042G>T	3.37:g.57850350G>T	ENSP00000398661:p.Glu348*					SLMAP_uc003djc.1_Nonsense_Mutation_p.E348*|SLMAP_uc003djd.1_Nonsense_Mutation_p.E348*|SLMAP_uc003djf.1_Nonsense_Mutation_p.E348*|SLMAP_uc003djg.1_5'UTR	p.E348*	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)	10	1247	+			348			Potential.|Cytoplasmic (Potential).		Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Nonsense_Mutation	SNP	ENST00000428312.1	37	c.1042G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.314546|7.314546	0.98207|0.98207	.|.	.|.	ENSG00000163681|ENSG00000163681	ENST00000295951;ENST00000295952;ENST00000383718;ENST00000428312;ENST00000449503;ENST00000465203|ENST00000416658	.|.	.|.	.|.	5.4|5.4	4.52|4.52	0.55395|0.55395	.|.	0.049734|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.41790|.	T|.	0.15|.	-5.2242|-5.2242	15.4161|15.4161	0.74970|0.74970	0.0:0.0:0.8596:0.1404|0.0:0.0:0.8596:0.1404	.|.	.|.	.|.	.|.	X|L	348;348;348;348;348;55|13	.|.	ENSP00000295951:E348X|.	E|X	+|+	1|2	0|2	SLMAP|SLMAP	57825390|57825390	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.150000|9.150000	0.94667|0.94667	1.249000|1.249000	0.43950|0.43950	0.557000|0.557000	0.71058|0.71058	GAA|TGA		0.353	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1		NM_007159		44	51	1	0	1.32136e-16	0.268233	1.43224e-16	44	51		
PLXND1	23129	broad.mit.edu	37	3	129324823	129324823	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:129324823G>A	ENST00000324093.4	-	1	838	c.660C>T	c.(658-660)ttC>ttT	p.F220F	PLXND1_ENST00000393239.1_Silent_p.F220F	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	220	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGCGCGGGAAGAAGGAGCTGC	0.711																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2		NaN																	0				large_intestine(1)	1						c.(658-660)TTC>TTT		plexin D1 precursor							17.0	19.0	18.0					3																	129324823		2201	4296	6497	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129324823G>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.660C>T	3.37:g.129324823G>A							p.F220F	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			1	760	-			220			Extracellular (Potential).|Sema.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.660C>T	CCDS33854.1																																																																																				0.711	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4		NM_015103		12	16	0	0	0	0.09319	0	12	16		
KLHL24	54800	broad.mit.edu	37	3	183368873	183368873	+	Silent	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:183368873G>C	ENST00000454652.2	+	4	1115	c.729G>C	c.(727-729)ctG>ctC	p.L243L	KLHL24_ENST00000476808.1_Silent_p.L243L|KLHL24_ENST00000242810.6_Silent_p.L243L	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	243	BACK.					cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CCGTTGATCTGAGAAGACCAC	0.423																																						uc003flv.2		NaN																	0				ovary(1)	1						c.(727-729)CTG>CTC		DRE1 protein							137.0	129.0	132.0					3																	183368873		2203	4300	6503	SO:0001819	synonymous_variant	54800					axon|cytoplasm|perikaryon		g.chr3:183368873G>C		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.729G>C	3.37:g.183368873G>C						KLHL24_uc003flw.2_Silent_p.L243L|KLHL24_uc003flx.2_Silent_p.L243L	p.L243L	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		3	1024	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		243			BACK.		A5PLN8|Q9H620|Q9NXT9	Silent	SNP	ENST00000454652.2	37	c.729G>C	CCDS3246.1																																																																																				0.423	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2		NM_017644		30	38	0	0	0	0.116897	0	30	38		
KLHL24	54800	broad.mit.edu	37	3	183368878	183368878	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:183368878G>A	ENST00000454652.2	+	4	1120	c.734G>A	c.(733-735)aGa>aAa	p.R245K	KLHL24_ENST00000476808.1_Missense_Mutation_p.R245K|KLHL24_ENST00000242810.6_Missense_Mutation_p.R245K	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	245	BACK.					cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GATCTGAGAAGACCACTGTTA	0.423																																						uc003flv.2		NaN																	0				ovary(1)	1						c.(733-735)AGA>AAA		DRE1 protein							136.0	128.0	131.0					3																	183368878		2203	4300	6503	SO:0001583	missense	54800					axon|cytoplasm|perikaryon		g.chr3:183368878G>A		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.734G>A	3.37:g.183368878G>A	ENSP00000395012:p.Arg245Lys					KLHL24_uc003flw.2_Missense_Mutation_p.R245K|KLHL24_uc003flx.2_Missense_Mutation_p.R245K	p.R245K	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		3	1029	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		245			BACK.		A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	37	c.734G>A	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642267	0.29157	.	.	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	T;T;T	0.66815	-0.23;-0.23;-0.23	5.09	5.09	0.68999	BTB/Kelch-associated (2);	0.041188	0.85682	D	0.000000	T	0.48696	0.1514	N	0.13299	0.325	0.54753	D	0.999982	B;B	0.02656	0.0;0.0	B;B	0.09377	0.001;0.004	T	0.47761	-0.9092	10	0.07175	T	0.84	.	18.5002	0.90878	0.0:0.0:1.0:0.0	.	245;245	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	K	245	ENSP00000242810:R245K;ENSP00000395012:R245K;ENSP00000419010:R245K	ENSP00000242810:R245K	R	+	2	0	KLHL24	184851572	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.383000	0.59600	2.361000	0.80049	0.460000	0.39030	AGA		0.423	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2		NM_017644		27	35	0	0	0	0.294199	0	27	35		
KLHL24	54800	broad.mit.edu	37	3	183369003	183369003	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr3:183369003G>A	ENST00000454652.2	+	4	1245	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	KLHL24_ENST00000476808.1_Missense_Mutation_p.E287K|KLHL24_ENST00000242810.6_Missense_Mutation_p.E287K	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	287						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GTTGTTGCATGAAGCAAGACG	0.418																																						uc003flv.2		NaN																	0				ovary(1)	1						c.(859-861)GAA>AAA		DRE1 protein							69.0	67.0	67.0					3																	183369003		2203	4300	6503	SO:0001583	missense	54800					axon|cytoplasm|perikaryon		g.chr3:183369003G>A		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.859G>A	3.37:g.183369003G>A	ENSP00000395012:p.Glu287Lys					KLHL24_uc003flw.2_Missense_Mutation_p.E287K|KLHL24_uc003flx.2_Missense_Mutation_p.E287K	p.E287K	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		3	1154	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		287					A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	37	c.859G>A	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585094	0.86748	.	.	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	T;T;T	0.72505	-0.66;-0.66;-0.59	4.69	4.69	0.59074	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.88618	0.6485	H	0.94222	3.51	0.80722	D	1	D;P	0.67145	0.996;0.947	D;P	0.75484	0.986;0.78	D	0.92188	0.5757	10	0.87932	D	0	.	17.9835	0.89148	0.0:0.0:1.0:0.0	.	287;287	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	K	287	ENSP00000242810:E287K;ENSP00000395012:E287K;ENSP00000419010:E287K	ENSP00000242810:E287K	E	+	1	0	KLHL24	184851697	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.420000	0.97426	2.304000	0.77564	0.460000	0.39030	GAA		0.418	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2		NM_017644		19	24	0	0	0	0.249174	0	19	24		
ARAP2	116984	broad.mit.edu	37	4	36130168	36130168	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr4:36130168C>T	ENST00000303965.4	-	21	4116	c.3627G>A	c.(3625-3627)tgG>tgA	p.W1209*		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1209	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AAGCAGAGATCCAATATGGGT	0.383																																						uc003gsq.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(3625-3627)TGG>TGA		ArfGAP with RhoGAP domain, ankyrin repeat and PH							83.0	80.0	81.0					4																	36130168		2203	4300	6503	SO:0001587	stop_gained	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36130168C>T	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3627G>A	4.37:g.36130168C>T	ENSP00000302895:p.Trp1209*						p.W1209*	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			21	3965	-			1209			Rho-GAP.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Nonsense_Mutation	SNP	ENST00000303965.4	37	c.3627G>A	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	47	13.483137	0.99745	.	.	ENSG00000047365	ENST00000303965	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7363	0.96205	0.0:1.0:0.0:0.0	.	.	.	.	X	1209	.	ENSP00000302895:W1209X	W	-	3	0	ARAP2	35806563	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.384000	0.79751	2.652000	0.90054	0.650000	0.86243	TGG		0.383	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2		NM_015230		22	37	0	0	0	0.234183	0	22	37		
WDR19	57728	broad.mit.edu	37	4	39233498	39233498	+	Silent	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr4:39233498C>T	ENST00000399820.3	+	18	2218	c.2064C>T	c.(2062-2064)caC>caT	p.H688H	WDR19_ENST00000288634.7_Silent_p.H528H|WDR19_ENST00000515631.1_3'UTR	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	688					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						GTCTACATCACATGGAAGTGG	0.413																																						uc003gtv.2		NaN																	0				large_intestine(1)	1						c.(2062-2064)CAC>CAT		WD repeat domain 19							159.0	154.0	156.0					4																	39233498		1942	4150	6092	SO:0001819	synonymous_variant	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39233498C>T	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.2064C>T	4.37:g.39233498C>T						WDR19_uc011byi.1_Silent_p.H528H|WDR19_uc003gtw.1_Silent_p.H285H	p.H688H	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN			18	2218	+			688					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Silent	SNP	ENST00000399820.3	37	c.2064C>T	CCDS47042.1																																																																																				0.413	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1				29	48	0	0	0	0.125774	0	29	48		
COX7B2	170712	broad.mit.edu	37	4	46737171	46737171	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr4:46737171G>A	ENST00000396533.1	-	4	289	c.39C>T	c.(37-39)ctC>ctT	p.L13L	COX7B2_ENST00000543208.1_Silent_p.L12L|COX7B2_ENST00000355591.3_Silent_p.L13L|COX7B2_ENST00000302930.5_Silent_p.L13L			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	13						integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			large_intestine(1)|lung(4)	5						TTTGAATCTTGAGACTGCTTA	0.423																																						uc003gxf.2		NaN																	0					0						c.(37-39)CTC>CTT		cytochrome c oxidase subunit VIIb2 precursor							137.0	121.0	127.0					4																	46737171		2203	4300	6503	SO:0001819	synonymous_variant	170712					integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr4:46737171G>A	AF125109	CCDS3472.2	4p12	2011-07-04			ENSG00000170516	ENSG00000170516		"""Mitochondrial respiratory chain complex / Complex IV"""	24381	protein-coding gene	gene with protein product		609811				15623157	Standard	NM_130902		Approved		uc003gxf.3	Q8TF08	OTTHUMG00000099423	ENST00000396533.1:c.39C>T	4.37:g.46737171G>A						COX7B2_uc010ige.2_RNA	p.L13L	NM_130902	NP_570972	Q8TF08	CX7B2_HUMAN			3	219	-			13					Q32Q40	Silent	SNP	ENST00000396533.1	37	c.39C>T	CCDS3472.2																																																																																				0.423	COX7B2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313899.1		NM_130902		38	61	0	0	0	0.203993	0	38	61		
FRYL	285527	broad.mit.edu	37	4	48549632	48549632	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr4:48549632T>A	ENST00000503238.1	-	38	5042	c.5043A>T	c.(5041-5043)aaA>aaT	p.K1681N	FRYL_ENST00000358350.4_Missense_Mutation_p.K1681N|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.K1681N			O94915	FRYL_HUMAN	FRY-like	1681					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GTGCAACTTGTTTGACTGTAA	0.343																																						uc003gyh.1		NaN																	0				skin(1)	1						c.(5041-5043)AAA>AAT		furry-like							74.0	69.0	71.0					4																	48549632		1857	4098	5955	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48549632T>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.5043A>T	4.37:g.48549632T>A	ENSP00000426064:p.Lys1681Asn					FRYL_uc003gyg.1_Missense_Mutation_p.K377N|FRYL_uc003gyi.1_Missense_Mutation_p.K570N|FRYL_uc003gyj.1_5'Flank	p.K1681N	NM_015030	NP_055845	O94915	FRYL_HUMAN			41	5648	-			1681					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.5043A>T	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.21|14.21	2.466437|2.466437	0.43839|0.43839	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810|ENST00000514617	T;T;T|.	0.24723|.	1.84;1.84;1.84|.	5.39|5.39	2.78|2.78	0.32641|0.32641	Armadillo-type fold (1);|.	0.096823|.	0.64402|.	N|.	0.000001|.	T|T	0.58004|0.58004	0.2092|0.2092	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	P;B;P|.	0.43477|.	0.808;0.159;0.71|.	B;B;P|.	0.51777|.	0.299;0.196;0.679|.	T|T	0.51116|0.51116	-0.8746|-0.8746	10|5	0.25106|.	T|.	0.35|.	.|.	5.5155|5.5155	0.16904|0.16904	0.1295:0.1547:0.0:0.7157|0.1295:0.1547:0.0:0.7157	.|.	512;1681;1681|.	Q6ZR29;O94915;F5GX82|.	.;FRYL_HUMAN;.|.	N|S	1681|552	ENSP00000426064:K1681N;ENSP00000351113:K1681N;ENSP00000441114:K1681N|.	ENSP00000351113:K1681N|.	K|T	-|-	3|1	2|0	FRYL|FRYL	48244389|48244389	0.999000|0.999000	0.42202|0.42202	0.958000|0.958000	0.39756|0.39756	0.578000|0.578000	0.36192|0.36192	0.523000|0.523000	0.22925|0.22925	0.289000|0.289000	0.22422|0.22422	0.383000|0.383000	0.25322|0.25322	AAA|ACA		0.343	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2				28	21	0	0	0	0.134883	0	28	21		
RXFP1	59350	broad.mit.edu	37	4	159547979	159547979	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr4:159547979G>C	ENST00000307765.5	+	10	1014	c.763G>C	c.(763-765)Gaa>Caa	p.E255Q	RXFP1_ENST00000460056.2_Missense_Mutation_p.E174Q|RXFP1_ENST00000448688.2_Intron|RXFP1_ENST00000470033.1_Missense_Mutation_p.E222Q|RXFP1_ENST00000343542.5_Missense_Mutation_p.E255Q	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	255					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CAGGGACCTTGAAGGCAACCA	0.264																																						uc003ipz.2		NaN																	0					0						c.(763-765)GAA>CAA		relaxin/insulin-like family peptide receptor 1							105.0	93.0	97.0					4																	159547979		1790	4045	5835	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159547979G>C	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.763G>C	4.37:g.159547979G>C	ENSP00000303248:p.Glu255Gln					RXFP1_uc010iqj.1_Missense_Mutation_p.E84Q|RXFP1_uc011cja.1_Intron|RXFP1_uc010iqo.2_Missense_Mutation_p.E255Q|RXFP1_uc011cjb.1_Missense_Mutation_p.E201Q|RXFP1_uc010iqk.2_Missense_Mutation_p.E123Q|RXFP1_uc011cjc.1_Missense_Mutation_p.E174Q|RXFP1_uc011cjd.1_Missense_Mutation_p.E174Q|RXFP1_uc010iql.2_Intron|RXFP1_uc011cje.1_Missense_Mutation_p.E282Q|RXFP1_uc010iqm.2_Missense_Mutation_p.E222Q|RXFP1_uc011cjf.1_Missense_Mutation_p.E125Q|RXFP1_uc010iqn.2_Missense_Mutation_p.E201Q	p.E255Q	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	10	845	+	all_hematologic(180;0.24)	Renal(120;0.0854)	255			Extracellular (Potential).|LRR 5.		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.763G>C	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.927955	0.73327	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000343542;ENST00000470033;ENST00000440678	T;T;D;T	0.83755	3.63;0.43;-1.76;0.43	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.84479	0.5481	N	0.21545	0.675	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.97;0.986;1.0;1.0	D;D;D;P;P;D;D	0.85130	0.997;0.992;0.986;0.771;0.897;0.993;0.997	T	0.81773	-0.0779	10	0.23302	T	0.38	.	16.1396	0.81513	0.0:0.0:1.0:0.0	.	266;282;255;222;125;192;255	B3KV27;B4DGP2;Q9HBX9-4;Q9HBX9-2;Q59H16;Q4W5D9;Q9HBX9	.;.;.;.;.;.;RXFP1_HUMAN	Q	174;255;255;222;125	ENSP00000423306:E174Q;ENSP00000303248:E255Q;ENSP00000345889:E255Q;ENSP00000420712:E222Q	ENSP00000303248:E255Q	E	+	1	0	RXFP1	159767429	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.774000	0.68906	2.603000	0.88011	0.557000	0.71058	GAA		0.264	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1		NM_021634		18	21	0	0	0	0.234183	0	18	21		
PLEKHG4B	153478	broad.mit.edu	37	5	163407	163407	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr5:163407C>G	ENST00000283426.6	+	11	2202	c.2152C>G	c.(2152-2154)Cat>Gat	p.H718D		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	718							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCCCAGGAAACATCCCCAGAA	0.607																																						uc003jak.2		NaN																	0				skin(2)	2						c.(2152-2154)CAT>GAT		pleckstrin homology domain containing, family G							54.0	68.0	63.0					5																	163407		2202	4300	6502	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:163407C>G	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2152C>G	5.37:g.163407C>G	ENSP00000283426:p.His718Asp						p.H718D	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	11	2202	+			718						Missense_Mutation	SNP	ENST00000283426.6	37	c.2152C>G	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.003511	0.35320	.	.	ENSG00000153404	ENST00000283426	T	0.30182	1.54	3.13	2.25	0.28309	.	.	.	.	.	T	0.19725	0.0474	L	0.27053	0.805	0.26929	N	0.966508	P	0.52842	0.956	B	0.44224	0.444	T	0.08785	-1.0705	9	0.18710	T	0.47	.	6.31	0.21159	0.0:0.8502:0.0:0.1498	.	718	Q96PX9	PKH4B_HUMAN	D	718	ENSP00000283426:H718D	ENSP00000283426:H718D	H	+	1	0	PLEKHG4B	216407	1.000000	0.71417	0.012000	0.15200	0.270000	0.26580	4.160000	0.58164	0.302000	0.22762	0.460000	0.39030	CAT		0.607	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1		NM_052909		67	82	0	0	0	0.139131	0	67	82		
EGFLAM	133584	broad.mit.edu	37	5	38370443	38370443	+	Silent	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr5:38370443G>A	ENST00000354891.3	+	6	937	c.591G>A	c.(589-591)caG>caA	p.Q197Q	EGFLAM_ENST00000322350.5_Silent_p.Q197Q	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	197	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AGCGGATCCAGATGGACTCCA	0.507																																					Colon(62;485 1295 3347 17454)	uc003jlc.1		NaN																	0				pancreas(3)|skin(3)|ovary(1)	7						c.(589-591)CAG>CAA		EGF-like, fibronectin type III and laminin G							98.0	92.0	94.0					5																	38370443		2203	4300	6503	SO:0001819	synonymous_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38370443G>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.591G>A	5.37:g.38370443G>A						EGFLAM_uc003jlb.1_Silent_p.Q197Q	p.Q197Q	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			6	915	+	all_lung(31;0.000385)		197			Fibronectin type-III 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	c.591G>A	CCDS56363.1																																																																																				0.507	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1		NM_152403		40	61	0	0	0	0.235728	0	40	61		
PAIP1	10605	broad.mit.edu	37	5	43547922	43547922	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr5:43547922C>G	ENST00000306846.3	-	3	761	c.529G>C	c.(529-531)Gaa>Caa	p.E177Q	PAIP1_ENST00000514514.1_Missense_Mutation_p.E98Q|PAIP1_ENST00000338972.4_Missense_Mutation_p.E65Q|PAIP1_ENST00000436644.2_Missense_Mutation_p.E98Q	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	177	MIF4G.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					ATTTCAGTTTCAAAACTGCCA	0.398																																						uc003job.2		NaN																	0				ovary(1)	1						c.(529-531)GAA>CAA		poly(A) binding protein interacting protein 1							81.0	81.0	81.0					5																	43547922		2203	4300	6503	SO:0001583	missense	10605				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity	g.chr5:43547922C>G	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.529G>C	5.37:g.43547922C>G	ENSP00000302768:p.Glu177Gln					PAIP1_uc003joa.2_Missense_Mutation_p.E98Q|PAIP1_uc010ivp.2_Missense_Mutation_p.E98Q|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.E65Q	p.E177Q	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN			3	776	-	Lung NSC(6;2.07e-05)		177			MIF4G.		A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	ENST00000306846.3	37	c.529G>C	CCDS3947.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530909	0.85706	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000338972;ENST00000514514;ENST00000511321;ENST00000508537;ENST00000515338	T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82	5.59	5.59	0.84812	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.106392	0.64402	D	0.000006	T	0.41259	0.1151	L	0.34521	1.04	0.58432	D	0.999992	P;D;D	0.76494	0.866;0.999;0.995	B;D;D	0.69654	0.44;0.965;0.916	T	0.05566	-1.0877	10	0.33940	T	0.23	-12.0069	19.592	0.95518	0.0:1.0:0.0:0.0	.	98;177;98	D6REB4;Q9H074;Q9H074-2	.;PAIP1_HUMAN;.	Q	177;98;65;98;65;65;65	ENSP00000302768:E177Q;ENSP00000387729:E98Q;ENSP00000339622:E65Q;ENSP00000425084:E98Q;ENSP00000425675:E65Q;ENSP00000425736:E65Q	ENSP00000302768:E177Q	E	-	1	0	PAIP1	43583679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.431000	0.73395	2.628000	0.89032	0.655000	0.94253	GAA		0.398	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1		NM_006451		43	55	0	0	0	0.268233	0	43	55		
KCNN2	3781	broad.mit.edu	37	5	113698898	113698898	+	Silent	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr5:113698898C>T	ENST00000512097.3	+	2	1444	c.426C>T	c.(424-426)ggC>ggT	p.G142G	KCNN2_ENST00000264773.3_Silent_p.G142G|KCNN2_ENST00000507750.1_3'UTR			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	142					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	TCATCTTCGGCATGTTCGGCA	0.612																																						uc003kqo.2		NaN																	0				ovary(2)	2						c.(424-426)GGC>GGT		small conductance calcium-activated potassium							34.0	34.0	34.0					5																	113698898		2202	4300	6502	SO:0001819	synonymous_variant	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113698898C>T	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.426C>T	5.37:g.113698898C>T							p.G142G	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	1	883	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	142			Helical; Name=Segment S1; (Potential).		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Silent	SNP	ENST00000512097.3	37	c.426C>T	CCDS4114.1																																																																																				0.612	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2		NM_021614		35	2	0	0	0	0.173368	0	35	2		
FAM193B	54540	broad.mit.edu	37	5	176958345	176958345	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr5:176958345C>T	ENST00000329540.5	-	8	2920	c.91G>A	c.(91-93)Gag>Aag	p.E31K	FAM193B_ENST00000514747.1_Intron|FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000443375.2_Missense_Mutation_p.E372K			Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	485						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						ACTTTGGGCTCCGTGCTGTTG	0.657																																						uc003mhs.3		NaN																	0					0						c.(1114-1116)GAG>AAG		hypothetical protein LOC54540							30.0	31.0	31.0					5																	176958345		1899	4106	6005	SO:0001583	missense	54540							g.chr5:176958345C>T		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000329540.5:c.91G>A	5.37:g.176958345C>T	ENSP00000332014:p.Glu31Lys					FAM193B_uc003mht.2_Missense_Mutation_p.E31K|FAM193B_uc003mhu.2_Intron|FAM193B_uc003mhv.2_Missense_Mutation_p.E31K|FAM193B_uc003mhw.2_RNA	p.E372K	NM_019057	NP_061930	E9PET5	E9PET5_HUMAN			7	2703	-			391					E9PET5|Q9NW00	Missense_Mutation	SNP	ENST00000329540.5	37	c.1114G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.629837|5.629837	0.96671|0.96671	.|.	.|.	ENSG00000146067|ENSG00000146067	ENST00000443375;ENST00000329540|ENST00000524677	T;T|.	0.61742|.	0.6;0.08|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	.|.	.|.	.|.	.|.	T|T	0.74366|0.74366	0.3707|0.3707	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.997|.	T|T	0.73924|0.73924	-0.3829|-0.3829	8|4	0.87932|.	D|.	0|.	-8.0294|-8.0294	18.457|18.457	0.90724|0.90724	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	31;372|.	E7ER81;E9PEZ8|.	.;.|.	K|E	372;31|90	ENSP00000410098:E372K;ENSP00000332014:E31K|.	ENSP00000332014:E31K|.	E|G	-|-	1|2	0|0	FAM193B|FAM193B	176890951|176890951	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.818000|7.818000	0.86416|0.86416	2.347000|2.347000	0.79759|0.79759	0.563000|0.563000	0.77884|0.77884	GAG|GGA		0.657	FAM193B-201	KNOWN	basic	protein_coding	protein_coding			NM_019057		5	0	0	0	0	0.184627	0	5	0		
RING1	6015	broad.mit.edu	37	6	33179090	33179090	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr6:33179090G>T	ENST00000374656.4	+	5	819	c.611G>T	c.(610-612)cGt>cTt	p.R204L	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	204	Necessary for transcriptional repression. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						AAGCGACCCCGTGGAGGGGGC	0.711																																						uc003odk.2		NaN																	0				ovary(1)|skin(1)	2						c.(610-612)CGT>CTT		ring finger protein 1							16.0	21.0	19.0					6																	33179090		1479	2626	4105	SO:0001583	missense	6015				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding	g.chr6:33179090G>T		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.611G>T	6.37:g.33179090G>T	ENSP00000363787:p.Arg204Leu					RING1_uc011dqx.1_Missense_Mutation_p.R204L|RING1_uc003odl.2_Missense_Mutation_p.R175L	p.R204L	NM_002931	NP_002922	Q06587	RING1_HUMAN			5	805	+			204			Necessary for transcriptional repression (By similarity).|Nuclear localization signal (Potential).		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Missense_Mutation	SNP	ENST00000374656.4	37	c.611G>T	CCDS34424.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601529	0.46423	.	.	ENSG00000204227	ENST00000374656	D	0.84223	-1.82	4.33	4.33	0.51752	.	0.183072	0.36409	N	0.002606	T	0.58177	0.2104	N	0.08118	0	0.47009	D	0.999282	P	0.48764	0.915	B	0.38056	0.264	T	0.70817	-0.4769	10	0.54805	T	0.06	-14.6906	12.2091	0.54369	0.0:0.0:1.0:0.0	.	204	Q06587	RING1_HUMAN	L	204	ENSP00000363787:R204L	ENSP00000363787:R204L	R	+	2	0	RING1	33287068	0.932000	0.31603	0.996000	0.52242	0.991000	0.79684	1.866000	0.39489	2.229000	0.72834	0.478000	0.44815	CGT		0.711	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2				21	38	1	0	4.54149e-19	0.249174	4.99241e-19	21	38		
CDKN1A	1026	broad.mit.edu	37	6	36651906	36651906	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr6:36651906C>T	ENST00000405375.1	+	2	263	c.28C>T	c.(28-30)Cag>Tag	p.Q10*	CDKN1A_ENST00000448526.2_Nonsense_Mutation_p.Q44*|CDKN1A_ENST00000373711.2_Nonsense_Mutation_p.Q10*|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000244741.5_Nonsense_Mutation_p.Q10*	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	10					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GGATGTCCGTCAGAACCCATG	0.637																																						uc003omm.3		NaN																	0				ovary(1)|breast(1)	2						c.(28-30)CAG>TAG		cyclin-dependent kinase inhibitor 1A							28.0	29.0	29.0					6																	36651906		2203	4299	6502	SO:0001587	stop_gained	1026	Multiple_Endocrine_Neoplasia_type_1			cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	g.chr6:36651906C>T	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.28C>T	6.37:g.36651906C>T	ENSP00000384849:p.Gln10*					CDKN1A_uc011dtq.1_Nonsense_Mutation_p.Q44*|CDKN1A_uc003oml.2_Nonsense_Mutation_p.Q10*|CDKN1A_uc003omn.2_Nonsense_Mutation_p.Q10*	p.Q10*	NM_000389	NP_000380	P38936	CDN1A_HUMAN			2	150	+			10					Q14010|Q6FI05|Q9BUT4	Nonsense_Mutation	SNP	ENST00000405375.1	37	c.28C>T	CCDS4824.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943187	0.73672	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	.	.	.	5.06	5.06	0.68205	.	1.016560	0.07867	N	0.967237	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3973	13.8081	0.63246	0.0:1.0:0.0:0.0	.	.	.	.	X	44;10;10;10	.	ENSP00000244741:Q10X	Q	+	1	0	CDKN1A	36759884	0.068000	0.21057	0.005000	0.12908	0.009000	0.06853	4.620000	0.61226	2.642000	0.89623	0.561000	0.74099	CAG		0.637	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1		NM_078467		21	15	0	0	0	0.26419	0	21	15		
CCND3	896	broad.mit.edu	37	6	41909293	41909293	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNASeq			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr6:41909293A>C	ENST00000372991.4	-	1	293	c.95T>G	c.(94-96)cTc>cGc	p.L32R	CCND3_ENST00000510503.1_Intron|CCND3_ENST00000511686.1_Intron|CCND3_ENST00000511642.1_Intron|CCND3_ENST00000414200.2_Missense_Mutation_p.L32R|CCND3_ENST00000372988.4_Intron|CCND3_ENST00000415497.2_Intron|CCND3_ENST00000372987.4_5'Flank	NM_001760.3	NP_001751.1	P30281	CCND3_HUMAN	cyclin D3	32	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTCCAGGCGGAGCAGGCTCTG	0.692			T	IGH@	MM																																	uc003orn.2		NaN		Dom	yes		6	6p21	896	T	cyclin D3			L	IGH@		MM		0					0						c.(94-96)CTC>CGC		cyclin D3 isoform 2							14.0	14.0	14.0					6																	41909293		2193	4296	6489	SO:0001583	missense	896				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr6:41909293A>C		CCDS4863.1, CCDS47425.1, CCDS47426.1, CCDS47427.1, CCDS75452.1	6p21	2008-08-26			ENSG00000112576	ENSG00000112576			1585	protein-coding gene	gene with protein product		123834				1386335	Standard	NM_001136125		Approved		uc003orn.3	P30281	OTTHUMG00000014690	ENST00000372991.4:c.95T>G	6.37:g.41909293A>C	ENSP00000362082:p.Leu32Arg					CCND3_uc003orp.2_Intron|CCND3_uc011duk.1_Intron|CCND3_uc011dum.1_Intron|CCND3_uc003orm.2_5'Flank|CCND3_uc003oro.2_Missense_Mutation_p.L32R|CCND3_uc011dul.1_Missense_Mutation_p.L32R	p.L32R	NM_001760	NP_001751	P30281	CCND3_HUMAN	Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		1	260	-	Colorectal(47;0.121)		32			Cyclin N-terminal.		B2RD63|B3KQ22|E9PAS4|E9PB36|Q5T8J0|Q6FG62|Q96F49	Missense_Mutation	SNP	ENST00000372991.4	37	c.95T>G	CCDS4863.1	.	.	.	.	.	.	.	.	.	.	a	21.3	4.121823	0.77436	.	.	ENSG00000112576	ENST00000372991;ENST00000414200	T;T	0.45276	2.24;0.9	3.15	3.15	0.36227	Cyclin, N-terminal (1);Cyclin-like (1);	0.409063	0.17566	U	0.169631	T	0.42743	0.1216	L	0.52206	1.635	0.80722	D	1	D;P;D	0.89917	0.997;0.59;1.0	D;B;D	0.91635	0.991;0.159;0.999	T	0.22626	-1.0211	10	0.28530	T	0.3	.	10.5858	0.45282	1.0:0.0:0.0:0.0	.	32;32;32	B4DRB9;E9PAS4;P30281	.;.;CCND3_HUMAN	R	32	ENSP00000362082:L32R;ENSP00000397545:L32R	ENSP00000362082:L32R	L	-	2	0	CCND3	42017271	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	8.316000	0.89985	1.416000	0.47057	0.260000	0.18958	CTC		0.692	CCND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040540.2		NM_001760		7	4	0	0	0	0.248553	0	7	4		
MAD2L1BP	9587	broad.mit.edu	37	6	43608115	43608115	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr6:43608115G>C	ENST00000372171.4	+	3	727	c.670G>C	c.(670-672)Gat>Cat	p.D224H	MAD2L1BP_ENST00000451025.2_Missense_Mutation_p.D256H	NM_014628.2	NP_055443.1	Q15013	MD2BP_HUMAN	MAD2L1 binding protein	224					mitotic cell cycle checkpoint (GO:0007093)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(3)	5	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CTGTGGAGAAGATTGGTTTCG	0.567																																						uc003ovv.2		NaN																	0					0						c.(670-672)GAT>CAT		MAD2L1 binding protein isoform 2							52.0	45.0	48.0					6																	43608115		2203	4300	6503	SO:0001583	missense	9587				mitotic cell cycle checkpoint|regulation of exit from mitosis	cytoplasm|nucleus|spindle	protein binding	g.chr6:43608115G>C	BC002904	CCDS4904.1, CCDS47431.1	6p21.1	2003-06-23			ENSG00000124688	ENSG00000124688			21059	protein-coding gene	gene with protein product						7788527, 12456649	Standard	NM_014628		Approved	CMT2, KIAA0110, dJ261G23.1	uc003ovu.3	Q15013	OTTHUMG00000014747	ENST00000372171.4:c.670G>C	6.37:g.43608115G>C	ENSP00000361244:p.Asp224His					MAD2L1BP_uc003ovu.2_Missense_Mutation_p.D256H	p.D224H	NM_014628	NP_055443	Q15013	MD2BP_HUMAN	all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		3	706	+	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		224					B4DLV3|E9PAT7|Q6IBB1	Missense_Mutation	SNP	ENST00000372171.4	37	c.670G>C	CCDS4904.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361826	0.82353	.	.	ENSG00000124688	ENST00000451025;ENST00000372171	T	0.48201	0.82	5.09	5.09	0.68999	.	0.463780	0.24314	N	0.039604	T	0.45418	0.1341	L	0.29908	0.895	0.47659	D	0.999483	D;D	0.67145	0.992;0.996	P;D	0.64237	0.89;0.923	T	0.35574	-0.9783	10	0.35671	T	0.21	-29.6077	16.7112	0.85386	0.0:0.0:1.0:0.0	.	224;256	Q15013;E9PAT7	MD2BP_HUMAN;.	H	256;224	ENSP00000410818:D256H	ENSP00000361244:D224H	D	+	1	0	MAD2L1BP	43716093	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.515000	0.81761	2.365000	0.80145	0.555000	0.69702	GAT		0.567	MAD2L1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040692.2		NM_014628		34	25	0	0	0	0.163468	0	34	25		
TNFRSF21	27242	broad.mit.edu	37	6	47200581	47200581	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr6:47200581C>G	ENST00000296861.2	-	6	2281	c.1888G>C	c.(1888-1890)Gaa>Caa	p.E630Q		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	630					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)		p.E630K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CCAATAATTTCGAATAGCCGG	0.493																																						uc003oyv.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(1888-1890)GAA>CAA		tumor necrosis factor receptor superfamily,							109.0	120.0	116.0					6																	47200581		2203	4300	6503	SO:0001583	missense	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47200581C>G	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1888G>C	6.37:g.47200581C>G	ENSP00000296861:p.Glu630Gln						p.E630Q	NM_014452	NP_055267	O75509	TNR21_HUMAN	Lung(136;0.189)		6	2321	-			630			Cytoplasmic (Potential).		B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	c.1888G>C	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571766	0.86542	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	T	0.70282	-0.47	5.95	5.95	0.96441	.	0.045975	0.85682	D	0.000000	T	0.68016	0.2955	L	0.27053	0.805	0.80722	D	1	D	0.60160	0.987	P	0.57283	0.817	T	0.72323	-0.4328	10	0.87932	D	0	.	18.5737	0.91147	0.0:1.0:0.0:0.0	.	630	O75509	TNR21_HUMAN	Q	630;319	ENSP00000296861:E630Q	ENSP00000296861:E630Q	E	-	1	0	TNFRSF21	47308540	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	GAA		0.493	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1		NM_014452		68	108	0	0	0	0.139131	0	68	108		
DNAH11	8701	broad.mit.edu	37	7	21818711	21818711	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr7:21818711G>C	ENST00000409508.3	+	57	9503	c.9472G>C	c.(9472-9474)Gag>Cag	p.E3158Q	DNAH11_ENST00000328843.6_Missense_Mutation_p.E3165Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3165	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CGCTGATGCTGAGGAGCGAAA	0.463									Kartagener syndrome																													uc003svc.2		NaN																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(9493-9495)GAG>CAG		dynein, axonemal, heavy chain 11							60.0	58.0	59.0					7																	21818711		1902	4134	6036	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21818711G>C	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.9472G>C	7.37:g.21818711G>C	ENSP00000475939:p.Glu3158Gln						p.E3165Q	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			58	9524	+			3165			Stalk (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.9493G>C		.	.	.	.	.	.	.	.	.	.	G	18.49	3.636347	0.67130	.	.	ENSG00000105877	ENST00000328843	T	0.80304	-1.36	6.03	6.03	0.97812	Dynein heavy chain, coiled coil stalk (1);	0.269298	0.41097	D	0.000950	D	0.90758	0.7099	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89874	0.4025	9	0.52906	T	0.07	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	3165	Q96DT5	DYH11_HUMAN	Q	3165	ENSP00000330671:E3165Q	ENSP00000330671:E3165Q	E	+	1	0	DNAH11	21785236	1.000000	0.71417	0.970000	0.41538	0.347000	0.29111	9.476000	0.97823	2.861000	0.98227	0.655000	0.94253	GAG		0.463	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		NM_003777		12	11	0	0	0	0.09319	0	12	11		
ZNF479	90827	broad.mit.edu	37	7	57188745	57188745	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr7:57188745T>C	ENST00000331162.4	-	5	647	c.377A>G	c.(376-378)aAa>aGa	p.K126R		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ACAGCATTTTTTAAATTGTAA	0.368																																						uc010kzo.2		NaN																	0				ovary(3)|skin(1)	4						c.(376-378)AAA>AGA		zinc finger protein 479							84.0	78.0	80.0					7																	57188745		1841	4096	5937	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188745T>C	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.377A>G	7.37:g.57188745T>C	ENSP00000333776:p.Lys126Arg						p.K126R	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	648	-			126						Missense_Mutation	SNP	ENST00000331162.4	37	c.377A>G	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	t	0.013	-1.609614	0.00842	.	.	ENSG00000185177	ENST00000331162	T	0.06687	3.27	1.6	-3.21	0.05140	.	.	.	.	.	T	0.02807	0.0084	N	0.10972	0.075	0.09310	N	1	P	0.48407	0.91	B	0.42462	0.388	T	0.17684	-1.0361	9	0.02654	T	1	.	2.4754	0.04575	0.0:0.2186:0.283:0.4985	.	126	Q96JC4	ZN479_HUMAN	R	126	ENSP00000333776:K126R	ENSP00000333776:K126R	K	-	2	0	ZNF479	57192687	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.144000	0.10280	-1.050000	0.03230	-0.548000	0.04221	AAA		0.368	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1		XM_291202		10	105	0	0	0	0.09319	0	10	105		
LIMK1	3984	broad.mit.edu	37	7	73535372	73535372	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr7:73535372G>A	ENST00000336180.2	+	15	1825	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K	LIMK1_ENST00000538333.3_Missense_Mutation_p.E558K|LIMK1_ENST00000418310.1_Missense_Mutation_p.E622K	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	592	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	TCTGGACCCCGAGAAGAGGTG	0.672																																						uc003uaa.1		NaN																	0				stomach(2)|ovary(1)	3						c.(1774-1776)GAG>AAG		LIM domain kinase 1							74.0	81.0	78.0					7																	73535372		2203	4300	6503	SO:0001583	missense	3984				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	g.chr7:73535372G>A	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.1774G>A	7.37:g.73535372G>A	ENSP00000336740:p.Glu592Lys					RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Missense_Mutation_p.E558K	p.E592K	NM_002314	NP_002305	P53667	LIMK1_HUMAN			15	1939	+		Lung NSC(55;0.137)	592			Protein kinase.		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	ENST00000336180.2	37	c.1774G>A	CCDS5563.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.890092	0.72524	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000538333	D;D;D	0.83250	-1.7;-1.7;-1.7	5.11	5.11	0.69529	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052469	0.85682	D	0.000000	T	0.66107	0.2756	N	0.05351	-0.065	0.80722	D	1	P;P	0.42010	0.608;0.768	B;B	0.34242	0.095;0.178	T	0.70256	-0.4922	10	0.32370	T	0.25	-36.6546	16.095	0.81114	0.0:0.0:1.0:0.0	.	558;592	B7Z6I8;P53667	.;LIMK1_HUMAN	K	622;592;592;558	ENSP00000409717:E622K;ENSP00000336740:E592K;ENSP00000444452:E558K	ENSP00000336740:E592K	E	+	1	0	LIMK1	73173308	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.270000	0.95690	2.404000	0.81709	0.558000	0.71614	GAG		0.672	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2		NM_002314		51	76	0	0	0	0.139131	0	51	76		
CFTR	1080	broad.mit.edu	37	7	117232105	117232105	+	Silent	SNP	G	G	A	rs121908777		TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr7:117232105G>A	ENST00000003084.6	+	14	2016	c.1884G>A	c.(1882-1884)ggG>ggA	p.G628G	CFTR_ENST00000454343.1_Silent_p.G567G	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	628	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		G -> R (in CF).		cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	ATTTTTATGGGACATTTTCAG	0.343									Cystic Fibrosis																													uc003vjd.2		NaN																	0				central_nervous_system(2)|skin(2)|ovary(1)	5						c.(1882-1884)GGG>GGA		cystic fibrosis transmembrane conductance	Bumetanide(DB00887)|Glibenclamide(DB01016)						64.0	69.0	68.0					7																	117232105		2203	4300	6503	SO:0001819	synonymous_variant	1080	Cystic_Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117232105G>A	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1884G>A	7.37:g.117232105G>A						CFTR_uc011knq.1_Silent_p.G34G	p.G628G	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		14	2016	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		628		G -> R (in CF).	Cytoplasmic (Potential).|ABC transporter 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Silent	SNP	ENST00000003084.6	37	c.1884G>A	CCDS5773.1																																																																																				0.343	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3		NM_000492		48	62	0	0	0	0.139131	0	48	62		
TACC1	6867	broad.mit.edu	37	8	38677716	38677716	+	Silent	SNP	C	C	G	rs61734982	byFrequency	TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr8:38677716C>G	ENST00000317827.4	+	3	1333	c.954C>G	c.(952-954)ctC>ctG	p.L318L	TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000379931.3_Silent_p.L318L|TACC1_ENST00000519416.1_Silent_p.L123L|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520340.1_Silent_p.L282L|TACC1_ENST00000443286.2_Silent_p.L334L|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520973.1_Silent_p.L123L|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520615.1_Silent_p.L123L|TACC1_ENST00000518415.1_Silent_p.L273L	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	318	Interaction with YEATS4.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			GCTCACCTCTCAAGCTTGAGT	0.527																																						uc010lwp.2		NaN																	0				ovary(1)	1						c.(952-954)CTC>CTG		transforming, acidic coiled-coil containing							52.0	58.0	56.0					8																	38677716		2203	4300	6503	SO:0001819	synonymous_variant	6867				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	g.chr8:38677716C>G	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.954C>G	8.37:g.38677716C>G						TACC1_uc011lby.1_Silent_p.L123L|TACC1_uc003xma.2_Intron|TACC1_uc003xlz.2_Silent_p.L123L|TACC1_uc003xmc.3_Silent_p.L123L|TACC1_uc011lbz.1_Silent_p.L334L|TACC1_uc003xmb.3_Silent_p.L273L|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.3_Intron|TACC1_uc011lca.1_Silent_p.L318L|TACC1_uc011lcb.1_Silent_p.L123L|TACC1_uc011lcc.1_Silent_p.L123L|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Silent_p.L123L|TACC1_uc010lwq.2_Silent_p.L123L	p.L318L	NM_006283	NP_006274	O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		3	1333	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	318			Interaction with YEATS4.		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Silent	SNP	ENST00000317827.4	37	c.954C>G	CCDS6109.1	.	.	.	.	.	.	.	.	.	.	C	1.305	-0.603806	0.03717	.	.	ENSG00000147526	ENST00000521866	.	.	.	5.41	1.48	0.22813	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.9369	8.5401	0.33388	0.1664:0.3174:0.5161:0.0	.	.	.	.	X	93	.	.	S	+	2	0	TACC1	38796873	0.004000	0.15560	0.599000	0.28851	0.197000	0.23852	0.094000	0.15107	-0.015000	0.14150	-0.300000	0.09419	TCA		0.527	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1		NM_006283		47	43	0	0	0	0.301197	0	47	43		
DCAF4L2	138009	broad.mit.edu	37	8	88886086	88886086	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr8:88886086T>A	ENST00000319675.3	-	1	210	c.114A>T	c.(112-114)agA>agT	p.R38S		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	38										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AGTTGGCGAATCTGAGGAAAC	0.522																																						uc003ydz.2		NaN																	0				ovary(1)	1						c.(112-114)AGA>AGT		WD repeat domain 21C							91.0	82.0	85.0					8																	88886086		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88886086T>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.114A>T	8.37:g.88886086T>A	ENSP00000316496:p.Arg38Ser						p.R38S	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	211	-			38						Missense_Mutation	SNP	ENST00000319675.3	37	c.114A>T	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	T	0.823	-0.748095	0.03065	.	.	ENSG00000176566	ENST00000319675	T	0.59502	0.26	2.23	-4.47	0.03525	WD40 repeat-like-containing domain (1);	0.501385	0.21885	N	0.067669	T	0.17023	0.0409	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24154	-1.0168	10	0.09084	T	0.74	.	0.8012	0.01075	0.2387:0.1802:0.3805:0.2006	.	38	Q8NA75	DC4L2_HUMAN	S	38	ENSP00000316496:R38S	ENSP00000316496:R38S	R	-	3	2	DCAF4L2	88955202	0.078000	0.21339	0.000000	0.03702	0.012000	0.07955	-0.141000	0.10327	-1.923000	0.01065	-0.691000	0.03719	AGA		0.522	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1		NM_152418		15	58	0	0	0	0.132662	0	15	58		
MPDZ	8777	broad.mit.edu	37	9	13137991	13137991	+	Missense_Mutation	SNP	C	C	T	rs369300827		TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr9:13137991C>T	ENST00000319217.7	-	29	4412	c.4165G>A	c.(4165-4167)Gat>Aat	p.D1389N	MPDZ_ENST00000541718.1_Missense_Mutation_p.D1389N|MPDZ_ENST00000536827.1_Missense_Mutation_p.D1356N|MPDZ_ENST00000541093.1_5'Flank|MPDZ_ENST00000381015.4_Missense_Mutation_p.D1389N|MPDZ_ENST00000447879.1_Missense_Mutation_p.D1356N|MPDZ_ENST00000538841.1_Missense_Mutation_p.D248N|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000546205.1_Missense_Mutation_p.D1403N|MPDZ_ENST00000381022.2_Missense_Mutation_p.D1389N	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1389	PDZ 8. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AATCGACCATCTTTTCCTGCA	0.408																																						uc010mia.1		NaN																	0				ovary(5)|central_nervous_system(1)	6						c.(4165-4167)GAT>AAT		multiple PDZ domain protein							108.0	99.0	102.0					9																	13137991		1862	4109	5971	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13137991C>T	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.4165G>A	9.37:g.13137991C>T	ENSP00000320006:p.Asp1389Asn					MPDZ_uc003zky.3_5'Flank|MPDZ_uc010mib.2_Missense_Mutation_p.D94N|MPDZ_uc010mhx.2_Missense_Mutation_p.D211N|MPDZ_uc011lmm.1_Missense_Mutation_p.D248N|MPDZ_uc003zkz.3_Missense_Mutation_p.D82N|MPDZ_uc010mhy.2_Missense_Mutation_p.D1389N|MPDZ_uc010mhz.2_Missense_Mutation_p.D1356N|MPDZ_uc011lmn.1_Missense_Mutation_p.D1356N|MPDZ_uc003zlb.3_Missense_Mutation_p.D1389N	p.D1389N	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	28	4222	-			1389			PDZ 8.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.4165G>A		.	.	.	.	.	.	.	.	.	.	C	25.8	4.671488	0.88348	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.72	5.72	0.89469	.	0.000000	0.48286	D	0.000182	T	0.54515	0.1863	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.998;0.999;0.999;0.999;0.999	T	0.45644	-0.9247	10	0.41790	T	0.15	.	19.8765	0.96875	0.0:1.0:0.0:0.0	.	1356;248;94;1356;1269;1389	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2	.;.;.;.;.;.	N	1389;1389;1389;325;248;1356;1356;1389;1269;1403	ENSP00000320006:D1389N;ENSP00000439807:D1389N;ENSP00000370410:D1389N;ENSP00000444230:D325N;ENSP00000444717:D248N;ENSP00000444151:D1356N;ENSP00000415208:D1356N;ENSP00000370403:D1389N;ENSP00000446358:D1403N	ENSP00000320006:D1389N	D	-	1	0	MPDZ	13127991	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	7.786000	0.85741	2.695000	0.91970	0.650000	0.86243	GAT		0.408	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2		NM_003829		31	19	0	0	0	0.144211	0	31	19		
MPDZ	8777	broad.mit.edu	37	9	13137996	13137996	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr9:13137996C>T	ENST00000319217.7	-	29	4407	c.4160G>A	c.(4159-4161)gGa>gAa	p.G1387E	MPDZ_ENST00000541718.1_Missense_Mutation_p.G1387E|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1354E|MPDZ_ENST00000541093.1_5'Flank|MPDZ_ENST00000381015.4_Missense_Mutation_p.G1387E|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1354E|MPDZ_ENST00000538841.1_Missense_Mutation_p.G246E|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1401E|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1387E	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1387	PDZ 8. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ACCATCTTTTCCTGCAGCTCC	0.408																																						uc010mia.1		NaN																	0				ovary(5)|central_nervous_system(1)	6						c.(4159-4161)GGA>GAA		multiple PDZ domain protein							108.0	98.0	101.0					9																	13137996		1862	4110	5972	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13137996C>T	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.4160G>A	9.37:g.13137996C>T	ENSP00000320006:p.Gly1387Glu					MPDZ_uc003zky.3_5'Flank|MPDZ_uc010mib.2_Missense_Mutation_p.G92E|MPDZ_uc010mhx.2_Missense_Mutation_p.G209E|MPDZ_uc011lmm.1_Missense_Mutation_p.G246E|MPDZ_uc003zkz.3_Missense_Mutation_p.G80E|MPDZ_uc010mhy.2_Missense_Mutation_p.G1387E|MPDZ_uc010mhz.2_Missense_Mutation_p.G1354E|MPDZ_uc011lmn.1_Missense_Mutation_p.G1354E|MPDZ_uc003zlb.3_Missense_Mutation_p.G1387E	p.G1387E	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	28	4217	-			1387			PDZ 8.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.4160G>A		.	.	.	.	.	.	.	.	.	.	C	19.85	3.903471	0.72754	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.72	5.72	0.89469	.	0.000000	0.47455	D	0.000235	T	0.29423	0.0733	N	0.05383	-0.06	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.967;1.0;1.0;1.0	D;D;P;D;D;D	0.97110	1.0;0.995;0.897;1.0;1.0;1.0	T	0.31752	-0.9932	10	0.36615	T	0.2	.	19.8765	0.96875	0.0:1.0:0.0:0.0	.	1354;246;92;1354;1267;1387	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2	.;.;.;.;.;.	E	1387;1387;1387;323;246;1354;1354;1387;1267;1401	ENSP00000320006:G1387E;ENSP00000439807:G1387E;ENSP00000370410:G1387E;ENSP00000444230:G323E;ENSP00000444717:G246E;ENSP00000444151:G1354E;ENSP00000415208:G1354E;ENSP00000370403:G1387E;ENSP00000446358:G1401E	ENSP00000320006:G1387E	G	-	2	0	MPDZ	13127996	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	4.787000	0.62432	2.695000	0.91970	0.650000	0.86243	GGA		0.408	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2		NM_003829		30	21	0	0	0	0.116897	0	30	21		
IFNA14	3448	broad.mit.edu	37	9	21239749	21239749	+	Silent	SNP	G	G	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr9:21239749G>T	ENST00000380222.2	-	1	229	c.186C>A	c.(184-186)ccC>ccA	p.P62P		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	62					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ATTCCTCCTGGGGAAATTCAA	0.473																																						uc010mis.2		NaN																	0					0						c.(184-186)CCC>CCA		interferon, alpha 14 precursor							116.0	118.0	117.0					9																	21239749		2203	4300	6503	SO:0001819	synonymous_variant	3448				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21239749G>T		CCDS6501.1	9p22	2010-08-24			ENSG00000228083	ENSG00000228083		"""Interferons"""	5420	protein-coding gene	gene with protein product		147579				1385305	Standard	NM_002172		Approved	LEIF2H, IFN-alphaH	uc010mis.3	P01570	OTTHUMG00000019665	ENST00000380222.2:c.186C>A	9.37:g.21239749G>T						IFNA14_uc003zoo.1_RNA	p.P62P	NM_002172	NP_002163	P01570	IFN14_HUMAN		Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	230	-			62					Q5VZ56|Q7M4S1	Silent	SNP	ENST00000380222.2	37	c.186C>A	CCDS6501.1																																																																																				0.473	IFNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051894.1		NM_002172		67	173	1	0	3.07184e-27	0.139131	3.42543e-27	67	173		
RUSC2	9853	broad.mit.edu	37	9	35560350	35560350	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr9:35560350G>A	ENST00000455600.1	+	10	4282	c.3713G>A	c.(3712-3714)gGa>gAa	p.G1238E	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1238						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TCagaaggtggagaagaggaa	0.706																																						uc003zww.2		NaN																	0				ovary(1)	1						c.(3712-3714)GGA>GAA		RUN and SH3 domain containing 2							18.0	22.0	20.0					9																	35560350		2195	4278	6473	SO:0001583	missense	9853					cytosol		g.chr9:35560350G>A	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.3713G>A	9.37:g.35560350G>A	ENSP00000393922:p.Gly1238Glu					RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.G1238E	p.G1238E	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		10	3968	+			1238					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.3713G>A	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452737	0.26074	.	.	ENSG00000198853	ENST00000361226;ENST00000455600	T;T	0.26067	1.76;1.76	5.41	3.57	0.40892	.	0.282212	0.40064	N	0.001187	T	0.10766	0.0263	N	0.11560	0.145	0.39870	D	0.973493	B	0.33857	0.429	B	0.24269	0.052	T	0.20505	-1.0273	10	0.17369	T	0.5	-1.4953	10.575	0.45223	0.1561:0.0:0.8439:0.0	.	1238	Q8N2Y8	RUSC2_HUMAN	E	1238	ENSP00000355177:G1238E;ENSP00000393922:G1238E	ENSP00000355177:G1238E	G	+	2	0	RUSC2	35550350	0.971000	0.33674	1.000000	0.80357	0.936000	0.57629	2.085000	0.41634	1.284000	0.44531	-0.258000	0.10820	GGA		0.706	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1		XM_048462		9	18	0	0	0	0.058154	0	9	18		
SMC2	10592	broad.mit.edu	37	9	106880491	106880491	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr9:106880491G>A	ENST00000286398.7	+	15	2119	c.1831G>A	c.(1831-1833)Gaa>Aaa	p.E611K	SMC2_ENST00000303219.8_Missense_Mutation_p.E611K|SMC2_ENST00000374787.3_Missense_Mutation_p.E611K|SMC2_ENST00000374793.3_Missense_Mutation_p.E611K	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	611	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TTCCTTGGTTGAATATAAACC	0.388																																						uc004bbv.2		NaN																	0				ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1)	9						c.(1831-1833)GAA>AAA		structural maintenance of chromosomes 2							131.0	119.0	123.0					9																	106880491		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106880491G>A	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1831G>A	9.37:g.106880491G>A	ENSP00000286398:p.Glu611Lys					SMC2_uc004bbu.1_Missense_Mutation_p.E611K|SMC2_uc004bbw.2_Missense_Mutation_p.E611K|SMC2_uc011lvl.1_Missense_Mutation_p.E611K|SMC2_uc004bbx.2_Missense_Mutation_p.E611K	p.E611K	NM_001042551	NP_001036016	O95347	SMC2_HUMAN			15	2119	+			611			Flexible hinge.		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.1831G>A	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825353	0.71143	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	4.98	4.98	0.66077	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.220980	0.47455	D	0.000240	T	0.81108	0.4754	L	0.41710	1.295	0.43267	D	0.995219	B;B	0.22211	0.066;0.029	B;B	0.25506	0.061;0.029	T	0.76639	-0.2885	10	0.36615	T	0.2	-6.9665	17.0124	0.86410	0.0:0.0:1.0:0.0	.	611;611	O95347;Q2KQ72	SMC2_HUMAN;.	K	611	ENSP00000286398:E611K;ENSP00000363925:E611K;ENSP00000306152:E611K;ENSP00000363919:E611K	ENSP00000286398:E611K	E	+	1	0	SMC2	105920312	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.343000	0.79319	2.597000	0.87782	0.591000	0.81541	GAA		0.388	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1				43	6	0	0	0	0.131918	0	43	6		
TMEM245	23731	broad.mit.edu	37	9	111853251	111853251	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr9:111853251C>A	ENST00000374586.3	-	5	1132	c.1101G>T	c.(1099-1101)caG>caT	p.Q367H		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	367						integral component of membrane (GO:0016021)											TCAACCAGATCTGCATGACGA	0.443																																						uc004bdt.3		NaN																	0				central_nervous_system(1)	1						c.(1099-1101)CAG>CAT		hypothetical protein LOC23731							97.0	102.0	100.0					9																	111853251		2040	4186	6226	SO:0001583	missense	23731					integral to membrane		g.chr9:111853251C>A	AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 5"""	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.1101G>T	9.37:g.111853251C>A	ENSP00000363714:p.Gln367His					C9orf5_uc004bds.3_RNA|C9orf5_uc004bdr.3_Missense_Mutation_p.Q367H	p.Q367H	NM_032012	NP_114401	Q9H330	CI005_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;3.08e-05)|STAD - Stomach adenocarcinoma(157;0.0823)	5	1133	-		Myeloproliferative disorder(63;0.204)	367			Helical; (Potential).		B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Missense_Mutation	SNP	ENST00000374586.3	37	c.1101G>T	CCDS43858.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302318	0.60195	.	.	ENSG00000106771	ENST00000374587;ENST00000374586;ENST00000223608	T	0.25414	1.8	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.47655	0.1457	M	0.62723	1.935	0.39905	D	0.973954	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.993	T	0.43925	-0.9361	10	0.59425	D	0.04	-15.2835	13.4664	0.61256	0.0:0.9288:0.0:0.0712	.	367;367	Q9H330-2;Q9H330	.;CI005_HUMAN	H	367	ENSP00000363714:Q367H	ENSP00000223608:Q367H	Q	-	3	2	C9orf5	110893072	1.000000	0.71417	0.995000	0.50966	0.469000	0.32828	2.817000	0.48034	2.793000	0.96121	0.563000	0.77884	CAG		0.443	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053587.2		NM_032012		27	7	1	0	7.26314e-15	0.125774	7.81796e-15	27	7		
CSF2RA	1438	broad.mit.edu	37	X	1409371	1409371	+	Silent	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chrX:1409371C>T	ENST00000381524.3	+	7	801	c.615C>T	c.(613-615)ttC>ttT	p.F205F	CSF2RA_ENST00000501036.2_Silent_p.F72F|CSF2RA_ENST00000355805.2_Silent_p.F205F|BX649553.4_ENST00000580687.1_RNA|CSF2RA_ENST00000355432.3_Silent_p.F205F|CSF2RA_ENST00000381500.1_Silent_p.F205F|CSF2RA_ENST00000381509.3_Silent_p.F205F|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000417535.2_Silent_p.F205F|CSF2RA_ENST00000432318.2_Silent_p.F205F|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000361536.3_Silent_p.F205F|CSF2RA_ENST00000381529.3_Silent_p.F205F			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	205					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GCATCCAATTCTTTGATTCAC	0.383																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	uc010nct.2		NaN																	0				ovary(2)	2						c.(613-615)TTC>TTT		colony stimulating factor 2 receptor alpha chain	Sargramostim(DB00020)						251.0	258.0	256.0					X																	1409371		2203	4296	6499	SO:0001819	synonymous_variant	1438					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1409371C>T	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.615C>T	X.37:g.1409371C>T						CSF2RA_uc011mhb.1_Silent_p.F205F|CSF2RA_uc004cpq.2_Silent_p.F205F|CSF2RA_uc004cpn.2_Silent_p.F205F|CSF2RA_uc004cpo.2_Silent_p.F205F|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Silent_p.F72F|CSF2RA_uc004cpp.2_Silent_p.F205F|CSF2RA_uc010ncv.2_Silent_p.F205F|CSF2RA_uc004cpr.2_Silent_p.F205F	p.F205F	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN			8	937	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	205			Extracellular (Potential).		A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Silent	SNP	ENST00000381524.3	37	c.615C>T	CCDS35191.1																																																																																				0.383	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2				129	179	0	0	0	0.139131	0	129	179		
NHS	4810	broad.mit.edu	37	X	17744787	17744787	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chrX:17744787G>A	ENST00000380060.3	+	6	2836	c.2498G>A	c.(2497-2499)cGt>cAt	p.R833H	NHS_ENST00000398097.3_Missense_Mutation_p.R677H	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	854					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCACCTAAACGTAGCTCATCA	0.488																																						uc004cxx.2		NaN																	0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(2497-2499)CGT>CAT		Nance-Horan syndrome protein isoform 1							119.0	115.0	116.0					X																	17744787		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17744787G>A		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.2498G>A	X.37:g.17744787G>A	ENSP00000369400:p.Arg833His					NHS_uc011mix.1_Missense_Mutation_p.R854H|NHS_uc004cxy.2_Missense_Mutation_p.R677H|NHS_uc004cxz.2_Missense_Mutation_p.R656H|NHS_uc004cya.2_Missense_Mutation_p.R556H	p.R833H	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			6	2836	+	Hepatocellular(33;0.183)		833					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.2498G>A	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831757	0.71258	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.81078	-1.45;-1.41	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.90648	0.7067	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	D	0.91226	0.5010	10	0.72032	D	0.01	-13.2308	19.2927	0.94108	0.0:0.0:1.0:0.0	.	854;675;677;833	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	H	833;677;675	ENSP00000369400:R833H;ENSP00000381170:R677H	ENSP00000369397:R675H	R	+	2	0	NHS	17654708	1.000000	0.71417	0.944000	0.38274	0.968000	0.65278	9.476000	0.97823	2.509000	0.84616	0.538000	0.68166	CGT		0.488	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1		NM_198270		89	7	0	0	0	0.139131	0	89	7		
CCNB3	85417	broad.mit.edu	37	X	50089666	50089666	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chrX:50089666C>T	ENST00000376042.1	+	10	3968	c.3670C>T	c.(3670-3672)Cgt>Tgt	p.R1224C	CCNB3_ENST00000348603.2_Missense_Mutation_p.R120C|CCNB3_ENST00000276014.7_Missense_Mutation_p.R1224C|CCNB3_ENST00000376038.1_Missense_Mutation_p.R120C			Q8WWL7	CCNB3_HUMAN	cyclin B3	1224					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CAACTCACCTCGTGTGGATGA	0.463																																						uc004dox.3		NaN																	0				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(3670-3672)CGT>TGT		cyclin B3 isoform 3							191.0	158.0	169.0					X																	50089666		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50089666C>T	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.3670C>T	X.37:g.50089666C>T	ENSP00000365210:p.Arg1224Cys					CCNB3_uc004doy.2_Missense_Mutation_p.R1224C|CCNB3_uc004doz.2_Missense_Mutation_p.R120C|CCNB3_uc010njq.2_Missense_Mutation_p.R116C|CCNB3_uc004dpa.2_Missense_Mutation_p.R63C	p.R1224C	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			10	3968	+	Ovarian(276;0.236)		1224					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.3670C>T	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.509114	0.27036	.	.	ENSG00000147082	ENST00000376042;ENST00000376038;ENST00000348603;ENST00000276014	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	4.67	2.12	0.27331	Cyclin, N-terminal (1);Cyclin-like (3);	0.426218	0.29638	N	0.011593	T	0.03871	0.0109	N	0.01751	-0.74	0.26330	N	0.977537	B;B;B	0.14805	0.011;0.004;0.011	B;B;B	0.08055	0.003;0.0;0.003	T	0.42207	-0.9465	9	.	.	.	.	5.421	0.16400	0.1561:0.0906:0.0:0.7533	.	1224;120;1224	A8K8T9;Q8WWL7-2;Q8WWL7	.;.;CCNB3_HUMAN	C	1224;120;120;1224	ENSP00000365210:R1224C;ENSP00000365206:R120C;ENSP00000338682:R120C;ENSP00000276014:R1224C	.	R	+	1	0	CCNB3	50106406	1.000000	0.71417	0.001000	0.08648	0.024000	0.10985	1.420000	0.34804	0.113000	0.18004	-0.390000	0.06520	CGT		0.463	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1				44	3	0	0	0	0.139131	0	44	3		
SLC16A2	6567	broad.mit.edu	37	X	73751256	73751256	+	Silent	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chrX:73751256C>T	ENST00000587091.1	+	6	1665	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F	SLC16A2_ENST00000276033.5_Silent_p.F570F	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	496					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TCCTCTTCTTCGTCCCTCTGA	0.532																																						uc004ebt.2		NaN																	0				breast(2)|ovary(1)	3						c.(1708-1710)TTC>TTT		solute carrier family 16, member 2	Pyruvic acid(DB00119)						111.0	92.0	98.0					X																	73751256		2203	4300	6503	SO:0001819	synonymous_variant	6567					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chrX:73751256C>T		CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.1488C>T	X.37:g.73751256C>T						SLC16A2_uc010nlr.1_3'UTR	p.F570F	NM_006517	NP_006508	P36021	MOT8_HUMAN			6	1876	+			496			Helical; (Potential).		Q7Z797	Silent	SNP	ENST00000587091.1	37	c.1710C>T	CCDS14426.2																																																																																				0.532	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3				51	6	0	0	0	0.139131	0	51	6		
FLNA	2316	broad.mit.edu	37	X	153593318	153593318	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chrX:153593318C>T	ENST00000369850.3	-	12	1935	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K	FLNA_ENST00000422373.1_Missense_Mutation_p.E567K|FLNA_ENST00000360319.4_Missense_Mutation_p.E567K|FLNA_ENST00000344736.4_Missense_Mutation_p.E567K	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	567					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCTTCACTTCGAAGGGACTG	0.632																																						uc004fkk.2		NaN																	0				breast(6)	6						c.(1699-1701)GAA>AAA		filamin A, alpha isoform 2							81.0	91.0	88.0					X																	153593318		2091	4192	6283	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153593318C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1699G>A	X.37:g.153593318C>T	ENSP00000358866:p.Glu567Lys					FLNA_uc010nuu.1_Missense_Mutation_p.E567K	p.E567K	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			12	1948	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		567			Filamin 3.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.1699G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642260	0.29157	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	4.32	4.32	0.51571	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000003	D	0.86843	0.6030	L	0.45422	1.42	0.80722	D	1	D;B	0.65815	0.995;0.103	P;B	0.62813	0.907;0.086	D	0.88760	0.3256	10	0.87932	D	0	.	16.2408	0.82408	0.0:1.0:0.0:0.0	.	567;567	P21333-2;P21333	.;FLNA_HUMAN	K	567;540;567;567;567	ENSP00000353467:E567K;ENSP00000416926:E567K;ENSP00000358866:E567K;ENSP00000358863:E567K	ENSP00000358863:E567K	E	-	1	0	FLNA	153246512	1.000000	0.71417	0.882000	0.34594	0.150000	0.21749	6.074000	0.71253	1.736000	0.51660	0.458000	0.33432	GAA		0.632	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3				42	42	0	0	0	0.268233	0	42	42		
PARD3	56288	broad.mit.edu	37	10	34630676	34630689	+	Frame_Shift_Del	DEL	ACCTGTCATCTTCT	ACCTGTCATCTTCT	-			TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr10:34630676_34630689delACCTGTCATCTTCT	ENST00000374789.3	-	16	2608_2621	c.2283_2296delAGAAGATGACAGGT	c.(2281-2298)atagaagatgacaggttgfs	p.EDDRL762fs	PARD3_ENST00000374788.3_Frame_Shift_Del_p.EDDRL759fs|PARD3_ENST00000374794.3_Frame_Shift_Del_p.EDDRL702fs|PARD3_ENST00000544292.1_Frame_Shift_Del_p.EDDRL476fs|PARD3_ENST00000374773.1_Frame_Shift_Del_p.EDDRL759fs|PARD3_ENST00000340077.5_Frame_Shift_Del_p.EDDRL759fs|PARD3_ENST00000346874.4_Frame_Shift_Del_p.EDDRL762fs|PARD3_ENST00000374776.1_Frame_Shift_Del_p.EDDRL746fs|PARD3_ENST00000545693.1_Frame_Shift_Del_p.EDDRL746fs|PARD3_ENST00000545260.1_Frame_Shift_Del_p.EDDRL702fs|PARD3_ENST00000374790.3_Frame_Shift_Del_p.EDDRL702fs|PARD3_ENST00000350537.4_Frame_Shift_Del_p.EDDRL746fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	762	Interacts with PRKCI and PRKCZ. {ECO:0000250}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				AGCACTGGCAACCTGTCATCTTCTATAATGACAG	0.481																																						uc010qej.1		NaN																	0				ovary(1)	1						c.(2281-2298)ATAGAAGATGACAGGTTGfs		partitioning-defective protein 3 homolog																																				SO:0001589	frameshift_variant	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34630676_34630689delACCTGTCATCTTCT	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.2283_2296delAGAAGATGACAGGT	10.37:g.34630676_34630689delACCTGTCATCTTCT	ENSP00000363921:p.Glu762fs					PARD3_uc010qek.1_Frame_Shift_Del_p.I758fs|PARD3_uc010qel.1_Frame_Shift_Del_p.I761fs|PARD3_uc010qem.1_Frame_Shift_Del_p.I745fs|PARD3_uc010qen.1_Frame_Shift_Del_p.I745fs|PARD3_uc010qeo.1_Frame_Shift_Del_p.I745fs|PARD3_uc010qep.1_Frame_Shift_Del_p.I701fs|PARD3_uc010qeq.1_Frame_Shift_Del_p.I701fs|PARD3_uc001ixo.1_Frame_Shift_Del_p.I475fs|PARD3_uc001ixp.1_Frame_Shift_Del_p.I623fs|PARD3_uc001ixq.1_Frame_Shift_Del_p.I745fs|PARD3_uc001ixr.1_Frame_Shift_Del_p.I758fs|PARD3_uc001ixt.1_Frame_Shift_Del_p.I579fs|PARD3_uc001ixu.1_Frame_Shift_Del_p.I704fs|PARD3_uc001ixs.1_Frame_Shift_Del_p.I414fs	p.I761fs	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN			16	2283_2296	-		Breast(68;0.0707)	761_766			Interacts with PRKCZ (By similarity).		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Frame_Shift_Del	DEL	ENST00000374789.3	37	c.2283_2296delAGAAGATGACAGGT	CCDS7178.1																																																																																				0.481	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1		NM_019619		32	83	NaN	NaN	NaN	NaN	NaN	32	83	---	---
SLC25A22	79751	broad.mit.edu	37	11	800588	800596	+	5'Flank	DEL	CGCCCTCGA	CGCCCTCGA	-	rs139057055|rs151136652		TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr11:800588_800596delCGCCCTCGA	ENST00000531214.1	-	0	0				PIDD_ENST00000347755.5_In_Frame_Del_p.663_666FEGE>*|PIDD_ENST00000411829.2_In_Frame_Del_p.663_666FEGE>*|PIDD_ENST00000534649.1_5'Flank	NM_001191060.1	NP_001177989.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22						L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGAACTCTTCGCCCTCGAACATCTCCAC	0.684																																					Colon(93;848 1468 3270 23355 49636)	uc001lro.1		NaN																	0					0						c.(1987-1998)TTCGAGGGCGAA>TAA		leucine rich repeat and death domain containing																																				SO:0001631	upstream_gene_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:800588_800596delCGCCCTCGA	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310		11.37:g.800588_800596delCGCCCTCGA	Exception_encountered					SLC25A22_uc009yci.2_5'Flank|SLC25A22_uc001lrj.2_5'Flank|LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_In_Frame_Del_p.663_666FEGE>*|LRDD_uc001lrl.1_In_Frame_Del_p.506_509FEGE>*|LRDD_uc001lrm.1_In_Frame_Del_p.350_353FEGE>*|LRDD_uc001lrn.1_In_Frame_Del_p.506_509FEGE>*|LRDD_uc001lrp.1_In_Frame_Del_p.325_328FEGE>*	p.663_666FEGE>*	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	12	2130_2138	-		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	663_666					A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	In_Frame_Del	DEL	ENST00000531214.1	37	c.1988_1996delTCGAGGGCG	CCDS7715.1																																																																																				0.684	SLC25A22-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384124.1				13	19	NaN	NaN	NaN	NaN	NaN	13	19	---	---
GSPT1	2935	broad.mit.edu	37	16	12009530	12009531	+	Intron	INS	-	-	CCG	rs71408216|rs374901734		TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr16:12009530_12009531insCCG	ENST00000420576.2	-	1	41				GSPT1_ENST00000434724.2_In_Frame_Ins_p.16_16G>GG|GSPT1_ENST00000439887.2_In_Frame_Ins_p.16_16G>GG|AC007216.1_ENST00000583357.1_RNA	NM_001130007.1	NP_001123479.1	P15170	ERF3A_HUMAN	G1 to S phase transition 1						G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						cgctgctgctcccgccgccgcc	0.772																																						uc002dbt.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(46-48)GGG>GGCGGG		G1 to S phase transition 1 isoform 1																																				SO:0001627	intron_variant	2935				G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity	g.chr16:12009530_12009531insCCG	BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000420576.2:c.61+367->CGG	16.37:g.12009537_12009539dupCCG						GSPT1_uc002dbu.2_In_Frame_Ins_p.16_16G>GG|GSPT1_uc010bux.2_Intron	p.16_16G>GG	NM_002094	NP_002085	P15170	ERF3A_HUMAN			1	295_296	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					J3KQG6|Q96GF2	In_Frame_Ins	INS	ENST00000420576.2	37	c.47_48insCGG	CCDS45414.1																																																																																				0.772	GSPT1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421514.1		NM_002094		5	2	NaN	NaN	NaN	NaN	NaN	5	2	---	---
CYP7A1	1581	broad.mit.edu	37	8	59410812	59410812	+	Frame_Shift_Del	DEL	T	T	-	rs184906718	byFrequency	TCGA-CU-A3QU-01A-11D-A22Z-08	TCGA-CU-A3QU-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9be99ef-b43e-44f0-ace3-bac74f676897	fd78ed12-ff64-42ef-8f68-d13b2f707f73	g.chr8:59410812delT	ENST00000301645.3	-	2	434	c.297delA	c.(295-297)aaafs	p.K99fs		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	99					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CAAAGTGAAATTTTTTCCAAT	0.323									Neonatal Giant Cell Hepatitis																													uc003xtm.3		NaN																	0				ovary(1)	1						c.(295-297)AAAfs		cytochrome P450, family 7, subfamily A,							92.0	98.0	96.0					8																	59410812		2203	4300	6503	SO:0001589	frameshift_variant	1581	Neonatal_Giant_Cell_Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59410812delT	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.297delA	8.37:g.59410812delT	ENSP00000301645:p.Lys99fs						p.K99fs	NM_000780	NP_000771	P22680	CP7A1_HUMAN			2	360	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	99					P78454|Q3MIL8|Q7KZ19	Frame_Shift_Del	DEL	ENST00000301645.3	37	c.297delA	CCDS6171.1																																																																																				0.323	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1		NM_000780		29	133	NaN	NaN	NaN	NaN	NaN	29	133	---	---
