#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
CAMTA1	23261	broad.mit.edu	37	1	7723702	7723702	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:7723702G>A	ENST00000303635.7	+	9	1302	c.1095G>A	c.(1093-1095)ggG>ggA	p.G365G	CAMTA1_ENST00000439411.2_Silent_p.G365G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	365					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCAGCAGCGGGCTCAACAGCG	0.662			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.2		NaN		Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					0				ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(1093-1095)GGG>GGA		calmodulin-binding transcription activator 1							97.0	97.0	97.0					1																	7723702		2203	4300	6503	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7723702G>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1095G>A	1.37:g.7723702G>A							p.G365G	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	1302	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	365					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.1095G>A	CCDS30576.1																																																																																				0.662	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3		NM_015215		12	126	0	0	0	0.010729	0	12	126		
PER3	8863	broad.mit.edu	37	1	7863866	7863866	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:7863866G>T	ENST00000361923.2	+	9	1266	c.1091G>T	c.(1090-1092)aGc>aTc	p.S364I	PER3_ENST00000377541.1_Missense_Mutation_p.S364I|PER3_ENST00000377532.3_Missense_Mutation_p.S365I	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	364	PAC.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		AATCCCTGGAGCCGGAAGATT	0.403																																						uc001aoo.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1090-1092)AGC>ATC		period 3							118.0	113.0	115.0					1																	7863866		2203	4300	6503	SO:0001583	missense	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7863866G>T	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.1091G>T	1.37:g.7863866G>T	ENSP00000355031:p.Ser364Ile					PER3_uc009vmg.1_Missense_Mutation_p.S365I|PER3_uc009vmh.1_Missense_Mutation_p.S365I|PER3_uc001aop.2_Missense_Mutation_p.S365I|PER3_uc010nzw.1_Missense_Mutation_p.S46I|PER3_uc001aon.2_Missense_Mutation_p.S364I	p.S364I	NM_016831	NP_058515	P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	9	1266	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	364			PAC.		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	c.1091G>T	CCDS89.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269638	0.80469	.	.	ENSG00000049246	ENST00000377541;ENST00000377532;ENST00000361923	T;T;T	0.20881	2.04;2.04;2.04	4.66	3.75	0.43078	PAS fold-3 (1);	0.000000	0.85682	D	0.000000	T	0.60301	0.2258	H	0.97962	4.115	0.80722	D	1	D;D;D;D	0.59767	0.957;0.986;0.966;0.957	P;D;P;P	0.66084	0.818;0.941;0.902;0.818	T	0.76865	-0.2801	10	0.87932	D	0	.	14.1077	0.65101	0.0:0.1511:0.8489:0.0	.	364;365;365;364	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	I	364;365;364	ENSP00000366764:S364I;ENSP00000366755:S365I;ENSP00000355031:S364I	ENSP00000355031:S364I	S	+	2	0	PER3	7786453	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.053000	0.71089	1.192000	0.43071	-0.150000	0.13652	AGC		0.403	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1		NM_016831		36	41	1	0	1.36161e-19	0.004289	1.53322e-19	36	41		
RERE	473	broad.mit.edu	37	1	8617577	8617577	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:8617577C>G	ENST00000337907.3	-	6	1162	c.528G>C	c.(526-528)aaG>aaC	p.K176N	RERE_ENST00000400907.2_Missense_Mutation_p.K176N|RERE_ENST00000400908.2_Missense_Mutation_p.K176N	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	176	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GATGGTCCCTCTTACTCTGAA	0.438																																						uc001ape.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(526-528)AAG>AAC		atrophin-1 like protein isoform a							98.0	80.0	86.0					1																	8617577		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8617577C>G	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.528G>C	1.37:g.8617577C>G	ENSP00000338629:p.Lys176Asn					RERE_uc001apf.2_Missense_Mutation_p.K176N|RERE_uc001aph.1_Missense_Mutation_p.K176N	p.K176N	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	6	1338	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	176			BAH.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.528G>C	CCDS95.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.336385|4.336385	0.81801|0.81801	.|.	.|.	ENSG00000142599|ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908|ENST00000514428	D;D;D|.	0.87334|.	-2.24;-2.24;-2.24|.	6.03|6.03	5.11|5.11	0.69529|0.69529	Bromo adjacent homology (BAH) domain (3);|.	.|.	.|.	.|.	.|.	T|T	0.55832|0.55832	0.1945|0.1945	L|L	0.39898|0.39898	1.24|1.24	0.49389|0.49389	D|D	0.999786|0.999786	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.49062|0.49062	-0.8978|-0.8978	9|5	0.66056|.	D|.	0.02|.	-21.4203|-21.4203	10.5864|10.5864	0.45286|0.45286	0.0:0.866:0.0:0.134|0.0:0.866:0.0:0.134	.|.	176|.	Q9P2R6|.	RERE_HUMAN|.	N|T	176|26	ENSP00000338629:K176N;ENSP00000383699:K176N;ENSP00000383700:K176N|.	ENSP00000338629:K176N|.	K|R	-|-	3|2	2|0	RERE|RERE	8540164|8540164	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.162000|3.162000	0.50755|0.50755	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.438	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1				22	30	0	0	0	0.012319	0	22	30		
DFFA	1676	broad.mit.edu	37	1	10523593	10523593	+	Missense_Mutation	SNP	G	G	T	rs375755872		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:10523593G>T	ENST00000377038.3	-	4	593	c.526C>A	c.(526-528)Caa>Aaa	p.Q176K	DFFA_ENST00000377036.2_Missense_Mutation_p.Q176K	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	176					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		AGCACCTGTTGGAGTGTGTGC	0.547																																						uc001arj.2		NaN																	0					0						c.(526-528)CAA>AAA		DNA fragmentation factor, 45kDa, alpha							91.0	82.0	85.0					1																	10523593		2203	4300	6503	SO:0001583	missense	1676				DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding	g.chr1:10523593G>T	AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"""DNA fragmentation factor, 45 kD, alpha subunit"""	601882	"""DNA fragmentation factor, 45 kD, alpha polypeptide"""			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.526C>A	1.37:g.10523593G>T	ENSP00000366237:p.Gln176Lys					DFFA_uc001ark.2_Missense_Mutation_p.Q176K	p.Q176K	NM_004401	NP_004392	O00273	DFFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)	4	624	-	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	176					Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Missense_Mutation	SNP	ENST00000377038.3	37	c.526C>A	CCDS118.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253430	0.80135	.	.	ENSG00000160049	ENST00000377038;ENST00000377036	.	.	.	5.39	5.39	0.77823	DNA fragmentation factor 45kDa, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.79179	0.4402	M	0.70275	2.135	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.997	T	0.78437	-0.2204	9	0.44086	T	0.13	-21.6168	19.1371	0.93431	0.0:0.0:1.0:0.0	.	176;176	O00273-2;O00273	.;DFFA_HUMAN	K	176	.	ENSP00000366235:Q176K	Q	-	1	0	DFFA	10446180	1.000000	0.71417	0.998000	0.56505	0.688000	0.40055	5.745000	0.68672	2.524000	0.85096	0.650000	0.86243	CAA		0.547	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005418.1		NM_004401		40	167	1	0	3.61848e-18	0.007835	4.05776e-18	40	167		
C1orf127	148345	broad.mit.edu	37	1	11017751	11017751	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:11017751C>T	ENST00000377008.4	-	7	614	c.168G>A	c.(166-168)ctG>ctA	p.L56L	C1orf127_ENST00000377004.4_Silent_p.L205L			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	56										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		ACAGTCCCATCAGGCTGGCGT	0.582																																						uc010oao.1		NaN																	0				ovary(1)	1						c.(166-168)CTG>CTA		hypothetical protein LOC148345							82.0	77.0	78.0					1																	11017751		2203	4300	6503	SO:0001819	synonymous_variant	148345							g.chr1:11017751C>T	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.168G>A	1.37:g.11017751C>T						C1orf127_uc001arr.1_Silent_p.L56L|C1orf127_uc001ars.1_Silent_p.L56L	p.L56L	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)	3	173	-	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	56					A0AVG8|A6NKM7|Q5VXJ2	Silent	SNP	ENST00000377008.4	37	c.168G>A																																																																																					0.582	C1orf127-202	KNOWN	basic	protein_coding	protein_coding			NM_173507		62	83	0	0	0	0.00361	0	62	83		
SPEN	23013	broad.mit.edu	37	1	16203049	16203049	+	Missense_Mutation	SNP	C	C	G	rs375772075		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:16203049C>G	ENST00000375759.3	+	3	961	c.757C>G	c.(757-759)Cag>Gag	p.Q253E	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	253	Arg-rich.|Ser-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTCTAGAAATCAGTCTCCTCA	0.537																																						uc001axk.1		NaN																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(757-759)CAG>GAG		spen homolog, transcriptional regulator							52.0	50.0	50.0					1																	16203049		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16203049C>G		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.757C>G	1.37:g.16203049C>G	ENSP00000364912:p.Gln253Glu					SPEN_uc010obp.1_Missense_Mutation_p.Q212E	p.Q253E	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	3	961	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	253			Ser-rich.|Arg-rich.|By similarity.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.757C>G	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396102	0.62177	.	.	ENSG00000065526	ENST00000375759;ENST00000438066;ENST00000375753	T;T	0.30714	3.15;1.52	5.78	5.78	0.91487	.	.	.	.	.	T	0.26195	0.0639	N	0.14661	0.345	0.58432	D	0.999993	D	0.54207	0.965	P	0.47251	0.542	T	0.02546	-1.1143	9	0.15499	T	0.54	-18.7454	20.0118	0.97458	0.0:1.0:0.0:0.0	.	253	Q96T58	MINT_HUMAN	E	253;212;212	ENSP00000364912:Q253E;ENSP00000388021:Q212E	ENSP00000364906:Q212E	Q	+	1	0	SPEN	16075636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.493000	0.66899	2.744000	0.94065	0.563000	0.77884	CAG		0.537	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1		NM_015001		33	90	0	0	0	0.005524	0	33	90		
LUZP1	7798	broad.mit.edu	37	1	23419953	23419953	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:23419953C>T	ENST00000302291.4	-	4	1603	c.802G>A	c.(802-804)Gag>Aag	p.E268K	LUZP1_ENST00000418342.1_Missense_Mutation_p.E268K|LUZP1_ENST00000314174.5_Missense_Mutation_p.E268K|LUZP1_ENST00000374623.3_Missense_Mutation_p.E268K			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	268					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GTTTCATTCTCTACCTGCTTT	0.413																																						uc001bgk.2		NaN																	0					0						c.(802-804)GAG>AAG		leucine zipper protein 1							177.0	165.0	169.0					1																	23419953		2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23419953C>T	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.802G>A	1.37:g.23419953C>T	ENSP00000303758:p.Glu268Lys					LUZP1_uc010odv.1_Missense_Mutation_p.E268K|LUZP1_uc001bgl.2_Missense_Mutation_p.E268K|LUZP1_uc001bgm.1_Missense_Mutation_p.E268K	p.E268K	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	1186	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	268			Potential.		Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.802G>A	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594078	0.66219	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174;ENST00000471849	T;T;T;T;T	0.53423	1.95;1.95;1.95;1.78;0.62	6.17	6.17	0.99709	.	0.000000	0.49305	D	0.000158	T	0.70561	0.3238	M	0.77313	2.365	0.48452	D	0.999659	D;D	0.76494	0.999;0.999	D;D	0.71414	0.96;0.973	T	0.71909	-0.4450	10	0.87932	D	0	.	18.0354	0.89301	0.0:1.0:0.0:0.0	.	268;268	Q86V48-2;Q86V48	.;LUZP1_HUMAN	K	268	ENSP00000393460:E268K;ENSP00000363752:E268K;ENSP00000303758:E268K;ENSP00000313705:E268K;ENSP00000428061:E268K	ENSP00000303758:E268K	E	-	1	0	LUZP1	23292540	1.000000	0.71417	0.964000	0.40570	0.246000	0.25737	7.307000	0.78920	2.941000	0.99782	0.655000	0.94253	GAG		0.413	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3		NM_033631		32	51	0	0	0	0.010818	0	32	51		
LUZP1	7798	broad.mit.edu	37	1	23420139	23420139	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:23420139C>G	ENST00000302291.4	-	4	1417	c.616G>C	c.(616-618)Gaa>Caa	p.E206Q	LUZP1_ENST00000418342.1_Missense_Mutation_p.E206Q|LUZP1_ENST00000314174.5_Missense_Mutation_p.E206Q|LUZP1_ENST00000374623.3_Missense_Mutation_p.E206Q			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	206					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTCTCATTTTCTTTCTCCTTT	0.328																																						uc001bgk.2		NaN																	0					0						c.(616-618)GAA>CAA		leucine zipper protein 1							79.0	75.0	77.0					1																	23420139		2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23420139C>G	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.616G>C	1.37:g.23420139C>G	ENSP00000303758:p.Glu206Gln					LUZP1_uc010odv.1_Missense_Mutation_p.E206Q|LUZP1_uc001bgl.2_Missense_Mutation_p.E206Q|LUZP1_uc001bgm.1_Missense_Mutation_p.E206Q	p.E206Q	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	1000	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	206			Potential.		Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.616G>C	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.472156	0.26423	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174;ENST00000471849	T;T;T;T;T	0.40476	2.91;2.91;2.91;2.71;1.03	5.69	5.69	0.88448	.	0.000000	0.45867	D	0.000331	T	0.31606	0.0802	N	0.19112	0.55	0.43756	D	0.996263	P;P	0.51537	0.946;0.946	P;P	0.48677	0.586;0.586	T	0.09796	-1.0658	10	0.02654	T	1	.	13.7273	0.62765	0.0:0.7434:0.2566:0.0	.	206;206	Q86V48-2;Q86V48	.;LUZP1_HUMAN	Q	206	ENSP00000393460:E206Q;ENSP00000363752:E206Q;ENSP00000303758:E206Q;ENSP00000313705:E206Q;ENSP00000428061:E206Q	ENSP00000303758:E206Q	E	-	1	0	LUZP1	23292726	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.770000	0.62309	2.698000	0.92095	0.563000	0.77884	GAA		0.328	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3		NM_033631		20	29	0	0	0	0.007413	0	20	29		
ASAP3	55616	broad.mit.edu	37	1	23763091	23763091	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:23763091G>A	ENST00000336689.3	-	16	1577	c.1533C>T	c.(1531-1533)ccC>ccT	p.P511P	ASAP3_ENST00000495646.1_Silent_p.P15P|ASAP3_ENST00000437606.2_Silent_p.P502P	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	511	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CGCCGTGTGAGGGTAGCTGGG	0.587																																						uc001bha.2		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1531-1533)CCC>CCT		ArfGAP with SH3 domain, ankyrin repeat and PH							142.0	132.0	135.0					1																	23763091		2203	4300	6503	SO:0001819	synonymous_variant	55616				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	g.chr1:23763091G>A	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	14987	protein-coding gene	gene with protein product	"""centaurin, beta 6"""		"""development and differentiation enhancing factor-like 1"""	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.1533C>T	1.37:g.23763091G>A						ASAP3_uc001bgy.1_Silent_p.P15P|ASAP3_uc001bgz.1_RNA|ASAP3_uc010odz.1_Silent_p.P380P|ASAP3_uc010oea.1_Silent_p.P502P|ASAP3_uc001bhb.2_Silent_p.P34P	p.P511P	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN			16	1657	-			511			Arf-GAP.		B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Silent	SNP	ENST00000336689.3	37	c.1533C>T	CCDS235.1																																																																																				0.587	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2		NM_017707		56	70	0	0	0	0.00361	0	56	70		
ZNF683	257101	broad.mit.edu	37	1	26691249	26691249	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:26691249G>A	ENST00000436292.1	-	4	908	c.788C>T	c.(787-789)tCt>tTt	p.S263F	ZNF683_ENST00000374204.1_Missense_Mutation_p.S263F|ZNF683_ENST00000403843.1_Missense_Mutation_p.S263F|ZNF683_ENST00000349618.3_Missense_Mutation_p.S263F			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	263					natural killer cell differentiation (GO:0001779)|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(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		AGCTTGGCCAGAGGCTTGGAA	0.642																																						uc001bmg.1		NaN																	0					0						c.(787-789)TCT>TTT		zinc finger protein 683							36.0	39.0	38.0					1																	26691249		2203	4300	6503	SO:0001583	missense	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26691249G>A	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.788C>T	1.37:g.26691249G>A	ENSP00000388792:p.Ser263Phe					ZNF683_uc001bmh.1_Missense_Mutation_p.S263F|ZNF683_uc009vsj.1_Missense_Mutation_p.S263F	p.S263F	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	4	906	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	263					Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	ENST00000436292.1	37	c.788C>T		.	.	.	.	.	.	.	.	.	.	G	17.76	3.468306	0.63625	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618;ENST00000455900;ENST00000451801	T;T;T;T;T;T	0.23950	2.92;2.92;2.88;2.88;1.88;1.89	4.74	1.66	0.24008	.	0.957091	0.08598	N	0.921881	T	0.25457	0.0619	N	0.24115	0.695	0.09310	N	1	P;P	0.49090	0.919;0.868	P;P	0.51866	0.682;0.483	T	0.19976	-1.0289	10	0.66056	D	0.02	-0.3753	6.7549	0.23507	0.0964:0.3431:0.5605:0.0	.	263;263	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	F	263;263;263;263;271;263	ENSP00000384782:S263F;ENSP00000388792:S263F;ENSP00000363320:S263F;ENSP00000344095:S263F;ENSP00000411289:S271F;ENSP00000411290:S263F	ENSP00000344095:S263F	S	-	2	0	ZNF683	26563836	0.000000	0.05858	0.024000	0.17045	0.574000	0.36063	0.624000	0.24462	0.599000	0.29845	0.561000	0.74099	TCT		0.642	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2		NM_173574		58	48	0	0	0	0.00361	0	58	48		
FCN3	8547	broad.mit.edu	37	1	27699711	27699711	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:27699711C>G	ENST00000270879.4	-	5	314	c.309G>C	c.(307-309)ttG>ttC	p.L103F	FCN3_ENST00000354982.2_Missense_Mutation_p.L92F	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	103	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACCAGCCGCTCAAGGTGGCGC	0.642																																						uc001boa.2		NaN																	0					0						c.(307-309)TTG>TTC		ficolin 3 isoform 1 precursor							43.0	50.0	48.0					1																	27699711		2203	4300	6503	SO:0001583	missense	8547				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding	g.chr1:27699711C>G	D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748		"""Fibrinogen C domain containing"""	3625	protein-coding gene	gene with protein product	"""Hakata antigen"""	604973	"""ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)"""			9694814, 10330454	Standard	NM_003665		Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.309G>C	1.37:g.27699711C>G	ENSP00000270879:p.Leu103Phe					FCN3_uc001bob.2_Missense_Mutation_p.L92F	p.L103F	NM_003665	NP_003656	O75636	FCN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	5	315	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	103			Fibrinogen C-terminal.		Q6IBJ5|Q8WW86	Missense_Mutation	SNP	ENST00000270879.4	37	c.309G>C	CCDS300.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267847	0.59540	.	.	ENSG00000142748	ENST00000270879;ENST00000354982	T;T	0.76968	-1.06;-1.06	4.26	2.38	0.29361	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.44097	D	0.000482	T	0.80665	0.4666	L	0.46157	1.445	0.58432	D	0.999998	D;D	0.64830	0.987;0.994	P;D	0.68621	0.902;0.959	T	0.77175	-0.2684	10	0.46703	T	0.11	.	8.1913	0.31370	0.0:0.8002:0.0:0.1998	.	92;103	Q6UXM4;O75636	.;FCN3_HUMAN	F	103;92	ENSP00000270879:L103F;ENSP00000347077:L92F	ENSP00000270879:L103F	L	-	3	2	FCN3	27572298	0.997000	0.39634	0.051000	0.19133	0.444000	0.32077	0.701000	0.25616	0.451000	0.26802	-0.140000	0.14226	TTG		0.642	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000015667.1				34	71	0	0	0	0.003271	0	34	71		
GMEB1	10691	broad.mit.edu	37	1	29040947	29040947	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:29040947A>C	ENST00000294409.2	+	10	1474	c.1384A>C	c.(1384-1386)Aca>Cca	p.T462P	GMEB1_ENST00000361872.4_Missense_Mutation_p.T452P|GMEB1_ENST00000373816.1_Missense_Mutation_p.T452P|GMEB1_ENST00000480454.1_3'UTR	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	462					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CTCACCAGACACAGTGACCAT	0.582																																						uc001bra.2		NaN																	0					0						c.(1384-1386)ACA>CCA		glucocorticoid modulatory element binding							105.0	78.0	87.0					1																	29040947		2203	4300	6503	SO:0001583	missense	10691				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity	g.chr1:29040947A>C	AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.1384A>C	1.37:g.29040947A>C	ENSP00000294409:p.Thr462Pro					GMEB1_uc001bqz.2_Missense_Mutation_p.T452P|GMEB1_uc001brb.2_Missense_Mutation_p.T452P	p.T462P	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	10	1522	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	462					B1AT48|Q9NWH1|Q9UKD0	Missense_Mutation	SNP	ENST00000294409.2	37	c.1384A>C	CCDS327.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.019834	0.35606	.	.	ENSG00000162419	ENST00000373816;ENST00000361872;ENST00000294409	T;T;T	0.61980	0.08;0.08;0.06	5.75	4.63	0.57726	.	0.150677	0.47455	D	0.000235	T	0.49490	0.1560	L	0.42245	1.32	0.25449	N	0.988023	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45948	-0.9226	10	0.72032	D	0.01	-14.5256	5.137	0.14939	0.6994:0.1849:0.1157:0.0	.	462;452	Q9Y692;B1AT47	GMEB1_HUMAN;.	P	452;452;462	ENSP00000362922:T452P;ENSP00000355186:T452P;ENSP00000294409:T462P	ENSP00000294409:T462P	T	+	1	0	GMEB1	28913534	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.411000	0.44600	2.193000	0.70182	0.533000	0.62120	ACA		0.582	GMEB1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000010333.1		NM_006582		26	83	0	0	0	0.003954	0	26	83		
S100PBP	64766	broad.mit.edu	37	1	33321593	33321593	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:33321593G>A	ENST00000373475.5	+	7	1435	c.1181G>A	c.(1180-1182)cGa>cAa	p.R394Q	S100PBP_ENST00000373476.1_Missense_Mutation_p.R394Q	NM_022753.3	NP_073590.2			S100P binding protein											endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGGAACATGCGAAGCCACCAT	0.512																																						uc001bvz.2		NaN																	0					0						c.(1180-1182)CGA>CAA		S100P binding protein isoform a							124.0	112.0	116.0					1																	33321593		2203	4300	6503	SO:0001583	missense	64766					nucleus	calcium-dependent protein binding	g.chr1:33321593G>A	BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"""S100P binding protein 1"""	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.1181G>A	1.37:g.33321593G>A	ENSP00000362574:p.Arg394Gln					S100PBP_uc001bwc.2_Missense_Mutation_p.R394Q|S100PBP_uc001bwd.2_RNA	p.R394Q	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN			7	1458	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	394						Missense_Mutation	SNP	ENST00000373475.5	37	c.1181G>A	CCDS30666.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405375	0.83230	.	.	ENSG00000116497	ENST00000373476;ENST00000373475	.	.	.	4.79	3.88	0.44766	.	0.196840	0.33253	N	0.005120	T	0.49150	0.1540	L	0.60455	1.87	0.80722	D	1	B	0.31318	0.319	B	0.23852	0.049	T	0.55049	-0.8201	9	0.66056	D	0.02	-2.0812	9.3367	0.38054	0.0954:0.0:0.9046:0.0	.	394	Q96BU1	S1PBP_HUMAN	Q	394	.	ENSP00000362574:R394Q	R	+	2	0	S100PBP	33094180	0.998000	0.40836	0.997000	0.53966	0.998000	0.95712	2.930000	0.48924	1.626000	0.50381	0.655000	0.94253	CGA		0.512	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011266.1		NM_022753		25	60	0	0	0	0.003954	0	25	60		
DLGAP3	58512	broad.mit.edu	37	1	35365869	35365869	+	Silent	SNP	C	C	T	rs139408471		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:35365869C>T	ENST00000373347.1	-	4	1381	c.1113G>A	c.(1111-1113)ccG>ccA	p.P371P	DLGAP3_ENST00000235180.4_Silent_p.P371P			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	371					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.P371P(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				AGTCATCTTGCGGCACCTGCA	0.612																																						uc001byc.2		NaN																	2	Substitution - coding silent(2)		prostate(1)|endometrium(1)	ovary(3)	3						c.(1111-1113)CCG>CCA		discs, large (Drosophila) homolog-associated		C		1,4405	2.1+/-5.4	0,1,2202	64.0	66.0	66.0		1113	-1.2	1.0	1	dbSNP_134	66	0,8600		0,0,4300	no	coding-synonymous	DLGAP3	NM_001080418.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		371/980	35365869	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35365869C>T	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.1113G>A	1.37:g.35365869C>T							p.P371P	NM_001080418	NP_001073887	O95886	DLGP3_HUMAN			2	1113	-		Myeloproliferative disorder(586;0.0393)	371					Q5TDD5|Q9H3X7	Silent	SNP	ENST00000373347.1	37	c.1113G>A	CCDS30670.1																																																																																				0.612	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1		NM_021234		18	187	0	0	0	0.006122	0	18	187		
RSPO1	284654	broad.mit.edu	37	1	38079496	38079496	+	Missense_Mutation	SNP	G	G	A	rs374906144		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:38079496G>A	ENST00000401069.1	-	6	1217	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000401068.1_Missense_Mutation_p.R169W|RSPO1_ENST00000373059.1_Missense_Mutation_p.R142W|RSPO1_ENST00000356545.2_Missense_Mutation_p.R169W	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	169	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGCCCCTCCGGAAACCACAG	0.627																																					GBM(122;680 2230 27822 42821)	uc001cbl.1		NaN																	0					0						c.(505-507)CGG>TGG		R-spondin1 precursor		G	TRP/ARG,TRP/ARG,TRP/ARG,	1,3877		0,1,1938	51.0	54.0	53.0		505,505,424,	4.4	1.0	1		53	1,8299		0,1,4149	no	missense,missense,missense,intron	RSPO1	NM_001038633.3,NM_001242908.1,NM_001242909.1,NM_001242910.1	101,101,101,	0,2,6087	AA,AG,GG		0.012,0.0258,0.0164	probably-damaging,probably-damaging,probably-damaging,	169/264,169/264,142/237,	38079496	2,12176	1939	4150	6089	SO:0001583	missense	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38079496G>A	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.505C>T	1.37:g.38079496G>A	ENSP00000383847:p.Arg169Trp					RSPO1_uc001cbm.1_Missense_Mutation_p.R169W|RSPO1_uc009vvf.1_Missense_Mutation_p.R142W|RSPO1_uc009vvg.1_Intron	p.R169W	NM_001038633	NP_001033722	Q2MKA7	RSPO1_HUMAN			7	1293	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	169			TSP type-1.		A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Missense_Mutation	SNP	ENST00000401069.1	37	c.505C>T	CCDS41304.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.851293	0.91355	2.58E-4	1.2E-4	ENSG00000169218	ENST00000373059;ENST00000356545;ENST00000401069;ENST00000401068	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.42	4.45	0.53987	.	0.123337	0.53938	D	0.000045	D	0.82999	0.5159	L	0.58101	1.795	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.59546	0.859;0.828	D	0.84595	0.0669	10	0.87932	D	0	.	13.7148	0.62689	0.0:0.0:0.7394:0.2606	.	142;169	Q2MKA7-2;Q2MKA7	.;RSPO1_HUMAN	W	142;169;169;169	ENSP00000362150:R142W;ENSP00000348944:R169W;ENSP00000383847:R169W;ENSP00000383846:R169W	ENSP00000348944:R169W	R	-	1	2	RSPO1	37852083	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.738000	0.47401	2.711000	0.92665	0.655000	0.94253	CGG		0.627	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2		NM_173640		8	117	0	0	0	0.00308	0	8	117		
LEPRE1	64175	broad.mit.edu	37	1	43224586	43224586	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:43224586C>G	ENST00000296388.5	-	4	928	c.877G>C	c.(877-879)Gag>Cag	p.E293Q	LEPRE1_ENST00000236040.4_Missense_Mutation_p.E293Q|LEPRE1_ENST00000397054.3_Missense_Mutation_p.E293Q			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	293					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AAGGGCTTCTCTCGACTTGGG	0.443																																						uc001chv.2		NaN																	0				ovary(3)|lung(1)	4						c.(877-879)GAG>CAG		leprecan 1 isoform 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						109.0	98.0	102.0					1																	43224586		2203	4300	6503	SO:0001583	missense	64175				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr1:43224586C>G	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.877G>C	1.37:g.43224586C>G	ENSP00000296388:p.Glu293Gln					LEPRE1_uc001chw.2_Missense_Mutation_p.E293Q|LEPRE1_uc001chx.3_Missense_Mutation_p.E293Q	p.E293Q	NM_022356	NP_071751	Q32P28	P3H1_HUMAN			4	990	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	293					Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	ENST00000296388.5	37	c.877G>C	CCDS472.2	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215047	0.58452	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.37058	1.22;1.22;1.22	5.9	5.9	0.94986	.	0.093454	0.64402	D	0.000001	T	0.41789	0.1174	L	0.54323	1.7	0.47621	D	0.99947	P;P;P	0.50443	0.921;0.835;0.935	P;B;B	0.52386	0.697;0.291;0.368	T	0.10428	-1.0630	10	0.13853	T	0.58	-34.4923	11.0969	0.48150	0.0:0.9167:0.0:0.0833	.	293;158;293	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	Q	293;293;293;158	ENSP00000380245:E293Q;ENSP00000236040:E293Q;ENSP00000296388:E293Q	ENSP00000236040:E293Q	E	-	1	0	LEPRE1	42997173	0.891000	0.30450	1.000000	0.80357	0.991000	0.79684	3.073000	0.50057	2.786000	0.95864	0.563000	0.77884	GAG		0.443	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2		NM_022356		51	63	0	0	0	0.00361	0	51	63		
TIE1	7075	broad.mit.edu	37	1	43778138	43778138	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:43778138C>T	ENST00000372476.3	+	12	1872	c.1793C>T	c.(1792-1794)tCa>tTa	p.S598L	TIE1_ENST00000433781.2_Missense_Mutation_p.S243L	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	598	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAGAACGTCTCATCCCCCCAG	0.706																																						uc001ciu.2		NaN																	0				lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7						c.(1792-1794)TCA>TTA		tyrosine kinase with immunoglobulin-like and							35.0	34.0	34.0					1																	43778138		2203	4298	6501	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43778138C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1793C>T	1.37:g.43778138C>T	ENSP00000361554:p.Ser598Leu					TIE1_uc010okd.1_Missense_Mutation_p.S598L|TIE1_uc010oke.1_Missense_Mutation_p.S553L|TIE1_uc009vwq.2_Missense_Mutation_p.S554L|TIE1_uc010okf.1_Missense_Mutation_p.S243L|TIE1_uc010okg.1_Missense_Mutation_p.S243L	p.S598L	NM_005424	NP_005415	P35590	TIE1_HUMAN			12	1872	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	598			Fibronectin type-III 2.|Extracellular (Potential).		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.1793C>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052338	0.55218	.	.	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.59364	0.27;0.27	5.43	5.43	0.79202	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.822627	0.09939	N	0.736154	T	0.45756	0.1358	N	0.08118	0	0.40288	D	0.978471	B;B;P;B;B	0.38300	0.137;0.166;0.626;0.166;0.166	B;B;B;B;B	0.40782	0.023;0.096;0.34;0.039;0.096	T	0.45308	-0.9270	10	0.31617	T	0.26	.	17.4061	0.87474	0.0:1.0:0.0:0.0	.	243;553;598;243;598	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	L	598;243	ENSP00000361554:S598L;ENSP00000411728:S243L	ENSP00000361554:S598L	S	+	2	0	TIE1	43550725	0.978000	0.34361	0.967000	0.41034	0.802000	0.45316	3.474000	0.53129	2.549000	0.85964	0.563000	0.77884	TCA		0.706	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1		NM_005424		5	42	0	0	0	0.001168	0	5	42		
SLC6A9	6536	broad.mit.edu	37	1	44482736	44482736	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:44482736G>T	ENST00000360584.2	-	1	261	c.70C>A	c.(70-72)Ccc>Acc	p.P24T	SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000492434.2_Intron|SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000372310.3_Intron|SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000372307.3_5'Flank|SLC6A9_ENST00000357730.2_Missense_Mutation_p.P24T	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	24					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GGGGAAGAGGGGGCCACAGGT	0.677																																						uc001cll.2		NaN																	0					0						c.(70-72)CCC>ACC		solute carrier family 6 member 9 isoform 2	Glycine(DB00145)						28.0	35.0	32.0					1																	44482736		2132	4222	6354	SO:0001583	missense	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44482736G>T	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.70C>A	1.37:g.44482736G>T	ENSP00000353791:p.Pro24Thr					SLC6A9_uc009vxe.2_5'Flank|SLC6A9_uc010okm.1_Intron|SLC6A9_uc001clm.2_Missense_Mutation_p.P24T|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.P24T|SLC6A9_uc001cln.2_Intron|SLC6A9_uc010oko.1_Intron|SLC6A9_uc010okp.1_Intron	p.P24T	NM_201649	NP_964012	P48067	SC6A9_HUMAN			1	262	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	24			Cytoplasmic (Potential).		A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	ENST00000360584.2	37	c.70C>A	CCDS41317.1	.	.	.	.	.	.	.	.	.	.	G	7.769	0.707135	0.15239	.	.	ENSG00000196517	ENST00000360584;ENST00000357730;ENST00000528803	T;T;T	0.72615	-0.67;-0.67;-0.6	5.09	4.15	0.48705	.	4.227620	0.00691	N	0.000726	T	0.54062	0.1835	N	0.08118	0	0.80722	D	1	B;B;B	0.31318	0.319;0.002;0.0	B;B;B	0.31290	0.127;0.003;0.001	T	0.29941	-0.9995	10	0.11182	T	0.66	.	10.8204	0.46601	0.0:0.0:0.8032:0.1967	.	24;24;24	B7Z3W8;P48067-3;P48067	.;.;SC6A9_HUMAN	T	24	ENSP00000353791:P24T;ENSP00000350362:P24T;ENSP00000435652:P24T	ENSP00000350362:P24T	P	-	1	0	SLC6A9	44255323	1.000000	0.71417	0.998000	0.56505	0.426000	0.31534	2.954000	0.49113	1.207000	0.43291	0.555000	0.69702	CCC		0.677	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2		NM_201649		14	59	1	0	7.07596e-05	0.006122	7.30378e-05	14	59		
PRDX1	5052	broad.mit.edu	37	1	45981460	45981460	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:45981460G>C	ENST00000262746.1	-	3	465	c.126C>G	c.(124-126)ttC>ttG	p.F42L	PRDX1_ENST00000483583.1_5'UTR|PRDX1_ENST00000372079.1_Intron|PRDX1_ENST00000319248.8_Missense_Mutation_p.F42L	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	42	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell proliferation (GO:0008283)|erythrocyte homeostasis (GO:0034101)|hydrogen peroxide catabolic process (GO:0042744)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of NF-kappaB import into nucleus (GO:0042345)|regulation of stress-activated MAPK cascade (GO:0032872)|removal of superoxide radicals (GO:0019430)|retina homeostasis (GO:0001895)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)	heme binding (GO:0020037)|peroxidase activity (GO:0004601)|poly(A) RNA binding (GO:0044822)|thioredoxin peroxidase activity (GO:0008379)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					GAGGGTAAAAGAAGAACACAA	0.408																																						uc001cnz.2		NaN																	0					0						c.(124-126)TTC>TTG		peroxiredoxin 1							92.0	92.0	92.0					1																	45981460		2203	4300	6503	SO:0001583	missense	5052				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity	g.chr1:45981460G>C	BC021683	CCDS522.1	1p34.1	2008-02-05			ENSG00000117450	ENSG00000117450			9352	protein-coding gene	gene with protein product		176763		PAGA		8496166	Standard	NM_181697		Approved	NKEFA	uc021omw.1	Q06830	OTTHUMG00000007738	ENST00000262746.1:c.126C>G	1.37:g.45981460G>C	ENSP00000262746:p.Phe42Leu					PRDX1_uc001coa.2_Missense_Mutation_p.F42L|PRDX1_uc001cob.2_Missense_Mutation_p.F42L|PRDX1_uc001coc.2_Missense_Mutation_p.F42L	p.F42L	NM_181697	NP_859048	Q06830	PRDX1_HUMAN			2	158	-	Acute lymphoblastic leukemia(166;0.155)		42			Thioredoxin.		B5BU26|D3DPZ8|P35703|Q2V576|Q5T154|Q5T155	Missense_Mutation	SNP	ENST00000262746.1	37	c.126C>G	CCDS522.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341490	0.61073	.	.	ENSG00000117450	ENST00000262746;ENST00000319248;ENST00000447184;ENST00000424390	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	6.04	0.777	0.18538	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.18964	0.0455	L	0.58925	1.835	0.58432	D	0.999999	P	0.46912	0.886	P	0.44447	0.45	T	0.02358	-1.1171	10	0.56958	D	0.05	-14.1633	9.9059	0.41375	0.4336:0.0:0.5664:0.0	.	42	Q06830	PRDX1_HUMAN	L	42	ENSP00000262746:F42L;ENSP00000361152:F42L;ENSP00000407034:F42L;ENSP00000389047:F42L	ENSP00000262746:F42L	F	-	3	2	PRDX1	45754047	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	1.476000	0.35420	0.094000	0.17404	0.563000	0.77884	TTC		0.408	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020845.1		NM_181697		67	57	0	0	0	0.00361	0	67	57		
CCDC17	149483	broad.mit.edu	37	1	46086690	46086690	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:46086690G>A	ENST00000528266.1	-	11	1631	c.1484C>T	c.(1483-1485)tCa>tTa	p.S495L	CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000421127.2_Missense_Mutation_p.S486L|CCDC17_ENST00000464739.1_5'UTR|CCDC17_ENST00000343901.2_Missense_Mutation_p.S463L			Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	495										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					TAGTCCAAGTGAGACCCAAGC	0.592																																						uc010olt.1		NaN																	0				ovary(1)	1						c.(1483-1485)TCA>TTA		coiled-coil domain containing 17							44.0	46.0	45.0					1																	46086690		2203	4300	6503	SO:0001583	missense	149483							g.chr1:46086690G>A		CCDS44131.1, CCDS44131.2, CCDS53314.1	1p34.1	2014-02-12			ENSG00000159588	ENSG00000159588			26574	protein-coding gene	gene with protein product							Standard	NM_001190182		Approved	FLJ33084	uc010olt.2	Q96LX7	OTTHUMG00000007822	ENST00000528266.1:c.1484C>T	1.37:g.46086690G>A	ENSP00000432172:p.Ser495Leu					CCDC17_uc009vxy.2_Missense_Mutation_p.S463L|CCDC17_uc010ols.1_Missense_Mutation_p.S486L|CCDC17_uc001com.3_Missense_Mutation_p.S316L|CCDC17_uc001con.3_RNA|CCDC17_uc009vxz.2_Intron	p.S495L	NM_001114938	NP_001108410	Q96LX7	CCD17_HUMAN			11	1632	-	Acute lymphoblastic leukemia(166;0.155)		495					A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629	Missense_Mutation	SNP	ENST00000528266.1	37	c.1484C>T	CCDS44131.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226335	0.79576	.	.	ENSG00000159588	ENST00000421127;ENST00000343901;ENST00000528266	T;T;T	0.16597	2.33;2.33;2.33	5.72	3.56	0.40772	.	0.534848	0.18952	N	0.126666	T	0.34948	0.0915	M	0.65975	2.015	0.35443	D	0.795001	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.961;0.961	T	0.34229	-0.9837	10	0.56958	D	0.05	-18.6372	7.9028	0.29744	0.0:0.125:0.5009:0.3741	.	495;486;463	Q96LX7;Q96LX7-5;F2Z395	CCD17_HUMAN;.;.	L	486;463;495	ENSP00000389415:S486L;ENSP00000341451:S463L;ENSP00000432172:S495L	ENSP00000341451:S463L	S	-	2	0	CCDC17	45859277	1.000000	0.71417	0.967000	0.41034	0.762000	0.43233	1.943000	0.40253	2.686000	0.91538	0.591000	0.81541	TCA		0.592	CCDC17-008	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386833.1		NM_152500		26	26	0	0	0	0.005443	0	26	26		
LRRC41	10489	broad.mit.edu	37	1	46744710	46744710	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:46744710G>T	ENST00000343304.6	-	10	2551	c.2266C>A	c.(2266-2268)Ctg>Atg	p.L756M	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	756					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CAGCGCTCCAGCCGCTTGGCG	0.582																																						uc001cpn.2		NaN																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(2266-2268)CTG>ATG		MUF1 protein							34.0	39.0	37.0					1																	46744710		2203	4300	6503	SO:0001583	missense	10489							g.chr1:46744710G>T	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.2266C>A	1.37:g.46744710G>T	ENSP00000343298:p.Leu756Met					LRRC41_uc010omb.1_3'UTR	p.L756M	NM_006369	NP_006360	Q15345	LRC41_HUMAN			10	2310	-	Acute lymphoblastic leukemia(166;0.155)		756					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	c.2266C>A	CCDS533.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114886	0.56505	.	.	ENSG00000132128	ENST00000343304	T	0.62788	-0.0	5.35	5.35	0.76521	.	0.000000	0.53938	D	0.000057	T	0.69115	0.3075	L	0.32530	0.975	0.49299	D	0.999774	D	0.76494	0.999	D	0.83275	0.996	T	0.71283	-0.4639	10	0.66056	D	0.02	-5.0221	12.4128	0.55476	0.0771:0.0:0.9229:0.0	.	756	Q15345	LRC41_HUMAN	M	756	ENSP00000343298:L756M	ENSP00000343298:L756M	L	-	1	2	LRRC41	46517297	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.744000	0.62118	2.505000	0.84491	0.484000	0.47621	CTG		0.582	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1		NM_006369		11	64	1	0	1.5842e-08	0.001855	1.69292e-08	11	64		
ZYG11B	79699	broad.mit.edu	37	1	53287142	53287142	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:53287142A>C	ENST00000294353.6	+	14	2221	c.2076A>C	c.(2074-2076)gaA>gaC	p.E692D	ZYG11B_ENST00000443756.2_Missense_Mutation_p.E622D	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	692										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TGATTGAAGAAGGAGGATTGC	0.358																																						uc001cuj.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(2074-2076)GAA>GAC		zyg-11 homolog B							88.0	76.0	80.0					1																	53287142		2203	4300	6503	SO:0001583	missense	79699						protein binding	g.chr1:53287142A>C	AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.2076A>C	1.37:g.53287142A>C	ENSP00000294353:p.Glu692Asp					ZYG11B_uc010onj.1_Missense_Mutation_p.E613D|ZYG11B_uc009vzh.2_Missense_Mutation_p.E114D	p.E692D	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN			14	2271	+			692					Q8N2X3|Q9H8L8	Missense_Mutation	SNP	ENST00000294353.6	37	c.2076A>C	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	A	16.56	3.156471	0.57259	.	.	ENSG00000162378	ENST00000443756;ENST00000294353	T;T	0.51325	0.71;0.71	5.36	5.36	0.76844	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57051	0.2027	M	0.80746	2.51	0.80722	D	1	P;P	0.42908	0.694;0.793	P;B	0.46389	0.515;0.365	T	0.62469	-0.6848	10	0.54805	T	0.06	.	11.361	0.49644	0.9266:0.0:0.0734:0.0	.	622;692	B4DK95;Q9C0D3	.;ZY11B_HUMAN	D	622;692	ENSP00000400522:E622D;ENSP00000294353:E692D	ENSP00000294353:E692D	E	+	3	2	ZYG11B	53059730	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.881000	0.56152	2.019000	0.59389	0.482000	0.46254	GAA		0.358	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1		NM_024646		4	55	0	0	0	0.009096	0	4	55		
PODN	127435	broad.mit.edu	37	1	53544320	53544320	+	Missense_Mutation	SNP	C	C	A	rs565188216	byFrequency	TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:53544320C>A	ENST00000312553.5	+	8	1289	c.1282C>A	c.(1282-1284)Cgc>Agc	p.R428S	PODN_ENST00000395871.2_Missense_Mutation_p.R286S|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000371500.3_Missense_Mutation_p.R409S	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	380					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGGCCTGCCTCGCCGCGTGCG	0.632																																						uc001cuv.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1282-1284)CGC>AGC		podocan							106.0	93.0	97.0					1																	53544320		2203	4300	6503	SO:0001583	missense	127435				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	g.chr1:53544320C>A	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.1282C>A	1.37:g.53544320C>A	ENSP00000308315:p.Arg428Ser					PODN_uc001cuw.2_Missense_Mutation_p.R409S|PODN_uc010onr.1_Missense_Mutation_p.R409S|PODN_uc010ons.1_Missense_Mutation_p.R286S	p.R428S	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN			8	1289	+			380			LRR 12.		B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	c.1282C>A	CCDS573.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525523	0.64860	.	.	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	T;T;T	0.22743	3.71;1.94;2.35	4.81	4.81	0.61882	.	0.054653	0.64402	D	0.000001	T	0.32406	0.0828	L	0.37897	1.145	0.40920	D	0.984304	B;D;D	0.64830	0.351;0.994;0.987	B;D;P	0.65684	0.277;0.937;0.875	T	0.01800	-1.1271	10	0.26408	T	0.33	.	13.8727	0.63629	0.153:0.847:0.0:0.0	.	286;409;428	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	S	409;286;428	ENSP00000360555:R409S;ENSP00000379212:R286S;ENSP00000308315:R428S	ENSP00000308315:R428S	R	+	1	0	PODN	53316908	0.998000	0.40836	1.000000	0.80357	0.946000	0.59487	3.802000	0.55553	2.492000	0.84095	0.555000	0.69702	CGC		0.632	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1		NM_153703		44	148	1	0	1.76056e-25	0.011902	2.00733e-25	44	148		
USP1	7398	broad.mit.edu	37	1	62916526	62916526	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:62916526G>C	ENST00000339950.4	+	9	3047	c.2232G>C	c.(2230-2232)gaG>gaC	p.E744D	USP1_ENST00000371146.1_Missense_Mutation_p.E744D	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	744	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AGGAGTATGAGGGGAAGTGGT	0.373																																					Ovarian(122;1846 2315 3982 19504)	uc001daj.1		NaN																	0				ovary(1)	1						c.(2230-2232)GAG>GAC		ubiquitin specific protease 1							129.0	136.0	134.0					1																	62916526		2203	4300	6503	SO:0001583	missense	7398				DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:62916526G>C		CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"""Ubiquitin-specific peptidases"""	12607	protein-coding gene	gene with protein product		603478	"""ubiquitin specific protease 1"""			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.2232G>C	1.37:g.62916526G>C	ENSP00000343526:p.Glu744Asp					USP1_uc001dak.1_Missense_Mutation_p.E744D|USP1_uc001dal.1_Missense_Mutation_p.E744D	p.E744D	NM_001017415	NP_001017415	O94782	UBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)	9	2560	+		all_neural(321;0.0281)	744					A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	ENST00000339950.4	37	c.2232G>C	CCDS621.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.518942	0.44866	.	.	ENSG00000162607	ENST00000371146;ENST00000339950	T;T	0.72615	-0.67;-0.67	5.55	2.7	0.31948	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.207800	0.49305	D	0.000151	T	0.68805	0.3041	L	0.27053	0.805	0.42323	D	0.992264	D	0.76494	0.999	P	0.61070	0.883	T	0.66964	-0.5790	10	0.48119	T	0.1	-15.1886	9.3126	0.37915	0.3437:0.0:0.6563:0.0	.	744	O94782	UBP1_HUMAN	D	744	ENSP00000360188:E744D;ENSP00000343526:E744D	ENSP00000343526:E744D	E	+	3	2	USP1	62689114	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.040000	0.30278	0.458000	0.26988	0.655000	0.94253	GAG		0.373	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024881.1		NM_001017415		12	56	0	0	0	0.010729	0	12	56		
SGIP1	84251	broad.mit.edu	37	1	67155919	67155919	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:67155919T>C	ENST00000371037.4	+	17	1567	c.1490T>C	c.(1489-1491)aTa>aCa	p.I497T	SGIP1_ENST00000371035.3_Missense_Mutation_p.I287T|SGIP1_ENST00000237247.6_Missense_Mutation_p.I528T|SGIP1_ENST00000371039.1_Missense_Mutation_p.I298T|SGIP1_ENST00000371036.3_Missense_Mutation_p.I297T	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	497	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCTCCTCCAATAGCACCCTTA	0.458																																						uc001dcr.2		NaN																	0				ovary(3)	3						c.(1489-1491)ATA>ACA		SH3-domain GRB2-like (endophilin) interacting							170.0	163.0	165.0					1																	67155919		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67155919T>C	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1490T>C	1.37:g.67155919T>C	ENSP00000360076:p.Ile497Thr					SGIP1_uc010opd.1_Missense_Mutation_p.I97T|SGIP1_uc001dcs.2_Missense_Mutation_p.I97T|SGIP1_uc001dct.2_Missense_Mutation_p.I97T|SGIP1_uc009wat.2_Missense_Mutation_p.I291T	p.I497T	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			17	1707	+			497			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1490T>C	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.790552	0.70337	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T	0.02944	4.1;4.1;4.1;4.1;4.1	6.04	6.04	0.98038	.	0.087165	0.85682	D	0.000000	T	0.04272	0.0118	L	0.41236	1.265	0.34172	D	0.669886	D;B;B;P	0.63880	0.993;0.281;0.18;0.842	D;B;B;B	0.72338	0.977;0.04;0.04;0.395	T	0.55736	-0.8094	10	0.13108	T	0.6	-15.4228	16.5763	0.84648	0.0:0.0:0.0:1.0	.	527;97;287;497	A6NEV3;B3KR01;B7Z5H8;Q9BQI5	.;.;.;SGIP1_HUMAN	T	528;298;287;527;500;297;497	ENSP00000237247:I528T;ENSP00000360078:I298T;ENSP00000360074:I287T;ENSP00000360075:I297T;ENSP00000360076:I497T	ENSP00000237247:I528T	I	+	2	0	SGIP1	66928507	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.665000	0.83852	2.317000	0.78254	0.459000	0.35465	ATA		0.458	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4		NM_032291		17	235	0	0	0	0.007413	0	17	235		
ABCD3	5825	broad.mit.edu	37	1	94943841	94943841	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:94943841C>G	ENST00000370214.4	+	8	678	c.654C>G	c.(652-654)atC>atG	p.I218M	ABCD3_ENST00000536817.1_Missense_Mutation_p.I145M|ABCD3_ENST00000454898.2_Missense_Mutation_p.I242M|ABCD3_ENST00000315713.5_Missense_Mutation_p.I218M|ABCD3_ENST00000394233.2_Missense_Mutation_p.I218M	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	218	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTTTGTATATCTTTAAGTTAA	0.259																																						uc001dqn.3		NaN																	0				skin(1)	1						c.(652-654)ATC>ATG		ATP-binding cassette, sub-family D, member 3							63.0	67.0	66.0					1																	94943841		2201	4288	6489	SO:0001583	missense	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94943841C>G	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.654C>G	1.37:g.94943841C>G	ENSP00000359233:p.Ile218Met					ABCD3_uc001dqm.3_Missense_Mutation_p.I218M|ABCD3_uc010oto.1_Missense_Mutation_p.I242M|ABCD3_uc010otp.1_Missense_Mutation_p.I145M|ABCD3_uc009wdr.2_Missense_Mutation_p.I218M	p.I218M	NM_002858	NP_002849	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	8	756	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	218			ABC transmembrane type-1.		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	ENST00000370214.4	37	c.654C>G	CCDS749.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.401050	0.62288	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214;ENST00000315713	D;D;D;D;D	0.99652	-3.61;-3.61;-3.61;-3.61;-6.3	5.53	4.57	0.56435	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99137	0.9702	L	0.50919	1.6	0.58432	D	0.999994	P;D;P;P	0.71674	0.855;0.998;0.843;0.925	P;D;P;P	0.70227	0.738;0.968;0.738;0.689	D	0.99360	1.0917	10	0.59425	D	0.04	-13.7223	10.5678	0.45184	0.0:0.8962:0.0:0.1038	.	242;218;218;218	E7EUE1;P28288-2;P28288;P28288-3	.;.;ABCD3_HUMAN;.	M	218;242;145;218;218	ENSP00000377780:I218M;ENSP00000403357:I242M;ENSP00000440692:I145M;ENSP00000359233:I218M;ENSP00000326880:I218M	ENSP00000326880:I218M	I	+	3	3	ABCD3	94716429	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.005000	0.57075	1.341000	0.45600	0.655000	0.94253	ATC		0.259	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1		NM_002858		4	27	0	0	0	0.000602	0	4	27		
KCNA2	3737	broad.mit.edu	37	1	111146504	111146504	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:111146504C>T	ENST00000485317.1	-	3	1574	c.901G>A	c.(901-903)Gtc>Atc	p.V301I	KCNA2_ENST00000316361.4_Missense_Mutation_p.V301I|KCNA2_ENST00000440270.1_Missense_Mutation_p.V301I|KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000525120.1_5'Flank			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	301					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	ATCCTAAAGACTCTTACCAAC	0.527																																					Pancreas(18;568 735 10587 23710 36357)	uc001dzu.2		NaN																	0				ovary(1)	1						c.(901-903)GTC>ATC		potassium voltage-gated channel, shaker-related							97.0	99.0	98.0					1																	111146504		2203	4300	6503	SO:0001583	missense	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111146504C>T	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.901G>A	1.37:g.111146504C>T	ENSP00000433109:p.Val301Ile					KCNA2_uc009wfv.1_Intron|KCNA2_uc009wfw.2_Missense_Mutation_p.V301I	p.V301I	NM_004974	NP_004965	P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	2	1397	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	301			Helical; Voltage-sensor; Name=Segment S4; (Potential).		Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	c.901G>A	CCDS827.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099628	0.76983	.	.	ENSG00000177301	ENST00000485317;ENST00000440270;ENST00000316361	D;D;D	0.98362	-4.89;-4.89;-4.89	5.87	5.87	0.94306	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98182	0.9399	L	0.43554	1.36	0.80722	D	1	D	0.62365	0.991	D	0.76071	0.987	D	0.97411	1.0002	10	0.32370	T	0.25	.	20.2182	0.98305	0.0:1.0:0.0:0.0	.	301	P16389	KCNA2_HUMAN	I	301	ENSP00000433109:V301I;ENSP00000415257:V301I;ENSP00000314520:V301I	ENSP00000314520:V301I	V	-	1	0	KCNA2	110948027	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.785000	0.95823	0.655000	0.94253	GTC		0.527	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2		NM_004974		37	162	0	0	0	0.004289	0	37	162		
TSPAN2	10100	broad.mit.edu	37	1	115600206	115600206	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:115600206G>C	ENST00000369516.2	-	6	499	c.468C>G	c.(466-468)agC>agG	p.S156R	TSPAN2_ENST00000491992.1_5'UTR|TSPAN2_ENST00000369515.2_Missense_Mutation_p.S131R|TSPAN2_ENST00000369514.2_Missense_Mutation_p.S156R	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	156					astrocyte development (GO:0014002)|axon development (GO:0061564)|brain development (GO:0007420)|inflammatory response (GO:0006954)|microglia development (GO:0014005)|myelination (GO:0042552)|oligodendrocyte differentiation (GO:0048709)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CCTGTTCGGAGCTTTCTTTTC	0.493																																						uc001eft.2		NaN																	0					0						c.(466-468)AGC>AGG		tetraspan 2							172.0	181.0	178.0					1																	115600206		2203	4300	6503	SO:0001583	missense	10100					integral to membrane		g.chr1:115600206G>C	AF054839	CCDS881.1	1p13.1	2013-02-14			ENSG00000134198	ENSG00000134198		"""Tetraspanins"""	20659	protein-coding gene	gene with protein product		613133				9714763, 11739647	Standard	NM_005725		Approved	TSPAN-2, TSN2, FLJ12082	uc001eft.3	O60636	OTTHUMG00000011878	ENST00000369516.2:c.468C>G	1.37:g.115600206G>C	ENSP00000358529:p.Ser156Arg						p.S156R	NM_005725	NP_005716	O60636	TSN2_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	6	530	-	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)	156			Extracellular (Potential).		D6PTH4|Q5TET2|Q8WU05	Missense_Mutation	SNP	ENST00000369516.2	37	c.468C>G	CCDS881.1	.	.	.	.	.	.	.	.	.	.	G	9.025	0.985839	0.18889	.	.	ENSG00000134198	ENST00000369516;ENST00000369515;ENST00000433172;ENST00000369514	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	5.7	-1.86	0.07760	Tetraspanin, EC2 domain (1);CD81 extracellular domain (1);	.	.	.	.	T	0.75961	0.3921	M	0.70903	2.155	0.28890	N	0.893895	B	0.28208	0.203	B	0.28638	0.092	T	0.66488	-0.5911	9	0.72032	D	0.01	.	5.0771	0.14638	0.4906:0.0:0.3648:0.1446	.	156	O60636	TSN2_HUMAN	R	156;131;150;156	ENSP00000358529:S156R;ENSP00000358528:S131R;ENSP00000415256:S150R;ENSP00000358527:S156R	ENSP00000358527:S156R	S	-	3	2	TSPAN2	115401729	0.824000	0.29247	0.709000	0.30452	0.083000	0.17756	-0.107000	0.10873	-0.386000	0.07821	0.655000	0.94253	AGC		0.493	TSPAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032828.1		NM_005725		23	269	0	0	0	0.007291	0	23	269		
ITGA10	8515	broad.mit.edu	37	1	145534181	145534181	+	Silent	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:145534181T>C	ENST00000369304.3	+	14	1861	c.1686T>C	c.(1684-1686)gaT>gaC	p.D562D	ITGA10_ENST00000539363.1_Silent_p.D419D|ITGA10_ENST00000538811.1_Silent_p.D431D	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	562					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGAACCAAGATGGTTTTGCTG	0.582																																						uc001eoa.2		NaN																	0				lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8						c.(1684-1686)GAT>GAC		integrin, alpha 10 precursor							122.0	129.0	127.0					1																	145534181		2203	4300	6503	SO:0001819	synonymous_variant	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145534181T>C	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1686T>C	1.37:g.145534181T>C						NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Silent_p.D431D|ITGA10_uc009wiw.2_Silent_p.D419D|ITGA10_uc010oyw.1_Silent_p.D507D	p.D562D	NM_003637	NP_003628	O75578	ITA10_HUMAN			14	1762	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		562			Potential.|Extracellular (Potential).|FG-GAP 6.		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Silent	SNP	ENST00000369304.3	37	c.1686T>C	CCDS918.1																																																																																				0.582	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2		NM_003637		37	489	0	0	0	0.005524	0	37	489		
C1orf54	79630	broad.mit.edu	37	1	150246527	150246527	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:150246527T>A	ENST00000369102.1	+	4	854	c.84T>A	c.(82-84)gaT>gaA	p.D28E	C1orf54_ENST00000369099.3_Missense_Mutation_p.D28E|C1orf54_ENST00000369098.3_Missense_Mutation_p.D28E			Q8WWF1	CA054_HUMAN	chromosome 1 open reading frame 54	28						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGGAGAGGATGAATATTATC	0.448																																						uc001eud.2		NaN																	0					0						c.(82-84)GAT>GAA		hypothetical protein LOC79630 precursor							172.0	176.0	175.0					1																	150246527		2203	4300	6503	SO:0001583	missense	79630					extracellular region		g.chr1:150246527T>A	BC017761	CCDS948.1, CCDS72905.1	1q21.2	2012-06-25			ENSG00000118292	ENSG00000118292			26258	protein-coding gene	gene with protein product						12477932	Standard	NM_024579		Approved	FLJ23221	uc001eud.3	Q8WWF1	OTTHUMG00000012546	ENST00000369102.1:c.84T>A	1.37:g.150246527T>A	ENSP00000358098:p.Asp28Glu					C1orf54_uc001euc.2_Missense_Mutation_p.D28E|C1orf54_uc001eue.2_Missense_Mutation_p.D28E|C1orf54_uc001euf.2_Missense_Mutation_p.D28E|C1orf54_uc001eug.2_Missense_Mutation_p.D28E	p.D28E	NM_024579	NP_078855	Q8WWF1	CA054_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	122	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		28					Q9H5P3	Missense_Mutation	SNP	ENST00000369102.1	37	c.84T>A	CCDS948.1	.	.	.	.	.	.	.	.	.	.	T	13.31	2.198136	0.38806	.	.	ENSG00000118292	ENST00000369102;ENST00000369099;ENST00000369098	.	.	.	4.75	0.974	0.19715	.	1.886180	0.02448	N	0.085257	T	0.23054	0.0557	L	0.55481	1.735	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.22800	-1.0206	9	0.87932	D	0	0.086	5.3709	0.16138	0.0:0.0979:0.3925:0.5096	.	28;28	Q5TB16;Q8WWF1	.;CA054_HUMAN	E	28	.	ENSP00000358094:D28E	D	+	3	2	C1orf54	148513151	0.006000	0.16342	0.003000	0.11579	0.592000	0.36648	-0.274000	0.08537	0.058000	0.16222	-0.250000	0.11733	GAT		0.448	C1orf54-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035055.1		NM_024579		30	325	0	0	0	0.012213	0	30	325		
SETDB1	9869	broad.mit.edu	37	1	150915383	150915383	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:150915383G>A	ENST00000271640.5	+	7	919	c.729G>A	c.(727-729)tcG>tcA	p.S243S	SETDB1_ENST00000368962.2_Silent_p.S243S|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Silent_p.S243S|SETDB1_ENST00000368963.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	243					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTCTACTGTCGGGGAACCATA	0.453																																						uc001evu.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(727-729)TCG>TCA		SET domain, bifurcated 1 isoform 1							94.0	93.0	93.0					1																	150915383		2203	4300	6503	SO:0001819	synonymous_variant	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150915383G>A	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.729G>A	1.37:g.150915383G>A						SETDB1_uc009wmf.2_Silent_p.S243S|SETDB1_uc001evv.2_Silent_p.S243S|SETDB1_uc001evw.3_Silent_p.S243S|SETDB1_uc009wmg.1_Silent_p.S243S	p.S243S	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		7	919	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		243					A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Silent	SNP	ENST00000271640.5	37	c.729G>A	CCDS44217.1																																																																																				0.453	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2				17	260	0	0	0	0.008871	0	17	260		
FLG	2312	broad.mit.edu	37	1	152279926	152279926	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:152279926T>G	ENST00000368799.1	-	3	7471	c.7436A>C	c.(7435-7437)gAg>gCg	p.E2479A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2479	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TACCAATTGCTCGTAGTGGGA	0.572									Ichthyosis																													uc001ezu.1		NaN																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(7435-7437)GAG>GCG		filaggrin							355.0	329.0	338.0					1																	152279926		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279926T>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7436A>C	1.37:g.152279926T>G	ENSP00000357789:p.Glu2479Ala						p.E2479A	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7472	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2479			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.7436A>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	7.315	0.615834	0.14129	.	.	ENSG00000143631	ENST00000368799	T	0.01599	4.74	3.27	0.204	0.15199	.	.	.	.	.	T	0.00784	0.0026	M	0.81802	2.56	0.09310	N	1	B	0.25351	0.124	B	0.24701	0.055	T	0.48352	-0.9043	9	0.11182	T	0.66	.	4.6511	0.12596	0.0:0.4162:0.0:0.5838	.	2479	P20930	FILA_HUMAN	A	2479	ENSP00000357789:E2479A	ENSP00000357789:E2479A	E	-	2	0	FLG	150546550	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-1.211000	0.02997	0.252000	0.21531	0.254000	0.18369	GAG		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		74	870	0	0	0	0.00361	0	74	870		
DCST1	149095	broad.mit.edu	37	1	155018907	155018907	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:155018907C>T	ENST00000295542.1	+	13	1536	c.1440C>T	c.(1438-1440)ctC>ctT	p.L480L	DCST1_ENST00000368419.2_Silent_p.L480L|DCST1_ENST00000423025.2_Silent_p.L455L|RP11-307C12.11_ENST00000452962.1_RNA|DCST1_ENST00000392480.1_Silent_p.L480L	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	480						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			ACTGGGCTCTCTACTCCATCT	0.612																																						uc001fgn.1		NaN																	0				ovary(1)|skin(1)	2						c.(1438-1440)CTC>CTT		DC-STAMP domain containing 1 isoform 1							187.0	135.0	152.0					1																	155018907		2203	4300	6503	SO:0001819	synonymous_variant	149095					integral to membrane	zinc ion binding	g.chr1:155018907C>T	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.1440C>T	1.37:g.155018907C>T						DCST1_uc010per.1_Silent_p.L505L|DCST1_uc010pes.1_Silent_p.L455L|uc001fgo.2_Intron	p.L480L	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		13	1536	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		480			Helical; (Potential).		B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Silent	SNP	ENST00000295542.1	37	c.1440C>T	CCDS1083.1																																																																																				0.612	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1		NM_152494		16	186	0	0	0	0.004007	0	16	186		
THBS3	7059	broad.mit.edu	37	1	155172605	155172605	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:155172605C>T	ENST00000368378.3	-	8	975	c.955G>A	c.(955-957)Gag>Aag	p.E319K	RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000541576.1_5'Flank|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.E199K|THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	319	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCCTCACCTCATTGATGTCA	0.607																																						uc001fix.2		NaN																	0				breast(3)|ovary(2)	5						c.(955-957)GAG>AAG		thrombospondin 3 precursor							55.0	57.0	57.0					1																	155172605		2203	4299	6502	SO:0001583	missense	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155172605C>T	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.955G>A	1.37:g.155172605C>T	ENSP00000357362:p.Glu319Lys					RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Missense_Mutation_p.E310K|THBS3_uc001fiz.2_Missense_Mutation_p.E319K|THBS3_uc001fiy.2_5'UTR|THBS3_uc010pfu.1_Missense_Mutation_p.E199K|THBS3_uc010pfv.1_RNA|THBS3_uc001fja.2_RNA	p.E319K	NM_007112	NP_009043	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		8	978	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		319			EGF-like 2; calcium-binding (Potential).		B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.955G>A	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	C	34	5.381206	0.95945	.	.	ENSG00000169231	ENST00000368378;ENST00000457183;ENST00000428962	D;D;D	0.98849	-5.18;-5.18;-5.18	4.98	4.98	0.66077	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99318	0.9761	M	0.92880	3.355	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.78314	0.991;0.991;0.991;0.991	D	0.98951	1.0794	10	0.72032	D	0.01	-36.9522	16.1227	0.81373	0.0:1.0:0.0:0.0	.	199;319;319;319	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	K	319;199;169	ENSP00000357362:E319K;ENSP00000392207:E199K;ENSP00000404040:E169K	ENSP00000357362:E319K	E	-	1	0	THBS3	153439229	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.583000	0.82559	2.755000	0.94549	0.655000	0.94253	GAG		0.607	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1		NM_007112		42	143	0	0	0	0.00361	0	42	143		
DAP3	7818	broad.mit.edu	37	1	155698905	155698905	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:155698905G>A	ENST00000368336.5	+	8	800	c.676G>A	c.(676-678)Gtt>Att	p.V226I	MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000343043.3_Missense_Mutation_p.V226I|DAP3_ENST00000535183.1_Missense_Mutation_p.V185I|DAP3_ENST00000421487.2_Missense_Mutation_p.V192I|DAP3_ENST00000471642.2_Missense_Mutation_p.V185I	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	226					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GGGAGAAGTGGTTGAACAGGT	0.398																																						uc001flq.2		NaN																	0				ovary(1)	1						c.(676-678)GTT>ATT		death-associated protein 3							107.0	116.0	113.0					1																	155698905		2203	4300	6503	SO:0001583	missense	7818				induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding	g.chr1:155698905G>A	X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.676G>A	1.37:g.155698905G>A	ENSP00000357320:p.Val226Ile					DAP3_uc001flr.2_Missense_Mutation_p.V226I|DAP3_uc001fls.2_Missense_Mutation_p.V226I|DAP3_uc010pgl.1_Missense_Mutation_p.V185I|DAP3_uc001flt.2_Missense_Mutation_p.V192I|DAP3_uc001flu.2_Intron|DAP3_uc010pgm.1_Missense_Mutation_p.V192I	p.V226I	NM_033657	NP_387506	P51398	RT29_HUMAN			8	845	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		226					B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Missense_Mutation	SNP	ENST00000368336.5	37	c.676G>A	CCDS1120.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804962	0.50315	.	.	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487;ENST00000535183	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.55	3.64	0.41730	.	0.116877	0.64402	N	0.000020	T	0.20414	0.0491	L	0.31157	0.91	0.41553	D	0.988584	P;P;P	0.40476	0.718;0.718;0.718	B;P;B	0.46208	0.429;0.507;0.429	T	0.03130	-1.1069	10	0.32370	T	0.25	-14.9193	8.2096	0.31476	0.2549:0.0:0.7451:0.0	.	185;192;226	B4DP59;E7EM60;P51398	.;.;RT29_HUMAN	I	226;226;192;185	ENSP00000357320:V226I;ENSP00000341692:V226I;ENSP00000412605:V192I;ENSP00000445003:V185I	ENSP00000341692:V226I	V	+	1	0	DAP3	153965529	1.000000	0.71417	0.083000	0.20561	0.993000	0.82548	2.546000	0.45778	0.859000	0.35456	0.585000	0.79938	GTT		0.398	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1		NM_004632		10	152	0	0	0	0.008291	0	10	152		
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:155887393T>G	ENST00000368321.3	-	11	1360	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_ENST00000368320.3_Missense_Mutation_p.Q446P|SNORA42_ENST00000384744.1_RNA	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	446	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567																																						uc001fmi.1		NaN																	0					0						c.(1336-1338)CAG>CCG		hypothetical protein LOC22889							14.0	18.0	16.0					1																	155887393		2157	4273	6430	SO:0001583	missense	22889							g.chr1:155887393T>G	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1337A>C	1.37:g.155887393T>G	ENSP00000357304:p.Gln446Pro					KIAA0907_uc001fmj.1_Missense_Mutation_p.Q446P|KIAA0907_uc009wrk.1_Missense_Mutation_p.Q303P|KIAA0907_uc009wrl.1_RNA	p.Q446P	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1361	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		446			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1337A>C	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.413076	0.25465	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T;T	0.32753	1.44;1.44	5.76	0.471	0.16752	.	0.977681	0.08344	N	0.960281	T	0.04003	0.0112	N	0.03608	-0.345	0.29419	N	0.860713	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43442	-0.9391	10	0.22706	T	0.39	.	8.2981	0.31997	0.1873:0.0:0.4136:0.3991	.	446;446	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	P	446	ENSP00000357304:Q446P;ENSP00000357303:Q446P	ENSP00000357303:Q446P	Q	-	2	0	KIAA0907	154154017	0.988000	0.35896	0.899000	0.35326	0.963000	0.63663	-0.615000	0.05597	-0.064000	0.13043	0.533000	0.62120	CAG		0.567	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1		NM_014949		21	91	0	0	0	0.007291	0	21	91		
RXFP4	339403	broad.mit.edu	37	1	155912334	155912334	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:155912334C>T	ENST00000368318.3	+	1	855	c.834C>T	c.(832-834)ccC>ccT	p.P278P		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					ACCTGGTGCCCTGGAACAGTA	0.537																																						uc010pgs.1		NaN																	0					0						c.(832-834)CCC>CCT		relaxin 3 receptor 2							118.0	107.0	110.0					1																	155912334		2203	4300	6503	SO:0001819	synonymous_variant	339403					integral to membrane|plasma membrane	angiotensin type II receptor activity	g.chr1:155912334C>T	AB065617	CCDS1124.1	1q22	2012-08-08	2006-05-09	2006-03-15	ENSG00000173080	ENSG00000173080		"""GPCR / Class A : Relaxin family peptide receptors"""	14666	protein-coding gene	gene with protein product		609043	"""G protein-coupled receptor 100"", ""relaxin 3 receptor 2"", ""relaxin family peptide receptor 4"""	GPR100, RLN3R2		15956688, 16507880	Standard	NM_181885		Approved	GPCR142, RXFPR4	uc010pgs.2	Q8TDU9	OTTHUMG00000017463	ENST00000368318.3:c.834C>T	1.37:g.155912334C>T							p.P278P	NM_181885	NP_871001	Q8TDU9	RL3R2_HUMAN			1	855	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		278			Extracellular (Potential).		B0M0L4|Q3MJB1|Q8NGZ8	Silent	SNP	ENST00000368318.3	37	c.834C>T	CCDS1124.1																																																																																				0.537	RXFP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046203.1		NM_181885		172	204	0	0	0	0.00361	0	172	204		
ARHGAP30	257106	broad.mit.edu	37	1	161021373	161021373	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:161021373G>C	ENST00000368013.3	-	10	1471	c.1151C>G	c.(1150-1152)tCt>tGt	p.S384C	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.S207C|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.S384C	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	384					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GCCTGGTTCAGAGTTTGTGCC	0.607																																						uc001fxl.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1150-1152)TCT>TGT		Rho GTPase activating protein 30 isoform 1							94.0	80.0	85.0					1																	161021373		2203	4300	6503	SO:0001583	missense	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161021373G>C	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.1151C>G	1.37:g.161021373G>C	ENSP00000356992:p.Ser384Cys					ARHGAP30_uc001fxk.2_Missense_Mutation_p.S384C|ARHGAP30_uc001fxm.2_Missense_Mutation_p.S230C|ARHGAP30_uc009wtx.2_Missense_Mutation_p.S57C|ARHGAP30_uc001fxn.1_Missense_Mutation_p.S230C	p.S384C	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		10	1497	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		384					Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	c.1151C>G	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360494	0.82353	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368017;ENST00000368015	T;T;T	0.41758	2.68;2.52;0.99	4.74	4.74	0.60224	.	0.201080	0.31734	N	0.007158	T	0.41143	0.1146	L	0.34521	1.04	0.46521	D	0.999089	D;D	0.76494	0.994;0.999	P;P	0.60236	0.707;0.871	T	0.43212	-0.9405	10	0.87932	D	0	.	15.6322	0.76920	0.0:0.0:1.0:0.0	.	384;384	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	C	384;384;236;207	ENSP00000356995:S384C;ENSP00000356992:S384C;ENSP00000356994:S207C	ENSP00000356992:S384C	S	-	2	0	ARHGAP30	159287997	1.000000	0.71417	0.331000	0.25455	0.974000	0.67602	6.129000	0.71657	2.353000	0.79882	0.555000	0.69702	TCT		0.607	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2		NM_181720		47	257	0	0	0	0.00361	0	47	257		
USP21	27005	broad.mit.edu	37	1	161130596	161130596	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:161130596C>T	ENST00000289865.8	+	2	387	c.166C>T	c.(166-168)Cca>Tca	p.P56S	USP21_ENST00000368001.1_Missense_Mutation_p.P56S|RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000368002.3_Missense_Mutation_p.P56S	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	56					histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCCTCCCCGGCCAGGTCTGCC	0.642																																						uc010pke.1		NaN																	0				ovary(2)|lung(1)|prostate(1)|breast(1)	5						c.(166-168)CCA>TCA		ubiquitin-specific protease 21							53.0	55.0	54.0					1																	161130596		2203	4300	6503	SO:0001583	missense	27005				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:161130596C>T	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.166C>T	1.37:g.161130596C>T	ENSP00000289865:p.Pro56Ser					USP21_uc010pkc.1_Missense_Mutation_p.P56S|USP21_uc010pkd.1_Missense_Mutation_p.P56S|USP21_uc010pkf.1_Missense_Mutation_p.P56S	p.P56S	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		3	543	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		56					Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	ENST00000289865.8	37	c.166C>T	CCDS30920.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187179	0.78789	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.28666	1.77;1.77;1.6	5.14	5.14	0.70334	.	0.224065	0.32081	N	0.006611	T	0.32645	0.0836	N	0.19112	0.55	0.39868	D	0.973467	D	0.89917	1.0	D	0.79108	0.992	T	0.20009	-1.0288	10	0.54805	T	0.06	.	17.538	0.87839	0.0:1.0:0.0:0.0	.	56	Q9UK80	UBP21_HUMAN	S	56	ENSP00000356981:P56S;ENSP00000289865:P56S;ENSP00000356980:P56S	ENSP00000289865:P56S	P	+	1	0	USP21	159397220	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.334000	0.59291	2.666000	0.90696	0.561000	0.74099	CCA		0.642	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1				11	242	0	0	0	0.008291	0	11	242		
OLFML2B	25903	broad.mit.edu	37	1	161954646	161954646	+	Silent	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:161954646A>G	ENST00000294794.3	-	7	2022	c.1599T>C	c.(1597-1599)taT>taC	p.Y533Y	OLFML2B_ENST00000367938.1_Silent_p.Y16Y|OLFML2B_ENST00000367940.2_Silent_p.Y534Y	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	533	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGCCGTAGTAATAGTTGGTTA	0.537																																						uc001gbu.2		NaN																	0				skin(1)	1						c.(1597-1599)TAT>TAC		olfactomedin-like 2B precursor							278.0	256.0	263.0					1																	161954646		2203	4300	6503	SO:0001819	synonymous_variant	25903							g.chr1:161954646A>G	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1599T>C	1.37:g.161954646A>G						OLFML2B_uc001gbt.2_Silent_p.Y16Y|OLFML2B_uc010pkq.1_Silent_p.Y534Y	p.Y533Y	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		7	2023	-	all_hematologic(112;0.156)		533			Olfactomedin-like.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	c.1599T>C	CCDS1236.1																																																																																				0.537	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2		NM_015441		76	382	0	0	0	0.00361	0	76	382		
ILDR2	387597	broad.mit.edu	37	1	166927059	166927059	+	Missense_Mutation	SNP	G	G	A	rs372736354		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:166927059G>A	ENST00000271417.3	-	2	381	c.326C>T	c.(325-327)tCg>tTg	p.S109L	ILDR2_ENST00000529387.1_Missense_Mutation_p.S109L|ILDR2_ENST00000529071.1_Missense_Mutation_p.S109L|ILDR2_ENST00000469934.2_Missense_Mutation_p.S109L|ILDR2_ENST00000528703.1_Missense_Mutation_p.S109L|ILDR2_ENST00000526687.1_Missense_Mutation_p.S109L|ILDR2_ENST00000525740.1_Missense_Mutation_p.S109L	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	109	Ig-like V-type.				cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GGTGACAGTCGAGCCCTGTTT	0.493																																						uc001gdx.1		NaN																	0				ovary(1)	1						c.(325-327)TCG>TTG		immunoglobulin-like domain containing receptor		G	LEU/SER	0,4406		0,0,2203	80.0	80.0	80.0		326	6.0	1.0	1		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	ILDR2	NM_199351.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	109/640	166927059	1,13005	2203	4300	6503	SO:0001583	missense	387597					integral to membrane		g.chr1:166927059G>A	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.326C>T	1.37:g.166927059G>A	ENSP00000271417:p.Ser109Leu						p.S109L	NM_199351	NP_955383	Q71H61	ILDR2_HUMAN			2	382	-			109			Ig-like V-type.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000271417.3	37	c.326C>T	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442948	0.83993	0.0	1.16E-4	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000529387;ENST00000469934;ENST00000529071;ENST00000526687;ENST00000528703	T;T;T;T;T;T;T	0.01705	4.68;4.68;4.68;4.68;4.68;4.68;4.68	6.03	6.03	0.97812	Immunoglobulin subtype (1);	0.182827	0.48767	D	0.000170	T	0.02083	0.0065	L	0.58101	1.795	0.42899	D	0.994226	D	0.65815	0.995	B	0.42087	0.375	T	0.58493	-0.7627	10	0.72032	D	0.01	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	109	Q71H61	ILDR2_HUMAN	L	109	ENSP00000271417:S109L;ENSP00000436120:S109L;ENSP00000431316:S109L;ENSP00000437008:S109L;ENSP00000436882:S109L;ENSP00000434273:S109L;ENSP00000432750:S109L	ENSP00000271417:S109L	S	-	2	0	ILDR2	165193683	1.000000	0.71417	0.969000	0.41365	0.735000	0.41995	6.512000	0.73737	2.854000	0.98071	0.655000	0.94253	TCG		0.493	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2		NM_199351		46	174	0	0	0	0.00361	0	46	174		
KLHL20	27252	broad.mit.edu	37	1	173754326	173754326	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:173754326C>T	ENST00000209884.4	+	12	1907	c.1771C>T	c.(1771-1773)Cgg>Tgg	p.R591W	KLHL20_ENST00000546011.1_Missense_Mutation_p.R402W	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	591					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)	p.R591W(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GAATTACCGTCGGCTAGGGGG	0.363																																					GBM(159;862 2695 6559 23041)	uc001gjc.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(1771-1773)CGG>TGG		kelch-like 20							97.0	100.0	99.0					1																	173754326		2203	4300	6503	SO:0001583	missense	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173754326C>T	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1771C>T	1.37:g.173754326C>T	ENSP00000209884:p.Arg591Trp					KLHL20_uc010pmr.1_Missense_Mutation_p.R402W|KLHL20_uc009wwf.2_Missense_Mutation_p.R573W	p.R591W	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN			12	1950	+			591			Kelch 6.		B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	c.1771C>T	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022802	0.75275	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	T;T	0.70631	-0.36;-0.5	6.06	6.06	0.98353	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.87637	0.6227	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.90365	0.4376	10	0.87932	D	0	.	14.2723	0.66159	0.149:0.851:0.0:0.0	.	402;591	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	W	402;591	ENSP00000443121:R402W;ENSP00000209884:R591W	ENSP00000209884:R591W	R	+	1	2	KLHL20	172020949	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	1.549000	0.36212	2.880000	0.98712	0.650000	0.86243	CGG		0.363	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1		NM_014458		32	44	0	0	0	0.004878	0	32	44		
TNR	7143	broad.mit.edu	37	1	175336348	175336348	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:175336348C>G	ENST00000367674.2	-	10	2757	c.2049G>C	c.(2047-2049)agG>agC	p.R683S	TNR_ENST00000263525.2_Missense_Mutation_p.R683S			Q92752	TENR_HUMAN	tenascin R	683	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACTCACCAGTCCTGGCATTCA	0.493																																						uc001gkp.1		NaN																	0				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(2047-2049)AGG>AGC		tenascin R precursor							139.0	121.0	127.0					1																	175336348		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175336348C>G	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2049G>C	1.37:g.175336348C>G	ENSP00000356646:p.Arg683Ser					TNR_uc009wwu.1_Missense_Mutation_p.R683S	p.R683S	NM_003285	NP_003276	Q92752	TENR_HUMAN			8	2130	-	Renal(580;0.146)		683			Fibronectin type-III 4.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.2049G>C	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377581	0.42105	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.55760	0.5;0.5	5.67	4.76	0.60689	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.57755	0.2075	L	0.45422	1.42	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.56098	-0.8035	10	0.07990	T	0.79	.	9.2908	0.37786	0.0:0.7775:0.1452:0.0773	.	683	Q92752	TENR_HUMAN	S	683	ENSP00000356646:R683S;ENSP00000263525:R683S	ENSP00000263525:R683S	R	-	3	2	TNR	173602971	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.157000	0.31724	1.402000	0.46780	0.655000	0.94253	AGG		0.493	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4		NM_003285		27	85	0	0	0	0.010818	0	27	85		
HMCN1	83872	broad.mit.edu	37	1	186094817	186094817	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:186094817G>C	ENST00000271588.4	+	82	12810	c.12581G>C	c.(12580-12582)gGa>gCa	p.G4194A	HMCN1_ENST00000367492.2_Missense_Mutation_p.G4194A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4194	Ig-like C2-type 41.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTAGCTGATGGAATCCCCACA	0.388																																						uc001grq.1		NaN																	0				ovary(22)|skin(1)	23						c.(12580-12582)GGA>GCA		hemicentin 1 precursor							98.0	98.0	98.0					1																	186094817		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186094817G>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12581G>C	1.37:g.186094817G>C	ENSP00000271588:p.Gly4194Ala					HMCN1_uc001grs.1_5'Flank	p.G4194A	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			82	12810	+			4194			Ig-like C2-type 41.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.12581G>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419378	0.83559	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.79141	-1.24;-1.24	5.04	5.04	0.67666	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87220	0.6123	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87081	0.2166	10	0.48119	T	0.1	.	18.7716	0.91894	0.0:0.0:1.0:0.0	.	4194	Q96RW7	HMCN1_HUMAN	A	4194	ENSP00000271588:G4194A;ENSP00000356462:G4194A	ENSP00000271588:G4194A	G	+	2	0	HMCN1	184361440	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	8.388000	0.90170	2.489000	0.83994	0.650000	0.86243	GGA		0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		26	70	0	0	0	0.00632	0	26	70		
HMCN1	83872	broad.mit.edu	37	1	186114897	186114897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:186114897G>A	ENST00000271588.4	+	93	14679	c.14450G>A	c.(14449-14451)tGg>tAg	p.W4817*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.W4817*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4817	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GATGGAAGTTGGGGAAGCTGG	0.498																																						uc001grq.1		NaN																	0				ovary(22)|skin(1)	23						c.(14449-14451)TGG>TAG		hemicentin 1 precursor							67.0	68.0	68.0					1																	186114897		2203	4300	6503	SO:0001587	stop_gained	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186114897G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14450G>A	1.37:g.186114897G>A	ENSP00000271588:p.Trp4817*					HMCN1_uc001grs.1_Nonsense_Mutation_p.W386*	p.W4817*	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			93	14679	+			4817			TSP type-1 6.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	c.14450G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	56	26.553325	0.99969	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.2606	0.93967	0.0:0.0:1.0:0.0	.	.	.	.	X	4817	.	ENSP00000271588:W4817X	W	+	2	0	HMCN1	184381520	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.402000	0.97298	2.551000	0.86045	0.655000	0.94253	TGG		0.498	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		60	75	0	0	0	0.00361	0	60	75		
ASPM	259266	broad.mit.edu	37	1	197073065	197073065	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:197073065C>T	ENST00000367409.4	-	18	5572	c.5316G>A	c.(5314-5316)ctG>ctA	p.L1772L	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1772	IQ 7. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TATACATTTTCAGATAATACT	0.358																																						uc001gtu.2		NaN																	0				ovary(4)|central_nervous_system(2)	6						c.(5314-5316)CTG>CTA		asp (abnormal spindle)-like, microcephaly							84.0	87.0	86.0					1																	197073065		2203	4298	6501	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197073065C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5316G>A	1.37:g.197073065C>T						ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	p.L1772L	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	5573	-			1772			IQ 7.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.5316G>A	CCDS1389.1																																																																																				0.358	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1		NM_018136		14	90	0	0	0	0.001855	0	14	90		
EIF2D	1939	broad.mit.edu	37	1	206782760	206782760	+	Silent	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:206782760A>C	ENST00000271764.2	-	3	508	c.300T>G	c.(298-300)ccT>ccG	p.P100P	EIF2D_ENST00000367114.3_Silent_p.P100P	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	100	PUA. {ECO:0000255|PROSITE- ProRule:PRU00161}.				formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CGAGCACCAGAGGCCATGTTG	0.438																																						uc001heh.2		NaN																	0					0						c.(298-300)CCT>CCG		ligatin							133.0	120.0	125.0					1																	206782760		2203	4300	6503	SO:0001819	synonymous_variant	1939				intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity	g.chr1:206782760A>C	BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.300T>G	1.37:g.206782760A>C						LGTN_uc009xbw.2_Silent_p.P100P|LGTN_uc010prw.1_Silent_p.P100P	p.P100P	NM_006893	NP_008824	P41214	EIF2D_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		3	509	-	Breast(84;0.183)		100			PUA.		Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Silent	SNP	ENST00000271764.2	37	c.300T>G	CCDS1465.1																																																																																				0.438	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088475.1		NM_006893		12	105	0	0	0	0.001368	0	12	105		
NENF	29937	broad.mit.edu	37	1	212617721	212617721	+	Silent	SNP	G	G	A	rs371937877		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:212617721G>A	ENST00000366988.3	+	3	336	c.279G>A	c.(277-279)ggG>ggA	p.G93G	NENF_ENST00000473900.1_3'UTR	NM_013349.4	NP_037481.1	Q9UMX5	NENF_HUMAN	neudesin neurotrophic factor	93	Cytochrome b5 heme-binding.				positive regulation of MAPK cascade (GO:0043410)	extracellular space (GO:0005615)	heme binding (GO:0020037)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(2)	4				all cancers(67;0.00967)|OV - Ovarian serous cystadenocarcinoma(81;0.0108)|GBM - Glioblastoma multiforme(131;0.0325)|Epithelial(68;0.132)		CCTTGACGGGGAAGGACTCCA	0.512																																						uc001hjd.2		NaN																	0					0						c.(277-279)GGG>GGA		neuron derived neurotrophic factor precursor		G		1,4405	2.1+/-5.4	0,1,2202	91.0	81.0	84.0		279	5.2	1.0	1		84	0,8600		0,0,4300	no	coding-synonymous	NENF	NM_013349.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		93/173	212617721	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29937					extracellular space	heme binding	g.chr1:212617721G>A		CCDS1505.1	1q32.3	2011-07-05	2011-07-05		ENSG00000117691	ENSG00000117691			30384	protein-coding gene	gene with protein product	"""neudesin"""	611874	"""neuron derived neurotrophic factor"""			9771976, 15605373	Standard	NM_013349		Approved	CIR2, SCIRP10, SPUF	uc001hjd.3	Q9UMX5	OTTHUMG00000036744	ENST00000366988.3:c.279G>A	1.37:g.212617721G>A						NENF_uc010ptf.1_RNA	p.G93G	NM_013349	NP_037481	Q9UMX5	NENF_HUMAN		all cancers(67;0.00967)|OV - Ovarian serous cystadenocarcinoma(81;0.0108)|GBM - Glioblastoma multiforme(131;0.0325)|Epithelial(68;0.132)	3	336	+			93			Cytochrome b5 heme-binding.		A1KYQ8|Q53FZ6|Q5TM90	Silent	SNP	ENST00000366988.3	37	c.279G>A	CCDS1505.1																																																																																				0.512	NENF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089291.1		NM_013349		12	93	0	0	0	0.001368	0	12	93		
KCTD3	51133	broad.mit.edu	37	1	215792292	215792292	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:215792292G>A	ENST00000259154.4	+	16	1921	c.1627G>A	c.(1627-1629)Gga>Aga	p.G543R	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	543					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GGAATGTGAGGGATCCAGTAG	0.453																																						uc001hks.2		NaN																	0				ovary(3)	3						c.(1627-1629)GGA>AGA		potassium channel tetramerisation domain							121.0	117.0	118.0					1																	215792292		2203	4300	6503	SO:0001583	missense	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215792292G>A	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.1627G>A	1.37:g.215792292G>A	ENSP00000259154:p.Gly543Arg					KCTD3_uc001hkt.2_Missense_Mutation_p.G543R|KCTD3_uc010pub.1_Missense_Mutation_p.G441R|KCTD3_uc009xdn.2_Missense_Mutation_p.G267R	p.G543R	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	16	1921	+			543			WD 5.		A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	c.1627G>A	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	G	34	5.310252	0.95629	.	.	ENSG00000136636	ENST00000259154	T	0.49720	0.77	5.6	5.6	0.85130	WD40/YVTN repeat-like-containing domain (1);	0.048019	0.85682	D	0.000000	T	0.73361	0.3577	M	0.83118	2.625	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.993	T	0.76870	-0.2799	10	0.87932	D	0	-13.5316	19.6275	0.95684	0.0:0.0:1.0:0.0	.	295;295;543;543	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597	.;.;.;KCTD3_HUMAN	R	543	ENSP00000259154:G543R	ENSP00000259154:G543R	G	+	1	0	KCTD3	213858915	1.000000	0.71417	0.218000	0.23776	0.982000	0.71751	9.476000	0.97823	2.625000	0.88918	0.650000	0.86243	GGA		0.453	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2		NM_016121		8	107	0	0	0	0.006214	0	8	107		
BPNT1	10380	broad.mit.edu	37	1	220233036	220233036	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:220233036G>T	ENST00000469520.2	-	9	1219	c.770C>A	c.(769-771)gCt>gAt	p.A257D	BPNT1_ENST00000414869.2_Missense_Mutation_p.A221D|BPNT1_ENST00000544404.1_Missense_Mutation_p.A202D|BPNT1_ENST00000322067.7_Missense_Mutation_p.A257D|BPNT1_ENST00000354807.3_Missense_Mutation_p.A272D			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	257					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		ACCTCCCACAGCATGTAAAAT	0.338																																						uc001hma.2		NaN																	0				ovary(1)	1						c.(769-771)GCT>GAT		3'(2'), 5'-bisphosphate nucleotidase 1							151.0	145.0	147.0					1																	220233036		1827	4088	5915	SO:0001583	missense	10380				3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity	g.chr1:220233036G>T	AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.770C>A	1.37:g.220233036G>T	ENSP00000446828:p.Ala257Asp					BPNT1_uc010pug.1_Missense_Mutation_p.A202D|BPNT1_uc010puh.1_Missense_Mutation_p.A221D|BPNT1_uc001hmb.3_Missense_Mutation_p.A272D	p.A257D	NM_006085	NP_006076	O95861	BPNT1_HUMAN		GBM - Glioblastoma multiforme(131;0.0558)	8	942	-			257					A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Missense_Mutation	SNP	ENST00000469520.2	37	c.770C>A	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130902	0.94473	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000544404;ENST00000414869	T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37	5.77	5.77	0.91146	Inositol monophosphatase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.83156	0.5193	H	0.96604	3.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	D	0.88099	0.2818	10	0.72032	D	0.01	.	19.9926	0.97371	0.0:0.0:1.0:0.0	.	221;272;257	B4DUS9;A6NF51;O95861	.;.;BPNT1_HUMAN	D	257;257;272;257;202;221	ENSP00000318852:A257D;ENSP00000446828:A257D;ENSP00000346862:A272D;ENSP00000444398:A202D;ENSP00000410348:A221D	ENSP00000307087:A257D	A	-	2	0	BPNT1	218299659	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.752000	0.98900	2.729000	0.93468	0.467000	0.42956	GCT		0.338	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2		NM_006085		14	136	1	0	1.5842e-08	0.001855	1.69292e-08	14	136		
AIDA	64853	broad.mit.edu	37	1	222867175	222867175	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:222867175G>C	ENST00000340020.6	-	4	451	c.245C>G	c.(244-246)tCt>tGt	p.S82C	AIDA_ENST00000541237.1_Missense_Mutation_p.S58C|AIDA_ENST00000474863.1_5'UTR|AIDA_ENST00000355727.2_Missense_Mutation_p.S82C	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	82					dorsal/ventral pattern formation (GO:0009953)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|regulation of protein homodimerization activity (GO:0043496)	cytoplasm (GO:0005737)				kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						TTCTTCTTGAGACTGTGTGGA	0.313																																						uc001hnn.2		NaN																	0					0						c.(244-246)TCT>TGT		axin interactor, dorsalization associated							97.0	100.0	99.0					1																	222867175		2202	4295	6497	SO:0001583	missense	64853				dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity			g.chr1:222867175G>C	BC043142	CCDS1533.1	1q41	2008-05-22	2008-05-22	2008-05-22	ENSG00000186063	ENSG00000186063			25761	protein-coding gene	gene with protein product	"""axin interaction partner and dorsalization antagonist"""	612375	"""chromosome 1 open reading frame 80"""	C1orf80		8619474, 9110174, 17681137	Standard	NM_022831		Approved	FLJ12806	uc001hnn.3	Q96BJ3	OTTHUMG00000037653	ENST00000340020.6:c.245C>G	1.37:g.222867175G>C	ENSP00000339161:p.Ser82Cys					AIDA_uc001hno.2_RNA|AIDA_uc010pus.1_Missense_Mutation_p.S58C	p.S82C	NM_022831	NP_073742	Q96BJ3	AIDA_HUMAN			4	450	-			82					A8K1F0|Q49A81|Q5JRA4|Q658P1|Q9H9E8	Missense_Mutation	SNP	ENST00000340020.6	37	c.245C>G	CCDS1533.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.209328	0.79240	.	.	ENSG00000186063	ENST00000340020;ENST00000355727;ENST00000541237	.	.	.	5.78	5.78	0.91487	Axin interactor, dorsalization-associated protein, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.75459	0.3852	L	0.47716	1.5	0.58432	D	0.999995	D;D	0.67145	0.996;0.987	D;D	0.76071	0.987;0.986	T	0.74839	-0.3528	9	0.54805	T	0.06	.	19.5869	0.95493	0.0:0.0:1.0:0.0	.	58;82	F5H715;Q96BJ3	.;AIDA_HUMAN	C	82;82;58	.	ENSP00000339161:S82C	S	-	2	0	AIDA	220933798	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.244000	0.72391	2.728000	0.93425	0.585000	0.79938	TCT		0.313	AIDA-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091818.1		NM_022831		11	26	0	0	0	0.010729	0	11	26		
LYST	1130	broad.mit.edu	37	1	235884050	235884050	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:235884050G>A	ENST00000389794.3	-	40	9645	c.9471C>T	c.(9469-9471)ttC>ttT	p.F3157F	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Silent_p.F3157F			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3157	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGAGATCATTGAAGGATCGGC	0.363																																						uc001hxj.2		NaN																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(9469-9471)TTC>TTT		lysosomal trafficking regulator							184.0	165.0	171.0					1																	235884050		2203	4300	6503	SO:0001819	synonymous_variant	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235884050G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.9471C>T	1.37:g.235884050G>A						LYST_uc001hxi.2_Silent_p.F381F	p.F3157F	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		40	9646	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3157			BEACH.		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.9471C>T	CCDS31062.1																																																																																				0.363	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5				38	112	0	0	0	0.005524	0	38	112		
TUBB8	347688	broad.mit.edu	37	10	95170	95170	+	Silent	SNP	C	C	T	rs561104222	byFrequency	TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:95170C>T	ENST00000309812.4	-	1	71	c.9G>A	c.(7-9)gaG>gaA	p.E3E	TUBB8_ENST00000332708.5_Silent_p.E3E|TUBB8_ENST00000413237.3_Intron|TUBB8_ENST00000447903.2_Intron	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	3					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TGAGCACGATCTCCCTCATGG	0.672													c|||	14	0.00279553	0.0008	0.0029	5008	,	,		14530	0.0		0.004	False		,,,				2504	0.0072				Pancreas(192;2041 3010 9013 18103)	uc001ifi.2		NaN																	0				ovary(1)	1						c.(7-9)GAG>GAA		tubulin, beta 8 isoform 1							18.0	16.0	17.0					10																	95170		2196	4294	6490	SO:0001819	synonymous_variant	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:95170C>T	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.9G>A	10.37:g.95170C>T						TUBB8_uc009xhe.2_Silent_p.E3E|TUBB8_uc010pzs.1_Intron	p.E3E	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	1	9	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	3					Q5SQX9|Q8WZ78	Silent	SNP	ENST00000309812.4	37	c.9G>A	CCDS7051.1																																																																																				0.672	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1		NM_177987		3	8	0	0	0	0.009096	0	3	8		
CUBN	8029	broad.mit.edu	37	10	17107518	17107518	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:17107518C>T	ENST00000377833.4	-	22	3193	c.3128G>A	c.(3127-3129)aGt>aAt	p.S1043N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1043					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTTGCTGCACTGATTGCTTC	0.423																																						uc001ioo.2		NaN																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(3127-3129)AGT>AAT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						211.0	186.0	194.0					10																	17107518		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17107518C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.3128G>A	10.37:g.17107518C>T	ENSP00000367064:p.Ser1043Asn						p.S1043N	NM_001081	NP_001072	O60494	CUBN_HUMAN			22	3180	-			1043					B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.3128G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	4.367	0.067585	0.08436	.	.	ENSG00000107611	ENST00000377833	T	0.75154	-0.91	5.92	4.8	0.61643	CUB (2);	1.425200	0.04453	N	0.372987	T	0.55513	0.1925	N	0.05230	-0.09	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23762	-1.0179	10	0.06891	T	0.86	.	11.3243	0.49440	0.0:0.072:0.0:0.9279	.	1043	O60494	CUBN_HUMAN	N	1043	ENSP00000367064:S1043N	ENSP00000367064:S1043N	S	-	2	0	CUBN	17147524	1.000000	0.71417	0.003000	0.11579	0.385000	0.30292	5.146000	0.64845	1.077000	0.40990	-0.312000	0.09012	AGT		0.423	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1		NM_001081		54	217	0	0	0	0.00361	0	54	217		
ARMC3	219681	broad.mit.edu	37	10	23250840	23250840	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:23250840G>T	ENST00000298032.5	+	7	649	c.565G>T	c.(565-567)Gaa>Taa	p.E189*	ARMC3_ENST00000409983.3_Nonsense_Mutation_p.E189*|ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409049.3_Nonsense_Mutation_p.E189*	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	189						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TAAACTTCAAGAACTAAATGC	0.333																																						uc001irm.3		NaN																	0					0						c.(565-567)GAA>TAA		armadillo repeat containing 3							93.0	91.0	91.0					10																	23250840		2203	4300	6503	SO:0001587	stop_gained	219681						binding	g.chr10:23250840G>T	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.565G>T	10.37:g.23250840G>T	ENSP00000298032:p.Glu189*					ARMC3_uc010qcv.1_Nonsense_Mutation_p.E189*|ARMC3_uc010qcw.1_Intron	p.E189*	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN			7	648	+			189			ARM 5.		A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Nonsense_Mutation	SNP	ENST00000298032.5	37	c.565G>T	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990180	0.74589	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000409049;ENST00000447081	.	.	.	5.73	5.73	0.89815	.	0.152686	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-11.4564	19.8912	0.96930	0.0:0.0:1.0:0.0	.	.	.	.	X	189;189;189;101	.	ENSP00000298032:E189X	E	+	1	0	ARMC3	23290846	1.000000	0.71417	1.000000	0.80357	0.436000	0.31835	7.416000	0.80143	2.708000	0.92522	0.650000	0.86243	GAA		0.333	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2		NM_173081		6	24	1	0	0.00198382	0.001984	0.00203612	6	24		
AGAP6	414189	broad.mit.edu	37	10	51749116	51749116	+	Intron	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:51749116A>G	ENST00000374056.4	+	1	621				AGAP6_ENST00000412531.3_Missense_Mutation_p.Q91R			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ACAATATTCCAGAGGAACTCT	0.353																																						uc001jix.3		NaN																	0				skin(1)	1						c.(271-273)CAG>CGG		ArfGAP with GTPase domain, ankyrin repeat and PH																																				SO:0001627	intron_variant	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51749116A>G		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.223+418A>G	10.37:g.51749116A>G							p.Q91R	NM_001077665	NP_001071133	Q5VW22	AGAP6_HUMAN			2	670	+			91						Missense_Mutation	SNP	ENST00000374056.4	37	c.272A>G		.	.	.	.	.	.	.	.	.	.	A	8.027	0.761003	0.15914	.	.	ENSG00000204149	ENST00000374056	D	0.88124	-2.34	0.945	-1.36	0.09085	.	.	.	.	.	T	0.74030	0.3663	L	0.29908	0.895	0.09310	N	0.999996	B	0.20671	0.047	B	0.09377	0.004	T	0.56968	-0.7891	9	0.30078	T	0.28	.	2.9235	0.05777	0.4133:0.0:0.0:0.5867	.	91	C9IYN2	.	R	91	ENSP00000363168:Q91R	ENSP00000363168:Q91R	Q	+	2	0	AGAP6	51419122	0.004000	0.15560	0.929000	0.37066	0.014000	0.08584	-0.376000	0.07465	-0.211000	0.10124	0.147000	0.16070	CAG		0.353	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_001077665		5	53	0	0	0	0.001168	0	5	53		
C10orf35	219738	broad.mit.edu	37	10	71392625	71392625	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:71392625C>T	ENST00000373279.4	+	4	335	c.176C>T	c.(175-177)gCt>gTt	p.A59V	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	59						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						AGGCTGGGTGCTGCTCAGTCC	0.627																																						uc001jpq.3		NaN																	0				ovary(1)|skin(1)	2						c.(175-177)GCT>GTT		hypothetical protein LOC219738							63.0	53.0	57.0					10																	71392625		2203	4300	6503	SO:0001583	missense	219738					integral to membrane		g.chr10:71392625C>T	BC013587	CCDS7295.1	10q22.2	2003-11-21			ENSG00000171224	ENSG00000171224			23519	protein-coding gene	gene with protein product						12477932	Standard	NM_145306		Approved		uc001jpq.4	Q96D05	OTTHUMG00000018383	ENST00000373279.4:c.176C>T	10.37:g.71392625C>T	ENSP00000362376:p.Ala59Val						p.A59V	NM_145306	NP_660349	Q96D05	CJ035_HUMAN			4	346	+			59						Missense_Mutation	SNP	ENST00000373279.4	37	c.176C>T	CCDS7295.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645094	0.67358	.	.	ENSG00000171224	ENST00000373279;ENST00000421716	.	.	.	5.33	5.33	0.75918	.	0.098822	0.44688	D	0.000435	T	0.71048	0.3294	L	0.53249	1.67	0.34866	D	0.74312	D	0.67145	0.996	D	0.75484	0.986	T	0.78917	-0.2015	9	0.59425	D	0.04	-28.7513	14.5323	0.67934	0.0:1.0:0.0:0.0	.	59	Q96D05	CJ035_HUMAN	V	59;101	.	ENSP00000362376:A59V	A	+	2	0	C10orf35	71062631	0.986000	0.35501	1.000000	0.80357	0.995000	0.86356	3.549000	0.53681	2.502000	0.84385	0.561000	0.74099	GCT		0.627	C10orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048454.1		NM_145306		5	84	0	0	0	0.001168	0	5	84		
LRIT1	26103	broad.mit.edu	37	10	85991892	85991892	+	Missense_Mutation	SNP	G	G	A	rs75121307		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:85991892G>A	ENST00000372105.3	-	4	1684	c.1663C>T	c.(1663-1665)Cgc>Tgc	p.R555C		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	555						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						TTTCGGCAGCGCTTCTGAAGA	0.552																																						uc001kcz.1		NaN																	0					0						c.(1663-1665)CGC>TGC		retina specific protein PAL							110.0	90.0	96.0					10																	85991892		2203	4300	6503	SO:0001583	missense	26103					integral to endoplasmic reticulum membrane		g.chr10:85991892G>A	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1663C>T	10.37:g.85991892G>A	ENSP00000361177:p.Arg555Cys						p.R555C	NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN			4	1685	-			555			Cytoplasmic (Potential).		Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	37	c.1663C>T	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217100	0.58560	.	.	ENSG00000148602	ENST00000372105	T	0.38077	1.16	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.56877	0.2015	M	0.70275	2.135	0.80722	D	1	D	0.71674	0.998	P	0.58266	0.836	T	0.60697	-0.7212	10	0.87932	D	0	.	18.1594	0.89703	0.0:0.0:1.0:0.0	.	555	Q9P2V4	LRIT1_HUMAN	C	555	ENSP00000361177:R555C	ENSP00000361177:R555C	R	-	1	0	LRIT1	85981872	1.000000	0.71417	0.959000	0.39883	0.305000	0.27757	7.457000	0.80775	2.592000	0.87571	0.467000	0.42956	CGC		0.552	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1		NM_015613		36	52	0	0	0	0.002836	0	36	52		
STAMBPL1	57559	broad.mit.edu	37	10	90672881	90672881	+	Silent	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:90672881C>G	ENST00000371926.3	+	6	1402	c.444C>G	c.(442-444)ctC>ctG	p.L148L	STAMBPL1_ENST00000371922.1_5'UTR|STAMBPL1_ENST00000371924.1_Silent_p.L148L|STAMBPL1_ENST00000371927.3_Silent_p.L148L	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	148						membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		CTGAAATTCTCAAAAAATTGG	0.408																																						uc001kfk.2		NaN																	0				ovary(1)	1						c.(442-444)CTC>CTG		STAM binding protein-like 1							62.0	72.0	69.0					10																	90672881		2203	4300	6503	SO:0001819	synonymous_variant	57559						metal ion binding|metallopeptidase activity|protein binding	g.chr10:90672881C>G	AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"""associated molecule with the SH3 domain of STAM (AMSH) like protein"", ""associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"""	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.444C>G	10.37:g.90672881C>G						STAMBPL1_uc010qmx.1_Silent_p.L148L|STAMBPL1_uc009xto.2_RNA|STAMBPL1_uc001kfl.2_Silent_p.L148L|STAMBPL1_uc001kfn.2_5'UTR	p.L148L	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)	6	867	+		Colorectal(252;0.0381)	148					B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Silent	SNP	ENST00000371926.3	37	c.444C>G	CCDS7391.1																																																																																				0.408	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049283.1		NM_020799		34	84	0	0	0	0.002836	0	34	84		
BTAF1	9044	broad.mit.edu	37	10	93726464	93726464	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:93726464C>T	ENST00000265990.6	+	14	1908	c.1600C>T	c.(1600-1602)Cga>Tga	p.R534*	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	534					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ATCATCAGTTCGAAGAGCAGC	0.338																																						uc001khr.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1600-1602)CGA>TGA		BTAF1 RNA polymerase II, B-TFIID transcription							169.0	153.0	159.0					10																	93726464		2203	4300	6503	SO:0001587	stop_gained	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93726464C>T	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.1600C>T	10.37:g.93726464C>T	ENSP00000265990:p.Arg534*					BTAF1_uc001khs.1_Nonsense_Mutation_p.R204*|BTAF1_uc001kht.1_5'UTR	p.R534*	NM_003972	NP_003963	O14981	BTAF1_HUMAN			14	1698	+		Colorectal(252;0.0846)	534			HEAT 3.		B4E0W6|O43578	Nonsense_Mutation	SNP	ENST00000265990.6	37	c.1600C>T	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	C	42	9.338527	0.99142	.	.	ENSG00000095564	ENST00000265990	.	.	.	5.72	5.72	0.89469	.	0.125962	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1241	19.8827	0.96904	0.0:1.0:0.0:0.0	.	.	.	.	X	534	.	ENSP00000265990:R534X	R	+	1	2	BTAF1	93716444	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.990000	0.63876	2.702000	0.92279	0.650000	0.86243	CGA		0.338	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4		NM_003972		30	58	0	0	0	0.002836	0	30	58		
CYP2C18	1562	broad.mit.edu	37	10	96454775	96454775	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:96454775C>T	ENST00000285979.6	+	4	782	c.583C>T	c.(583-585)Ctt>Ttt	p.L195F	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.L195F	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	195					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TCAGAGGTTTCTTAACTTGAT	0.408																																						uc001kjv.3		NaN																	0				ovary(3)|lung(1)|skin(1)	5						c.(583-585)CTT>TTT		cytochrome P450 family 2 subfamily C polypeptide							74.0	73.0	73.0					10																	96454775		2203	4300	6503	SO:0001583	missense	1562				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96454775C>T	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.583C>T	10.37:g.96454775C>T	ENSP00000285979:p.Leu195Phe					CYP2C18_uc001kjw.3_Missense_Mutation_p.L195F|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_5'UTR	p.L195F	NM_000772	NP_000763	P33260	CP2CI_HUMAN		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	4	909	+		Colorectal(252;0.09)	195					B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	37	c.583C>T	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	c	17.40	3.379036	0.61735	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.69926	-0.44;-0.44	4.53	1.6	0.23607	.	0.094009	0.43919	U	0.000517	T	0.81777	0.4894	M	0.92880	3.355	0.80722	D	1	D;P	0.60575	0.988;0.85	D;B	0.65773	0.938;0.377	T	0.81593	-0.0862	10	0.87932	D	0	.	8.3227	0.32138	0.0:0.7216:0.0:0.2784	.	195;195	Q4VAT5;P33260	.;CP2CI_HUMAN	F	195	ENSP00000341293:L195F;ENSP00000285979:L195F	ENSP00000285979:L195F	L	+	1	0	CYP2C18	96444765	0.000000	0.05858	0.189000	0.23252	0.442000	0.32017	-0.619000	0.05572	0.374000	0.24650	0.282000	0.19409	CTT		0.408	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1		NM_000772		6	68	0	0	0	0.001168	0	6	68		
BLNK	29760	broad.mit.edu	37	10	97951794	97951794	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:97951794G>A	ENST00000224337.5	-	17	1447	c.1306C>T	c.(1306-1308)Ctt>Ttt	p.L436F	BLNK_ENST00000427367.2_Missense_Mutation_p.L401F|BLNK_ENST00000413476.2_Missense_Mutation_p.L384F|BLNK_ENST00000371176.2_Missense_Mutation_p.L413F	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	436	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CTGTCAATAAGAACCAAAGGA	0.343																																						uc001kls.3		NaN																	0				skin(2)	2						c.(1306-1308)CTT>TTT		B-cell linker isoform 1							234.0	222.0	226.0					10																	97951794		2203	4300	6503	SO:0001583	missense	29760				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr10:97951794G>A	AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"""SH2 domain containing"""	14211	protein-coding gene	gene with protein product	"""B-cell adapter containing a SH2 domain protein"", ""B-cell activation"", ""Src homology [SH2] domain-containing leukocyte protein of 65 kD"", ""B cell adaptor containing SH2 domain"""	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.1306C>T	10.37:g.97951794G>A	ENSP00000224337:p.Leu436Phe					BLNK_uc001kme.3_Missense_Mutation_p.L331F|BLNK_uc001klt.3_Missense_Mutation_p.L327F|BLNK_uc009xvc.2_RNA|BLNK_uc001klu.3_Missense_Mutation_p.L302F|BLNK_uc001klv.3_Missense_Mutation_p.L279F|BLNK_uc001klw.3_RNA|BLNK_uc001klx.3_Missense_Mutation_p.L413F|BLNK_uc001kly.3_Missense_Mutation_p.L384F|BLNK_uc001klz.3_RNA|BLNK_uc001kma.3_Missense_Mutation_p.L361F|BLNK_uc001kmb.3_Missense_Mutation_p.L232F|BLNK_uc001kmc.3_RNA|BLNK_uc001kmd.3_Missense_Mutation_p.L354F|BLNK_uc009xvd.2_RNA	p.L436F	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)	17	1484	-		Colorectal(252;0.083)	436			SH2.		O75498|O75499|Q2MD49	Missense_Mutation	SNP	ENST00000224337.5	37	c.1306C>T	CCDS7446.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520089	0.85495	.	.	ENSG00000095585	ENST00000224337;ENST00000371176;ENST00000427367;ENST00000413476;ENST00000537049;ENST00000393894	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.13	5.13	0.70059	SH2 motif (2);	0.000000	0.85682	D	0.000000	D	0.85340	0.5674	M	0.90019	3.08	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;0.999;1.0;0.998;0.999;0.999	D	0.88380	0.3001	10	0.87932	D	0	-21.1215	17.72	0.88348	0.0:0.0:1.0:0.0	.	361;384;413;279;413;436	Q2MD54;Q2MD49;Q8WV28-2;Q2MD59;Q2MD52;Q8WV28	.;.;.;.;.;BLNK_HUMAN	F	436;413;401;384;279;165	ENSP00000224337:L436F;ENSP00000360218:L413F;ENSP00000391924:L401F;ENSP00000397487:L384F	ENSP00000224337:L436F	L	-	1	0	BLNK	97941784	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.240000	0.72363	2.567000	0.86603	0.557000	0.71058	CTT		0.343	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049593.1		NM_013314		43	41	0	0	0	0.00361	0	43	41		
PI4K2A	55361	broad.mit.edu	37	10	99400862	99400862	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:99400862C>G	ENST00000370631.3	+	1	420	c.363C>G	c.(361-363)atC>atG	p.I121M	PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	121					basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		AGCTGGCCATCGAGCGCTGCA	0.711																																						uc001kog.1		NaN																	0				lung(1)|skin(1)	2						c.(361-363)ATC>ATG		phosphatidylinositol 4-kinase type 2 alpha							12.0	14.0	13.0					10																	99400862		1955	3988	5943	SO:0001583	missense	55361				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding	g.chr10:99400862C>G	AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.363C>G	10.37:g.99400862C>G	ENSP00000359665:p.Ile121Met					PI4K2A_uc010qoy.1_Intron	p.I121M	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)	1	420	+		Colorectal(252;0.162)	121					D3DR59|Q9NSG8	Missense_Mutation	SNP	ENST00000370631.3	37	c.363C>G	CCDS7469.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352507	0.61293	.	.	ENSG00000155252	ENST00000370631	.	.	.	3.64	2.69	0.31865	.	0.165679	0.50627	N	0.000105	T	0.64757	0.2627	M	0.67569	2.06	0.80722	D	1	P	0.38440	0.631	B	0.44085	0.44	T	0.66528	-0.5901	9	0.52906	T	0.07	-2.7613	12.6743	0.56884	0.0:0.8323:0.1677:0.0	.	121	Q9BTU6	P4K2A_HUMAN	M	121	.	ENSP00000359665:I121M	I	+	3	3	PI4K2A	99390852	0.029000	0.19370	1.000000	0.80357	0.938000	0.57974	-0.749000	0.04813	0.696000	0.31696	0.313000	0.20887	ATC		0.711	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1		NM_018425		8	28	0	0	0	0.004482	0	8	28		
ADRB1	153	broad.mit.edu	37	10	115804383	115804383	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:115804383C>A	ENST00000369295.2	+	1	578	c.492C>A	c.(490-492)ttC>ttA	p.F164L		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	164					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|aging (GO:0007568)|apoptotic process (GO:0006915)|brown fat cell differentiation (GO:0050873)|diet induced thermogenesis (GO:0002024)|fear response (GO:0042596)|glycogen catabolic process (GO:0005980)|heat generation (GO:0031649)|lipid homeostasis (GO:0055088)|memory (GO:0007613)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of urine volume (GO:0035811)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cation channel activity (GO:2001259)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of saliva secretion (GO:0046878)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of the force of heart contraction by norepinephrine (GO:0003061)|protein localization to organelle (GO:0033365)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|response to cold (GO:0009409)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)|wound healing (GO:0042060)	early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|beta-adrenergic receptor activity (GO:0004939)|beta1-adrenergic receptor activity (GO:0004940)|dopamine binding (GO:0035240)|drug binding (GO:0008144)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|receptor signaling protein activity (GO:0005057)			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Asenapine(DB06216)|Atenolol(DB00335)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dobutamine(DB00841)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Esmolol(DB00187)|Fenoterol(DB01288)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Loxapine(DB00408)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Practolol(DB01297)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Salbutamol(DB01001)|Sotalol(DB00489)|Timolol(DB00373)|Trimipramine(DB00726)	CCTCGCCCTTCCGCTACCAGA	0.677																																						uc001lba.2		NaN																	0					0						c.(490-492)TTC>TTA		beta-1-adrenergic receptor	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)						62.0	68.0	66.0					10																	115804383		2203	4300	6503	SO:0001583	missense	153				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity	g.chr10:115804383C>A	J03019	CCDS7586.1	10q25.3	2012-08-08	2012-05-09		ENSG00000043591	ENSG00000043591		"""GPCR / Class A : Adrenoceptors : beta"""	285	protein-coding gene	gene with protein product		109630	"""adrenergic, beta-1-, receptor"""	ADRB1R			Standard	NM_000684		Approved		uc001lba.3	P08588	OTTHUMG00000019079	ENST00000369295.2:c.492C>A	10.37:g.115804383C>A	ENSP00000358301:p.Phe164Leu						p.F164L	NM_000684	NP_000675	P08588	ADRB1_HUMAN		Epithelial(162;0.0124)|all cancers(201;0.0298)	1	578	+		Colorectal(252;0.172)|Breast(234;0.188)	164			Cytoplasmic (By similarity).		B0LPE2|Q5T5Y4|Q9UKG7|Q9UKG8	Missense_Mutation	SNP	ENST00000369295.2	37	c.492C>A	CCDS7586.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042931	0.36085	.	.	ENSG00000043591	ENST00000369295	T	0.10005	2.92	4.42	3.5	0.40072	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	T	0.03053	0.0090	N	0.01522	-0.82	0.38478	D	0.947653	B	0.15719	0.014	B	0.14578	0.011	T	0.34502	-0.9826	10	0.06757	T	0.87	.	8.0887	0.30788	0.0:0.8119:0.0:0.1881	.	164	P08588	ADRB1_HUMAN	L	164	ENSP00000358301:F164L	ENSP00000358301:F164L	F	+	3	2	ADRB1	115794373	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	0.410000	0.21098	0.832000	0.34804	0.549000	0.68633	TTC		0.677	ADRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050448.1				70	89	1	0	1.08321e-29	0.00361	1.24546e-29	70	89		
TRUB1	142940	broad.mit.edu	37	10	116698112	116698112	+	Missense_Mutation	SNP	A	A	C	rs199739741		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:116698112A>C	ENST00000298746.3	+	1	161	c.100A>C	c.(100-102)Acc>Ccc	p.T34P		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	34					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.T34P(1)		breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		AATGGCTGCGACCCCGTCAGC	0.637																																						uc001lcd.2		NaN																	1	Substitution - Missense(1)		kidney(1)		0						c.(100-102)ACC>CCC		TruB pseudouridine (psi) synthase homolog 1							10.0	12.0	11.0					10																	116698112		2149	4210	6359	SO:0001583	missense	142940				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr10:116698112A>C	AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"""TruB pseudouridine (psi) synthase homolog 1 (E. coli)"""			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.100A>C	10.37:g.116698112A>C	ENSP00000298746:p.Thr34Pro					TRUB1_uc010qsl.1_Intron	p.T34P	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN		Epithelial(162;0.00879)|all cancers(201;0.0243)	1	161	+		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)	34					B2R716|Q53ES2	Missense_Mutation	SNP	ENST00000298746.3	37	c.100A>C	CCDS7591.1	.	.	.	.	.	.	.	.	.	.	A	16.81	3.226928	0.58668	.	.	ENSG00000165832	ENST00000298746	T	0.47528	0.84	5.36	-0.135	0.13477	.	1.208560	0.05856	N	0.622118	T	0.36580	0.0972	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36578	-0.9742	10	0.72032	D	0.01	0.0098	5.2826	0.15684	0.4598:0.1581:0.3821:0.0	.	34	Q8WWH5	TRUB1_HUMAN	P	34	ENSP00000298746:T34P	ENSP00000298746:T34P	T	+	1	0	TRUB1	116688102	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-0.006000	0.12833	0.023000	0.15187	-0.250000	0.11733	ACC		0.637	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1		NM_139169		5	5	0	0	0	0.007413	0	5	5		
PNLIPRP1	5407	broad.mit.edu	37	10	118357370	118357370	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr10:118357370G>T	ENST00000528052.1	+	7	676	c.605G>T	c.(604-606)aGt>aTt	p.S202I	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.S202I|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.S202I			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	202					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AGTTTCGAGAGTACTCCTGAA	0.483																																						uc001lco.1		NaN																	0				ovary(1)|breast(1)	2						c.(604-606)AGT>ATT		pancreatic lipase-related protein 1 precursor							176.0	153.0	161.0					10																	118357370		2203	4300	6503	SO:0001583	missense	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118357370G>T	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.605G>T	10.37:g.118357370G>T	ENSP00000433933:p.Ser202Ile					PNLIPRP1_uc001lcp.2_Missense_Mutation_p.S202I|PNLIPRP1_uc009xys.1_RNA	p.S202I	NM_006229	NP_006220	P54315	LIPR1_HUMAN		all cancers(201;0.0161)	7	623	+			202					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	c.605G>T	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273855	0.40194	.	.	ENSG00000187021	ENST00000358834;ENST00000528052;ENST00000530319;ENST00000527980;ENST00000534537	D;D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69;-2.69	5.17	4.27	0.50696	Lipase, N-terminal (1);	0.229671	0.37304	N	0.002156	D	0.86830	0.6027	N	0.21142	0.635	0.80722	D	1	B	0.15719	0.014	B	0.35727	0.209	D	0.84100	0.0395	10	0.87932	D	0	-12.1652	12.8902	0.58068	0.0804:0.0:0.9196:0.0	.	202	P54315	LIPR1_HUMAN	I	202;202;157;129;202	ENSP00000351695:S202I;ENSP00000433933:S202I;ENSP00000437263:S157I;ENSP00000433785:S129I;ENSP00000434159:S202I	ENSP00000351695:S202I	S	+	2	0	PNLIPRP1	118347360	1.000000	0.71417	0.215000	0.23724	0.623000	0.37688	3.010000	0.49559	1.310000	0.45006	0.561000	0.74099	AGT		0.483	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1		NM_006229		20	86	1	0	4.96729e-08	0.008871	5.25665e-08	20	86		
B4GALNT4	338707	broad.mit.edu	37	11	373764	373764	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:373764G>A	ENST00000329962.6	+	8	719	c.719G>A	c.(718-720)cGg>cAg	p.R240Q		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	240					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGGCCTCCCGGAGGTACTAC	0.642																																						uc001lpb.2		NaN																	0				pancreas(1)	1						c.(718-720)CGG>CAG		beta							92.0	85.0	87.0					11																	373764		2198	4296	6494	SO:0001583	missense	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:373764G>A	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.719G>A	11.37:g.373764G>A	ENSP00000328277:p.Arg240Gln						p.R240Q	NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	728	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	240			Lumenal (Potential).		Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	c.719G>A	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	g	28.8	4.953675	0.92660	.	.	ENSG00000182272	ENST00000329962	T	0.23552	1.9	4.38	4.38	0.52667	PA14 (2);	0.143577	0.42172	D	0.000746	T	0.41442	0.1159	L	0.45422	1.42	0.42055	D	0.991138	D	0.76494	0.999	D	0.66196	0.942	T	0.20042	-1.0287	10	0.44086	T	0.13	-35.4448	16.4521	0.83994	0.0:0.0:1.0:0.0	.	240	Q76KP1	B4GN4_HUMAN	Q	240	ENSP00000328277:R240Q	ENSP00000328277:R240Q	R	+	2	0	B4GALNT4	363764	0.984000	0.35163	1.000000	0.80357	0.963000	0.63663	4.909000	0.63314	2.429000	0.82318	0.462000	0.41574	CGG		0.642	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2		NM_178537		47	37	0	0	0	0.00361	0	47	37		
KRTAP5-5	439915	broad.mit.edu	37	11	1651190	1651190	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:1651190C>T	ENST00000399676.2	+	1	158	c.120C>T	c.(118-120)tcC>tcT	p.S40S		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	40						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		gctgtggctccggctgtggag	0.716																																						uc001lty.2		NaN																	0				lung(1)	1						c.(118-120)TCC>TCT		keratin associated protein 5-5							17.0	27.0	24.0					11																	1651190		1821	3747	5568	SO:0001819	synonymous_variant	439915					keratin filament		g.chr11:1651190C>T	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.120C>T	11.37:g.1651190C>T							p.S40S	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	158	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	40					A8MWN2	Silent	SNP	ENST00000399676.2	37	c.120C>T	CCDS41592.1																																																																																				0.716	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1				4	33	0	0	0	0.00308	0	4	33		
SYT9	143425	broad.mit.edu	37	11	7335059	7335059	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:7335059G>C	ENST00000318881.6	+	3	1168	c.931G>C	c.(931-933)Gac>Cac	p.D311H	SYT9_ENST00000396716.2_Missense_Mutation_p.D279H	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	311	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GTACGACTTTGACAGGTTCTC	0.473																																						uc001mfe.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(931-933)GAC>CAC		synaptotagmin IX							195.0	195.0	195.0					11																	7335059		2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7335059G>C	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.931G>C	11.37:g.7335059G>C	ENSP00000324419:p.Asp311His					SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron	p.D311H	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	3	1168	+			311			Cytoplasmic (Potential).|C2 1.	Calcium 2 (By similarity).|Calcium 3 (By similarity).|Calcium 1 (By similarity).		Missense_Mutation	SNP	ENST00000318881.6	37	c.931G>C	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528322	0.85706	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.13307	2.6;2.6	5.97	5.97	0.96955	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.159851	0.44483	D	0.000451	T	0.53465	0.1798	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.67256	-0.5716	9	.	.	.	.	17.9326	0.89002	0.0:0.0:1.0:0.0	.	311	Q86SS6	SYT9_HUMAN	H	279;311	ENSP00000379944:D279H;ENSP00000324419:D311H	.	D	+	1	0	SYT9	7291635	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	GAC		0.473	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1		NM_175733		69	141	0	0	0	0.00361	0	69	141		
PAX6	5080	broad.mit.edu	37	11	31824258	31824258	+	Silent	SNP	A	A	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:31824258A>T	ENST00000379132.3	-	4	415	c.135T>A	c.(133-135)atT>atA	p.I45I	PAX6_ENST00000419022.1_Silent_p.I45I|PAX6_ENST00000379107.2_Silent_p.I45I|PAX6_ENST00000379129.2_Silent_p.I45I|PAX6_ENST00000379111.2_Silent_p.I45I|PAX6_ENST00000241001.8_Silent_p.I45I|PAX6_ENST00000533156.1_5'UTR|PAX6_ENST00000379115.4_Silent_p.I45I|PAX6_ENST00000379123.5_Silent_p.I45I			P26367	PAX6_HUMAN	paired box 6	45	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCACCTGCAGAATTCGGGAAA	0.617									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													uc001mtd.3		NaN																	0				lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9						c.(133-135)ATT>ATA		paired box gene 6 isoform a							20.0	24.0	23.0					11																	31824258		2202	4298	6500	SO:0001819	synonymous_variant	5080	Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31824258A>T	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.135T>A	11.37:g.31824258A>T						PAX6_uc001mte.3_Silent_p.I45I|PAX6_uc001mtg.3_Silent_p.I45I|PAX6_uc001mtf.3_Silent_p.I45I|PAX6_uc001mth.3_Silent_p.I45I|PAX6_uc009yjr.2_Silent_p.I45I	p.I45I	NM_001127612	NP_001121084	P26367	PAX6_HUMAN			4	1025	-	Lung SC(675;0.225)		45			Paired.		Q6N006|Q99413	Silent	SNP	ENST00000379132.3	37	c.135T>A	CCDS31451.1																																																																																				0.617	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4		NM_001604		16	8	0	0	0	0.004007	0	16	8		
OR4C46	119749	broad.mit.edu	37	11	51515813	51515813	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:51515813G>C	ENST00000328188.1	+	1	532	c.532G>C	c.(532-534)Gat>Cat	p.D178H		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D178N(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CTTTATGTGTGATCTGAACCC	0.453																																						uc010ric.1		NaN																	1	Substitution - Missense(1)		skin(1)	ovary(1)	1						c.(532-534)GAT>CAT		olfactory receptor, family 4, subfamily C,							107.0	100.0	102.0					11																	51515813		2201	4293	6494	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515813G>C		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.532G>C	11.37:g.51515813G>C	ENSP00000329056:p.Asp178His						p.D178H	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			1	532	+			178			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000328188.1	37	c.532G>C	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	10.66	1.411917	0.25465	.	.	ENSG00000185926	ENST00000328188	T	0.00164	8.64	2.47	2.47	0.30058	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000260	T	0.00552	0.0018	M	0.92122	3.275	0.32483	N	0.541268	D	0.89917	1.0	D	0.97110	1.0	T	0.19160	-1.0314	10	0.87932	D	0	.	10.7852	0.46401	0.0:0.0:1.0:0.0	.	178	A6NHA9	O4C46_HUMAN	H	178	ENSP00000329056:D178H	ENSP00000329056:D178H	D	+	1	0	OR4C46	51372389	1.000000	0.71417	0.801000	0.32222	0.010000	0.07245	4.530000	0.60595	1.433000	0.47394	0.121000	0.15741	GAT		0.453	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1		NM_001004703		12	192	0	0	0	0.001368	0	12	192		
OR8H2	390151	broad.mit.edu	37	11	55872777	55872777	+	Missense_Mutation	SNP	C	C	A	rs200791147		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:55872777C>A	ENST00000313503.1	+	1	259	c.259C>A	c.(259-261)Ctg>Atg	p.L87M		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AGCGAACTTACTGACTTCCAA	0.438										HNSCC(53;0.14)																												uc010riy.1		NaN																	0				ovary(1)|skin(1)	2						c.(259-261)CTG>ATG		olfactory receptor, family 8, subfamily H,							296.0	299.0	298.0					11																	55872777		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872777C>A	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.259C>A	11.37:g.55872777C>A	ENSP00000323982:p.Leu87Met	HNSCC(53;0.14)					p.L87M	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	259	+	Esophageal squamous(21;0.00693)		87			Extracellular (Potential).		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.259C>A	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	c	7.628	0.678156	0.14841	.	.	ENSG00000181767	ENST00000313503	T	0.01422	4.91	3.58	-4.14	0.03892	GPCR, rhodopsin-like superfamily (1);	1.034700	0.07701	N	0.940360	T	0.02455	0.0075	M	0.84156	2.68	0.09310	N	1	P	0.45078	0.85	B	0.42163	0.378	T	0.17501	-1.0367	10	0.59425	D	0.04	.	2.1137	0.03708	0.1222:0.4188:0.2393:0.2198	.	87	Q8N162	OR8H2_HUMAN	M	87	ENSP00000323982:L87M	ENSP00000323982:L87M	L	+	1	2	OR8H2	55629353	0.000000	0.05858	0.033000	0.17914	0.244000	0.25665	-1.431000	0.02432	-0.762000	0.04664	0.440000	0.28878	CTG		0.438	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1		NM_001005200		37	632	1	0	1.66425e-11	0.004878	1.83235e-11	37	632		
RTN4RL2	349667	broad.mit.edu	37	11	57243961	57243961	+	Silent	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:57243961C>G	ENST00000335099.3	+	3	1157	c.840C>G	c.(838-840)cgC>cgG	p.R280R	RP11-624G17.3_ENST00000528885.1_RNA	NM_178570.1	NP_848665.1			reticulon 4 receptor-like 2											NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						AGCGCGCGCGCGTGTCCAGCT	0.766																																						uc010rjt.1		NaN																	0					0						c.(838-840)CGC>CGG		reticulon 4 receptor-like 2 precursor							3.0	4.0	3.0					11																	57243961		1663	3500	5163	SO:0001819	synonymous_variant	349667				axon regeneration	anchored to plasma membrane	receptor activity	g.chr11:57243961C>G	BK001302	CCDS7957.1	11q12.1	2008-02-05			ENSG00000186907	ENSG00000186907			23053	protein-coding gene	gene with protein product		610462					Standard	NM_178570		Approved	NgR2, NGRH1	uc010rjt.2	Q86UN3	OTTHUMG00000167028	ENST00000335099.3:c.840C>G	11.37:g.57243961C>G							p.R280R	NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN			3	840	+			280			LRRCT.			Silent	SNP	ENST00000335099.3	37	c.840C>G	CCDS7957.1																																																																																				0.766	RTN4RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392537.1		NM_178570		5	4	0	0	0	0.001168	0	5	4		
MS4A14	84689	broad.mit.edu	37	11	60183468	60183468	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:60183468C>T	ENST00000300187.6	+	5	1304	c.1027C>T	c.(1027-1029)Cat>Tat	p.H343Y	MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.H376Y|MS4A14_ENST00000395005.2_Missense_Mutation_p.H326Y|MS4A14_ENST00000531787.1_Missense_Mutation_p.H231Y	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	343						integral component of membrane (GO:0016021)		p.H343Y(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TACATCATCCCATGTCAAACA	0.438																																						uc001npj.2		NaN																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1027-1029)CAT>TAT		membrane-spanning 4-domains, subfamily A, member							136.0	112.0	120.0					11																	60183468		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60183468C>T	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1027C>T	11.37:g.60183468C>T	ENSP00000300187:p.His343Tyr					MS4A14_uc001npi.2_Missense_Mutation_p.H231Y|MS4A14_uc001npn.2_Missense_Mutation_p.H81Y|MS4A14_uc001npk.2_Missense_Mutation_p.H326Y|MS4A14_uc001npl.2_Missense_Mutation_p.H81Y|MS4A14_uc001npm.2_Missense_Mutation_p.H81Y	p.H343Y	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			5	1592	+			343					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.1027C>T	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	C	8.757	0.922706	0.18056	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.34472	1.36;2.58;1.37;2.96	3.5	1.59	0.23543	.	8.081190	0.00166	N	0.000000	T	0.41903	0.1179	N	0.19112	0.55	0.09310	N	0.999994	D;D	0.69078	0.997;0.994	P;P	0.58928	0.848;0.709	T	0.37337	-0.9710	10	0.44086	T	0.13	-8.1887	8.4559	0.32899	0.4226:0.5774:0.0:0.0	.	326;343	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	Y	231;343;326;376	ENSP00000437222:H231Y;ENSP00000300187:H343Y;ENSP00000378453:H326Y;ENSP00000433761:H376Y	ENSP00000300187:H343Y	H	+	1	0	MS4A14	59940044	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	-0.545000	0.06069	0.459000	0.27016	-0.158000	0.13435	CAT		0.438	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2				10	69	0	0	0	0.006214	0	10	69		
VWCE	220001	broad.mit.edu	37	11	61058340	61058340	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:61058340G>C	ENST00000335613.5	-	4	741	c.355C>G	c.(355-357)Cag>Gag	p.Q119E		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	119						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						GCCACCTCCTGACAGCCTCCA	0.622																																						uc001nra.2		NaN																	0				ovary(1)	1						c.(355-357)CAG>GAG		von Willebrand factor C and EGF domains							86.0	68.0	74.0					11																	61058340		2203	4299	6502	SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61058340G>C	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.355C>G	11.37:g.61058340G>C	ENSP00000334186:p.Gln119Glu					VWCE_uc001nrb.2_RNA	p.Q119E	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN			4	634	-			119					A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	c.355C>G	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	g	13.88	2.369782	0.42003	.	.	ENSG00000167992	ENST00000335613	T	0.68181	-0.31	5.15	4.21	0.49690	.	0.125778	0.36167	N	0.002758	T	0.45054	0.1323	N	0.16130	0.375	0.80722	D	1	B	0.32781	0.384	B	0.33196	0.159	T	0.43540	-0.9385	10	0.02654	T	1	.	13.6208	0.62136	0.0:0.2971:0.7029:0.0	.	119	Q96DN2	VWCE_HUMAN	E	119	ENSP00000334186:Q119E	ENSP00000301770:Q119E	Q	-	1	0	VWCE	60814916	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.641000	0.54360	1.130000	0.42092	0.556000	0.70494	CAG		0.622	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1		NM_152718		40	70	0	0	0	0.006999	0	40	70		
TMEM179B	374395	broad.mit.edu	37	11	62557492	62557492	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:62557492C>T	ENST00000333449.4	+	5	638	c.633C>T	c.(631-633)ctC>ctT	p.L211L	TMEM179B_ENST00000533861.1_3'UTR|NXF1_ENST00000533048.1_5'Flank|TMEM223_ENST00000307366.7_3'UTR|TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000527073.1_Intron	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	211						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						CAGATGCTCTCGTTGGGTCAC	0.592																																						uc001nvd.3		NaN																	0					0						c.(631-633)CTC>CTT		transmembrane protein 179B							83.0	77.0	79.0					11																	62557492		2201	4299	6500	SO:0001819	synonymous_variant	374395					integral to membrane		g.chr11:62557492C>T	BC051355	CCDS8036.1	11q12.3	2007-11-26			ENSG00000185475	ENSG00000185475			33744	protein-coding gene	gene with protein product							Standard	NM_199337		Approved		uc001nvd.4	Q7Z7N9	OTTHUMG00000167611	ENST00000333449.4:c.633C>T	11.37:g.62557492C>T							p.L211L	NM_199337	NP_955369	Q7Z7N9	T179B_HUMAN			5	663	+			211						Silent	SNP	ENST00000333449.4	37	c.633C>T	CCDS8036.1																																																																																				0.592	TMEM179B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395362.2		NM_199337		64	107	0	0	0	0.00361	0	64	107		
MRPL49	740	broad.mit.edu	37	11	64889086	64889086	+	5'Flank	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:64889086G>A	ENST00000279242.2	+	0	0				MRPL49_ENST00000534078.1_5'Flank|FAU_ENST00000531743.1_Missense_Mutation_p.P36S|FAU_ENST00000279259.3_Missense_Mutation_p.P36S|MRPL49_ENST00000526171.1_5'Flank|FAU_ENST00000434372.2_Missense_Mutation_p.P36S|FAU_ENST00000529259.1_Missense_Mutation_p.P36S|FAU_ENST00000529639.1_Missense_Mutation_p.P36S|MRPL49_ENST00000531705.1_5'Flank|FAU_ENST00000527548.1_Missense_Mutation_p.P36S|FAU_ENST00000525297.1_Intron	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|ovary(1)	2						TGATCTTCCGGGGCAATGCCC	0.612																																						uc001ocx.2		NaN																	0					0						c.(106-108)CCG>TCG		ubiquitin-like protein fubi and ribosomal							52.0	50.0	50.0					11																	64889086		2201	4297	6498	SO:0001631	upstream_gene_variant	2197							g.chr11:64889086G>A		CCDS8096.1	11q13.1	2012-11-14	2001-10-16	2001-10-19	ENSG00000149792	ENSG00000149792		"""Mitochondrial ribosomal proteins / large subunits"""	1176	protein-coding gene	gene with protein product	"""neighbor of FAU"", ""next to FAU"""	606866	"""chromosome 11 open reading frame 4"""	C11orf4		8786148	Standard	NM_004927		Approved	NOF, NOF1, L49mt	uc001oda.2	Q13405	OTTHUMG00000165608		11.37:g.64889086G>A	Exception_encountered					FAU_uc001ocy.1_Missense_Mutation_p.P36S|MRPL49_uc001ocz.1_5'Flank|MRPL49_uc001oda.1_5'Flank	p.P36S	NM_001997	NP_001988	P35544	UBIM_HUMAN			3	213	-			36					B2R4G6	Missense_Mutation	SNP	ENST00000279242.2	37	c.106C>T	CCDS8096.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667660	0.47677	.	.	ENSG00000149806	ENST00000529639;ENST00000531743;ENST00000527548;ENST00000279259;ENST00000529259;ENST00000526555;ENST00000434372	T;T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	6.17	4.2	0.49525	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (2);	0.328738	0.35525	N	0.003160	T	0.68677	0.3027	M	0.63428	1.95	0.32122	N	0.587851	B;B	0.13594	0.003;0.008	B;B	0.18263	0.021;0.016	T	0.71318	-0.4629	10	0.51188	T	0.08	.	8.1481	0.31124	0.0784:0.3064:0.6152:0.0	.	36;36	E9PMS9;P35544	.;UBIM_HUMAN	S	36	ENSP00000435370:P36S;ENSP00000431822:P36S;ENSP00000434440:P36S;ENSP00000279259:P36S;ENSP00000434680:P36S;ENSP00000433139:P36S;ENSP00000413848:P36S	ENSP00000279259:P36S	P	-	1	0	FAU	64645662	1.000000	0.71417	0.997000	0.53966	0.913000	0.54294	2.633000	0.46519	1.616000	0.50265	0.655000	0.94253	CCG		0.612	MRPL49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385293.1		NM_004927		8	116	0	0	0	0.00308	0	8	116		
EHBP1L1	254102	broad.mit.edu	37	11	65349507	65349507	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:65349507C>T	ENST00000309295.4	+	9	1629	c.1364C>T	c.(1363-1365)cCt>cTt	p.P455L		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	455						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						AGGGGGACCCCTGAGGCTCCT	0.642																																						uc001oeo.3		NaN																	0				central_nervous_system(1)	1						c.(1363-1365)CCT>CTT		tangerin							40.0	46.0	44.0					11																	65349507		1965	4137	6102	SO:0001583	missense	254102							g.chr11:65349507C>T	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1364C>T	11.37:g.65349507C>T	ENSP00000312671:p.Pro455Leu					EHBP1L1_uc001oep.1_Intron	p.P455L	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN			9	1629	+			455					Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	c.1364C>T	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.572846	0.65765	.	.	ENSG00000173442	ENST00000309295	T	0.72051	-0.62	5.07	3.08	0.35506	.	0.000000	0.51477	D	0.000097	T	0.52645	0.1747	L	0.36672	1.1	0.09310	N	0.999998	B	0.30281	0.275	B	0.25759	0.063	T	0.50039	-0.8874	10	0.72032	D	0.01	.	3.4809	0.07602	0.1747:0.5621:0.1692:0.094	.	455	Q8N3D4	EH1L1_HUMAN	L	455	ENSP00000312671:P455L	ENSP00000312671:P455L	P	+	2	0	EHBP1L1	65106083	0.008000	0.16893	0.995000	0.50966	0.974000	0.67602	1.286000	0.33273	2.357000	0.79964	0.561000	0.74099	CCT		0.642	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1		XM_170658		19	81	0	0	0	0.00278	0	19	81		
NPAS4	266743	broad.mit.edu	37	11	66189921	66189921	+	Splice_Site	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:66189921G>A	ENST00000311034.2	+	3	503		c.e3-1			NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCTCCCTCCAGGTGGACCTGG	0.527																																						uc001ohx.1		NaN																	0					0						c.e3-1		neuronal PAS domain protein 4							150.0	133.0	139.0					11																	66189921		2200	4295	6495	SO:0001630	splice_region_variant	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66189921G>A	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.328-1G>A	11.37:g.66189921G>A						NPAS4_uc010rpc.1_Splice_Site	p.V110_splice	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			3	504	+								B7ZL81|Q8N8S5|Q8N9Q9	Splice_Site	SNP	ENST00000311034.2	37	c.328_splice	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044408	0.75732	.	.	ENSG00000174576	ENST00000311034	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1955	0.73084	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPAS4	65946497	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.077000	0.94016	2.440000	0.82611	0.563000	0.77884	.		0.527	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1		NM_178864	Intron	63	206	0	0	0	0.00361	0	63	206		
ACTN3	89	broad.mit.edu	37	11	66325335	66325335	+	lincRNA	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:66325335C>G	ENST00000504911.1	-	0	1160				ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA																							CTTCAACACACTGCAGACCAA	0.587																																						uc001oio.1		NaN																	0					0						c.(1063-1065)CTG>GTG		actinin, alpha 3							77.0	70.0	72.0					11																	66325335		2200	4295	6495			89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66325335C>G																													11.37:g.66325335C>G						ACTN3_uc010rpi.1_RNA	p.L355V	NM_001104	NP_001095	Q08043	ACTN3_HUMAN			10	1081	+			355			Spectrin 1.			Missense_Mutation	SNP	ENST00000504911.1	37	c.1063C>G																																																																																					0.587	CTD-3074O7.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000362463.1				5	102	0	0	0	0.001168	0	5	102		
CCDC87	55231	broad.mit.edu	37	11	66359149	66359149	+	Silent	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:66359149T>A	ENST00000333861.3	-	1	1405	c.1338A>T	c.(1336-1338)gtA>gtT	p.V446V	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	446					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CAGAGACCCGTACGGCAGCCG	0.532																																						uc001oiq.3		NaN																	0				ovary(1)|skin(1)	2						c.(1336-1338)GTA>GTT		coiled-coil domain containing 87							47.0	52.0	50.0					11																	66359149		2200	4295	6495	SO:0001819	synonymous_variant	55231							g.chr11:66359149T>A	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1338A>T	11.37:g.66359149T>A						CCS_uc001oir.2_5'Flank	p.V446V	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN			1	1406	-			446					Q8NE76	Silent	SNP	ENST00000333861.3	37	c.1338A>T	CCDS8145.1																																																																																				0.532	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1		NM_018219		16	265	0	0	0	0.004007	0	16	265		
PITPNM1	9600	broad.mit.edu	37	11	67269467	67269467	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:67269467C>T	ENST00000534749.1	-	4	694	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	PITPNM1_ENST00000356404.3_Missense_Mutation_p.R169Q|PITPNM1_ENST00000436757.2_Missense_Mutation_p.R169Q			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	169					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CAGTGGCCCTCGGCCCGTCTT	0.612																																					GBM(28;144 709 4607 5525)	uc001olx.2		NaN																	0		p.R169R(1)		lung(2)|central_nervous_system(1)	3						c.(505-507)CGA>CAA		phosphatidylinositol transfer protein,							55.0	51.0	52.0					11																	67269467		2200	4294	6494	SO:0001583	missense	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67269467C>T	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.506G>A	11.37:g.67269467C>T	ENSP00000437286:p.Arg169Gln					PITPNM1_uc001oly.2_Missense_Mutation_p.R169Q|PITPNM1_uc001olz.2_Missense_Mutation_p.R169Q	p.R169Q	NM_004910	NP_004901	O00562	PITM1_HUMAN			4	695	-			169					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	c.506G>A	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	C	35	5.414320	0.96092	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.58060	0.36;0.36;0.36	4.23	4.23	0.50019	START-like domain (1);	0.000000	0.42821	D	0.000648	T	0.79281	0.4419	H	0.96460	3.825	0.46586	D	0.999115	D;D	0.67145	0.996;0.989	P;P	0.62649	0.905;0.854	D	0.86783	0.1980	10	0.87932	D	0	-3.4254	15.7356	0.77839	0.0:1.0:0.0:0.0	.	169;169	O00562-2;O00562	.;PITM1_HUMAN	Q	169	ENSP00000437286:R169Q;ENSP00000398787:R169Q;ENSP00000348772:R169Q	ENSP00000348772:R169Q	R	-	2	0	PITPNM1	67026043	0.991000	0.36638	0.989000	0.46669	0.937000	0.57800	7.571000	0.82399	2.359000	0.80004	0.655000	0.94253	CGA		0.612	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1		NM_004910		38	85	0	0	0	0.006999	0	38	85		
PITPNM1	9600	broad.mit.edu	37	11	67269826	67269826	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:67269826C>T	ENST00000534749.1	-	3	540	c.352G>A	c.(352-354)Gat>Aat	p.D118N	PITPNM1_ENST00000356404.3_Missense_Mutation_p.D118N|PITPNM1_ENST00000436757.2_Missense_Mutation_p.D118N			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	118					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TGCCCCCCATCAGGCAGGTAA	0.607																																					GBM(28;144 709 4607 5525)	uc001olx.2		NaN																	0				lung(2)|central_nervous_system(1)	3						c.(352-354)GAT>AAT		phosphatidylinositol transfer protein,							76.0	76.0	76.0					11																	67269826		2200	4295	6495	SO:0001583	missense	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67269826C>T	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.352G>A	11.37:g.67269826C>T	ENSP00000437286:p.Asp118Asn					PITPNM1_uc001oly.2_Missense_Mutation_p.D118N|PITPNM1_uc001olz.2_Missense_Mutation_p.D118N	p.D118N	NM_004910	NP_004901	O00562	PITM1_HUMAN			3	541	-			118					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	c.352G>A	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	C	32	5.152314	0.94645	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404;ENST00000533391;ENST00000532703;ENST00000528559	T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32	4.56	4.56	0.56223	START-like domain (1);	0.178156	0.27198	N	0.020473	T	0.75064	0.3799	M	0.69823	2.125	0.48236	D	0.999611	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78927	-0.2011	10	0.87932	D	0	-15.9923	16.2924	0.82758	0.0:1.0:0.0:0.0	.	118;118	O00562-2;O00562	.;PITM1_HUMAN	N	118	ENSP00000437286:D118N;ENSP00000398787:D118N;ENSP00000348772:D118N;ENSP00000434046:D118N;ENSP00000432977:D118N;ENSP00000434904:D118N	ENSP00000348772:D118N	D	-	1	0	PITPNM1	67026402	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.773000	0.85462	2.240000	0.73641	0.655000	0.94253	GAT		0.607	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1		NM_004910		68	199	0	0	0	0.00361	0	68	199		
IGHMBP2	3508	broad.mit.edu	37	11	68703726	68703726	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:68703726A>G	ENST00000255078.3	+	13	1889	c.1778A>G	c.(1777-1779)gAg>gGg	p.E593G	IGHMBP2_ENST00000541229.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	593					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTTCTTGCTGAGGACCGGAGG	0.532																																						uc001ook.1		NaN																	0					0						c.(1777-1779)GAG>GGG		immunoglobulin mu binding protein 2							132.0	127.0	129.0					11																	68703726		2200	4294	6494	SO:0001583	missense	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68703726A>G	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1778A>G	11.37:g.68703726A>G	ENSP00000255078:p.Glu593Gly					IGHMBP2_uc001ool.1_Missense_Mutation_p.E217G|IGHMBP2_uc001oom.1_Missense_Mutation_p.E171G	p.E593G	NM_002180	NP_002171	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		13	1880	+			593					A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.1778A>G	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.768186	0.90020	.	.	ENSG00000132740	ENST00000255078	D	0.92805	-3.11	4.25	4.25	0.50352	.	0.113928	0.64402	D	0.000017	D	0.95589	0.8566	M	0.83852	2.665	0.80722	D	1	D	0.64830	0.994	D	0.69479	0.964	D	0.95949	0.8953	10	0.72032	D	0.01	-11.1963	12.7497	0.57302	1.0:0.0:0.0:0.0	.	593	P38935	SMBP2_HUMAN	G	593	ENSP00000255078:E593G	ENSP00000255078:E593G	E	+	2	0	IGHMBP2	68460302	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.478000	0.90428	1.912000	0.55364	0.459000	0.35465	GAG		0.532	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1		NM_002180		33	410	0	0	0	0.010818	0	33	410		
GRM5	2915	broad.mit.edu	37	11	88386506	88386506	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:88386506G>C	ENST00000305447.4	-	3	1126	c.977C>G	c.(976-978)aCa>aGa	p.T326R	GRM5_ENST00000455756.2_Missense_Mutation_p.T326R|GRM5_ENST00000305432.5_Missense_Mutation_p.T326R|GRM5_ENST00000393297.1_Missense_Mutation_p.T326R|GRM5_ENST00000418177.2_Missense_Mutation_p.T326R	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	326					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	GAGCTTGATTGTGATGCCACC	0.453																																						uc001pcq.2		NaN																	0				central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(976-978)ACA>AGA		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						105.0	105.0	105.0					11																	88386506		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88386506G>C	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.977C>G	11.37:g.88386506G>C	ENSP00000306138:p.Thr326Arg					GRM5_uc009yvm.2_Missense_Mutation_p.T326R	p.T326R	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			3	1177	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	326			Extracellular (Potential).		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.977C>G	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833679	0.91036	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94430	0.8208	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94521	0.7727	9	.	.	.	.	20.2314	0.98350	0.0:0.0:1.0:0.0	.	326;326	P41594-2;P41594	.;GRM5_HUMAN	R	326	ENSP00000402912:T326R;ENSP00000405690:T326R;ENSP00000305905:T326R;ENSP00000306138:T326R;ENSP00000376975:T326R	.	T	-	2	0	GRM5	88026154	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.476000	0.97823	2.789000	0.95967	0.591000	0.81541	ACA		0.453	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1		NM_000842		11	74	0	0	0	0.010729	0	11	74		
AMOTL1	154810	broad.mit.edu	37	11	94533301	94533301	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:94533301C>A	ENST00000433060.2	+	3	1086	c.945C>A	c.(943-945)ttC>ttA	p.F315L	AMOTL1_ENST00000317837.9_Missense_Mutation_p.F315L|AMOTL1_ENST00000317829.8_Missense_Mutation_p.F265L	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	315					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				AGTACCCCTTCAAGACCAAGC	0.597																																						uc001pfb.2		NaN																	0				ovary(1)|breast(1)	2						c.(943-945)TTC>TTA		angiomotin like 1							107.0	109.0	109.0					11																	94533301		1964	4140	6104	SO:0001583	missense	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94533301C>A	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.945C>A	11.37:g.94533301C>A	ENSP00000387739:p.Phe315Leu					AMOTL1_uc001pfc.2_Missense_Mutation_p.F265L	p.F315L	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN			3	1115	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	315					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	c.945C>A	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515003	0.44763	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000317837;ENST00000433060	T;T;T	0.13196	2.61;2.61;2.61	5.13	4.22	0.49857	.	0.240896	0.36815	N	0.002387	T	0.16981	0.0408	M	0.73217	2.22	0.27785	N	0.943002	B;B	0.29188	0.073;0.236	B;B	0.24006	0.049;0.05	T	0.06391	-1.0829	9	.	.	.	-13.9021	13.7468	0.62881	0.0:0.9249:0.0:0.0751	.	265;315	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	L	265;321;315;315	ENSP00000320968:F265L;ENSP00000323474:F315L;ENSP00000387739:F315L	.	F	+	3	2	AMOTL1	94172949	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.520000	0.35899	1.164000	0.42652	-0.300000	0.09419	TTC		0.597	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3		NM_130847		24	165	1	0	2.21704e-12	0.00278	2.45088e-12	24	165		
BTG4	54766	broad.mit.edu	37	11	111369384	111369384	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:111369384C>G	ENST00000356018.2	-	2	317	c.118G>C	c.(118-120)Gaa>Caa	p.E40Q	BTG4_ENST00000525791.1_Missense_Mutation_p.E40Q	NM_017589.3	NP_060059.1	Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	40					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|neuron differentiation (GO:0030182)					large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		CTGTATGTTTCAAACAAGATC	0.408																																						uc001plj.2		NaN																	0					0						c.(118-120)GAA>CAA		B-cell translocation gene 4							126.0	109.0	115.0					11																	111369384		2201	4297	6498	SO:0001583	missense	54766				cell cycle arrest|negative regulation of cell proliferation|neuron differentiation			g.chr11:111369384C>G	AJ271351	CCDS8346.1	11q23	2008-05-27				ENSG00000137707			13862	protein-coding gene	gene with protein product		605673				10995567	Standard	NM_017589		Approved	PC3B	uc001plj.3	Q9NY30		ENST00000356018.2:c.118G>C	11.37:g.111369384C>G	ENSP00000348300:p.Glu40Gln					BTG4_uc001plk.2_Missense_Mutation_p.E40Q	p.E40Q	NM_017589	NP_060059	Q9NY30	BTG4_HUMAN		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)	2	303	-		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	40					Q8NEH7	Missense_Mutation	SNP	ENST00000356018.2	37	c.118G>C	CCDS8346.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273424	0.80580	.	.	ENSG00000137707	ENST00000356018;ENST00000525791;ENST00000456861	.	.	.	5.47	3.61	0.41365	Anti-proliferative protein (3);	0.153604	0.64402	D	0.000018	T	0.75398	0.3844	M	0.81942	2.565	0.48696	D	0.999695	P;D	0.71674	0.755;0.998	P;P	0.60541	0.61;0.876	T	0.76537	-0.2923	9	0.52906	T	0.07	.	11.893	0.52641	0.0:0.8566:0.0:0.1434	.	40;40	Q8NEH7;Q9NY30	.;BTG4_HUMAN	Q	40	.	ENSP00000348300:E40Q	E	-	1	0	BTG4	110874594	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.150000	0.50662	0.696000	0.31696	0.591000	0.81541	GAA		0.408	BTG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391177.1				28	10	0	0	0	0.004656	0	28	10		
GRAMD1B	57476	broad.mit.edu	37	11	123483472	123483472	+	Silent	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:123483472C>G	ENST00000529750.1	+	14	1821	c.1494C>G	c.(1492-1494)gtC>gtG	p.V498V	GRAMD1B_ENST00000456860.2_Silent_p.V505V|GRAMD1B_ENST00000450171.2_Silent_p.V189V|GRAMD1B_ENST00000322282.7_Silent_p.V498V	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	498						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TCCTCAGGGTCTCCACAGAGC	0.537																																						uc001pyx.2		NaN																	0				ovary(1)	1						c.(1492-1494)GTC>GTG		GRAM domain containing 1B							36.0	37.0	36.0					11																	123483472		1953	4148	6101	SO:0001819	synonymous_variant	57476					integral to membrane		g.chr11:123483472C>G	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1494C>G	11.37:g.123483472C>G						GRAMD1B_uc001pyw.2_Silent_p.V505V|GRAMD1B_uc010rzw.1_Silent_p.V458V|GRAMD1B_uc010rzx.1_Silent_p.V458V|GRAMD1B_uc001pyy.2_Silent_p.V189V	p.V498V	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)	14	1823	+		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	498					Q6UW85|Q9ULL9	Silent	SNP	ENST00000529750.1	37	c.1494C>G	CCDS53720.1																																																																																				0.537	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2		XM_370660		16	6	0	0	0	0.00499	0	16	6		
ROBO3	64221	broad.mit.edu	37	11	124747869	124747869	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:124747869G>A	ENST00000397801.1	+	21	3215	c.3023G>A	c.(3022-3024)aGg>aAg	p.R1008K	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_5'UTR|ROBO3_ENST00000538940.1_Missense_Mutation_p.R986K	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1008					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CAGACGGCCAGGGGCACGGCC	0.597																																						uc001qbc.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(3022-3024)AGG>AAG		roundabout, axon guidance receptor, homolog 3							12.0	13.0	13.0					11																	124747869		1839	4080	5919	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124747869G>A	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.3023G>A	11.37:g.124747869G>A	ENSP00000380903:p.Arg1008Lys					ROBO3_uc010saq.1_3'UTR|ROBO3_uc001qbd.2_5'UTR|ROBO3_uc010sar.1_Missense_Mutation_p.R57K|ROBO3_uc001qbe.2_5'UTR|ROBO3_uc001qbf.1_5'UTR	p.R1008K	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	21	3215	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	1008			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000397801.1	37	c.3023G>A	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	5.584	0.292554	0.10567	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.60797	0.16;0.17	5.48	3.61	0.41365	.	0.224195	0.22797	N	0.055536	T	0.31104	0.0786	N	0.16478	0.41	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16778	-1.0391	10	0.02654	T	1	.	5.1053	0.14781	0.3194:0.1444:0.5363:0.0	.	1008	Q96MS0	ROBO3_HUMAN	K	1008;986	ENSP00000380903:R1008K;ENSP00000441797:R986K	ENSP00000380903:R1008K	R	+	2	0	ROBO3	124253079	1.000000	0.71417	0.966000	0.40874	0.635000	0.38103	3.213000	0.51153	0.681000	0.31386	0.655000	0.94253	AGG		0.597	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1		XM_370663		3	17	0	0	0	0.004672	0	3	17		
SLC6A12	6539	broad.mit.edu	37	12	306659	306659	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:306659A>C	ENST00000428720.1	-	10	1702	c.959T>G	c.(958-960)aTc>aGc	p.I320S	SLC6A12_ENST00000536824.1_Missense_Mutation_p.I320S|SLC6A12_ENST00000424061.2_Missense_Mutation_p.I320S|SLC6A12_ENST00000359674.4_Missense_Mutation_p.I320S|SLC6A12_ENST00000397296.2_Missense_Mutation_p.I320S|SLC6A12_ENST00000538272.1_5'Flank	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	320					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GCAGAGGGCGATGCAGTCCCT	0.557																																						uc001qhz.2		NaN																	0				ovary(1)	1						c.(958-960)ATC>AGC		solute carrier family 6 (neurotransmitter							65.0	54.0	58.0					12																	306659		2203	4300	6503	SO:0001583	missense	6539				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:306659A>C	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.959T>G	12.37:g.306659A>C	ENSP00000388184:p.Ile320Ser					SLC6A12_uc001qhx.2_5'UTR|SLC6A12_uc001qhy.2_5'UTR|SLC6A12_uc001qia.2_Missense_Mutation_p.I320S|SLC6A12_uc001qib.2_Missense_Mutation_p.I320S|SLC6A12_uc009zdh.1_Missense_Mutation_p.I320S	p.I320S	NM_003044	NP_003035	P48065	S6A12_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00227)		11	1502	-	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		320			Helical; Name=7; (Potential).		A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	ENST00000428720.1	37	c.959T>G	CCDS8501.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.485799	0.84854	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	4.44	4.44	0.53790	.	0.299412	0.31495	N	0.007541	D	0.89574	0.6754	M	0.90870	3.155	0.48395	D	0.999649	D	0.63046	0.992	D	0.70935	0.971	D	0.91947	0.5568	10	0.87932	D	0	.	13.8812	0.63684	1.0:0.0:0.0:0.0	.	320	P48065	S6A12_HUMAN	S	320	ENSP00000352702:I320S;ENSP00000380464:I320S;ENSP00000388184:I320S;ENSP00000399136:I320S;ENSP00000444268:I320S	ENSP00000352702:I320S	I	-	2	0	SLC6A12	176920	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.009000	0.93606	1.865000	0.54081	0.533000	0.62120	ATC		0.557	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2		NM_003044		4	36	0	0	0	0.000602	0	4	36		
CCDC77	84318	broad.mit.edu	37	12	550970	550970	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:550970C>A	ENST00000239830.4	+	13	1530	c.1351C>A	c.(1351-1353)Ctt>Att	p.L451I	CCDC77_ENST00000540180.1_Missense_Mutation_p.L419I|CCDC77_ENST00000422000.1_Missense_Mutation_p.L419I|CCDC77_ENST00000412006.2_Missense_Mutation_p.L419I	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	451						centrosome (GO:0005813)|membrane (GO:0016020)				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			AAACCAGGATCTTGCCCTTCT	0.433																																						uc001qig.2		NaN																	0				ovary(1)	1						c.(1351-1353)CTT>ATT		coiled-coil domain containing 77 isoform a							102.0	100.0	100.0					12																	550970		2203	4300	6503	SO:0001583	missense	84318					centrosome		g.chr12:550970C>A	AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.1351C>A	12.37:g.550970C>A	ENSP00000239830:p.Leu451Ile					CCDC77_uc009zdk.2_Missense_Mutation_p.L419I|CCDC77_uc010sdp.1_Missense_Mutation_p.L419I|CCDC77_uc010sdq.1_Missense_Mutation_p.L419I	p.L451I	NM_032358	NP_115734	Q9BR77	CCD77_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)		13	1531	+	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		451			Potential.		B4DDE8	Missense_Mutation	SNP	ENST00000239830.4	37	c.1351C>A	CCDS8503.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833949	0.50951	.	.	ENSG00000120647	ENST00000540180;ENST00000422000;ENST00000239830;ENST00000412006	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.54	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.62792	0.2457	M	0.69358	2.11	0.48511	D	0.999665	D	0.89917	1.0	D	0.66602	0.945	T	0.58042	-0.7706	10	0.30078	T	0.28	-13.0518	14.1504	0.65381	0.0:0.9277:0.0:0.0723	.	451	Q9BR77	CCD77_HUMAN	I	419;419;451;419	ENSP00000440554:L419I;ENSP00000391870:L419I;ENSP00000239830:L451I;ENSP00000412925:L419I	ENSP00000239830:L451I	L	+	1	0	CCDC77	421231	1.000000	0.71417	0.997000	0.53966	0.427000	0.31564	1.905000	0.39878	2.759000	0.94783	0.563000	0.77884	CTT		0.433	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251296.1		NM_032358		13	116	1	0	7.03913e-09	0.001368	7.59668e-09	13	116		
WNK1	65125	broad.mit.edu	37	12	994879	994879	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:994879G>A	ENST00000315939.6	+	19	5552	c.4909G>A	c.(4909-4911)Gaa>Aaa	p.E1637K	WNK1_ENST00000537687.1_Missense_Mutation_p.E1897K|WNK1_ENST00000340908.4_Missense_Mutation_p.E1230K|WNK1_ENST00000530271.2_Missense_Mutation_p.E2135K|WNK1_ENST00000535572.1_Missense_Mutation_p.E1390K	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1637					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCATTGTCCTGAAGTAGATTC	0.473																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3		NaN																	0				stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(4909-4911)GAA>AAA		WNK lysine deficient protein kinase 1							89.0	88.0	88.0					12																	994879		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:994879G>A	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4909G>A	12.37:g.994879G>A	ENSP00000313059:p.Glu1637Lys					WNK1_uc001qip.3_Missense_Mutation_p.E1390K|WNK1_uc001qir.3_Missense_Mutation_p.E810K	p.E1637K	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		19	5416	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1637					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.4909G>A	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924496	0.52653	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.74947	-0.88;-0.8;-0.83;-0.89;0.3	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000002	T	0.79633	0.4479	M	0.65498	2.005	0.44771	D	0.997777	P;P;P	0.49559	0.925;0.925;0.877	P;P;B	0.47162	0.54;0.54;0.339	T	0.81885	-0.0727	10	0.87932	D	0	-10.2427	20.1272	0.97986	0.0:0.0:1.0:0.0	.	1390;1390;1637	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	K	1390;1637;1897;810;2135;1230	ENSP00000441972:E1390K;ENSP00000313059:E1637K;ENSP00000444465:E1897K;ENSP00000433548:E2135K;ENSP00000341292:E1230K	ENSP00000252477:E810K	E	+	1	0	WNK1	865140	1.000000	0.71417	0.981000	0.43875	0.637000	0.38172	8.968000	0.93407	2.828000	0.97474	0.655000	0.94253	GAA		0.473	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1		NM_018979		71	68	0	0	0	0.00361	0	71	68		
WNK1	65125	broad.mit.edu	37	12	994963	994963	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:994963G>A	ENST00000315939.6	+	19	5636	c.4993G>A	c.(4993-4995)Gaa>Aaa	p.E1665K	WNK1_ENST00000537687.1_Missense_Mutation_p.E1925K|WNK1_ENST00000340908.4_Missense_Mutation_p.E1258K|WNK1_ENST00000530271.2_Missense_Mutation_p.E2163K|WNK1_ENST00000535572.1_Missense_Mutation_p.E1418K	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1665					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCTGTTCAGTGAACACAGCTC	0.478																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3		NaN																	0				stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(4993-4995)GAA>AAA		WNK lysine deficient protein kinase 1							89.0	82.0	84.0					12																	994963		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:994963G>A	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4993G>A	12.37:g.994963G>A	ENSP00000313059:p.Glu1665Lys					WNK1_uc001qip.3_Missense_Mutation_p.E1418K|WNK1_uc001qir.3_Missense_Mutation_p.E838K	p.E1665K	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		19	5500	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1665					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.4993G>A	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273262	0.80580	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.74737	-0.85;-0.78;-0.81;-0.87;0.31	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000002	D	0.85418	0.5692	M	0.61703	1.905	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.993;0.988	D;P;P	0.71414	0.973;0.879;0.76	D	0.85118	0.0967	10	0.72032	D	0.01	-16.9859	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1418;1418;1665	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	K	1418;1665;1925;838;2163;1258	ENSP00000441972:E1418K;ENSP00000313059:E1665K;ENSP00000444465:E1925K;ENSP00000433548:E2163K;ENSP00000341292:E1258K	ENSP00000252477:E838K	E	+	1	0	WNK1	865224	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	8.782000	0.91809	2.941000	0.99782	0.655000	0.94253	GAA		0.478	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1		NM_018979		57	53	0	0	0	0.00361	0	57	53		
DYRK4	8798	broad.mit.edu	37	12	4722735	4722735	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:4722735T>C	ENST00000540757.2	+	13	1539	c.1379T>C	c.(1378-1380)gTt>gCt	p.V460A	RP11-500M8.7_ENST00000536588.1_Intron|DYRK4_ENST00000543431.1_Missense_Mutation_p.V459A|DYRK4_ENST00000545342.1_Missense_Mutation_p.V97A|DYRK4_ENST00000010132.5_Missense_Mutation_p.V460A	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	460						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ACGAAGCATGTTCAGCATTCA	0.493																																						uc001qmx.2		NaN																	0				lung(2)|skin(1)	3						c.(1378-1380)GTT>GCT		dual-specificity tyrosine-(Y)-phosphorylation							87.0	78.0	81.0					12																	4722735		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4722735T>C	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.1379T>C	12.37:g.4722735T>C	ENSP00000441755:p.Val460Ala					DYRK4_uc001qmy.1_Missense_Mutation_p.V459A|DYRK4_uc001qmz.1_Missense_Mutation_p.V173A|DYRK4_uc001qna.1_Missense_Mutation_p.V96A|DYRK4_uc010ser.1_Missense_Mutation_p.V97A	p.V460A	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		13	1539	+			460					A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.1379T>C	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	T	7.783	0.709911	0.15239	.	.	ENSG00000010219	ENST00000540757;ENST00000010132;ENST00000543431;ENST00000545342	T;T;T;T	0.62364	0.05;0.05;0.03;1.04	5.15	-5.47	0.02600	.	1.753840	0.02902	N	0.135495	T	0.38054	0.1026	L	0.29908	0.895	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.22103	-1.0226	10	0.07990	T	0.79	.	0.1442	0.00086	0.2712:0.2353:0.2401:0.2535	.	173;459;460	B4E1A4;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	A	460;460;459;97	ENSP00000441755:V460A;ENSP00000010132:V460A;ENSP00000439697:V459A;ENSP00000446005:V97A	ENSP00000010132:V460A	V	+	2	0	DYRK4	4592996	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.533000	0.06157	-0.502000	0.06596	0.528000	0.53228	GTT		0.493	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2				10	89	0	0	0	0.008291	0	10	89		
GRIN2B	2904	broad.mit.edu	37	12	13717440	13717440	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:13717440A>C	ENST00000609686.1	-	13	2941	c.2732T>G	c.(2731-2733)cTg>cGg	p.L911R		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	911					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CACACCAGACAGGTTAGCCAT	0.582																																						uc001rbt.2		NaN																	0				central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(2731-2733)CTG>CGG		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						169.0	156.0	160.0					12																	13717440		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717440A>C		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2732T>G	12.37:g.13717440A>C	ENSP00000477455:p.Leu911Arg						p.L911R	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			13	2911	-			911			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2732T>G	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.167815	0.57476	.	.	ENSG00000150086	ENST00000279593	T	0.13420	2.59	5.43	5.43	0.79202	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.082938	0.51477	D	0.000091	T	0.31327	0.0793	L	0.50333	1.59	0.80722	D	1	D	0.63880	0.993	D	0.67231	0.95	T	0.01697	-1.1293	10	0.66056	D	0.02	.	15.474	0.75461	1.0:0.0:0.0:0.0	.	911	Q13224	NMDE2_HUMAN	R	911	ENSP00000279593:L911R	ENSP00000279593:L911R	L	-	2	0	GRIN2B	13608707	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	7.505000	0.81655	2.071000	0.62044	0.533000	0.62120	CTG		0.582	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2				65	270	0	0	0	0.00361	0	65	270		
SOX5	6660	broad.mit.edu	37	12	23999053	23999053	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:23999053T>A	ENST00000451604.2	-	3	446	c.345A>T	c.(343-345)gaA>gaT	p.E115D	SOX5_ENST00000546136.1_Missense_Mutation_p.E102D|SOX5_ENST00000381381.2_Missense_Mutation_p.E102D|SOX5_ENST00000541536.1_Missense_Mutation_p.E102D|SOX5_ENST00000537393.1_Missense_Mutation_p.E80D|SOX5_ENST00000309359.1_Missense_Mutation_p.E102D|SOX5_ENST00000441133.2_Missense_Mutation_p.E80D|SOX5_ENST00000545921.1_Missense_Mutation_p.E105D|SOX5_ENST00000541847.1_Missense_Mutation_p.E105D			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	115					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GTCGCCCACCTTCTTCTGCCT	0.478																																						uc001rfw.2		NaN																	0				ovary(5)|lung(1)	6						c.(343-345)GAA>GAT		SRY (sex determining region Y)-box 5 isoform a							123.0	110.0	115.0					12																	23999053		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23999053T>A	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.345A>T	12.37:g.23999053T>A	ENSP00000398273:p.Glu115Asp					SOX5_uc001rfx.2_Missense_Mutation_p.E102D|SOX5_uc001rfy.2_Missense_Mutation_p.E102D|SOX5_uc010siv.1_Missense_Mutation_p.E102D|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.E67D|SOX5_uc001rga.2_Missense_Mutation_p.E80D	p.E115D	NM_006940	NP_008871	P35711	SOX5_HUMAN			3	447	-			115					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.345A>T	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.003518	0.74932	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000441133;ENST00000538083	D;D;D;D;D;D;D	0.97665	-4.48;-4.48;-4.44;-4.48;-4.37;-4.44;-4.48	5.79	5.79	0.91817	.	0.237876	0.43919	D	0.000503	D	0.94016	0.8083	L	0.39147	1.195	0.31616	N	0.650928	B;B;B;B	0.27732	0.004;0.014;0.187;0.008	B;B;B;B	0.27500	0.006;0.044;0.08;0.016	D	0.93094	0.6502	10	0.44086	T	0.13	.	10.466	0.44607	0.0:0.0722:0.0:0.9278	.	80;80;102;115	G3V0H1;F5H0I3;P35711-4;P35711	.;.;.;SOX5_HUMAN	D	102;102;102;115;67;80;102;105;105;80;102	ENSP00000437487:E102D;ENSP00000308927:E102D;ENSP00000370788:E102D;ENSP00000398273:E115D;ENSP00000439832:E80D;ENSP00000441973:E102D;ENSP00000443520:E105D	ENSP00000308927:E102D	E	-	3	2	SOX5	23890320	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.822000	0.48073	2.215000	0.71742	0.528000	0.53228	GAA		0.478	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2		NM_006940		13	155	0	0	0	0.00245	0	13	155		
KMT2D	8085	broad.mit.edu	37	12	49431524	49431525	+	Missense_Mutation	DNP	TC	TC	CA			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08			TC	CA	TC	TC		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:49431524_49431525TC>CA	ENST00000301067.7	-	34	9613_9614	c.9614_9615GA>TG	c.(9613-9615)gGA>gTG	p.G3205V	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3205					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G2935V(1)|p.G3205V(1)									GGGAGGATCCTCCTGGGCCACT	0.599																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		2	Substitution - Missense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(9613-9615)GGA>GTG		myeloid/lymphoid or mixed-lineage leukemia 2																																				SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49431524_49431525TC>CA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.9614_9615delinsCA	12.37:g.49431524_49431525delinsCA	ENSP00000301067:p.Gly3205Val	HNSCC(34;0.089)					p.G3205V	NM_003482	NP_003473	O14686	MLL2_HUMAN			34	9614_9615	-			3205					O14687	Missense_Mutation	DNP	ENST00000301067.7	37	c.9614_9615GA>TG	CCDS44873.1																																																																																				0.599	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				4	21	0	0	0	0.004672	0	4	21		
ERBB3	2065	broad.mit.edu	37	12	56480394	56480394	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:56480394G>C	ENST00000267101.3	+	4	941	c.501G>C	c.(499-501)gtG>gtC	p.V167V	ERBB3_ENST00000415288.2_Silent_p.V108V|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	167					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GGGACATCGTGAGGGACCGAG	0.493																																						uc001sjh.2		NaN																	0				lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(499-501)GTG>GTC		erbB-3 isoform 1 precursor							285.0	230.0	249.0					12																	56480394		2203	4300	6503	SO:0001819	synonymous_variant	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56480394G>C	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.501G>C	12.37:g.56480394G>C						ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Silent_p.V108V|ERBB3_uc001sji.2_5'Flank	p.V167V	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		4	694	+			167			Extracellular (Potential).		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Silent	SNP	ENST00000267101.3	37	c.501G>C	CCDS31833.1																																																																																				0.493	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3				30	254	0	0	0	0.012213	0	30	254		
NAB2	4665	broad.mit.edu	37	12	57485446	57485446	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:57485446T>C	ENST00000300131.3	+	2	1000	c.622T>C	c.(622-624)Ttc>Ctc	p.F208L	NAB2_ENST00000342556.6_Missense_Mutation_p.F208L|NAB2_ENST00000357680.4_Missense_Mutation_p.F208L|NAB2_ENST00000554718.1_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	208					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.F208L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCGCCCCCCTTCTCCCCCCC	0.716																																						uc001smz.2		NaN																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(622-624)TTC>CTC		NGFI-A binding protein 2							12.0	17.0	15.0					12																	57485446		2196	4277	6473	SO:0001583	missense	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485446T>C	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.622T>C	12.37:g.57485446T>C	ENSP00000300131:p.Phe208Leu						p.F208L	NM_005967	NP_005958	Q15742	NAB2_HUMAN			2	1000	+			208					B2RAK3|O76006|Q14797	Missense_Mutation	SNP	ENST00000300131.3	37	c.622T>C	CCDS8930.1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.473597	0.26423	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	4.15	4.15	0.48705	NAB co-repressor, domain (1);	0.441905	0.22768	N	0.055868	T	0.21801	0.0525	N	0.11427	0.14	0.33270	D	0.560932	P	0.43826	0.818	B	0.41466	0.358	T	0.14392	-1.0474	9	0.10902	T	0.67	-12.462	9.5058	0.39046	0.0:0.0:0.0:1.0	.	208	Q15742	NAB2_HUMAN	L	208	.	ENSP00000300131:F208L	F	+	1	0	NAB2	55771713	0.994000	0.37717	0.852000	0.33557	0.975000	0.68041	0.652000	0.24888	1.732000	0.51606	0.379000	0.24179	TTC		0.716	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1		NM_005967		7	51	0	0	0	0.008871	0	7	51		
PIP4K2C	79837	broad.mit.edu	37	12	57985171	57985171	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:57985171C>T	ENST00000354947.5	+	1	115	c.99C>T	c.(97-99)ttC>ttT	p.F33F	PIP4K2C_ENST00000422156.3_Silent_p.F33F|PIP4K2C_ENST00000540759.2_Silent_p.F33F|PIP4K2C_ENST00000550465.1_Silent_p.F33F			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	33						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					AGAAGCATTTCGTGCAGCAGA	0.662																																						uc001sou.2		NaN																	0				central_nervous_system(2)|lung(1)	3						c.(97-99)TTC>TTT		phosphatidylinositol-5-phosphate 4-kinase, type							112.0	117.0	115.0					12																	57985171		2203	4300	6503	SO:0001819	synonymous_variant	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57985171C>T	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.99C>T	12.37:g.57985171C>T						PIP4K2C_uc001sot.2_Silent_p.F33F|PIP4K2C_uc010srs.1_Silent_p.F33F|PIP4K2C_uc010srt.1_Silent_p.F33F	p.F33F	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN			1	230	+	Melanoma(17;0.122)		33					B2RDL3|B4DM11|B4DY44|Q9H6N2	Silent	SNP	ENST00000354947.5	37	c.99C>T	CCDS8946.1																																																																																				0.662	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1		NM_024779		101	258	0	0	0	0.00361	0	101	258		
IRAK3	11213	broad.mit.edu	37	12	66639035	66639035	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:66639035T>C	ENST00000261233.4	+	11	1728	c.1307T>C	c.(1306-1308)aTg>aCg	p.M436T	IRAK3_ENST00000457197.2_Missense_Mutation_p.M375T	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		AGACCATCAATGGATGAAGTG	0.418																																						uc001sth.2		NaN																	0				lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8						c.(1306-1308)ATG>ACG		interleukin-1 receptor-associated kinase 3							69.0	71.0	71.0					12																	66639035		2203	4300	6503	SO:0001583	missense	11213				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66639035T>C	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1307T>C	12.37:g.66639035T>C	ENSP00000261233:p.Met436Thr					IRAK3_uc010ssy.1_Missense_Mutation_p.M375T	p.M436T	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	11	1409	+			436			Protein kinase.			Missense_Mutation	SNP	ENST00000261233.4	37	c.1307T>C	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.466437	0.43839	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.35973	1.28;1.28	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.044083	0.85682	D	0.000000	T	0.64283	0.2584	M	0.90759	3.145	0.53688	D	0.99997	D;D	0.69078	0.996;0.997	P;D	0.65140	0.889;0.932	T	0.71781	-0.4489	9	.	.	.	-26.4687	12.7041	0.57051	0.0:0.0:0.0:1.0	.	375;436	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	T	436;375	ENSP00000261233:M436T;ENSP00000409852:M375T	.	M	+	2	0	IRAK3	64925302	1.000000	0.71417	0.985000	0.45067	0.048000	0.14542	3.298000	0.51818	2.254000	0.74563	0.459000	0.35465	ATG		0.418	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1				77	372	0	0	0	0.00361	0	77	372		
IFNG	3458	broad.mit.edu	37	12	68553296	68553296	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:68553296G>C	ENST00000229135.3	-	1	231	c.100C>G	c.(100-102)Ctt>Gtt	p.L34V	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	34					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell cycle arrest (GO:0007050)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to interleukin-18 (GO:0071351)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|extrinsic apoptotic signaling pathway (GO:0097191)|humoral immune response (GO:0006959)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of myelination (GO:0031642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil apoptotic process (GO:0001781)|neutrophil chemotaxis (GO:0030593)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity (GO:0060550)|positive regulation of fructose 1,6-bisphosphate metabolic process (GO:0060552)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|regulation of insulin secretion (GO:0050796)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of the force of heart contraction (GO:0002026)|response to drug (GO:0042493)|response to virus (GO:0009615)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|interferon-gamma receptor binding (GO:0005133)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Olsalazine(DB01250)	TATTTCTTAAGGTTTTCTGCT	0.363																																						uc001stw.1		NaN																	0					0						c.(100-102)CTT>GTT		interferon, gamma precursor	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)						43.0	41.0	42.0					12																	68553296		2203	4298	6501	SO:0001583	missense	3458				cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding	g.chr12:68553296G>C		CCDS8980.1	12q14	2007-10-17			ENSG00000111537	ENSG00000111537		"""Interferons"""	5438	protein-coding gene	gene with protein product		147570					Standard	NM_000619		Approved		uc001stw.1	P01579	OTTHUMG00000169113	ENST00000229135.3:c.100C>G	12.37:g.68553296G>C	ENSP00000229135:p.Leu34Val						p.L34V	NM_000619	NP_000610	P01579	IFNG_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	1	226	-			34					B5BU88|Q53ZV4	Missense_Mutation	SNP	ENST00000229135.3	37	c.100C>G	CCDS8980.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275743	0.40294	.	.	ENSG00000111537	ENST00000229135	T	0.62639	0.01	5.12	1.2	0.21068	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.081264	0.51477	D	0.000092	T	0.72170	0.3427	M	0.86651	2.83	0.09310	N	1	D	0.54964	0.969	P	0.59012	0.85	T	0.62728	-0.6793	9	.	.	.	-10.5482	3.3809	0.07254	0.283:0.0:0.5359:0.1811	.	34	P01579	IFNG_HUMAN	V	34	ENSP00000229135:L34V	.	L	-	1	0	IFNG	66839563	0.370000	0.25047	0.001000	0.08648	0.036000	0.12997	1.222000	0.32515	0.381000	0.24851	0.491000	0.48974	CTT		0.363	IFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402301.1				5	51	0	0	0	0.000602	0	5	51		
CORO1C	23603	broad.mit.edu	37	12	109095064	109095064	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:109095064G>A	ENST00000261401.3	-	2	203	c.31C>T	c.(31-33)Cgg>Tgg	p.R11W	CORO1C_ENST00000541050.1_Missense_Mutation_p.R11W|CORO1C_ENST00000420959.2_Missense_Mutation_p.R64W|CORO1C_ENST00000549772.1_Missense_Mutation_p.R17W|CORO1C_ENST00000549384.1_Intron	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	11					actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						AATACATGCCGAAACTTGCTC	0.443																																						uc001tnj.2		NaN																	0				skin(3)	3						c.(31-33)CGG>TGG		coronin, actin binding protein, 1C isoform 1							152.0	124.0	134.0					12																	109095064		2203	4300	6503	SO:0001583	missense	23603				actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	g.chr12:109095064G>A	BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"""Coronins"", ""WD repeat domain containing"""	2254	protein-coding gene	gene with protein product		605269	"""coronin, actin-binding protein, 1C"""			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.31C>T	12.37:g.109095064G>A	ENSP00000261401:p.Arg11Trp					CORO1C_uc009zva.2_Missense_Mutation_p.R64W|CORO1C_uc010sxf.1_Missense_Mutation_p.R11W	p.R11W	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN			2	127	-			11					A7MAP0|A7MAP1|B3KU12|Q9NSK5	Missense_Mutation	SNP	ENST00000261401.3	37	c.31C>T	CCDS9120.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577721	0.86645	.	.	ENSG00000110880	ENST00000261401;ENST00000541050;ENST00000549772;ENST00000420959;ENST00000547294;ENST00000550032;ENST00000551550;ENST00000546571;ENST00000551044	T;T;T;T;T;T;T;T;D	0.84873	-1.02;-1.02;-0.98;-1.19;-1.11;-0.71;-1.24;-1.47;-1.91	5.42	3.4	0.38934	Domain of unknown function DUF1899 (1);	0.000000	0.85682	D	0.000000	D	0.94138	0.8120	H	0.96080	3.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94969	0.8115	10	0.87932	D	0	-2.4426	11.8184	0.52224	0.0709:0.0:0.7982:0.131	.	11;64;11	B4DMH3;A7MAP1;Q9ULV4	.;.;COR1C_HUMAN	W	11;11;17;64;11;11;11;11;11	ENSP00000261401:R11W;ENSP00000438341:R11W;ENSP00000447534:R17W;ENSP00000394496:R64W;ENSP00000449330:R11W;ENSP00000447989:R11W;ENSP00000448527:R11W;ENSP00000448195:R11W;ENSP00000447049:R11W	ENSP00000261401:R11W	R	-	1	2	CORO1C	107619193	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.534000	0.82004	1.294000	0.44707	0.586000	0.80456	CGG		0.443	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403802.1		NM_014325		10	165	0	0	0	0.010729	0	10	165		
KNTC1	9735	broad.mit.edu	37	12	123072359	123072359	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:123072359T>G	ENST00000333479.7	+	39	4009	c.3832T>G	c.(3832-3834)Tca>Gca	p.S1278A	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1278					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGTGGTTGGTTCATTTGGTAC	0.423																																						uc001ucv.2		NaN																	0				ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(3832-3834)TCA>GCA		Rough Deal homolog, centromere/kinetochore							136.0	122.0	126.0					12																	123072359		1873	4121	5994	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123072359T>G		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.3832T>G	12.37:g.123072359T>G	ENSP00000328236:p.Ser1278Ala					KNTC1_uc010taf.1_Intron	p.S1278A	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	39	3995	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1278					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.3832T>G	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	T	12.09	1.834024	0.32421	.	.	ENSG00000184445	ENST00000333479	T	0.14266	2.52	5.7	5.7	0.88788	.	0.063724	0.64402	D	0.000004	T	0.13457	0.0326	M	0.64997	1.995	0.80722	D	1	P	0.35192	0.489	B	0.23018	0.043	T	0.02632	-1.1131	10	0.54805	T	0.06	-14.5244	10.0799	0.42384	0.1499:0.0:0.0:0.8501	.	1278	P50748	KNTC1_HUMAN	A	1278	ENSP00000328236:S1278A	ENSP00000328236:S1278A	S	+	1	0	KNTC1	121638312	0.541000	0.26417	0.289000	0.24876	0.995000	0.86356	1.869000	0.39519	2.171000	0.68590	0.379000	0.24179	TCA		0.423	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2				3	37	0	0	0	0.009096	0	3	37		
KNTC1	9735	broad.mit.edu	37	12	123078909	123078909	+	Silent	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:123078909A>C	ENST00000333479.7	+	43	4509	c.4332A>C	c.(4330-4332)acA>acC	p.T1444T	KNTC1_ENST00000545065.1_3'UTR|KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1444					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ATATGGACACAAGCCTCATTT	0.323																																						uc001ucv.2		NaN																	0				ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10						c.(4330-4332)ACA>ACC		Rough Deal homolog, centromere/kinetochore							122.0	123.0	123.0					12																	123078909		1812	4074	5886	SO:0001819	synonymous_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123078909A>C		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4332A>C	12.37:g.123078909A>C						KNTC1_uc010taf.1_Intron	p.T1444T	NM_014708	NP_055523	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	43	4495	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1444					A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	c.4332A>C	CCDS45002.1																																																																																				0.323	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2				24	42	0	0	0	0.003954	0	24	42		
MPHOSPH9	10198	broad.mit.edu	37	12	123687540	123687540	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:123687540C>A	ENST00000606320.1	-	10	1618	c.1412G>T	c.(1411-1413)aGa>aTa	p.R471I	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.R441I|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.R319I|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.R319I			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	471						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		AAAGGATATTCTGTCATCAAG	0.463																																						uc001uel.2		NaN																	0					0						c.(955-957)AGA>ATA		M-phase phosphoprotein 9							115.0	124.0	121.0					12																	123687540		2203	4300	6503	SO:0001583	missense	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123687540C>A	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.1412G>T	12.37:g.123687540C>A	ENSP00000475489:p.Arg471Ile					MPHOSPH9_uc010tal.1_Intron|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Intron	p.R319I	NM_022782	NP_073619	Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	6	1063	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		319					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37	c.956G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.44|14.44	2.535299|2.535299	0.45176|0.45176	.|.	.|.	ENSG00000257076|ENSG00000051825	ENST00000539336|ENST00000302349;ENST00000541076	.|T;T	.|0.37235	.|1.21;1.23	6.03|6.03	4.16|4.16	0.48862|0.48862	.|.	.|0.238503	.|0.40908	.|D	.|0.000998	T|T	0.32971|0.32971	0.0847|0.0847	L|L	0.54323|0.54323	1.7|1.7	0.36655|0.36655	D|D	0.877621|0.877621	.|B	.|0.27140	.|0.169	.|B	.|0.28553	.|0.091	T|T	0.22417|0.22417	-1.0217|-1.0217	5|10	.|0.17832	.|T	.|0.49	-13.6601|-13.6601	12.8491|12.8491	0.57848|0.57848	0.1208:0.6465:0.2327:0.0|0.1208:0.6465:0.2327:0.0	.|.	.|319	.|Q99550	.|MPP9_HUMAN	H|I	328|319	.|ENSP00000303597:R319I;ENSP00000445859:R319I	.|ENSP00000303597:R319I	Q|R	-|-	3|2	2|0	RP11-546D6.2|MPHOSPH9	122253493|122253493	0.110000|0.110000	0.22057|0.22057	0.652000|0.652000	0.29579|0.29579	0.971000|0.971000	0.66376|0.66376	1.455000|1.455000	0.35190|0.35190	0.827000|0.827000	0.34685|0.34685	0.557000|0.557000	0.71058|0.71058	CAG|AGA		0.463	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2				52	177	1	0	2.01807e-28	0.00361	2.31547e-28	52	177		
GTF2H3	2967	broad.mit.edu	37	12	124144458	124144458	+	Silent	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:124144458C>A	ENST00000543341.2	+	11	832	c.801C>A	c.(799-801)gtC>gtA	p.V267V	GTF2H3_ENST00000228955.7_Silent_p.V226V	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	267					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|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)|translation (GO:0006412)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		TTGGTTATGTCTGTTCTGTGT	0.403								Nucleotide excision repair (NER)																													Melanoma(176;111 2022 3038 14733 36962)	uc001ufo.1		NaN																	0					0						c.(799-801)GTC>GTA	NER	general transcription factor IIH, polypeptide 3,							163.0	150.0	155.0					12																	124144458		2203	4300	6503	SO:0001819	synonymous_variant	2967				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|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|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding	g.chr12:124144458C>A	Z30093	CCDS9252.1, CCDS61275.1, CCDS73544.1	12q24.31	2012-11-05	2002-08-29		ENSG00000111358	ENSG00000111358		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4657	protein-coding gene	gene with protein product		601750	"""general transcription factor IIH, polypeptide 3 (34kD subunit)"""			8194529	Standard	NM_001516		Approved	BTF2, TFIIH, P34	uc001ufo.2	Q13889	OTTHUMG00000168697	ENST00000543341.2:c.801C>A	12.37:g.124144458C>A						GTF2H3_uc010tau.1_Silent_p.V226V	p.V267V	NM_001516	NP_001507	Q13889	TF2H3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)	11	827	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		267					B2R819|B4DNZ6|Q7L0G0|Q96AT7	Silent	SNP	ENST00000543341.2	37	c.801C>A	CCDS9252.1																																																																																				0.403	GTF2H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400641.2		NM_001516		35	62	1	0	1.45844e-13	0.002836	1.62214e-13	35	62		
ULK1	8408	broad.mit.edu	37	12	132379547	132379547	+	Start_Codon_SNP	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:132379547A>G	ENST00000321867.4	+	1	352	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	1					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		cgccTGCGCCATGGAGCCCGG	0.806																																						uc001uje.2		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1-3)ATG>GTG		Unc-51-like kinase 1							4.0	4.0	4.0					12																	132379547		1917	3822	5739	SO:0001582	initiator_codon_variant	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132379547A>G	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.1A>G	12.37:g.132379547A>G	ENSP00000324560:p.Met1Val						p.M1V	NM_003565	NP_003556	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	1	269	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		1					Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	c.1A>G	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	a	7.335	0.619648	0.14193	.	.	ENSG00000177169	ENST00000321867	T	0.65916	-0.18	3.61	1.18	0.20946	.	0.418812	0.18851	U	0.129411	T	0.42404	0.1201	.	.	.	0.09310	N	0.999998	B	0.13594	0.008	B	0.09377	0.004	T	0.32375	-0.9909	9	0.59425	D	0.04	.	1.4256	0.02322	0.3594:0.3588:0.1081:0.1737	.	1	O75385	ULK1_HUMAN	V	1	ENSP00000324560:M1V	ENSP00000324560:M1V	M	+	1	0	ULK1	130945500	0.070000	0.21116	0.056000	0.19401	0.356000	0.29392	0.400000	0.20932	0.550000	0.28991	0.130000	0.15844	ATG		0.806	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			Missense_Mutation	4	7	0	0	0	0.000602	0	4	7		
EP400	57634	broad.mit.edu	37	12	132504716	132504716	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:132504716G>A	ENST00000333577.4	+	23	4617	c.4508G>A	c.(4507-4509)cGa>cAa	p.R1503Q	EP400_ENST00000389561.2_Missense_Mutation_p.R1467Q|EP400_ENST00000330386.6_Missense_Mutation_p.R1467Q|EP400_ENST00000389562.2_Missense_Mutation_p.R1466Q|EP400_ENST00000332482.4_Missense_Mutation_p.R1430Q			Q96L91	EP400_HUMAN	E1A binding protein p400	1503					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGCCCGCTTCGAGGACGGCCG	0.652																																						uc001ujn.2		NaN																	0				central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(4399-4401)CGA>CAA		E1A binding protein p400							42.0	46.0	45.0					12																	132504716		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132504716G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4508G>A	12.37:g.132504716G>A	ENSP00000333602:p.Arg1503Gln					EP400_uc001ujl.2_Missense_Mutation_p.R1466Q|EP400_uc001ujm.2_Missense_Mutation_p.R1467Q	p.R1467Q	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	21	4435	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1503					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.4400G>A		.	.	.	.	.	.	.	.	.	.	G	19.42	3.824557	0.71143	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.90133	-2.62;-2.6;-2.6;-2.58;-2.61	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.94165	0.8128	M	0.61703	1.905	0.32690	N	0.514316	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	D	0.92334	0.5876	10	0.15952	T	0.53	.	19.5163	0.95167	0.0:0.0:1.0:0.0	.	1467;1467;1466	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	Q	1503;1467;1466;1430;1467;1467;1467	ENSP00000333602:R1503Q;ENSP00000374212:R1467Q;ENSP00000374213:R1466Q;ENSP00000331737:R1430Q;ENSP00000330620:R1467Q	ENSP00000330620:R1467Q	R	+	2	0	EP400	131070669	1.000000	0.71417	0.992000	0.48379	0.951000	0.60555	7.281000	0.78621	2.604000	0.88044	0.650000	0.86243	CGA		0.652	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015409		27	94	0	0	0	0.007291	0	27	94		
ATP12A	479	broad.mit.edu	37	13	25276099	25276099	+	Silent	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr13:25276099C>A	ENST00000381946.3	+	14	2075	c.1908C>A	c.(1906-1908)ccC>ccA	p.P636P	RNY1P7_ENST00000384743.1_RNA|ATP12A_ENST00000218548.6_Silent_p.P642P			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	636					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GTGATCATCCCATCACAGCCA	0.478																																					Pancreas(156;1582 1935 18898 22665 26498)	uc001upp.2		NaN																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6						c.(1906-1908)CCC>CCA		hydrogen/potassium-exchanging ATPase 12A	Esomeprazole(DB00736)|Pantoprazole(DB00213)						236.0	202.0	214.0					13																	25276099		2203	4300	6503	SO:0001819	synonymous_variant	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25276099C>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1908C>A	13.37:g.25276099C>A						ATP12A_uc010aaa.2_Silent_p.P642P	p.P636P	NM_001676	NP_001667	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	14	2095	+		Lung SC(185;0.0225)|Breast(139;0.077)	636			Cytoplasmic (Potential).		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	ENST00000381946.3	37	c.1908C>A	CCDS31948.1																																																																																				0.478	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1		NM_001676		13	154	1	0	7.93312e-07	0.00245	8.33054e-07	13	154		
ATP12A	479	broad.mit.edu	37	13	25281419	25281419	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr13:25281419C>T	ENST00000381946.3	+	17	2508	c.2341C>T	c.(2341-2343)Cgc>Tgc	p.R781C	ATP12A_ENST00000218548.6_Missense_Mutation_p.R787C			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	781					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CTGCCTAGGTCGCCTGATCTT	0.532																																					Pancreas(156;1582 1935 18898 22665 26498)	uc001upp.2		NaN																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6						c.(2341-2343)CGC>TGC		hydrogen/potassium-exchanging ATPase 12A	Esomeprazole(DB00736)|Pantoprazole(DB00213)						147.0	146.0	146.0					13																	25281419		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25281419C>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2341C>T	13.37:g.25281419C>T	ENSP00000371372:p.Arg781Cys					ATP12A_uc010aaa.2_Missense_Mutation_p.R787C	p.R781C	NM_001676	NP_001667	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	17	2528	+		Lung SC(185;0.0225)|Breast(139;0.077)	781			Cytoplasmic (Potential).		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.2341C>T	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541964	0.85917	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.97620	-4.46;-4.46	5.66	5.66	0.87406	ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99333	0.9766	H	0.99863	4.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.987	D	0.98254	1.0495	10	0.87932	D	0	.	17.2407	0.87013	0.0:1.0:0.0:0.0	.	787;781	P54707-2;P54707	.;AT12A_HUMAN	C	787;781	ENSP00000218548:R787C;ENSP00000371372:R781C	ENSP00000218548:R787C	R	+	1	0	ATP12A	24179419	1.000000	0.71417	0.997000	0.53966	0.737000	0.42083	5.988000	0.70579	2.648000	0.89879	0.563000	0.77884	CGC		0.532	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1		NM_001676		52	130	0	0	0	0.00361	0	52	130		
BRCA2	675	broad.mit.edu	37	13	32936814	32936814	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr13:32936814C>T	ENST00000380152.3	+	17	8193	c.7960C>T	c.(7960-7962)Ctt>Ttt	p.L2654F	BRCA2_ENST00000544455.1_Missense_Mutation_p.L2654F			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2654					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAGGGTGCTTCTTCAACTAAA	0.373			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NaN	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(7960-7962)CTT>TTT	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							85.0	76.0	79.0					13																	32936814		2203	4300	6503	SO:0001583	missense	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32936814C>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.7960C>T	13.37:g.32936814C>T	ENSP00000369497:p.Leu2654Phe	TCGA Ovarian(8;0.087)					p.L2654F	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	17	8187	+		Lung SC(185;0.0262)	2654					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.7960C>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633649	0.67015	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	D;D	0.86956	-2.19;-2.19	5.66	3.91	0.45181	DNA recombination/repair protein BRCA2, helical domain (2);	0.071649	0.56097	D	0.000030	D	0.89255	0.6663	M	0.82517	2.595	0.49798	D	0.999823	D	0.57257	0.979	P	0.51453	0.67	D	0.87951	0.2723	10	0.66056	D	0.02	.	6.2945	0.21079	0.0:0.6407:0.1396:0.2197	.	2654	P51587	BRCA2_HUMAN	F	2654	ENSP00000369497:L2654F;ENSP00000439902:L2654F	ENSP00000369497:L2654F	L	+	1	0	BRCA2	31834814	0.998000	0.40836	0.902000	0.35471	0.996000	0.88848	3.177000	0.50871	0.840000	0.34995	0.655000	0.94253	CTT		0.373	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2		NM_000059		22	25	0	0	0	0.00333	0	22	25		
BRCA2	675	broad.mit.edu	37	13	32936817	32936817	+	Nonsense_Mutation	SNP	C	C	T	rs397507395|rs397507945		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr13:32936817C>T	ENST00000380152.3	+	17	8196	c.7963C>T	c.(7963-7965)Caa>Taa	p.Q2655*	BRCA2_ENST00000544455.1_Nonsense_Mutation_p.Q2655*			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2655					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GGTGCTTCTTCAACTAAAATA	0.378			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NaN	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(7963-7965)CAA>TAA	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							85.0	75.0	78.0					13																	32936817		2203	4300	6503	SO:0001587	stop_gained	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32936817C>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.7963C>T	13.37:g.32936817C>T	ENSP00000369497:p.Gln2655*	TCGA Ovarian(8;0.087)					p.Q2655*	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	17	8190	+		Lung SC(185;0.0262)	2655					O00183|O15008|Q13879|Q5TBJ7	Nonsense_Mutation	SNP	ENST00000380152.3	37	c.7963C>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	51	17.678076	0.99891	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.1041	0.97884	0.0:1.0:0.0:0.0	.	.	.	.	X	2655	.	ENSP00000369497:Q2655X	Q	+	1	0	BRCA2	31834817	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.758000	0.85224	2.826000	0.97356	0.655000	0.94253	CAA		0.378	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2		NM_000059		22	25	0	0	0	0.00333	0	22	25		
BRCA2	675	broad.mit.edu	37	13	32937596	32937596	+	Missense_Mutation	SNP	C	C	T	rs397507971		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr13:32937596C>T	ENST00000380152.3	+	18	8490	c.8257C>T	c.(8257-8259)Ctt>Ttt	p.L2753F	BRCA2_ENST00000544455.1_Missense_Mutation_p.L2753F			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2753					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GAAGATTATTCTTCATGGAGC	0.438			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NaN	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(8257-8259)CTT>TTT	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							95.0	93.0	93.0					13																	32937596		2203	4300	6503	SO:0001583	missense	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32937596C>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8257C>T	13.37:g.32937596C>T	ENSP00000369497:p.Leu2753Phe	TCGA Ovarian(8;0.087)					p.L2753F	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	18	8484	+		Lung SC(185;0.0262)	2753					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.8257C>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860547	0.32884	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.80653	-1.4;-1.4	5.42	-1.66	0.08265	Nucleic acid-binding, OB-fold-like (1);BRCA2, oligonucleotide/oligosaccharide-binding 1 (1);	1.169080	0.05962	N	0.640710	T	0.70789	0.3264	L	0.29908	0.895	0.09310	N	1	P	0.38677	0.642	B	0.40165	0.321	T	0.62431	-0.6856	10	0.72032	D	0.01	.	6.6167	0.22780	0.26:0.3056:0.4344:0.0	.	2753	P51587	BRCA2_HUMAN	F	2753	ENSP00000369497:L2753F;ENSP00000439902:L2753F	ENSP00000369497:L2753F	L	+	1	0	BRCA2	31835596	0.001000	0.12720	0.000000	0.03702	0.985000	0.73830	1.342000	0.33919	-0.168000	0.10853	0.313000	0.20887	CTT		0.438	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2		NM_000059		21	65	0	0	0	0.012319	0	21	65		
KLF5	688	broad.mit.edu	37	13	73636804	73636804	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr13:73636804C>G	ENST00000377687.4	+	2	1603	c.1067C>G	c.(1066-1068)cCt>cGt	p.P356R	KLF5_ENST00000539231.1_Missense_Mutation_p.P265R	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	356					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		AACATCCAACCTGTCAGATAC	0.453																																						uc001vje.2		NaN																	0				large_intestine(1)|ovary(1)|pancreas(1)	3						c.(1066-1068)CCT>CGT		Kruppel-like factor 5							148.0	147.0	148.0					13																	73636804		2203	4300	6503	SO:0001583	missense	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73636804C>G	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.1067C>G	13.37:g.73636804C>G	ENSP00000366915:p.Pro356Arg					KLF5_uc001vjd.2_Missense_Mutation_p.P265R	p.P356R	NM_001730	NP_001721	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	2	1391	+		Prostate(6;0.00187)|Breast(118;0.0735)	356					L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	ENST00000377687.4	37	c.1067C>G	CCDS9448.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271010	0.40194	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.09911	3.09;2.93	6.05	6.05	0.98169	.	0.145914	0.64402	D	0.000006	T	0.15176	0.0366	L	0.46157	1.445	0.51767	D	0.999938	B	0.06786	0.001	B	0.04013	0.001	T	0.02444	-1.1158	10	0.72032	D	0.01	.	20.6087	0.99469	0.0:1.0:0.0:0.0	.	356	Q13887	KLF5_HUMAN	R	265;356;336	ENSP00000440407:P265R;ENSP00000366915:P356R	ENSP00000366915:P356R	P	+	2	0	KLF5	72534805	0.883000	0.30277	1.000000	0.80357	0.989000	0.77384	4.541000	0.60670	2.866000	0.98385	0.650000	0.86243	CCT		0.453	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1				18	89	0	0	0	0.007413	0	18	89		
DCT	1638	broad.mit.edu	37	13	95121217	95121217	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr13:95121217A>C	ENST00000377028.5	-	2	791	c.378T>G	c.(376-378)atT>atG	p.I126M	DCT_ENST00000490854.1_5'Flank|DCT_ENST00000446125.1_Missense_Mutation_p.I126M	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	126					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TGTTCTGCCGAATCACTGGTG	0.507																																						uc001vlv.3		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(376-378)ATT>ATG		dopachrome tautomerase isoform 1							188.0	191.0	190.0					13																	95121217		2203	4300	6503	SO:0001583	missense	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95121217A>C	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.378T>G	13.37:g.95121217A>C	ENSP00000366227:p.Ile126Met					DCT_uc010afh.2_Missense_Mutation_p.I126M	p.I126M	NM_001922	NP_001913	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	2	805	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	126			Lumenal, melanosome (Potential).		Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	c.378T>G	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	A	7.668	0.686340	0.14973	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.98987	-5.3;-5.3	5.65	-11.3	0.00108	Uncharacterised domain, di-copper centre (2);	1.004320	0.08014	N	0.990912	D	0.95881	0.8659	M	0.64676	1.99	0.09310	N	1	P;B	0.37038	0.579;0.306	B;B	0.30029	0.11;0.074	D	0.88623	0.3164	9	.	.	.	-5.6278	6.599	0.22691	0.115:0.2384:0.4837:0.1629	.	126;126	Q09GT4;P40126	.;TYRP2_HUMAN	M	126	ENSP00000366227:I126M;ENSP00000392762:I126M	.	I	-	3	3	DCT	93919218	0.018000	0.18449	0.000000	0.03702	0.034000	0.12701	-0.610000	0.05629	-3.141000	0.00233	-1.100000	0.02121	ATT		0.507	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3				94	202	0	0	0	0.00361	0	94	202		
RASA3	22821	broad.mit.edu	37	13	114778667	114778667	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr13:114778667G>A	ENST00000334062.7	-	15	1584	c.1463C>T	c.(1462-1464)gCg>gTg	p.A488V	RASA3_ENST00000389544.4_Missense_Mutation_p.A456V	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	488	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.A488E(2)|p.A488V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AATGGCGGGCGCAAAGAACCT	0.617																																						uc001vui.2		NaN																	3	Substitution - Missense(3)		lung(3)	lung(3)|skin(1)	4						c.(1462-1464)GCG>GTG		RAS p21 protein activator 3							112.0	83.0	93.0					13																	114778667		2203	4299	6502	SO:0001583	missense	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114778667G>A		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1463C>T	13.37:g.114778667G>A	ENSP00000335029:p.Ala488Val					RASA3_uc010tkk.1_Missense_Mutation_p.A456V|RASA3_uc001vuj.2_Missense_Mutation_p.A105V	p.A488V	NM_007368	NP_031394	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		15	1594	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	488			Ras-GAP.		A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	ENST00000334062.7	37	c.1463C>T	CCDS32016.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951173	0.73787	.	.	ENSG00000185989	ENST00000334062;ENST00000389544	T;T	0.79141	-1.24;-1.24	4.85	4.85	0.62838	Ras GTPase-activating protein, conserved site (1);Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	D	0.87075	0.6087	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87363	0.2345	9	.	.	.	.	16.7473	0.85476	0.0:0.0:1.0:0.0	.	488	Q14644	RASA3_HUMAN	V	488;456	ENSP00000335029:A488V;ENSP00000374195:A456V	.	A	-	2	0	RASA3	113796769	1.000000	0.71417	0.544000	0.28141	0.269000	0.26545	4.470000	0.60175	2.228000	0.72767	0.491000	0.48974	GCG		0.617	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2		NM_007368		18	6	0	0	0	0.003954	0	18	6		
OR4Q3	441669	broad.mit.edu	37	14	20215775	20215775	+	Silent	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:20215775T>C	ENST00000331723.1	+	1	189	c.189T>C	c.(187-189)ttT>ttC	p.F63F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTATTATTTTTTAGGTCATC	0.413																																						uc010tkt.1		NaN																	0				breast(3)	3						c.(187-189)TTT>TTC		olfactory receptor, family 4, subfamily Q,							164.0	167.0	166.0					14																	20215775		2203	4300	6503	SO:0001819	synonymous_variant	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20215775T>C	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.189T>C	14.37:g.20215775T>C							p.F63F	NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	189	+	all_cancers(95;0.00108)		63			Helical; Name=2; (Potential).		Q6IEX4	Silent	SNP	ENST00000331723.1	37	c.189T>C	CCDS32020.1																																																																																				0.413	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2				59	143	0	0	0	0.00361	0	59	143		
ACIN1	22985	broad.mit.edu	37	14	23533347	23533347	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:23533347G>T	ENST00000262710.1	-	12	3063	c.2736C>A	c.(2734-2736)gaC>gaA	p.D912E	ACIN1_ENST00000357481.2_Missense_Mutation_p.D154E|ACIN1_ENST00000557515.1_Missense_Mutation_p.D153E|ACIN1_ENST00000605057.1_Missense_Mutation_p.D854E|ACIN1_ENST00000338631.6_Missense_Mutation_p.D185E|ACIN1_ENST00000457657.1_Missense_Mutation_p.D872E|ACIN1_ENST00000555053.1_Missense_Mutation_p.D899E|ACIN1_ENST00000397341.3_Missense_Mutation_p.D154E	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	912					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCAGCCCCTTGTCATGGGTCC	0.562																																						uc001wit.3		NaN																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(2734-2736)GAC>GAA		apoptotic chromatin condensation inducer 1							122.0	108.0	113.0					14																	23533347		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23533347G>T	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.2736C>A	14.37:g.23533347G>T	ENSP00000262710:p.Asp912Glu					ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.D154E|ACIN1_uc001wiq.3_Missense_Mutation_p.D154E|ACIN1_uc001wir.3_Missense_Mutation_p.D185E|ACIN1_uc001wis.3_Missense_Mutation_p.D593E|ACIN1_uc010akg.2_Missense_Mutation_p.D899E	p.D912E	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	12	3064	-	all_cancers(95;1.36e-05)		912					B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.2736C>A	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132600	0.77662	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053;ENST00000555566	T;T;T;T;T;T;T	0.21734	3.46;3.46;3.46;2.08;2.1;3.46;1.99	4.92	4.92	0.64577	.	0.000000	0.43579	D	0.000554	T	0.30916	0.0780	L	0.53249	1.67	0.54753	D	0.999982	D;D;D;D;D	0.76494	0.994;0.999;0.994;0.998;0.999	D;D;D;D;D	0.70487	0.96;0.969;0.951;0.936;0.944	T	0.22243	-1.0222	10	0.06891	T	0.86	-14.957	7.1928	0.25834	0.0897:0.1735:0.7368:0.0	.	899;912;872;185;154	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	E	153;185;154;912;872;154;899;142	ENSP00000451138:D153E;ENSP00000345541:D185E;ENSP00000350073:D154E;ENSP00000262710:D912E;ENSP00000405677:D872E;ENSP00000380502:D154E;ENSP00000451328:D899E	ENSP00000262710:D912E	D	-	3	2	ACIN1	22603187	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.107000	0.41844	2.712000	0.92718	0.563000	0.77884	GAC		0.562	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3		NM_014977		11	170	1	0	1.58986e-06	0.008291	1.6631e-06	11	170		
EFS	10278	broad.mit.edu	37	14	23829056	23829056	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:23829056C>T	ENST00000216733.3	-	4	1238	c.631G>A	c.(631-633)Gag>Aag	p.E211K	EFS_ENST00000429593.2_Intron|EFS_ENST00000351354.3_Missense_Mutation_p.E118K|RP11-124D2.3_ENST00000554010.1_RNA	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	211	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGCCCCGGCTCCCGGCCTCCT	0.617																																						uc001wjo.2		NaN																	0				large_intestine(1)	1						c.(631-633)GAG>AAG		embryonal Fyn-associated substrate isoform 1							33.0	43.0	39.0					14																	23829056		2148	4178	6326	SO:0001583	missense	10278				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23829056C>T	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"""Cas scaffolding proteins"""	16898	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 3"""	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.631G>A	14.37:g.23829056C>T	ENSP00000216733:p.Glu211Lys					EFS_uc001wjp.2_Missense_Mutation_p.E118K|EFS_uc010tnm.1_Intron	p.E211K	NM_005864	NP_005855	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	4	1239	-	all_cancers(95;7.12e-06)		211			Pro-rich.		B2RAJ7|B4DJ56|E9PGU2|O43282	Missense_Mutation	SNP	ENST00000216733.3	37	c.631G>A	CCDS9595.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195320	0.58017	.	.	ENSG00000100842	ENST00000216733;ENST00000351354	T;T	0.56941	0.43;0.83	5.08	5.08	0.68730	.	0.850395	0.10591	N	0.656746	T	0.67126	0.2860	M	0.63428	1.95	0.80722	D	1	D;D	0.69078	0.993;0.997	P;D	0.73380	0.879;0.98	T	0.57499	-0.7801	10	0.06757	T	0.87	-12.6649	15.4895	0.75593	0.0:1.0:0.0:0.0	.	118;211	O43281-2;O43281	.;EFS_HUMAN	K	211;118	ENSP00000216733:E211K;ENSP00000340607:E118K	ENSP00000216733:E211K	E	-	1	0	EFS	22898896	0.911000	0.30947	0.951000	0.38953	0.122000	0.20287	2.230000	0.42999	2.653000	0.90120	0.563000	0.77884	GAG		0.617	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2				31	137	0	0	0	0.010818	0	31	137		
JPH4	84502	broad.mit.edu	37	14	24045009	24045009	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:24045009G>C	ENST00000397118.3	-	4	1938	c.1036C>G	c.(1036-1038)Ctc>Gtc	p.L346V	JPH4_ENST00000356300.4_Missense_Mutation_p.L346V|JPH4_ENST00000544177.1_5'Flank	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	346					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		AGAGGCAGGAGACTGCGGACG	0.731																																						uc001wkq.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1036-1038)CTC>GTC		junctophilin 4							5.0	5.0	5.0					14																	24045009		1822	3703	5525	SO:0001583	missense	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24045009G>C	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1036C>G	14.37:g.24045009G>C	ENSP00000380307:p.Leu346Val					JPH4_uc010tnr.1_5'Flank|JPH4_uc001wkr.2_Missense_Mutation_p.L346V|JPH4_uc001wks.2_Missense_Mutation_p.L346V	p.L346V	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	4	1954	-	all_cancers(95;0.000251)		346			Cytoplasmic (Potential).|MORN 8.		D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	ENST00000397118.3	37	c.1036C>G	CCDS9603.1	.	.	.	.	.	.	.	.	.	.	.	12.29	1.895073	0.33442	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407	T;T	0.60672	0.17;0.17	4.07	4.07	0.47477	.	.	.	.	.	T	0.49047	0.1534	L	0.35593	1.075	0.28958	N	0.890006	P;P	0.47841	0.901;0.767	B;B	0.41571	0.36;0.258	T	0.52653	-0.8547	9	0.87932	D	0	.	13.7916	0.63146	0.0:0.0:1.0:0.0	.	346;346	A8K396;Q96JJ6	.;JPH4_HUMAN	V	346;346;346;347	ENSP00000348648:L346V;ENSP00000380307:L346V	ENSP00000267407:L347V	L	-	1	0	JPH4	23114849	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	3.035000	0.49759	2.083000	0.62718	0.655000	0.94253	CTC		0.731	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1		NM_032452		5	4	0	0	0	0.001984	0	5	4		
PNN	5411	broad.mit.edu	37	14	39646875	39646875	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:39646875G>A	ENST00000216832.4	+	5	473	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	PNN_ENST00000556530.1_3'UTR|PNN_ENST00000553331.1_Intron|RP11-407N17.4_ENST00000556537.1_lincRNA	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	136	Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AAATATGGATGAAAAGGGAAA	0.403																																						uc001wuw.3		NaN																	0				ovary(1)	1						c.(406-408)GAA>AAA		pinin, desmosome associated protein							91.0	95.0	94.0					14																	39646875		2193	4297	6490	SO:0001583	missense	5411				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity	g.chr14:39646875G>A	U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.406G>A	14.37:g.39646875G>A	ENSP00000216832:p.Glu136Lys						p.E136K	NM_002687	NP_002678	Q9H307	PININ_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)	5	503	+	Hepatocellular(127;0.213)		136			Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	ENST00000216832.4	37	c.406G>A	CCDS9671.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885412	0.91814	.	.	ENSG00000100941	ENST00000216832	T	0.37411	1.2	5.45	5.45	0.79879	Pinin/SDK/MemA protein (1);Pinin/SDK (1);	0.000000	0.85682	D	0.000000	T	0.50973	0.1647	M	0.78637	2.42	0.80722	D	1	P	0.36086	0.536	B	0.42738	0.396	T	0.51474	-0.8701	10	0.46703	T	0.11	-12.3367	19.6558	0.95837	0.0:0.0:1.0:0.0	.	136	Q9H307	PININ_HUMAN	K	136	ENSP00000216832:E136K	ENSP00000216832:E136K	E	+	1	0	PNN	38716626	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.789000	0.99068	2.719000	0.93026	0.655000	0.94253	GAA		0.403	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2		NM_002687		57	134	0	0	0	0.00361	0	57	134		
MDGA2	161357	broad.mit.edu	37	14	47504376	47504376	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:47504376C>G	ENST00000399232.2	-	8	1814	c.1450G>C	c.(1450-1452)Gtt>Ctt	p.V484L	MDGA2_ENST00000426342.1_Missense_Mutation_p.V255L|MDGA2_ENST00000357362.3_Missense_Mutation_p.V255L|MDGA2_ENST00000439988.3_Missense_Mutation_p.V553L	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	484	Ig-like 5.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GGCATTGCAACTTCTTTATCC	0.418																																						uc001wwj.3		NaN																	0				ovary(4)|large_intestine(1)|pancreas(1)	6						c.(1450-1452)GTT>CTT		MAM domain containing 1 isoform 1							265.0	240.0	248.0					14																	47504376		1961	4173	6134	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47504376C>G	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1450G>C	14.37:g.47504376C>G	ENSP00000382178:p.Val484Leu					MDGA2_uc001wwi.3_Missense_Mutation_p.V255L|MDGA2_uc010ani.2_Missense_Mutation_p.V44L	p.V484L	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			8	1646	-			484			Ig-like 5.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1450G>C		.	.	.	.	.	.	.	.	.	.	C	16.62	3.173310	0.57584	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.46145	U	0.000311	T	0.40791	0.1131	N	0.04655	-0.195	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.14023	0.006;0.01	T	0.34204	-0.9838	10	0.12103	T	0.63	.	18.0085	0.89216	0.0:1.0:0.0:0.0	.	255;484	F6W3S7;Q7Z553	.;MDGA2_HUMAN	L	484;255;553;255	ENSP00000400011:V484L;ENSP00000405456:V255L;ENSP00000382178:V553L;ENSP00000349925:V255L	ENSP00000349925:V255L	V	-	1	0	MDGA2	46574126	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	4.885000	0.63142	2.608000	0.88229	0.491000	0.48974	GTT		0.418	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5		NM_182830		57	108	0	0	0	0.00361	0	57	108		
NIN	51199	broad.mit.edu	37	14	51288736	51288736	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:51288736G>C	ENST00000382041.3	-	3	229	c.39C>G	c.(37-39)ctC>ctG	p.L13L	NIN_ENST00000382043.4_Silent_p.L13L|NIN_ENST00000245441.5_Silent_p.L13L|NIN_ENST00000453196.1_Silent_p.L13L|RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000389868.3_Silent_p.L13L|NIN_ENST00000324330.9_Silent_p.L13L|NIN_ENST00000530997.2_Silent_p.L13L	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	13	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ACAGCTCCTTGAGTCGGGCCT	0.587			T	PDGFRB	MPD																																	uc001wym.2		NaN		Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(37-39)CTC>CTG		ninein isoform 5							227.0	205.0	212.0					14																	51288736		2203	4300	6503	SO:0001819	synonymous_variant	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51288736G>C	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.39C>G	14.37:g.51288736G>C						NIN_uc001wyi.2_Silent_p.L13L|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Silent_p.L13L|NIN_uc010tqp.1_Intron|NIN_uc001wyo.2_Silent_p.L13L|NIN_uc001wyp.1_Intron	p.L13L	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			3	230	-	all_epithelial(31;0.00244)|Breast(41;0.127)		13			EF-hand 1.		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	37	c.39C>G	CCDS32079.1																																																																																				0.587	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2		NM_182946		147	301	0	0	0	0.00361	0	147	301		
DAAM1	23002	broad.mit.edu	37	14	59791171	59791171	+	Splice_Site	SNP	A	A	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:59791171A>T	ENST00000395125.1	+	7	1011	c.988A>T	c.(988-990)Agg>Tgg	p.R330W	DAAM1_ENST00000360909.3_Splice_Site_p.R330W|DAAM1_ENST00000351081.1_Splice_Site_p.R330W	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	330	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AACATTAGATAGGTAAGTCAG	0.378																																						uc001xdz.1		NaN																	0				ovary(1)	1						c.(988-990)AGG>TGG		dishevelled-associated activator of							72.0	70.0	71.0					14																	59791171		2203	4300	6503	SO:0001630	splice_region_variant	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59791171A>T	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.989+1A>T	14.37:g.59791171A>T						DAAM1_uc001xea.1_Missense_Mutation_p.R330W|DAAM1_uc001xeb.1_Missense_Mutation_p.R330W	p.R330W	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	8	1113	+			330			GBD/FH3.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.988A>T	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.990034	0.54041	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	D;D;D	0.83992	-1.79;-1.79;-1.79	5.33	2.86	0.33363	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89234	0.6657	M	0.80183	2.485	0.80722	D	1	D;D	0.60575	0.985;0.988	P;P	0.59948	0.713;0.866	D	0.89403	0.3697	10	0.66056	D	0.02	.	13.6214	0.62138	0.479:0.521:0.0:0.0	.	330;330	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	W	330	ENSP00000354162:R330W;ENSP00000247170:R330W;ENSP00000378557:R330W	ENSP00000247170:R330W	R	+	1	2	DAAM1	58860924	0.998000	0.40836	1.000000	0.80357	0.969000	0.65631	1.684000	0.37649	0.421000	0.25980	0.533000	0.62120	AGG		0.378	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2		NM_014992	Missense_Mutation	7	27	0	0	0	0.001984	0	7	27		
VRTN	55237	broad.mit.edu	37	14	74825233	74825233	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:74825233G>T	ENST00000256362.4	+	2	1988	c.1747G>T	c.(1747-1749)Gat>Tat	p.D583Y		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	583					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GGCTGGCAGGGATGTGACAGC	0.652																																						uc001xpw.3		NaN																	0					0						c.(1747-1749)GAT>TAT		hypothetical protein LOC55237							37.0	45.0	42.0					14																	74825233		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74825233G>T	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1747G>T	14.37:g.74825233G>T	ENSP00000256362:p.Asp583Tyr						p.D583Y	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00147)	2	1938	+			583					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.1747G>T	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	G	9.133	1.011992	0.19277	.	.	ENSG00000133980	ENST00000256362	T	0.44881	0.91	3.99	-1.57	0.08506	.	2.290680	0.01750	U	0.029894	T	0.25044	0.0608	N	0.14661	0.345	0.09310	N	1	B	0.26318	0.146	B	0.21917	0.037	T	0.16541	-1.0399	10	0.56958	D	0.05	0.1832	3.3508	0.07151	0.4264:0.0:0.3829:0.1908	.	583	Q9H8Y1	VRTN_HUMAN	Y	583	ENSP00000256362:D583Y	ENSP00000256362:D583Y	D	+	1	0	VRTN	73894986	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.087000	0.14958	-0.389000	0.07786	-0.339000	0.08088	GAT		0.652	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1		NM_018228		11	108	1	0	0.00829132	0.008291	0.0084463	11	108		
UNC79	57578	broad.mit.edu	37	14	94004479	94004479	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:94004479C>T	ENST00000393151.2	+	12	1267	c.1267C>T	c.(1267-1269)Cac>Tac	p.H423Y	UNC79_ENST00000555664.1_Missense_Mutation_p.H423Y|UNC79_ENST00000256339.4_Missense_Mutation_p.H246Y|UNC79_ENST00000553484.1_Missense_Mutation_p.H423Y			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	423					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGCGGAGACTCACCTCTATCA	0.592																																						uc001ybv.1		NaN																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(736-738)CAC>TAC		hypothetical protein LOC57578							52.0	49.0	50.0					14																	94004479		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94004479C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1267C>T	14.37:g.94004479C>T	ENSP00000376858:p.His423Tyr					KIAA1409_uc001ybs.1_Missense_Mutation_p.H246Y|KIAA1409_uc001ybu.1_Missense_Mutation_p.H184Y	p.H246Y	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	9	819	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	423					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.736C>T		.	.	.	.	.	.	.	.	.	.	C	22.9	4.347695	0.82022	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.31769	1.5;1.49;1.48;1.49	5.6	4.71	0.59529	.	0.054807	0.64402	N	0.000001	T	0.51805	0.1696	M	0.61703	1.905	0.51767	D	0.999933	D;P	0.53745	0.962;0.908	D;D	0.66716	0.946;0.922	T	0.55792	-0.8085	10	0.87932	D	0	-19.7991	14.6726	0.68956	0.0:0.9299:0.0:0.0701	.	423;423	C9JQL1;Q9P2D8	.;UNC79_HUMAN	Y	246;423;423;423;423	ENSP00000256339:H246Y;ENSP00000450868:H423Y;ENSP00000451360:H423Y;ENSP00000376858:H423Y	ENSP00000256339:H246Y	H	+	1	0	KIAA1409	93074232	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.528000	0.81941	1.483000	0.48342	0.561000	0.74099	CAC		0.592	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1		XM_028395		10	59	0	0	0	0.006214	0	10	59		
RYR3	6263	broad.mit.edu	37	15	33962623	33962623	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:33962623T>G	ENST00000389232.4	+	38	5796	c.5726T>G	c.(5725-5727)gTt>gGt	p.V1909G	RYR3_ENST00000415757.3_Missense_Mutation_p.V1909G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1909	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.V1909G(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGCTAGGGGTTCCTTTggaa	0.473																																						uc001zhi.2		NaN																	1	Substitution - Missense(1)		kidney(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(5725-5727)GTT>GGT		ryanodine receptor 3							29.0	34.0	33.0					15																	33962623		1904	4132	6036	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33962623T>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5726T>G	15.37:g.33962623T>G	ENSP00000373884:p.Val1909Gly					RYR3_uc010bar.2_Missense_Mutation_p.V1909G	p.V1909G	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	38	5796	+		all_lung(180;7.18e-09)	1909			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.5726T>G	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.722948	0.48728	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.68025	-0.3;-0.25	5.99	5.99	0.97316	.	0.238660	0.33610	N	0.004737	T	0.60418	0.2267	L	0.43923	1.385	0.58432	D	0.999993	B;B	0.29766	0.256;0.0	B;B	0.24848	0.056;0.0	T	0.61667	-0.7016	10	0.72032	D	0.01	.	15.6603	0.77182	0.0:0.0:0.0:1.0	.	1909;1909	Q15413-2;Q15413	.;RYR3_HUMAN	G	1909	ENSP00000373884:V1909G;ENSP00000399610:V1909G	ENSP00000354735:V1909G	V	+	2	0	RYR3	31749915	1.000000	0.71417	0.995000	0.50966	0.576000	0.36127	5.995000	0.70631	2.284000	0.76573	0.528000	0.53228	GTT		0.473	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1				16	24	0	0	0	0.010818	0	16	24		
RYR3	6263	broad.mit.edu	37	15	34080596	34080596	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:34080596C>T	ENST00000389232.4	+	67	9837	c.9767C>T	c.(9766-9768)gCg>gTg	p.A3256V	RYR3_ENST00000415757.3_Missense_Mutation_p.A3256V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3256					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACGAGTTCGCGGTCCTCTGC	0.567																																						uc001zhi.2		NaN																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(9766-9768)GCG>GTG		ryanodine receptor 3							76.0	81.0	79.0					15																	34080596		2029	4197	6226	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34080596C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9767C>T	15.37:g.34080596C>T	ENSP00000373884:p.Ala3256Val					RYR3_uc010bar.2_Missense_Mutation_p.A3256V	p.A3256V	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	67	9837	+		all_lung(180;7.18e-09)	3256					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.9767C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922995	0.52653	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.65732	-0.17;-0.17	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.74359	0.3706	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.999;0.976	D;P	0.65987	0.94;0.475	T	0.73845	-0.3854	10	0.38643	T	0.18	.	17.529	0.87808	0.0:1.0:0.0:0.0	.	3256;3256	Q15413-2;Q15413	.;RYR3_HUMAN	V	3256	ENSP00000373884:A3256V;ENSP00000399610:A3256V	ENSP00000354735:A3256V	A	+	2	0	RYR3	31867888	1.000000	0.71417	0.618000	0.29105	0.331000	0.28603	7.609000	0.82925	2.447000	0.82792	0.655000	0.94253	GCG		0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1				15	86	0	0	0	0.00245	0	15	86		
RPUSD2	27079	broad.mit.edu	37	15	40861663	40861663	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:40861663G>T	ENST00000315616.7	+	1	165	c.127G>T	c.(127-129)Gtt>Ttt	p.V43F	RPUSD2_ENST00000559271.1_Missense_Mutation_p.V43F	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	43					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		GTCTACCCAGGTTGGGACAGA	0.627																																						uc001zmd.1		NaN																	0				skin(1)	1						c.(127-129)GTT>TTT		RNA pseudouridylate synthase domain containing							45.0	40.0	41.0					15																	40861663		2203	4300	6503	SO:0001583	missense	27079				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	g.chr15:40861663G>T	AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133		"""RNA pseudouridylate synthase domain containing"""	24180	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 19"""	C15orf19		12477932	Standard	NM_001286407		Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000315616.7:c.127G>T	15.37:g.40861663G>T	ENSP00000323288:p.Val43Phe						p.V43F	NM_152260	NP_689473	Q8IZ73	RUSD2_HUMAN		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)	1	127	+		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	43					B4DDD1|Q7L989|Q92939|Q96IA7|Q96N50	Missense_Mutation	SNP	ENST00000315616.7	37	c.127G>T	CCDS10061.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415753	0.42817	.	.	ENSG00000166133	ENST00000315616;ENST00000417769	T	0.33438	1.41	5.22	3.35	0.38373	.	1.142480	0.06314	N	0.703219	T	0.15912	0.0383	N	0.08118	0	0.09310	N	1	B	0.28128	0.201	B	0.21360	0.034	T	0.21552	-1.0242	10	0.66056	D	0.02	-3.3592	3.8924	0.09125	0.0867:0.1638:0.5799:0.1696	.	43	Q8IZ73	RUSD2_HUMAN	F	43	ENSP00000323288:V43F	ENSP00000323288:V43F	V	+	1	0	RPUSD2	38648955	0.004000	0.15560	0.001000	0.08648	0.002000	0.02628	1.227000	0.32576	0.773000	0.33404	-0.172000	0.13284	GTT		0.627	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252308.2		NM_152260		25	40	1	0	1.10923e-09	0.00278	1.20906e-09	25	40		
CASC5	57082	broad.mit.edu	37	15	40913273	40913273	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:40913273A>T	ENST00000346991.5	+	11	1279	c.889A>T	c.(889-891)Act>Tct	p.T297S	CASC5_ENST00000399668.2_Missense_Mutation_p.T271S|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	297	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CAGTAATATTACTAGGCTCTT	0.373																																						uc010bbs.1		NaN																	0				breast(3)|central_nervous_system(1)|skin(1)	5						c.(889-891)ACT>TCT		cancer susceptibility candidate 5 isoform 1							52.0	50.0	51.0					15																	40913273		1835	4085	5920	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40913273A>T	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.889A>T	15.37:g.40913273A>T	ENSP00000335463:p.Thr297Ser					CASC5_uc010ucq.1_Missense_Mutation_p.T121S|CASC5_uc001zme.2_Missense_Mutation_p.T271S|CASC5_uc010bbt.1_Missense_Mutation_p.T271S	p.T297S	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	1050	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	297			Interaction with BUB1 and BUB1B.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.889A>T	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.677445	0.47886	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.19394	2.15;2.18	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000001	T	0.47002	0.1422	M	0.71581	2.175	0.32445	N	0.546227	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.57585	-0.7786	10	0.45353	T	0.12	.	16.3593	0.83251	1.0:0.0:0.0:0.0	.	271;297;271	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	S	297;271;271	ENSP00000335463:T297S;ENSP00000382576:T271S	ENSP00000260369:T271S	T	+	1	0	CASC5	38700565	1.000000	0.71417	0.929000	0.37066	0.058000	0.15608	6.119000	0.71590	2.267000	0.75376	0.383000	0.25322	ACT		0.373	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2		NM_144508		4	26	0	0	0	0.009096	0	4	26		
MGA	23269	broad.mit.edu	37	15	42003201	42003201	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:42003201C>T	ENST00000570161.1	+	7	2738	c.2738C>T	c.(2737-2739)tCa>tTa	p.S913L	MGA_ENST00000389936.4_Missense_Mutation_p.S913L|MGA_ENST00000566586.1_Missense_Mutation_p.S913L|MGA_ENST00000219905.7_Missense_Mutation_p.S913L|MGA_ENST00000545763.1_Missense_Mutation_p.S913L			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CGAACTAAATCATCTTATAAA	0.403																																						uc001zog.1		NaN																	0				ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(2737-2739)TCA>TTA		MAX-interacting protein isoform 2							140.0	139.0	139.0					15																	42003201		1861	4099	5960	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42003201C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2738C>T	15.37:g.42003201C>T	ENSP00000457035:p.Ser913Leu					MGA_uc010ucy.1_Missense_Mutation_p.S913L|MGA_uc010ucz.1_Missense_Mutation_p.S913L	p.S913L	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	8	2829	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	913					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.2738C>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450442	0.43531	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.18810	2.19;2.19;2.19	6.08	6.08	0.98989	.	1.218310	0.05955	N	0.639551	T	0.26702	0.0653	L	0.27053	0.805	0.27192	N	0.960391	D;P	0.53885	0.963;0.533	P;B	0.47645	0.553;0.172	T	0.40887	-0.9539	10	0.40728	T	0.16	.	16.0688	0.80909	0.0:0.8668:0.1332:0.0	.	913;913	F5H7K2;E7ENI0	.;.	L	913	ENSP00000219905:S913L;ENSP00000374586:S913L;ENSP00000442467:S913L	ENSP00000219905:S913L	S	+	2	0	MGA	39790493	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	6.136000	0.71703	2.894000	0.99253	0.655000	0.94253	TCA		0.403	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1		NM_001164273.1		38	101	0	0	0	0.004878	0	38	101		
SPG11	80208	broad.mit.edu	37	15	44951440	44951440	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:44951440G>A	ENST00000261866.7	-	3	520	c.504C>T	c.(502-504)atC>atT	p.I168I	SPG11_ENST00000535302.2_Silent_p.I168I|SPG11_ENST00000558319.1_Silent_p.I168I|SPG11_ENST00000559193.1_Silent_p.I168I|SPG11_ENST00000427534.2_Silent_p.I168I	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	168					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CACATTTGTTGATGAACAGTA	0.358																																						uc001ztx.2		NaN																	0				ovary(4)|skin(1)	5						c.(502-504)ATC>ATT		spatacsin isoform 1							100.0	99.0	99.0					15																	44951440		2198	4298	6496	SO:0001819	synonymous_variant	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44951440G>A		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.504C>T	15.37:g.44951440G>A						SPG11_uc010ueh.1_Silent_p.I168I|SPG11_uc010uei.1_Silent_p.I168I|SPG11_uc001zua.1_Silent_p.I168I	p.I168I	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	3	535	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	168			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	c.504C>T	CCDS10112.1																																																																																				0.358	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1				16	53	0	0	0	0.00499	0	16	53		
SLC27A2	11001	broad.mit.edu	37	15	50526106	50526106	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:50526106G>C	ENST00000267842.5	+	9	1829	c.1597G>C	c.(1597-1599)Gaa>Caa	p.E533Q	SLC27A2_ENST00000380902.4_Missense_Mutation_p.E480Q|SLC27A2_ENST00000544960.1_Missense_Mutation_p.E298Q	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	533					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CAAAATGAAAGAAAACCATGA	0.373																																						uc001zxw.2		NaN																	0				ovary(1)|skin(1)	2						c.(1597-1599)GAA>CAA		solute carrier family 27 (fatty acid							101.0	96.0	97.0					15																	50526106		2196	4295	6491	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50526106G>C	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.1597G>C	15.37:g.50526106G>C	ENSP00000267842:p.Glu533Gln					SLC27A2_uc010bes.2_Missense_Mutation_p.E480Q|SLC27A2_uc001zxx.2_Missense_Mutation_p.E298Q	p.E533Q	NM_003645	NP_003636	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	9	1829	+		all_lung(180;0.00177)	533			Cytoplasmic (Potential).		A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.1597G>C	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595564	0.28445	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.51071	0.72;0.72;0.72	5.93	4.97	0.65823	.	0.250174	0.45361	D	0.000366	T	0.43456	0.1248	L	0.46819	1.47	0.47994	D	0.999562	B;B	0.22909	0.007;0.077	B;B	0.25884	0.007;0.064	T	0.33854	-0.9852	10	0.49607	T	0.09	.	14.3263	0.66523	0.0:0.1492:0.8508:0.0	.	480;533	Q6PF09;O14975	.;S27A2_HUMAN	Q	480;533;298	ENSP00000370289:E480Q;ENSP00000267842:E533Q;ENSP00000444549:E298Q	ENSP00000267842:E533Q	E	+	1	0	SLC27A2	48313398	1.000000	0.71417	0.937000	0.37676	0.122000	0.20287	2.362000	0.44169	2.826000	0.97356	0.655000	0.94253	GAA		0.373	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2		NM_003645		7	40	0	0	0	0.001984	0	7	40		
HERC1	8925	broad.mit.edu	37	15	64017588	64017588	+	Silent	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:64017588A>C	ENST00000443617.2	-	18	3558	c.3471T>G	c.(3469-3471)ctT>ctG	p.L1157L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1157					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGGAGCCCTGAAGCATGCCAC	0.512																																						uc002amp.2		NaN																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(3469-3471)CTT>CTG		hect domain and RCC1-like domain 1							105.0	104.0	105.0					15																	64017588		2049	4188	6237	SO:0001819	synonymous_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64017588A>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.3471T>G	15.37:g.64017588A>C						HERC1_uc010uil.1_Intron	p.L1157L	NM_003922	NP_003913	Q15751	HERC1_HUMAN			18	3619	-			1157					Q8IW65	Silent	SNP	ENST00000443617.2	37	c.3471T>G	CCDS45277.1																																																																																				0.512	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1		NM_003922		19	110	0	0	0	0.006122	0	19	110		
EDC3	80153	broad.mit.edu	37	15	74963915	74963915	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:74963915T>G	ENST00000315127.4	-	3	546	c.365A>C	c.(364-366)gAt>gCt	p.D122A	EDC3_ENST00000568176.1_Missense_Mutation_p.D122A|EDC3_ENST00000426797.3_Missense_Mutation_p.D122A	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	122					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|membrane (GO:0016020)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GCTCTTCACATCTGTCCTCTT	0.522																																						uc002ayn.2		NaN																	0				ovary(1)	1						c.(364-366)GAT>GCT		enhancer of mRNA decapping 3							135.0	117.0	123.0					15																	74963915		2197	4296	6493	SO:0001583	missense	80153				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr15:74963915T>G	BC011534	CCDS10267.1	15q24.1	2013-05-02	2013-05-02	2006-07-07	ENSG00000179151	ENSG00000179151			26114	protein-coding gene	gene with protein product		609842	"""yjeF domain containing (E.coli)"", ""LSM16 homolog (EDC3, S. cerevisiae)"", ""enhancer of mRNA decapping 3 homolog (S. cerevisiae)"""	YJDC, LSM16		15225602, 17533573, 22483619	Standard	NM_025083		Approved	FLJ21128, hYjeF_N2-15q23, YJEFN2	uc002aym.3	Q96F86	OTTHUMG00000142815	ENST00000315127.4:c.365A>C	15.37:g.74963915T>G	ENSP00000320503:p.Asp122Ala					EDC3_uc002ayo.2_Missense_Mutation_p.D122A|EDC3_uc002aym.2_Missense_Mutation_p.D122A	p.D122A	NM_001142443	NP_001135915	Q96F86	EDC3_HUMAN			6	853	-			122					B3KPH0|D3DW61|Q9H797	Missense_Mutation	SNP	ENST00000315127.4	37	c.365A>C	CCDS10267.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.972535	0.53614	.	.	ENSG00000179151	ENST00000315127;ENST00000426797	.	.	.	5.45	5.45	0.79879	.	0.054557	0.64402	D	0.000001	T	0.43389	0.1245	N	0.24115	0.695	0.58432	D	0.999998	B	0.28713	0.22	B	0.19148	0.024	T	0.39187	-0.9626	9	0.48119	T	0.1	-15.4796	14.6927	0.69098	0.0:0.0:0.0:1.0	.	122	Q96F86	EDC3_HUMAN	A	122	.	ENSP00000320503:D122A	D	-	2	0	EDC3	72750968	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	6.928000	0.75846	2.071000	0.62044	0.533000	0.62120	GAT		0.522	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286399.1		NM_025083		9	146	0	0	0	0.004482	0	9	146		
EFTUD1	79631	broad.mit.edu	37	15	82443993	82443993	+	Silent	SNP	G	G	A	rs199710903		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:82443993G>A	ENST00000268206.7	-	18	2970	c.2802C>T	c.(2800-2802)tgC>tgT	p.C934C	EFTUD1_ENST00000359445.3_Silent_p.C883C	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	934					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						AGGCCTCAGAGCAGCCATCTT	0.458																																						uc002bgt.1		NaN																	0				ovary(1)	1						c.(2800-2802)TGC>TGT		elongation factor Tu GTP binding domain							139.0	139.0	139.0					15																	82443993		1974	4168	6142	SO:0001819	synonymous_variant	79631				mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82443993G>A	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.2802C>T	15.37:g.82443993G>A						EFTUD1_uc002bgs.1_Silent_p.C305C|EFTUD1_uc002bgu.1_Silent_p.C883C	p.C934C	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN			18	2971	-			934					A6NKY5|B7Z6I0|Q9H8Z6	Silent	SNP	ENST00000268206.7	37	c.2802C>T	CCDS42071.1																																																																																				0.458	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1		NM_024580		14	145	0	0	0	0.001855	0	14	145		
ADAMTSL3	57188	broad.mit.edu	37	15	84581959	84581959	+	Nonsense_Mutation	SNP	G	G	T	rs372094918		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr15:84581959G>T	ENST00000286744.5	+	16	2040	c.1816G>T	c.(1816-1818)Gag>Tag	p.E606*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.E606*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	606	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGAGCTGCCCGAGGAAGAGTG	0.637																																						uc002bjz.3		NaN																	0				ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(1816-1818)GAG>TAG		ADAMTS-like 3 precursor							77.0	65.0	69.0					15																	84581959		2203	4300	6503	SO:0001587	stop_gained	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84581959G>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1816G>T	15.37:g.84581959G>T	ENSP00000286744:p.Glu606*					ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.E606*|ADAMTSL3_uc010bmu.1_Nonsense_Mutation_p.E606*	p.E606*	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		16	2040	+			606			TSP type-1 4.		A1A566|A1A567|Q9ULI7	Nonsense_Mutation	SNP	ENST00000286744.5	37	c.1816G>T	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	41	9.031942	0.99042	.	.	ENSG00000156218	ENST00000286744	.	.	.	4.9	4.9	0.64082	.	0.937847	0.08896	N	0.877864	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	18.1118	0.89538	0.0:0.0:1.0:0.0	.	.	.	.	X	606	.	ENSP00000286744:E606X	E	+	1	0	ADAMTSL3	82372963	1.000000	0.71417	0.848000	0.33437	0.888000	0.51559	7.223000	0.78033	2.246000	0.74042	0.563000	0.77884	GAG		0.637	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2		NM_207517		18	66	1	0	9.16793e-09	0.00499	9.83567e-09	18	66		
NPRL3	8131	broad.mit.edu	37	16	162645	162645	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:162645C>T	ENST00000399953.3	-	5	925	c.523G>A	c.(523-525)Gat>Aat	p.D175N	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_5'UTR	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	175					aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)			endometrium(1)|large_intestine(3)|ovary(2)	6						GACACCTCATCCTGGAGCGCC	0.657																																						uc002cfr.2		NaN																	0				ovary(1)	1						c.(523-525)GAT>AAT		conserved gene telomeric to alpha globin cluster							28.0	34.0	32.0					16																	162645		2183	4267	6450	SO:0001583	missense	8131						protein binding	g.chr16:162645C>T		CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148			14124	protein-coding gene	gene with protein product	"""conserved gene telomeric to alpha globin cluster"""	600928	"""chromosome 16 open reading frame 35"""	C16orf35		8575760	Standard	NM_001243247		Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000399953.3:c.523G>A	16.37:g.162645C>T	ENSP00000382834:p.Asp175Asn					NPRL3_uc010uua.1_RNA|NPRL3_uc002cfp.1_RNA|NPRL3_uc002cfq.2_5'UTR|NPRL3_uc010uub.1_Missense_Mutation_p.D150N|NPRL3_uc010uuc.1_Missense_Mutation_p.D97N|NPRL3_uc002cfs.1_Missense_Mutation_p.D150N	p.D175N	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN			6	622	-			175					D3DU40|Q1W6H0|Q4TT56|Q92469	Missense_Mutation	SNP	ENST00000399953.3	37	c.523G>A		.	.	.	.	.	.	.	.	.	.	C	22.5	4.296120	0.81025	.	.	ENSG00000103148	ENST00000399953;ENST00000262313	.	.	.	5.34	5.34	0.76211	.	0.050090	0.85682	D	0.000000	T	0.78792	0.4339	.	.	.	0.80722	D	1	D;D;D;P	0.67145	0.996;0.995;0.977;0.943	D;P;P;P	0.63703	0.917;0.876;0.862;0.808	T	0.80892	-0.1179	8	0.59425	D	0.04	-8.0079	18.0274	0.89273	0.0:1.0:0.0:0.0	.	97;150;150;175	B7Z220;Q4TT55;B7Z6Q0;Q12980	.;.;.;NPRL3_HUMAN	N	175;150	.	ENSP00000262313:D150N	D	-	1	0	NPRL3	102645	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.554000	0.82212	2.500000	0.84329	0.655000	0.94253	GAT		0.657	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001039476		7	19	0	0	0	0.001984	0	7	19		
ATF7IP2	80063	broad.mit.edu	37	16	10566012	10566012	+	Silent	SNP	G	G	A	rs371612637		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:10566012G>A	ENST00000396560.2	+	8	1625	c.1398G>A	c.(1396-1398)ttG>ttA	p.L466L	ATF7IP2_ENST00000543967.1_Silent_p.L10L|ATF7IP2_ENST00000324570.5_Silent_p.L466L|ATF7IP2_ENST00000396559.1_Silent_p.L466L|ATF7IP2_ENST00000356427.2_Silent_p.L466L	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						GTCCTAATTTGACAACTCCAA	0.284																																						uc002czu.2		NaN																	0					0						c.(1396-1398)TTG>TTA		activating transcription factor 7 interacting							81.0	76.0	78.0					16																	10566012		2195	4292	6487	SO:0001819	synonymous_variant	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10566012G>A	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1398G>A	16.37:g.10566012G>A						ATF7IP2_uc002czv.2_Silent_p.L466L|ATF7IP2_uc010uyo.1_Intron|ATF7IP2_uc010uyp.1_Silent_p.L10L|ATF7IP2_uc002czw.2_Silent_p.L466L|ATF7IP2_uc010uyq.1_RNA	p.L466L	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN			8	1625	+			466					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Silent	SNP	ENST00000396560.2	37	c.1398G>A	CCDS10540.1																																																																																				0.284	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1		NM_024997		11	15	0	0	0	0.001368	0	11	15		
XYLT1	64131	broad.mit.edu	37	16	17232337	17232337	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:17232337C>A	ENST00000261381.6	-	8	1723	c.1639G>T	c.(1639-1641)Gac>Tac	p.D547Y	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	547					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGGTTGTTGTCCACCATGGTG	0.597																																						uc002dfa.2		NaN																	0				ovary(4)	4						c.(1639-1641)GAC>TAC		xylosyltransferase I							120.0	95.0	104.0					16																	17232337		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17232337C>A	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1639G>T	16.37:g.17232337C>A	ENSP00000261381:p.Asp547Tyr						p.D547Y	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			8	1724	-			547			Lumenal (Potential).		Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.1639G>T	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595981	0.86953	.	.	ENSG00000103489	ENST00000261381	T	0.11821	2.74	4.73	4.73	0.59995	.	0.043110	0.85682	D	0.000000	T	0.39172	0.1068	M	0.78637	2.42	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.33777	-0.9855	10	0.87932	D	0	-49.9398	16.8762	0.86052	0.0:1.0:0.0:0.0	.	547	Q86Y38	XYLT1_HUMAN	Y	547	ENSP00000261381:D547Y	ENSP00000261381:D547Y	D	-	1	0	XYLT1	17139838	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.561000	0.82288	2.456000	0.83038	0.655000	0.94253	GAC		0.597	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2		NM_022166		11	102	1	0	7.93312e-07	0.00245	8.33054e-07	11	102		
DNAH3	55567	broad.mit.edu	37	16	21133386	21133386	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:21133386G>A	ENST00000261383.3	-	10	1463	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	DNAH3_ENST00000415178.1_Silent_p.I488I|CTC-508F8.1_ENST00000575612.1_RNA	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	488	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTTTGATCATGATTAGCTGAG	0.393																																						uc010vbe.1		NaN																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(1462-1464)ATC>ATT		dynein, axonemal, heavy chain 3							130.0	129.0	130.0					16																	21133386		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21133386G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1464C>T	16.37:g.21133386G>A						DNAH3_uc002die.2_Silent_p.I459I	p.I488I	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	10	1464	-			488			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.1464C>T	CCDS10594.1																																																																																				0.393	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539		31	70	0	0	0	0.008361	0	31	70		
EEF2K	29904	broad.mit.edu	37	16	22237249	22237249	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:22237249G>A	ENST00000263026.5	+	2	673	c.199G>A	c.(199-201)Gag>Aag	p.E67K		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	67					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		AACAAAAAGTGAGCGGTATAG	0.507																																					NSCLC(195;1411 2157 20319 27471 51856)	uc002dki.2		NaN																	0				large_intestine(1)	1						c.(199-201)GAG>AAG		elongation factor-2 kinase							79.0	73.0	75.0					16																	22237249		2197	4300	6497	SO:0001583	missense	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22237249G>A	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.199G>A	16.37:g.22237249G>A	ENSP00000263026:p.Glu67Lys					EEF2K_uc002dkh.2_RNA	p.E67K	NM_013302	NP_037434	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	2	684	+			67					Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	c.199G>A	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	G	8.968	0.972225	0.18736	.	.	ENSG00000103319	ENST00000263026	T	0.08193	3.12	5.79	4.83	0.62350	.	0.443981	0.25991	N	0.027010	T	0.07638	0.0192	L	0.44542	1.39	0.09310	N	1	B	0.20368	0.044	B	0.19148	0.024	T	0.36065	-0.9763	10	0.13108	T	0.6	-11.3256	10.2337	0.43270	0.0701:0.1371:0.7928:0.0	.	67	O00418	EF2K_HUMAN	K	67	ENSP00000263026:E67K	ENSP00000263026:E67K	E	+	1	0	EEF2K	22144750	0.969000	0.33509	0.008000	0.14137	0.169000	0.22640	3.351000	0.52232	1.424000	0.47217	0.650000	0.86243	GAG		0.507	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2		NM_013302		28	66	0	0	0	0.007291	0	28	66		
ZNF629	23361	broad.mit.edu	37	16	30795792	30795792	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:30795792C>G	ENST00000262525.4	-	2	219	c.12G>C	c.(10-12)gaG>gaC	p.E4D		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	4					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			ACAGCGCAGTCTCGGGCTCCA	0.632																																						uc002dzs.1		NaN																	0					0						c.(10-12)GAG>GAC		zinc finger protein 629							18.0	21.0	20.0					16																	30795792		1909	4122	6031	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30795792C>G	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.12G>C	16.37:g.30795792C>G	ENSP00000262525:p.Glu4Asp						p.E4D	NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		2	220	-			4					Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.12G>C	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216650	0.39201	.	.	ENSG00000102870	ENST00000262525	T	0.09445	2.98	4.86	0.674	0.17946	.	0.157221	0.29653	N	0.011552	T	0.04952	0.0133	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43653	-0.9378	10	0.11485	T	0.65	-32.529	5.0976	0.14742	0.0:0.5932:0.1507:0.2561	.	4	Q9UEG4	ZN629_HUMAN	D	4	ENSP00000262525:E4D	ENSP00000262525:E4D	E	-	3	2	ZNF629	30703293	0.000000	0.05858	0.022000	0.16811	0.890000	0.51754	-0.224000	0.09164	-0.020000	0.14032	0.561000	0.74099	GAG		0.632	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1		NM_015309		5	6	0	0	0	0.000602	0	5	6		
ZNF629	23361	broad.mit.edu	37	16	30795800	30795800	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:30795800C>T	ENST00000262525.4	-	2	211	c.4G>A	c.(4-6)Gag>Aag	p.E2K		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	2					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GTCTCGGGCTCCATCCCAGAG	0.632																																						uc002dzs.1		NaN																	0					0						c.(4-6)GAG>AAG		zinc finger protein 629							16.0	19.0	18.0					16																	30795800		1918	4117	6035	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30795800C>T	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.4G>A	16.37:g.30795800C>T	ENSP00000262525:p.Glu2Lys						p.E2K	NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		2	212	-			2					Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.4G>A	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796203	0.90453	.	.	ENSG00000102870	ENST00000262525	T	0.11385	2.78	4.86	4.86	0.63082	.	0.000000	0.43919	D	0.000510	T	0.08179	0.0204	N	0.19112	0.55	0.33522	D	0.592516	B	0.22080	0.064	B	0.20184	0.028	T	0.05750	-1.0866	10	0.72032	D	0.01	-33.2633	11.4472	0.50131	0.0:0.9114:0.0:0.0886	.	2	Q9UEG4	ZN629_HUMAN	K	2	ENSP00000262525:E2K	ENSP00000262525:E2K	E	-	1	0	ZNF629	30703301	0.000000	0.05858	1.000000	0.80357	0.978000	0.69477	0.273000	0.18662	2.420000	0.82092	0.561000	0.74099	GAG		0.632	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1		NM_015309		3	6	0	0	0	0.004672	0	3	6		
ORAI3	93129	broad.mit.edu	37	16	30964944	30964944	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:30964944G>C	ENST00000318663.4	+	2	891	c.667G>C	c.(667-669)Gag>Cag	p.E223Q	AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000566237.1_Missense_Mutation_p.E223Q|ORAI3_ENST00000562699.1_Intron	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	223					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						GTCCCAAGCTGAGCCAGCCTG	0.672											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002eac.2		NaN																	0					0						c.(667-669)GAG>CAG		ORAI calcium release-activated calcium modulator							72.0	87.0	82.0					16																	30964944		2197	4300	6497	SO:0001583	missense	93129					integral to membrane	protein binding	g.chr16:30964944G>C	BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"""ORAI calcium release-activated calcium modulators"""	28185	protein-coding gene	gene with protein product		610930	"""transmembrane protein 142C"""	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.667G>C	16.37:g.30964944G>C	ENSP00000322249:p.Glu223Gln		OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	821		p.E223Q	NM_152288	NP_689501	Q9BRQ5	ORAI3_HUMAN			2	873	+			223					Q96BI8	Missense_Mutation	SNP	ENST00000318663.4	37	c.667G>C	CCDS10697.1	.	.	.	.	.	.	.	.	.	.	g	0.739	-0.777233	0.02929	.	.	ENSG00000175938	ENST00000318663;ENST00000420438	T	0.31510	1.49	4.59	0.0888	0.14456	.	1.213560	0.05980	N	0.643983	T	0.13072	0.0317	N	0.08118	0	0.09310	N	0.99999	B	0.02656	0.0	B	0.06405	0.002	T	0.24764	-1.0151	10	0.18276	T	0.48	0.4819	1.7176	0.02905	0.1786:0.3035:0.3629:0.155	.	223	Q9BRQ5	ORAI3_HUMAN	Q	223	ENSP00000322249:E223Q	ENSP00000322249:E223Q	E	+	1	0	ORAI3	30872445	0.001000	0.12720	0.002000	0.10522	0.258000	0.26162	0.341000	0.19909	-0.222000	0.09958	-0.187000	0.12897	GAG		0.672	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255545.20		NM_152288		34	373	0	0	0	0.012213	0	34	373		
SETD1A	9739	broad.mit.edu	37	16	30990892	30990892	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:30990892C>A	ENST00000262519.8	+	14	4471	c.3785C>A	c.(3784-3786)aCc>aAc	p.T1262N		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1262					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CTGGCCCTGACCCCTGCCCGG	0.726																																						uc002ead.1		NaN																	0				ovary(2)|skin(1)	3						c.(3784-3786)ACC>AAC		SET domain containing 1A							11.0	16.0	14.0					16																	30990892		2166	4249	6415	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30990892C>A	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3785C>A	16.37:g.30990892C>A	ENSP00000262519:p.Thr1262Asn						p.T1262N	NM_014712	NP_055527	O15047	SET1A_HUMAN			14	4471	+			1262					A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.3785C>A	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.346627	0.24426	.	.	ENSG00000099381	ENST00000262519	D	0.94184	-3.37	4.96	4.96	0.65561	.	0.074991	0.53938	D	0.000042	D	0.90363	0.6984	L	0.27053	0.805	0.40094	D	0.976282	D	0.53885	0.963	P	0.46796	0.527	D	0.91983	0.5596	10	0.62326	D	0.03	.	15.1135	0.72380	0.0:1.0:0.0:0.0	.	1262	O15047	SET1A_HUMAN	N	1262	ENSP00000262519:T1262N	ENSP00000262519:T1262N	T	+	2	0	SETD1A	30898393	0.263000	0.24083	0.928000	0.36995	0.197000	0.23852	1.899000	0.39818	2.292000	0.77174	0.563000	0.77884	ACC		0.726	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2		NM_014712		10	36	1	0	0.00621372	0.006214	0.00635361	10	36		
FUS	2521	broad.mit.edu	37	16	31195261	31195261	+	Nonsense_Mutation	SNP	C	C	A	rs73530286	byFrequency	TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:31195261C>A	ENST00000254108.7	+	4	378	c.273C>A	c.(271-273)taC>taA	p.Y91*	FUS_ENST00000380244.3_Nonsense_Mutation_p.Y90*|RP11-388M20.6_ENST00000564743.1_RNA|FUS_ENST00000568685.1_Nonsense_Mutation_p.Y91*	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	91	Gln/Gly/Ser/Tyr-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		AATCGTCTTACGGGCAGCAGT	0.572			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																	uc002ebf.2		NaN		Dom	yes		16	16p11.2	2521	T	"""fusion, derived from t(12;16) malignant liposarcoma"""			"""M, L"""	DDIT3|ERG|FEV|ATF1|CREB3L2|CREB3L1		liposarcoma|AML|Ewing sarcoma|angiomatoid fibrous histiocytoma|fibromyxoid sarcoma	FUS/DDIT3(623)|FUS/ERG(163)|FUS/CREB3L2(158)|FUS/CREB3L1(6)|FUS/ATF1(4)|FUS/FEV(2)	0				soft_tissue(791)|haematopoietic_and_lymphoid_tissue(153)|bone(12)|breast(2)	958						c.(271-273)TAC>TAA		fusion (involved in t(12;16) in malignant							93.0	94.0	94.0					16																	31195261		2197	4300	6497	SO:0001587	stop_gained	2521				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr16:31195261C>A	AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.273C>A	16.37:g.31195261C>A	ENSP00000254108:p.Tyr91*					FUS_uc002ebe.1_Nonsense_Mutation_p.Y91*|FUS_uc002ebh.2_Nonsense_Mutation_p.Y90*|FUS_uc002ebg.2_5'UTR|FUS_uc002ebi.2_Nonsense_Mutation_p.Y91*|FUS_uc002ebj.2_5'UTR|FUS_uc002ebk.1_5'Flank	p.Y91*	NM_004960	NP_004951	P35637	FUS_HUMAN		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)	4	356	+		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)	91			Gln/Gly/Ser/Tyr-rich.		Q9H4A8	Nonsense_Mutation	SNP	ENST00000254108.7	37	c.273C>A	CCDS10707.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.346253	0.24426	.	.	ENSG00000089280	ENST00000254108;ENST00000394533	.	.	.	6.17	-11.0	0.00169	.	0.213027	0.40640	N	0.001044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5351	12.5257	0.56085	0.0843:0.5201:0.0:0.3957	.	.	.	.	X	91	.	ENSP00000254108:Y91X	Y	+	3	2	FUS	31102762	0.698000	0.27777	0.254000	0.24359	0.100000	0.18952	-0.208000	0.09371	-2.390000	0.00586	-2.290000	0.00267	TAC		0.572	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2		NM_004960		133	199	1	0	4.09656e-53	0.00361	4.80135e-53	133	199		
RSPRY1	89970	broad.mit.edu	37	16	57241994	57241994	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:57241994G>A	ENST00000537866.1	+	3	1248	c.375G>A	c.(373-375)atG>atA	p.M125I	RSPRY1_ENST00000394420.4_Missense_Mutation_p.M125I			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	125						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCTATTCAATGATAACATTAC	0.294																																						uc002elb.2		NaN																	0				ovary(1)	1						c.(373-375)ATG>ATA		ring finger and SPRY domain containing 1							121.0	131.0	127.0					16																	57241994		2198	4299	6497	SO:0001583	missense	89970					extracellular region	zinc ion binding	g.chr16:57241994G>A	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.375G>A	16.37:g.57241994G>A	ENSP00000443176:p.Met125Ile					RSPRY1_uc002elc.2_Missense_Mutation_p.M125I|RSPRY1_uc002eld.2_Missense_Mutation_p.M125I	p.M125I	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN			3	653	+			125					Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	c.375G>A	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901516	0.92035	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	D;D	0.87334	-2.24;-2.24	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.87565	0.6209	M	0.72118	2.19	0.80722	D	1	P	0.46142	0.873	B	0.39904	0.313	D	0.89333	0.3648	10	0.72032	D	0.01	.	19.7815	0.96417	0.0:0.0:1.0:0.0	.	125	Q96DX4	RSPRY_HUMAN	I	125	ENSP00000377942:M125I;ENSP00000443176:M125I	ENSP00000377942:M125I	M	+	3	0	RSPRY1	55799495	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.326000	0.96389	2.746000	0.94184	0.655000	0.94253	ATG		0.294	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1		NM_133368		52	110	0	0	0	0.00361	0	52	110		
GPR56	9289	broad.mit.edu	37	16	57687989	57687989	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:57687989T>C	ENST00000388812.4	+	5	1152	c.712T>C	c.(712-714)Tgg>Cgg	p.W238R	GPR56_ENST00000388813.5_Missense_Mutation_p.W238R|GPR56_ENST00000379694.4_Missense_Mutation_p.W68R|GPR56_ENST00000562631.1_Missense_Mutation_p.W238R|GPR56_ENST00000379696.3_Missense_Mutation_p.W238R|GPR56_ENST00000567835.1_Missense_Mutation_p.W238R|GPR56_ENST00000544297.1_Missense_Mutation_p.W63R|GPR56_ENST00000568908.1_Missense_Mutation_p.W238R|GPR56_ENST00000568909.1_Missense_Mutation_p.W238R|GPR56_ENST00000538815.1_Missense_Mutation_p.W238R|GPR56_ENST00000562558.1_Missense_Mutation_p.W238R|GPR56_ENST00000540164.2_Missense_Mutation_p.W238R|GPR56_ENST00000456916.1_Missense_Mutation_p.W238R			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	238					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CGCCACGGTGTGGAAGCTCCA	0.652																																						uc002emb.2		NaN																	0					0						c.(712-714)TGG>CGG		G protein-coupled receptor 56 isoform a							57.0	59.0	58.0					16																	57687989		2198	4300	6498	SO:0001583	missense	9289				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57687989T>C	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.712T>C	16.37:g.57687989T>C	ENSP00000373464:p.Trp238Arg					GPR56_uc002elz.1_Missense_Mutation_p.W68R|GPR56_uc002ema.1_Missense_Mutation_p.W63R|GPR56_uc002emc.2_Missense_Mutation_p.W238R|GPR56_uc002emf.2_Missense_Mutation_p.W238R|GPR56_uc010vhs.1_Missense_Mutation_p.W238R|GPR56_uc002emd.2_Missense_Mutation_p.W238R|GPR56_uc002eme.2_Missense_Mutation_p.W238R|GPR56_uc010vht.1_Missense_Mutation_p.W243R|GPR56_uc002emg.3_Missense_Mutation_p.W238R|GPR56_uc010vhu.1_Missense_Mutation_p.W63R	p.W238R	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN			6	1004	+			238			Extracellular (Potential).		A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Missense_Mutation	SNP	ENST00000388812.4	37	c.712T>C	CCDS32460.1	.	.	.	.	.	.	.	.	.	.	T	11.57	1.678361	0.29783	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000544297;ENST00000379694;ENST00000379696	T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;1.79;1.21;0.88	5.04	3.93	0.45458	.	0.543113	0.17177	N	0.184039	T	0.57373	0.2049	M	0.63428	1.95	0.29355	N	0.865096	D;D;D;D;D	0.71674	0.998;0.994;0.994;0.998;0.994	D;P;D;D;P	0.69142	0.962;0.88;0.921;0.915;0.809	T	0.54801	-0.8239	10	0.87932	D	0	.	8.9387	0.35715	0.0:0.0:0.1879:0.8121	.	63;243;238;238;68	F5H144;B4DR54;Q9Y653-2;Q9Y653;E7ENB2	.;.;.;GPR56_HUMAN;.	R	238;238;238;238;238;63;68;238	ENSP00000373465:W238R;ENSP00000373464:W238R;ENSP00000444415:W238R;ENSP00000398034:W238R;ENSP00000444911:W238R;ENSP00000438006:W63R;ENSP00000369016:W68R;ENSP00000369018:W238R	ENSP00000369016:W68R	W	+	1	0	GPR56	56245490	1.000000	0.71417	0.914000	0.36105	0.007000	0.05969	2.708000	0.47152	0.741000	0.32674	-0.488000	0.04728	TGG		0.652	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3				14	114	0	0	0	0.004007	0	14	114		
SMPD3	55512	broad.mit.edu	37	16	68405651	68405651	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:68405651A>T	ENST00000219334.5	-	3	1037	c.434T>A	c.(433-435)tTt>tAt	p.F145Y	SMPD3_ENST00000568373.1_Missense_Mutation_p.F145Y|SMPD3_ENST00000563226.1_Missense_Mutation_p.F145Y|SMPD3_ENST00000566009.1_5'Flank	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	145					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	TTGGGTGTTAAAAAGGTTGTT	0.592																																						uc002ewa.2		NaN																	0				skin(1)	1						c.(433-435)TTT>TAT		neutral sphingomyelin phosphodiesterase 3	Phosphatidylserine(DB00144)						21.0	25.0	24.0					16																	68405651		2198	4300	6498	SO:0001583	missense	55512				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr16:68405651A>T	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.434T>A	16.37:g.68405651A>T	ENSP00000219334:p.Phe145Tyr					SMPD3_uc010cfe.2_Missense_Mutation_p.F145Y|SMPD3_uc010vlh.1_Missense_Mutation_p.F145Y	p.F145Y	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	3	856	-		Ovarian(137;0.0563)	145			Lumenal (Potential).		B7ZL82|Q2M1S8	Missense_Mutation	SNP	ENST00000219334.5	37	c.434T>A	CCDS10867.1	.	.	.	.	.	.	.	.	.	.	A	1.594	-0.528225	0.04112	.	.	ENSG00000103056	ENST00000219334	T	0.47177	0.85	5.24	1.66	0.24008	.	0.267442	0.44097	N	0.000492	T	0.31949	0.0813	L	0.36672	1.1	0.29899	N	0.824556	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.06405	0.002;0.002;0.002	T	0.18272	-1.0342	10	0.51188	T	0.08	-7.3805	5.0425	0.14465	0.6971:0.0:0.1638:0.1391	.	145;145;145	B7ZL82;B7ZL84;Q9NY59	.;.;NSMA2_HUMAN	Y	145	ENSP00000219334:F145Y	ENSP00000219334:F145Y	F	-	2	0	SMPD3	66963152	0.991000	0.36638	0.695000	0.30226	0.916000	0.54674	1.182000	0.32029	0.374000	0.24650	-0.256000	0.11100	TTT		0.592	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3		NM_018667		9	26	0	0	0	0.006214	0	9	26		
DNAAF1	123872	broad.mit.edu	37	16	84203923	84203923	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:84203923G>A	ENST00000378553.5	+	8	1613	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	497	Pro-rich.				axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CCTCCCAGCTGAGGCCCCACC	0.627																																						uc002fhl.3		NaN																	0					0						c.(1489-1491)GAG>AAG		leucine rich repeat containing 50							30.0	31.0	31.0					16																	84203923		2198	4297	6495	SO:0001583	missense	123872	Kartagener_syndrome			axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84203923G>A	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1489G>A	16.37:g.84203923G>A	ENSP00000367815:p.Glu497Lys					LRRC50_uc010vnw.1_Missense_Mutation_p.E261K	p.E497K	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN			8	1670	+			497			Pro-rich.		B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.1489G>A	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534815	0.45073	.	.	ENSG00000154099	ENST00000378553	T	0.27890	1.64	1.35	1.35	0.21983	.	4.317860	0.02185	U	0.060869	T	0.40297	0.1111	L	0.43152	1.355	0.27990	N	0.9357	D;D	0.64830	0.994;0.983	D;P	0.65323	0.934;0.877	T	0.49466	-0.8937	10	0.06494	T	0.89	.	6.1405	0.20257	0.0:0.0:1.0:0.0	.	261;497	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	K	497	ENSP00000367815:E497K	ENSP00000367815:E497K	E	+	1	0	DNAAF1	82761424	0.000000	0.05858	0.071000	0.20095	0.010000	0.07245	-0.239000	0.08965	1.078000	0.41014	0.467000	0.42956	GAG		0.627	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3		NM_178452		32	70	0	0	0	0.010818	0	32	70		
KIAA0513	9764	broad.mit.edu	37	16	85100858	85100858	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:85100858C>T	ENST00000566428.1	+	2	812	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	KIAA0513_ENST00000258180.3_Missense_Mutation_p.P61S|KIAA0513_ENST00000567328.1_Missense_Mutation_p.P61S|KIAA0513_ENST00000538274.1_Missense_Mutation_p.P61S			O60268	K0513_HUMAN	KIAA0513	61						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		GGGCGAGTCGCCCTCGCACCC	0.632																																						uc002fiu.2		NaN																	0				breast(1)	1						c.(181-183)CCC>TCC		hypothetical protein LOC9764							70.0	55.0	60.0					16																	85100858		2199	4300	6499	SO:0001583	missense	9764					cytoplasm		g.chr16:85100858C>T	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.181C>T	16.37:g.85100858C>T	ENSP00000457408:p.Pro61Ser					KIAA0513_uc002fis.3_Missense_Mutation_p.P61S|KIAA0513_uc010voj.1_Missense_Mutation_p.P61S|KIAA0513_uc002fit.2_Missense_Mutation_p.P61S	p.P61S	NM_014732	NP_055547	O60268	K0513_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.234)	2	401	+			61					B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP	ENST00000566428.1	37	c.181C>T	CCDS32499.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891247	0.72524	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.35236	1.32;1.32	4.54	4.54	0.55810	.	0.230716	0.44688	D	0.000437	T	0.59838	0.2223	M	0.72894	2.215	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.64728	-0.6339	10	0.66056	D	0.02	-15.7344	16.2567	0.82522	0.0:1.0:0.0:0.0	.	61;61	B4DSS5;O60268	.;K0513_HUMAN	S	61	ENSP00000446439:P61S;ENSP00000258180:P61S	ENSP00000258180:P61S	P	+	1	0	KIAA0513	83658359	0.990000	0.36364	0.550000	0.28217	0.911000	0.54048	4.094000	0.57721	2.234000	0.73211	0.561000	0.74099	CCC		0.632	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1		NM_014732		6	98	0	0	0	0.001168	0	6	98		
KIAA0513	9764	broad.mit.edu	37	16	85114926	85114926	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:85114926C>G	ENST00000566428.1	+	9	1539	c.908C>G	c.(907-909)aCt>aGt	p.T303S	KIAA0513_ENST00000258180.3_Missense_Mutation_p.T303S|KIAA0513_ENST00000538274.1_Missense_Mutation_p.T303S			O60268	K0513_HUMAN	KIAA0513	303						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		TGCAGGCACACTCTGAGGTTC	0.567																																						uc002fiu.2		NaN																	0				breast(1)	1						c.(907-909)ACT>AGT		hypothetical protein LOC9764							64.0	49.0	54.0					16																	85114926		2198	4300	6498	SO:0001583	missense	9764					cytoplasm		g.chr16:85114926C>G	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.908C>G	16.37:g.85114926C>G	ENSP00000457408:p.Thr303Ser					KIAA0513_uc010voj.1_Missense_Mutation_p.T303S	p.T303S	NM_014732	NP_055547	O60268	K0513_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.234)	9	1128	+			303					B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP	ENST00000566428.1	37	c.908C>G	CCDS32499.1	.	.	.	.	.	.	.	.	.	.	C	8.860	0.946819	0.18356	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.36340	1.26;1.26	4.75	4.75	0.60458	.	0.050919	0.85682	D	0.000000	T	0.17534	0.0421	N	0.04636	-0.2	0.44359	D	0.997255	B;B	0.15473	0.005;0.013	B;B	0.16722	0.009;0.016	T	0.10291	-1.0636	10	0.16420	T	0.52	-14.7323	12.6887	0.56962	0.1653:0.8347:0.0:0.0	.	303;303	B4DSS5;O60268	.;K0513_HUMAN	S	303	ENSP00000446439:T303S;ENSP00000258180:T303S	ENSP00000258180:T303S	T	+	2	0	KIAA0513	83672427	1.000000	0.71417	0.997000	0.53966	0.615000	0.37417	5.557000	0.67313	2.350000	0.79820	0.561000	0.74099	ACT		0.567	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1		NM_014732		19	22	0	0	0	0.008871	0	19	22		
GAS8	2622	broad.mit.edu	37	16	90099213	90099213	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr16:90099213C>G	ENST00000268699.4	+	4	498	c.376C>G	c.(376-378)Ctg>Gtg	p.L126V	C16orf3_ENST00000408886.2_5'Flank|GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Missense_Mutation_p.L101V	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	126	Microtubule-binding.				cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		AGTCATGAAGCTGGCACAGAA	0.552																																						uc002fqi.1		NaN																	0				ovary(1)	1						c.(376-378)CTG>GTG		growth arrest-specific 8							125.0	97.0	107.0					16																	90099213		2198	4300	6498	SO:0001583	missense	2622				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding	g.chr16:90099213C>G	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.376C>G	16.37:g.90099213C>G	ENSP00000268699:p.Leu126Val					GAS8_uc010vps.1_Missense_Mutation_p.L101V|GAS8_uc002fqh.2_Missense_Mutation_p.L43V|GAS8_uc010vpt.1_Missense_Mutation_p.L126V|GAS8_uc010vpu.1_Missense_Mutation_p.L43V|GAS8_uc010vpv.1_Missense_Mutation_p.L97V|GAS8_uc010cjc.1_Missense_Mutation_p.L43V|GAS8_uc010vpw.1_Missense_Mutation_p.L43V|GAS8_uc002fqj.1_5'UTR|C16orf3_uc002fqk.1_5'Flank	p.L126V	NM_001481	NP_001472	O95995	GAS8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.029)	4	498	+		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	126			Microtubule-binding.		B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	c.376C>G	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.382299	0.42207	.	.	ENSG00000141013	ENST00000536122;ENST00000268699;ENST00000540721;ENST00000537797	T;T	0.36157	1.29;1.27	5.82	5.82	0.92795	.	0.210287	0.42053	D	0.000765	T	0.49406	0.1555	M	0.79693	2.465	0.53688	D	0.99997	P;P;P;P	0.51057	0.847;0.941;0.887;0.908	B;B;P;B	0.44696	0.235;0.421;0.458;0.235	T	0.53436	-0.8439	9	.	.	.	-24.4284	19.6802	0.95960	0.0:1.0:0.0:0.0	.	97;43;126;126	B7Z1X3;Q68D98;B7Z9B0;O95995	.;.;.;GAS8_HUMAN	V	101;126;97;126	ENSP00000440977:L101V;ENSP00000268699:L126V	.	L	+	1	2	GAS8	88626714	1.000000	0.71417	1.000000	0.80357	0.326000	0.28443	3.567000	0.53813	2.758000	0.94735	0.650000	0.86243	CTG		0.552	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2				9	166	0	0	0	0.006214	0	9	166		
SERPINF1	5176	broad.mit.edu	37	17	1680704	1680704	+	Silent	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:1680704C>G	ENST00000254722.4	+	8	1384	c.1221C>G	c.(1219-1221)ctC>ctG	p.L407L		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	407					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GGGCCCTTCTCTTCATTGGCA	0.542																																						uc002ftl.2		NaN																	0				ovary(1)	1						c.(1219-1221)CTC>CTG		serine (or cysteine) proteinase inhibitor, clade							88.0	93.0	91.0					17																	1680704		2203	4300	6503	SO:0001819	synonymous_variant	5176				cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity	g.chr17:1680704C>G	M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"""Serine (or cysteine) peptidase inhibitors"""	8824	protein-coding gene	gene with protein product	"""pigment epithelium-derived factor"", ""proliferation-inducing protein 35"""	172860	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"""	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.1221C>G	17.37:g.1680704C>G						SERPINF1_uc010cjw.2_Silent_p.L220L	p.L407L	NM_002615	NP_002606	P36955	PEDF_HUMAN			8	1378	+			407					F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Silent	SNP	ENST00000254722.4	37	c.1221C>G	CCDS11012.1																																																																																				0.542	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207109.4		NM_002615		29	202	0	0	0	0.009535	0	29	202		
NEURL4	84461	broad.mit.edu	37	17	7222372	7222372	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:7222372G>C	ENST00000399464.2	-	22	3696	c.3681C>G	c.(3679-3681)ctC>ctG	p.L1227L	NEURL4_ENST00000570460.1_Silent_p.L1203L|RP11-542C16.2_ENST00000575474.1_Nonsense_Mutation_p.S41*|NEURL4_ENST00000574120.1_5'Flank|NEURL4_ENST00000315614.7_Silent_p.L1225L	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1227	NHR 6. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TACTCACCTTGAGACCGTTGT	0.627																																						uc002gga.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(3679-3681)CTC>CTG		neuralized homolog 4 isoform 1							49.0	57.0	54.0					17																	7222372		1979	4149	6128	SO:0001819	synonymous_variant	84461						protein binding	g.chr17:7222372G>C		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.3681C>G	17.37:g.7222372G>C						NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_5'UTR|NEURL4_uc002ggb.1_Silent_p.L1225L	p.L1227L	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN			22	3688	-			1227			NHR 6.		Q6GPI8|Q96IU9|Q9H0B0	Silent	SNP	ENST00000399464.2	37	c.3681C>G	CCDS42251.1																																																																																				0.627	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2		NM_032442		7	64	0	0	0	0.00308	0	7	64		
DNAH2	146754	broad.mit.edu	37	17	7637562	7637562	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:7637562G>A	ENST00000572933.1	+	6	2150	c.690G>A	c.(688-690)atG>atA	p.M230I	DNAH2_ENST00000082259.3_Missense_Mutation_p.M230I|DNAH2_ENST00000389173.2_Missense_Mutation_p.M230I|DNAH2_ENST00000570791.1_Missense_Mutation_p.M230I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	230	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCATGAACATGAAGCCTGAGA	0.537																																						uc002giu.1		NaN																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(688-690)ATG>ATA		dynein heavy chain domain 3							95.0	81.0	85.0					17																	7637562		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7637562G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.690G>A	17.37:g.7637562G>A	ENSP00000458355:p.Met230Ile					DNAH2_uc002git.2_Missense_Mutation_p.M230I|DNAH2_uc010vuk.1_Missense_Mutation_p.M230I	p.M230I	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			5	704	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	230			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.690G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.387694	0.25031	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.21734	1.99;2.33	5.39	5.39	0.77823	.	0.958681	0.08715	N	0.904339	T	0.07728	0.0194	N	0.01188	-0.97	0.28016	N	0.934693	B;B	0.12013	0.0;0.005	B;B	0.08055	0.0;0.003	T	0.21484	-1.0244	10	0.15952	T	0.53	.	8.3618	0.32363	0.1678:0.0:0.8322:0.0	.	230;230	Q9P225;Q9P225-3	DYH2_HUMAN;.	I	230	ENSP00000373825:M230I;ENSP00000082259:M230I	ENSP00000082259:M230I	M	+	3	0	DNAH2	7578287	1.000000	0.71417	0.999000	0.59377	0.874000	0.50279	2.368000	0.44222	2.555000	0.86185	0.455000	0.32223	ATG		0.537	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1		NM_020877		7	16	0	0	0	0.004482	0	7	16		
MYOCD	93649	broad.mit.edu	37	17	12656344	12656344	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:12656344C>T	ENST00000343344.4	+	10	1739	c.1739C>T	c.(1738-1740)cCt>cTt	p.P580L	MYOCD_ENST00000425538.1_Missense_Mutation_p.P580L|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Missense_Mutation_p.P484L			Q8IZQ8	MYCD_HUMAN	myocardin	580					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCCAGCTGTCCTTTTGCATCC	0.512																																						uc002gnn.2		NaN																	0				central_nervous_system(2)|skin(2)|ovary(1)	5						c.(1738-1740)CCT>CTT		myocardin isoform 2							65.0	70.0	68.0					17																	12656344		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12656344C>T	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1739C>T	17.37:g.12656344C>T	ENSP00000341835:p.Pro580Leu					MYOCD_uc002gno.2_Missense_Mutation_p.P580L|MYOCD_uc002gnp.1_Missense_Mutation_p.P484L|MYOCD_uc002gnq.2_Missense_Mutation_p.P299L	p.P580L	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	2038	+			580					Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.1739C>T	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139829	0.77775	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.46819	0.87;0.86	5.81	5.81	0.92471	.	0.048531	0.85682	D	0.000000	T	0.67040	0.2851	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	0.989;0.999;1.0;0.999	P;D;D;D	0.76575	0.891;0.978;0.988;0.952	T	0.66396	-0.5934	10	0.59425	D	0.04	-16.903	18.8451	0.92202	0.0:1.0:0.0:0.0	.	299;484;580;580	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	L	299;580;580;484;285	ENSP00000341835:P580L;ENSP00000400148:P285L	ENSP00000341835:P580L	P	+	2	0	MYOCD	12597069	1.000000	0.71417	0.690000	0.30148	0.749000	0.42624	7.179000	0.77665	2.748000	0.94277	0.655000	0.94253	CCT		0.512	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1		NM_153604		8	122	0	0	0	0.00308	0	8	122		
DRG2	1819	broad.mit.edu	37	17	17997132	17997132	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:17997132G>A	ENST00000225729.3	+	2	208	c.70G>A	c.(70-72)Gag>Aag	p.E24K	DRG2_ENST00000395726.4_Missense_Mutation_p.E24K|DRG2_ENST00000583355.1_Missense_Mutation_p.E24K	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	24					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					TTTAGCCACTGAGTATCATCT	0.577																																						uc002gsh.1		NaN																	0				ovary(1)	1						c.(70-72)GAG>AAG		developmentally regulated GTP binding protein 2							87.0	79.0	82.0					17																	17997132		2203	4300	6503	SO:0001583	missense	1819				signal transduction		GTP binding	g.chr17:17997132G>A	X80754	CCDS11191.1	17p13-p12	2008-07-18	2001-11-28		ENSG00000108591	ENSG00000108591			3030	protein-coding gene	gene with protein product		602986	"""developmentally regulated GTP-binding protein 2"""			9605870, 7929244	Standard	NM_001388		Approved		uc002gsh.2	P55039	OTTHUMG00000059399	ENST00000225729.3:c.70G>A	17.37:g.17997132G>A	ENSP00000225729:p.Glu24Lys					DRG2_uc010vxg.1_Missense_Mutation_p.E24K|DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Missense_Mutation_p.E24K	p.E24K	NM_001388	NP_001379	P55039	DRG2_HUMAN			2	125	+	all_neural(463;0.228)		24					B2R8G5|Q53Y50|Q9BWB2	Missense_Mutation	SNP	ENST00000225729.3	37	c.70G>A	CCDS11191.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677923	0.68042	.	.	ENSG00000108591	ENST00000395726;ENST00000225729	T;T	0.17054	2.3;2.3	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.55000	0.1893	M	0.94021	3.485	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	P;D;D	0.85130	0.872;0.997;0.997	T	0.67864	-0.5560	10	0.66056	D	0.02	-14.0227	18.8295	0.92132	0.0:0.0:1.0:0.0	.	24;24;24	B4DIG2;A8MZF9;P55039	.;.;DRG2_HUMAN	K	24	ENSP00000379076:E24K;ENSP00000225729:E24K	ENSP00000225729:E24K	E	+	1	0	DRG2	17937857	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	9.701000	0.98710	2.457000	0.83068	0.655000	0.94253	GAG		0.577	DRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132075.3		NM_001388		31	77	0	0	0	0.002836	0	31	77		
NOS2	4843	broad.mit.edu	37	17	26087165	26087165	+	Missense_Mutation	SNP	C	C	T	rs371294348		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:26087165C>T	ENST00000313735.6	-	25	3283	c.3050G>A	c.(3049-3051)cGc>cAc	p.R1017H		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	1017					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	ATCTGGGCGGCGGCACCCAAA	0.652											OREG0024268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002gzu.2		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(3049-3051)CGC>CAC		nitric oxide synthase 2A	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	C	HIS/ARG	0,4406		0,0,2203	57.0	59.0	58.0		3050	3.8	1.0	17		58	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOS2	NM_000625.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1017/1154	26087165	1,13005	2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26087165C>T	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.3050G>A	17.37:g.26087165C>T	ENSP00000327251:p.Arg1017His		OREG0024268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	784		p.R1017H	NM_000625	NP_000616	P35228	NOS2_HUMAN			25	3314	-			1017					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.3050G>A	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447585	0.84101	0.0	1.16E-4	ENSG00000007171	ENST00000313735;ENST00000379105	D	0.84298	-1.83	4.79	3.82	0.43975	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.143805	0.47093	D	0.000251	D	0.94581	0.8254	H	0.98612	4.28	0.44807	D	0.997817	D	0.89917	1.0	D	0.78314	0.991	D	0.94019	0.7291	10	0.87932	D	0	.	8.6417	0.33981	0.0:0.8246:0.0:0.1754	.	1017	P35228	NOS2_HUMAN	H	1017;978	ENSP00000327251:R1017H	ENSP00000327251:R1017H	R	-	2	0	NOS2	23111292	0.998000	0.40836	0.991000	0.47740	0.957000	0.61999	3.367000	0.52350	1.019000	0.39547	0.462000	0.41574	CGC		0.652	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1		NM_000625		19	104	0	0	0	0.007413	0	19	104		
NEK8	284086	broad.mit.edu	37	17	27064966	27064966	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:27064966G>C	ENST00000268766.6	+	7	1053	c.1019G>C	c.(1018-1020)gGg>gCg	p.G340A	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	340					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GTGGCAGCTGGGCGCACGCAG	0.672																																					NSCLC(6;19 293 14866 25253 49845)	uc002hcp.2		NaN																	0				stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6						c.(1018-1020)GGG>GCG		NIMA-related kinase 8							33.0	39.0	37.0					17																	27064966		2202	4296	6498	SO:0001583	missense	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27064966G>C	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1019G>C	17.37:g.27064966G>C	ENSP00000268766:p.Gly340Ala						p.G340A	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN			7	1019	+	Lung NSC(42;0.0158)		340			RCC1 1.		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	c.1019G>C	CCDS32597.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.360168|4.360168	0.82353|0.82353	.|.	.|.	ENSG00000160602|ENSG00000160602	ENST00000268766|ENST00000543014	D|T	0.86164|0.70282	-2.08|-0.47	5.49|5.49	5.49|5.49	0.81192|0.81192	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87430|0.87430	0.6175|0.6175	M|M	0.91140|0.91140	3.18|3.18	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.65773|.	0.938|.	D|D	0.89328|0.89328	0.3645|0.3645	10|7	0.72032|0.56958	D|D	0.01|0.05	.|.	18.3608|18.3608	0.90374|0.90374	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	340|.	Q86SG6|.	NEK8_HUMAN|.	A|C	340|393	ENSP00000268766:G340A|ENSP00000465859:W393C	ENSP00000268766:G340A|ENSP00000446066:W393C	G|W	+|+	2|3	0|0	NEK8|NEK8	24089093|24089093	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.160000|0.160000	0.22226|0.22226	9.514000|9.514000	0.98013|0.98013	2.594000|2.594000	0.87642|0.87642	0.591000|0.591000	0.81541|0.81541	GGG|TGG		0.672	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2				10	163	0	0	0	0.010729	0	10	163		
EFCAB5	374786	broad.mit.edu	37	17	28417662	28417662	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:28417662T>G	ENST00000394835.3	+	20	4099	c.3907T>G	c.(3907-3909)Tct>Gct	p.S1303A	EFCAB5_ENST00000394832.2_Intron|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000320856.5_Missense_Mutation_p.S1179A	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1303							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGGCGAGTTCTCTGGAGAGAT	0.383																																						uc002het.2		NaN																	0				ovary(1)|skin(1)	2						c.(3907-3909)TCT>GCT		EF-hand calcium binding domain 5 isoform a							124.0	125.0	125.0					17																	28417662		1829	4085	5914	SO:0001583	missense	374786						calcium ion binding	g.chr17:28417662T>G	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.3907T>G	17.37:g.28417662T>G	ENSP00000378312:p.Ser1303Ala					EFCAB5_uc010cse.2_Missense_Mutation_p.S1058A|EFCAB5_uc010csf.2_Intron	p.S1303A	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN			20	4099	+			1303					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.3907T>G	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	T	9.857	1.195198	0.22037	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.10763	2.84;2.86;2.86	5.35	2.97	0.34412	.	0.277119	0.31760	N	0.007105	T	0.14313	0.0346	L	0.49640	1.575	0.41316	D	0.987144	D;P	0.54601	0.967;0.885	P;P	0.53035	0.716;0.57	T	0.13019	-1.0525	10	0.23302	T	0.38	-13.4229	5.878	0.18840	0.2564:0.0731:0.0:0.6704	.	1179;1303	E7EVS9;A4FU69	.;EFCB5_HUMAN	A	1303;1179;985	ENSP00000378312:S1303A;ENSP00000322003:S1179A;ENSP00000417009:S985A	ENSP00000322003:S1179A	S	+	1	0	EFCAB5	25441788	0.241000	0.23857	0.721000	0.30653	0.454000	0.32378	0.637000	0.24659	0.821000	0.34540	0.533000	0.62120	TCT		0.383	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4		NM_198529		25	94	0	0	0	0.004656	0	25	94		
AP2B1	163	broad.mit.edu	37	17	33977553	33977553	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:33977553C>A	ENST00000262325.7	+	13	2094	c.1541C>A	c.(1540-1542)tCt>tAt	p.S514Y	AP2B1_ENST00000312678.8_Missense_Mutation_p.S514Y|AP2B1_ENST00000537622.2_Missense_Mutation_p.S514Y|AP2B1_ENST00000592545.1_Missense_Mutation_p.S476Y|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000538556.1_Missense_Mutation_p.S457Y|AP2B1_ENST00000589344.1_Missense_Mutation_p.S514Y	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	514					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CTTTAGGATTCTGATAATCCT	0.438																																						uc002hjr.2		NaN																	0				ovary(1)	1						c.(1540-1542)TCT>TAT		adaptor-related protein complex 2, beta 1							128.0	126.0	126.0					17																	33977553		2203	4300	6503	SO:0001583	missense	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:33977553C>A	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1541C>A	17.37:g.33977553C>A	ENSP00000262325:p.Ser514Tyr					AP2B1_uc002hjq.2_Missense_Mutation_p.S514Y|AP2B1_uc010wci.1_Missense_Mutation_p.S476Y|AP2B1_uc002hjs.2_Missense_Mutation_p.S457Y|AP2B1_uc002hjt.2_Missense_Mutation_p.S514Y|AP2B1_uc010ctv.2_Missense_Mutation_p.S514Y|AP2B1_uc010wcj.1_Missense_Mutation_p.S251Y	p.S514Y	NM_001282	NP_001273	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	13	1730	+		Ovarian(249;0.17)	514					A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.1541C>A	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787171	0.90367	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.73	5.73	0.89815	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62720	0.2451	M	0.85630	2.765	0.80722	D	1	D;D;D;D	0.89917	1.0;0.985;1.0;0.961	D;D;D;P	0.87578	0.998;0.967;0.985;0.472	T	0.67245	-0.5719	10	0.87932	D	0	-17.007	18.8762	0.92337	0.0:1.0:0.0:0.0	.	251;476;514;514	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	Y	514;514;457;514;251	ENSP00000262325:S514Y;ENSP00000314414:S514Y;ENSP00000440563:S457Y;ENSP00000437413:S514Y	ENSP00000262325:S514Y	S	+	2	0	AP2B1	31001666	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.809000	0.86057	2.720000	0.93068	0.591000	0.81541	TCT		0.438	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1				52	82	1	0	2.14674e-31	0.00361	2.47876e-31	52	82		
PLXDC1	57125	broad.mit.edu	37	17	37265201	37265201	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:37265201G>C	ENST00000315392.4	-	4	636	c.425C>G	c.(424-426)cCt>cGt	p.P142R	PLXDC1_ENST00000444911.2_Missense_Mutation_p.P102R|PLXDC1_ENST00000394316.2_Missense_Mutation_p.P142R|PLXDC1_ENST00000539608.1_Missense_Mutation_p.P69R|PLXDC1_ENST00000493200.1_5'UTR	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	142					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCCGTAGAAAGGGAAATCAAA	0.617																																						uc002hrg.2		NaN																	0				ovary(1)|kidney(1)|skin(1)	3						c.(424-426)CCT>CGT		plexin domain containing 1 precursor							64.0	62.0	63.0					17																	37265201		2203	4300	6503	SO:0001583	missense	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37265201G>C	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.425C>G	17.37:g.37265201G>C	ENSP00000323927:p.Pro142Arg					PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA	p.P142R	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN			4	637	-			142			Extracellular (Potential).		B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	ENST00000315392.4	37	c.425C>G	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408817	0.42715	.	.	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000539608;ENST00000444911;ENST00000394316;ENST00000441877;ENST00000415163	D;D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58;-1.58	5.28	5.28	0.74379	.	0.115769	0.64402	D	0.000013	D	0.90916	0.7145	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.91717	0.5386	10	0.66056	D	0.02	-9.8622	16.0097	0.80391	0.0:0.0:1.0:0.0	.	142	Q8IUK5	PXDC1_HUMAN	R	142;69;69;102;142;69;69	ENSP00000323927:P142R;ENSP00000441881:P69R;ENSP00000409687:P102R;ENSP00000377851:P142R;ENSP00000393227:P69R;ENSP00000416819:P69R	ENSP00000323927:P142R	P	-	2	0	PLXDC1	34518727	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.715000	0.84713	2.624000	0.88883	0.655000	0.94253	CCT		0.617	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2		NM_020405		14	29	0	0	0	0.004007	0	14	29		
FKBP10	60681	broad.mit.edu	37	17	39977232	39977232	+	Silent	SNP	C	C	T	rs143450797	byFrequency	TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:39977232C>T	ENST00000321562.4	+	8	1394	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L	FKBP10_ENST00000544340.1_Silent_p.L203L	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	430	PPIase FKBP-type 4. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		AGGCGACTCTCGGGGCCAACA	0.701													C|||	6	0.00119808	0.0023	0.0014	5008	,	,		12467	0.0		0.002	False		,,,				2504	0.0					uc002hxv.2		NaN																	0				ovary(1)	1						c.(1288-1290)CTC>CTT		FK506 binding protein 10 precursor		C		1,4397		0,1,2198	16.0	19.0	18.0		1290	2.5	1.0	17	dbSNP_134	18	8,8590		0,8,4291	no	coding-synonymous	FKBP10	NM_021939.3		0,9,6489	TT,TC,CC		0.093,0.0227,0.0693		430/583	39977232	9,12987	2199	4299	6498	SO:0001819	synonymous_variant	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39977232C>T	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.1290C>T	17.37:g.39977232C>T						FKBP10_uc002hxw.1_Silent_p.L194L	p.L430L	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	8	1615	+		Breast(137;0.00122)	430			PPIase FKBP-type 4.		Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Silent	SNP	ENST00000321562.4	37	c.1290C>T	CCDS11409.1	4	0.0018315018315018315	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	C	9.362	1.068381	0.20067	2.27E-4	9.3E-4	ENSG00000141756	ENST00000455106	.	.	.	5.55	2.45	0.29901	.	.	.	.	.	T	0.59676	0.2211	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53173	-0.8476	4	.	.	.	-21.765	10.56	0.45140	0.0695:0.2598:0.6707:0.0	.	.	.	.	L	234	.	.	S	+	2	0	FKBP10	37230758	0.998000	0.40836	0.999000	0.59377	0.917000	0.54804	0.397000	0.20883	0.303000	0.22785	-0.228000	0.12330	TCG		0.701	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2		NM_021939		4	30	0	0	0	0.009096	0	4	30		
NT5C3B	115024	broad.mit.edu	37	17	39991455	39991455	+	Splice_Site	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:39991455T>A	ENST00000435506.2	-	3	250	c.181A>T	c.(181-183)Aat>Tat	p.N61Y	NT5C3B_ENST00000269534.8_Splice_Site_p.N53Y|KLHL10_ENST00000293303.4_5'Flank|NT5C3B_ENST00000521789.1_Splice_Site_p.N28Y|RN7SL871P_ENST00000583512.1_RNA			Q969T7	5NT3B_HUMAN	5'-nucleotidase, cytosolic IIIB	61					nucleotide metabolic process (GO:0009117)	cytoplasm (GO:0005737)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										TGTGACTTACTGTAAGAAGAA	0.388																																						uc002hyc.3		NaN																	0					0						c.(283-285)AAT>TAT		5'-nucleotidase, cytosolic III-like							134.0	118.0	123.0					17																	39991455		2203	4300	6503	SO:0001630	splice_region_variant	115024					cytoplasm	5'-nucleotidase activity|magnesium ion binding	g.chr17:39991455T>A		CCDS11410.1, CCDS11410.2	17q21.2	2013-01-31	2013-01-31	2013-01-31	ENSG00000141698	ENSG00000141698	3.1.3.5		28300	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic III-like"""	NT5C3L		23223233	Standard	NM_052935		Approved	MGC20781	uc021txo.1	Q969T7	OTTHUMG00000133499	ENST00000435506.2:c.181+1A>T	17.37:g.39991455T>A						NT5C3L_uc002hxx.3_5'Flank|NT5C3L_uc010wfu.1_5'Flank|NT5C3L_uc002hyb.3_Missense_Mutation_p.N18Y|NT5C3L_uc002hyd.3_Missense_Mutation_p.N18Y|NT5C3L_uc002hxy.3_Missense_Mutation_p.N53Y|NT5C3L_uc002hxz.3_Missense_Mutation_p.N18Y|NT5C3L_uc002hya.3_Missense_Mutation_p.N53Y|KLHL10_uc010cxr.2_5'Flank|KLHL10_uc010wfv.1_5'Flank|KLHL10_uc010wfw.1_5'Flank	p.N95Y	NM_052935	NP_443167	C9JKC4	C9JKC4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.15)	3	292	-		Breast(137;0.000162)	61					A8MWB9|C9JKC4|Q7L3B7	Missense_Mutation	SNP	ENST00000435506.2	37	c.283A>T	CCDS11410.2	.	.	.	.	.	.	.	.	.	.	T	24.9	4.576586	0.86645	.	.	ENSG00000141698	ENST00000269534;ENST00000521789;ENST00000393911;ENST00000435506;ENST00000415460	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	4.56	4.56	0.56223	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89602	0.6762	M	0.72479	2.2	0.80722	D	1	D;D;D	0.89917	1.0;0.986;1.0	D;P;D	0.83275	0.996;0.889;0.996	D	0.89677	0.3888	9	.	.	.	1.2489	13.798	0.63182	0.0:0.0:0.0:1.0	.	61;28;53	C9JKC4;E5RH64;Q969T7	.;.;5NT3L_HUMAN	Y	53;28;95;61;61	ENSP00000269534:N53Y;ENSP00000429878:N28Y;ENSP00000389948:N61Y;ENSP00000397742:N61Y	.	N	-	1	0	NT5C3L	37244981	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.674000	0.83992	1.928000	0.55862	0.456000	0.33151	AAT		0.388	NT5C3B-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257430.2		NM_052935	Missense_Mutation	49	72	0	0	0	0.00361	0	49	72		
MPP2	4355	broad.mit.edu	37	17	41960382	41960382	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:41960382G>C	ENST00000461854.1	-	6	499	c.414C>G	c.(412-414)acC>acG	p.T138T	MPP2_ENST00000518766.1_Silent_p.T159T|MPP2_ENST00000269095.4_Silent_p.T114T|MPP2_ENST00000520305.1_5'UTR|MPP2_ENST00000523501.1_Silent_p.T103T|MPP2_ENST00000377184.3_Silent_p.T131T|MPP2_ENST00000536246.1_Silent_p.T103T|MPP2_ENST00000473246.1_5'UTR			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	138	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GTGTCTCATAGGTCTTTGAGG	0.632																																						uc010wip.1		NaN																	0					0						c.(475-477)ACC>ACG		palmitoylated membrane protein 2							44.0	42.0	43.0					17																	41960382		2203	4300	6503	SO:0001819	synonymous_variant	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41960382G>C		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.414C>G	17.37:g.41960382G>C						MPP2_uc002ien.1_Silent_p.T131T|MPP2_uc010wim.1_Silent_p.T103T|MPP2_uc002ieo.1_Silent_p.T114T|MPP2_uc010win.1_5'UTR|MPP2_uc010wio.1_Silent_p.T103T|MPP2_uc010czm.1_Silent_p.T97T	p.T159T	NM_005374	NP_005365	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	5	534	-		Breast(137;0.00314)	138			L27 2.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000461854.1	37	c.477C>G																																																																																					0.632	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2		NM_005374		8	98	0	0	0	0.00308	0	8	98		
NGFR	4804	broad.mit.edu	37	17	47590264	47590264	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:47590264C>A	ENST00000172229.3	+	6	1302	c.1177C>A	c.(1177-1179)Cag>Aag	p.Q393K	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.Q299K	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	393	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CTGGGCCACCCAGGACAGCGC	0.692																																						uc002ioz.3		NaN																	0				ovary(1)|lung(1)	2						c.(1177-1179)CAG>AAG		nerve growth factor receptor precursor							25.0	27.0	26.0					17																	47590264		2201	4298	6499	SO:0001583	missense	4804				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm		g.chr17:47590264C>A	M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	7809	protein-coding gene	gene with protein product	"""low affinity nerve growth factor receptor"", ""TNFR superfamily, member 16"""	162010	"""nerve growth factor receptor (TNFR superfamily, member 16)"""			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.1177C>A	17.37:g.47590264C>A	ENSP00000172229:p.Gln393Lys						p.Q393K	NM_002507	NP_002498	P08138	TNR16_HUMAN			6	1302	+	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)		393			Cytoplasmic (Potential).|Death.		B2R961|B4E096	Missense_Mutation	SNP	ENST00000172229.3	37	c.1177C>A	CCDS11549.1	.	.	.	.	.	.	.	.	.	.	C	4.986	0.183048	0.09495	.	.	ENSG00000064300	ENST00000172229;ENST00000504201	D;D	0.84516	-1.86;-1.86	4.85	4.85	0.62838	Death (3);DEATH-like (2);	1.228400	0.05788	N	0.609900	T	0.69052	0.3068	N	0.04508	-0.205	0.39698	D	0.971149	B	0.10296	0.003	B	0.10450	0.005	T	0.53472	-0.8434	10	0.02654	T	1	-20.0501	10.6975	0.45907	0.3093:0.6907:0.0:0.0	.	393	P08138	TNR16_HUMAN	K	393;299	ENSP00000172229:Q393K;ENSP00000421731:Q299K	ENSP00000172229:Q393K	Q	+	1	0	NGFR	44945263	0.999000	0.42202	1.000000	0.80357	0.883000	0.51084	2.445000	0.44899	2.233000	0.73108	0.561000	0.74099	CAG		0.692	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1				28	34	1	0	7.07758e-08	0.004656	7.47535e-08	28	34		
NGFR	4804	broad.mit.edu	37	17	47590332	47590332	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:47590332G>C	ENST00000172229.3	+	6	1370	c.1245G>C	c.(1243-1245)gaG>gaC	p.E415D	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.E321D	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	415	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					ACCTCGTGGAGAGTCTGTGCA	0.706																																						uc002ioz.3		NaN																	0				ovary(1)|lung(1)	2						c.(1243-1245)GAG>GAC		nerve growth factor receptor precursor							12.0	12.0	12.0					17																	47590332		2189	4273	6462	SO:0001583	missense	4804				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm		g.chr17:47590332G>C	M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	7809	protein-coding gene	gene with protein product	"""low affinity nerve growth factor receptor"", ""TNFR superfamily, member 16"""	162010	"""nerve growth factor receptor (TNFR superfamily, member 16)"""			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.1245G>C	17.37:g.47590332G>C	ENSP00000172229:p.Glu415Asp						p.E415D	NM_002507	NP_002498	P08138	TNR16_HUMAN			6	1370	+	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)		415			Cytoplasmic (Potential).|Death.		B2R961|B4E096	Missense_Mutation	SNP	ENST00000172229.3	37	c.1245G>C	CCDS11549.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697121	0.68386	.	.	ENSG00000064300	ENST00000172229;ENST00000504201	D;D	0.87029	-2.2;-2.2	4.32	2.27	0.28462	Death (3);DEATH-like (2);	0.914998	0.09207	N	0.833764	D	0.86986	0.6065	L	0.47716	1.5	0.31683	N	0.642814	D	0.56746	0.977	P	0.54759	0.76	T	0.80549	-0.1333	10	0.44086	T	0.13	-18.0442	5.844	0.18652	0.1831:0.1623:0.6546:0.0	.	415	P08138	TNR16_HUMAN	D	415;321	ENSP00000172229:E415D;ENSP00000421731:E321D	ENSP00000172229:E415D	E	+	3	2	NGFR	44945331	1.000000	0.71417	0.995000	0.50966	0.773000	0.43773	1.314000	0.33597	0.429000	0.26202	0.561000	0.74099	GAG		0.706	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1				10	14	0	0	0	0.010729	0	10	14		
ITGA3	3675	broad.mit.edu	37	17	48156573	48156573	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:48156573C>A	ENST00000320031.8	+	20	2864	c.2534C>A	c.(2533-2535)cCc>cAc	p.P845H	ITGA3_ENST00000007722.7_Missense_Mutation_p.P845H	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	845					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GGGTCCTGGCCCTGCCGACCA	0.552																																						uc010dbl.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(2533-2535)CCC>CAC		integrin alpha 3 isoform a precursor							155.0	141.0	146.0					17																	48156573		2203	4300	6503	SO:0001583	missense	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48156573C>A	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2534C>A	17.37:g.48156573C>A	ENSP00000315190:p.Pro845His					ITGA3_uc010dbm.2_Missense_Mutation_p.P845H	p.P845H	NM_002204	NP_002195	P26006	ITA3_HUMAN			20	2998	+			845			Extracellular (Potential).		A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.2534C>A	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	C	6.246	0.413596	0.11812	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	T;T	0.47528	0.84;0.84	5.05	1.77	0.24775	Integrin alpha-2 (1);	1.037990	0.07514	N	0.909477	T	0.24470	0.0593	N	0.04090	-0.28	0.54753	D	0.999983	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.13361	-1.0512	10	0.39692	T	0.17	.	5.3385	0.15971	0.2991:0.5412:0.0:0.1597	.	845;845	P26006-1;P26006	.;ITA3_HUMAN	H	845;831;845	ENSP00000007722:P845H;ENSP00000315190:P845H	ENSP00000007722:P845H	P	+	2	0	ITGA3	45511572	0.033000	0.19621	0.999000	0.59377	0.907000	0.53573	-0.164000	0.09983	0.693000	0.31634	0.313000	0.20887	CCC		0.552	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1		NM_005501		28	266	1	0	6.38683e-12	0.008361	7.0462e-12	28	266		
KIF2B	84643	broad.mit.edu	37	17	51900906	51900906	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:51900906G>A	ENST00000268919.4	+	1	668	c.512G>A	c.(511-513)cGa>cAa	p.R171Q		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	171					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGGAGATCCGAGCTAGACGC	0.532																																						uc002iua.2		NaN																	0				ovary(5)|skin(3)	8						c.(511-513)CGA>CAA		kinesin family member 2B							62.0	61.0	62.0					17																	51900906		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900906G>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.512G>A	17.37:g.51900906G>A	ENSP00000268919:p.Arg171Gln					uc010wna.1_RNA	p.R171Q	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	668	+			171			Potential.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.512G>A	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711469	0.30322	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.76578	-1.03	5.52	3.16	0.36331	.	0.401210	0.18019	N	0.154283	T	0.63733	0.2536	L	0.42581	1.335	0.25727	N	0.98532	P	0.35908	0.527	B	0.28139	0.086	T	0.58741	-0.7583	10	0.51188	T	0.08	.	6.145	0.20280	0.2073:0.1539:0.6388:0.0	.	171	Q8N4N8	KIF2B_HUMAN	Q	171;94	ENSP00000268919:R171Q	ENSP00000268919:R171Q	R	+	2	0	KIF2B	49255905	0.986000	0.35501	0.633000	0.29310	0.436000	0.31835	1.770000	0.38532	1.455000	0.47813	-0.150000	0.13652	CGA		0.532	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1		NM_032559		87	209	0	0	0	0.00361	0	87	209		
RNF43	54894	broad.mit.edu	37	17	56435956	56435956	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:56435956G>A	ENST00000584437.1	-	8	3136	c.1181C>T	c.(1180-1182)gCa>gTa	p.A394V	RNF43_ENST00000583753.1_Missense_Mutation_p.A353V|RNF43_ENST00000500597.2_Missense_Mutation_p.A353V|RNF43_ENST00000581868.1_Missense_Mutation_p.A267V|RNF43_ENST00000407977.2_Missense_Mutation_p.A394V|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Missense_Mutation_p.A267V|RNF43_ENST00000577716.1_Missense_Mutation_p.A394V			Q68DV7	RNF43_HUMAN	ring finger protein 43	394					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGGGGATGTGCAGCTCTGGG	0.682																																						uc002iwf.2		NaN																	0				ovary(1)	1						c.(1180-1182)GCA>GTA		ring finger protein 43 precursor							19.0	19.0	19.0					17																	56435956		2202	4299	6501	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435956G>A		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1181C>T	17.37:g.56435956G>A	ENSP00000463069:p.Ala394Val					RNF43_uc010wnv.1_Missense_Mutation_p.A353V|RNF43_uc002iwh.3_Missense_Mutation_p.A394V|RNF43_uc002iwg.3_Missense_Mutation_p.A394V|RNF43_uc010dcw.2_Missense_Mutation_p.A267V	p.A394V	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN			8	3137	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		394			Cytoplasmic (Potential).		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.1181C>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	8.973	0.973352	0.18736	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.08370	3.25;3.1	3.79	2.72	0.32119	.	0.903657	0.09496	N	0.794288	T	0.04407	0.0121	N	0.08118	0	0.09310	N	1	B;B;B	0.29646	0.034;0.253;0.02	B;B;B	0.22601	0.025;0.04;0.011	T	0.31943	-0.9925	10	0.37606	T	0.19	-11.658	8.6483	0.34018	0.129:0.0:0.871:0.0	.	353;394;394	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	V	394;353	ENSP00000385328:A394V;ENSP00000441969:A353V	ENSP00000385328:A394V	A	-	2	0	RNF43	53790955	0.324000	0.24652	0.009000	0.14445	0.476000	0.33039	1.875000	0.39578	1.958000	0.56883	0.195000	0.17529	GCA		0.682	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1		NM_017763		6	26	0	0	0	0.001168	0	6	26		
BRIP1	83990	broad.mit.edu	37	17	59857637	59857637	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:59857637G>C	ENST00000259008.2	-	13	2187	c.1920C>G	c.(1918-1920)atC>atG	p.I640M	BRIP1_ENST00000583837.1_5'UTR|BRIP1_ENST00000577598.1_Missense_Mutation_p.I640M	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	640					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						AATTTTTAATGATATGATTAG	0.333			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002izk.1		NaN	yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	F|N|Mis	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		AML|leukemia|breast			0				ovary(1)	1						c.(1918-1920)ATC>ATG	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	BRCA1 interacting protein C-terminal helicase 1							67.0	74.0	72.0					17																	59857637		2203	4300	6503	SO:0001583	missense	83990	Fanconi_Anemia			DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59857637G>C	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.1920C>G	17.37:g.59857637G>C	ENSP00000259008:p.Ile640Met					BRIP1_uc002izl.1_Missense_Mutation_p.I21M	p.I640M	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			13	2061	-			640					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.1920C>G	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084134	0.36758	.	.	ENSG00000136492	ENST00000259008	T	0.75938	-0.98	5.54	5.54	0.83059	.	0.059035	0.64402	D	0.000002	T	0.70386	0.3218	M	0.73962	2.25	0.23501	N	0.997547	B;B	0.26195	0.144;0.087	B;B	0.25614	0.04;0.062	T	0.60905	-0.7170	9	.	.	.	-2.708	7.5532	0.27808	0.0901:0.1693:0.7406:0.0	.	640;640	C9JGZ0;Q9BX63	.;FANCJ_HUMAN	M	640	ENSP00000259008:I640M	.	I	-	3	3	BRIP1	57212419	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.306000	0.33505	2.615000	0.88500	0.655000	0.94253	ATC		0.333	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1		NM_032043		12	84	0	0	0	0.001368	0	12	84		
KCNH6	81033	broad.mit.edu	37	17	61607729	61607729	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:61607729G>A	ENST00000583023.1	+	4	512	c.501G>A	c.(499-501)ggG>ggA	p.G167G	KCNH6_ENST00000314672.5_Silent_p.G167G|KCNH6_ENST00000456941.2_Silent_p.G167G|KCNH6_ENST00000580652.1_Silent_p.G167G|KCNH6_ENST00000581784.1_Silent_p.G167G	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	167					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)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GCGGACCAGGGCCAGGCACAG	0.637																																						uc002jay.2		NaN																	0				skin(1)	1						c.(499-501)GGG>GGA		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						129.0	100.0	110.0					17																	61607729		2203	4300	6503	SO:0001819	synonymous_variant	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61607729G>A	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.501G>A	17.37:g.61607729G>A						KCNH6_uc002jax.1_Silent_p.G167G|KCNH6_uc010wpl.1_Silent_p.G44G|KCNH6_uc010wpm.1_Silent_p.G167G|KCNH6_uc002jaz.1_Silent_p.G167G	p.G167G	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			4	581	+			167			Cytoplasmic (Potential).		Q9BRD7	Silent	SNP	ENST00000583023.1	37	c.501G>A	CCDS11638.1																																																																																				0.637	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1		NM_030779		26	163	0	0	0	0.008361	0	26	163		
LRRC37A3	374819	broad.mit.edu	37	17	62891163	62891163	+	Missense_Mutation	SNP	G	G	C	rs560570240		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:62891163G>C	ENST00000584306.1	-	3	2743	c.2213C>G	c.(2212-2214)tCt>tGt	p.S738C	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.S738C|LRRC37A3_ENST00000400877.3_Intron|RP11-927P21.1_ENST00000577938.1_RNA|RP11-927P21.1_ENST00000584959.1_RNA|RP11-927P21.1_ENST00000584131.1_RNA|LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000577487.1_5'Flank	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	738						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CGTGGTTGGAGATGGTTTAAC	0.512																																						uc002jey.2		NaN																	0					0						c.(2212-2214)TCT>TGT		leucine rich repeat containing 37, member A3							75.0	111.0	100.0					17																	62891163		1858	4295	6153	SO:0001583	missense	374819					integral to membrane		g.chr17:62891163G>C	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.2213C>G	17.37:g.62891163G>C	ENSP00000464535:p.Ser738Cys					LRRC37A3_uc010wqg.1_Intron|LRRC37A3_uc010wqf.1_Intron|LRRC37A3_uc010dek.1_5'Flank	p.S738C	NM_199340	NP_955372	O60309	L37A3_HUMAN			3	2744	-			738			Extracellular (Potential).		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	c.2213C>G	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	11.24	1.581358	0.28180	.	.	ENSG00000176809	ENST00000319651	T	0.61040	0.14	1.77	1.77	0.24775	.	.	.	.	.	T	0.52208	0.1720	M	0.67569	2.06	0.09310	N	1	P	0.41710	0.76	B	0.40199	0.322	T	0.43442	-0.9391	9	0.39692	T	0.17	.	7.0707	0.25177	0.0:0.0:1.0:0.0	.	738	O60309	L37A3_HUMAN	C	738	ENSP00000325713:S738C	ENSP00000325713:S738C	S	-	2	0	LRRC37A3	60321625	0.010000	0.17322	0.014000	0.15608	0.053000	0.15095	1.521000	0.35910	1.303000	0.44873	0.162000	0.16502	TCT		0.512	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1		NM_199340		55	324	0	0	0	0.00361	0	55	324		
SLC25A19	60386	broad.mit.edu	37	17	73282503	73282503	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:73282503G>C	ENST00000402418.3	-	2	1079	c.170C>G	c.(169-171)gCa>gGa	p.A57G	SLC25A19_ENST00000442286.2_Missense_Mutation_p.A57G|SLC25A19_ENST00000375261.4_Missense_Mutation_p.A57G|SLC25A19_ENST00000416858.2_Missense_Mutation_p.A57G|SLC25A19_ENST00000320362.3_Missense_Mutation_p.A57G|SLC25A19_ENST00000580994.1_Missense_Mutation_p.A57G			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	57					deoxynucleotide transport (GO:0030302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	deoxynucleotide transmembrane transporter activity (GO:0030233)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			ATGGTACTTTGCGCTGGGGTC	0.537																																						uc002jns.3		NaN																	0				ovary(1)	1						c.(169-171)GCA>GGA		solute carrier family 25, member 19							78.0	79.0	79.0					17																	73282503		2203	4300	6503	SO:0001583	missense	60386					integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity	g.chr17:73282503G>C		CCDS11720.1	17q25.1	2013-05-22	2007-03-08		ENSG00000125454	ENSG00000125454		"""Solute carriers"""	14409	protein-coding gene	gene with protein product		606521	"""solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19"", ""microcephaly, Amish"""	MCPHA		11474176, 11226231, 19798730	Standard	NM_021734		Approved	DNC, MUP1, TPC	uc002jnw.4	Q9HC21		ENST00000402418.3:c.170C>G	17.37:g.73282503G>C	ENSP00000385312:p.Ala57Gly					SLC25A19_uc010dge.2_Missense_Mutation_p.A57G|SLC25A19_uc002jnv.3_Missense_Mutation_p.A57G|SLC25A19_uc002jnu.3_Missense_Mutation_p.A57G|SLC25A19_uc002jnw.3_Missense_Mutation_p.A57G|SLC25A19_uc002jnt.3_Missense_Mutation_p.A57G	p.A57G	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)		2	1080	-	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		57			Solcar 1.		E9PF74|Q6V9R7	Missense_Mutation	SNP	ENST00000402418.3	37	c.170C>G	CCDS11720.1	.	.	.	.	.	.	.	.	.	.	G	9.671	1.146727	0.21288	.	.	ENSG00000125454	ENST00000416858;ENST00000442286;ENST00000320362;ENST00000402418;ENST00000375261	T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25	5.95	5.95	0.96441	Mitochondrial carrier domain (2);	0.048822	0.85682	D	0.000000	T	0.65616	0.2708	N	0.20766	0.605	0.37915	D	0.931513	B;B	0.16396	0.017;0.008	B;B	0.21708	0.036;0.035	T	0.61946	-0.6958	10	0.20046	T	0.44	-13.7902	15.4868	0.75573	0.0:0.138:0.862:0.0	.	57;57	E9PF74;Q9HC21	.;TPC_HUMAN	G	57	ENSP00000397818:A57G;ENSP00000402202:A57G;ENSP00000319574:A57G;ENSP00000385312:A57G;ENSP00000364410:A57G	ENSP00000319574:A57G	A	-	2	0	SLC25A19	70794098	1.000000	0.71417	0.645000	0.29479	0.121000	0.20230	5.546000	0.67243	2.824000	0.97209	0.655000	0.94253	GCA		0.537	SLC25A19-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447282.1		NM_021734		15	199	0	0	0	0.00245	0	15	199		
CASKIN2	57513	broad.mit.edu	37	17	73498040	73498040	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:73498040G>C	ENST00000321617.3	-	18	3701	c.3115C>G	c.(3115-3117)Ccc>Gcc	p.P1039A	CASKIN2_ENST00000433559.2_Missense_Mutation_p.P957A	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1039	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGGGCTCGGGCTGGGGAAGG	0.697																																						uc002joc.2		NaN																	0				pancreas(1)	1						c.(3115-3117)CCC>GCC		cask-interacting protein 2 isoform a							40.0	53.0	49.0					17																	73498040		2202	4299	6501	SO:0001583	missense	57513					cytoplasm		g.chr17:73498040G>C	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.3115C>G	17.37:g.73498040G>C	ENSP00000325355:p.Pro1039Ala					CASKIN2_uc010wsc.1_Missense_Mutation_p.P957A	p.P1039A	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	3665	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		1039			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.3115C>G	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	G	9.857	1.195135	0.22037	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.71698	-0.59;-0.45	5.0	1.8	0.24995	.	1.583400	0.03792	N	0.263018	T	0.51787	0.1695	N	0.14661	0.345	0.21220	N	0.99975	B	0.02656	0.0	B	0.04013	0.001	T	0.33574	-0.9863	10	0.33141	T	0.24	.	2.768	0.05325	0.1037:0.205:0.5133:0.1779	.	1039	Q8WXE0	CSKI2_HUMAN	A	1039;957	ENSP00000325355:P1039A;ENSP00000406963:P957A	ENSP00000325355:P1039A	P	-	1	0	CASKIN2	71009635	0.018000	0.18449	0.001000	0.08648	0.004000	0.04260	0.477000	0.22196	0.248000	0.21435	-0.293000	0.09583	CCC		0.697	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1		NM_020753		11	148	0	0	0	0.008291	0	11	148		
EXOC7	23265	broad.mit.edu	37	17	74097809	74097809	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:74097809T>C	ENST00000335146.7	-	3	315	c.262A>G	c.(262-264)Atc>Gtc	p.I88V	EXOC7_ENST00000607838.1_Missense_Mutation_p.I88V|EXOC7_ENST00000589210.1_Missense_Mutation_p.I88V|EXOC7_ENST00000411744.2_Missense_Mutation_p.I88V|EXOC7_ENST00000406660.3_Missense_Mutation_p.I88V|EXOC7_ENST00000467929.2_Missense_Mutation_p.I47V|EXOC7_ENST00000405575.4_Missense_Mutation_p.I88V|EXOC7_ENST00000332065.5_Missense_Mutation_p.I88V			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	88					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TAGTAGCTGATGACATGGTCC	0.547																																						uc002jqs.2		NaN																	0					0						c.(262-264)ATC>GTC		exocyst complex component 7 isoform 4							148.0	124.0	132.0					17																	74097809		2203	4300	6503	SO:0001583	missense	23265				exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	g.chr17:74097809T>C	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.262A>G	17.37:g.74097809T>C	ENSP00000334100:p.Ile88Val					EXOC7_uc010dgv.1_Missense_Mutation_p.I35V|EXOC7_uc002jqq.2_Missense_Mutation_p.I88V|EXOC7_uc010wsw.1_Missense_Mutation_p.I88V|EXOC7_uc010wsx.1_Missense_Mutation_p.I88V|EXOC7_uc002jqr.2_Missense_Mutation_p.I88V|EXOC7_uc010wsv.1_Missense_Mutation_p.I47V|EXOC7_uc002jqu.2_Missense_Mutation_p.I88V|EXOC7_uc002jqv.2_Missense_Mutation_p.I88V	p.I88V	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		3	357	-			88					B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	ENST00000335146.7	37	c.262A>G	CCDS45782.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.974282	0.74246	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744;ENST00000405068;ENST00000442951;ENST00000406660	.	.	.	5.91	5.91	0.95273	Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70937	0.3281	L	0.55213	1.73	0.80722	D	1	B;B;B;B;P;P;B;P;B	0.45672	0.012;0.101;0.027;0.044;0.763;0.864;0.048;0.708;0.08	B;B;B;B;B;P;B;B;B	0.58210	0.02;0.033;0.022;0.028;0.355;0.835;0.03;0.227;0.06	T	0.65224	-0.6220	9	0.15066	T	0.55	-26.3027	16.3483	0.83171	0.0:0.0:0.0:1.0	.	88;88;47;47;88;88;88;88;88	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;B5MCY9;Q9UPT5-4;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;.;.;EXOC7_HUMAN;.;.	V	88;88;88;88;88;47;88;88;35;88	.	ENSP00000333806:I88V	I	-	1	0	EXOC7	71609404	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.566000	0.82347	2.254000	0.74563	0.533000	0.62120	ATC		0.547	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2		NM_015219		31	285	0	0	0	0.002836	0	31	285		
MGAT5B	146664	broad.mit.edu	37	17	74936492	74936492	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:74936492C>T	ENST00000569840.2	+	14	2167	c.1593C>T	c.(1591-1593)atC>atT	p.I531I	MGAT5B_ENST00000428789.2_Silent_p.I540I|MGAT5B_ENST00000301618.4_Silent_p.I529I	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	531					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCTCTTCATCGGGTTTGGCT	0.662																																						uc002jti.2		NaN																	0				ovary(2)|skin(1)	3						c.(1618-1620)ATC>ATT		N-acetylglucosaminyltranferase VB isoform 2							78.0	73.0	75.0					17																	74936492		2203	4300	6503	SO:0001819	synonymous_variant	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74936492C>T	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1593C>T	17.37:g.74936492C>T						MGAT5B_uc002jth.2_Silent_p.I529I	p.I540I	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN			12	1723	+			531			Lumenal (Potential).		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Silent	SNP	ENST00000569840.2	37	c.1620C>T	CCDS59299.1																																																																																				0.662	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2		NM_144677		85	180	0	0	0	0.00361	0	85	180		
SEC14L1	6397	broad.mit.edu	37	17	75189528	75189528	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:75189528C>T	ENST00000413679.2	+	6	674	c.371C>T	c.(370-372)aCc>aTc	p.T124I	SEC14L1_ENST00000436233.4_Missense_Mutation_p.T124I|SEC14L1_ENST00000591437.1_Missense_Mutation_p.T90I|SEC14L1_ENST00000392476.2_Missense_Mutation_p.T124I|SEC14L1_ENST00000585618.1_Missense_Mutation_p.T124I|SEC14L1_ENST00000430767.4_Missense_Mutation_p.T124I|SEC14L1_ENST00000431431.2_Missense_Mutation_p.T90I|SEC14L1_ENST00000443798.4_Missense_Mutation_p.T124I	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	124	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GAAGATTGGACCTGTTTTGAA	0.358																																						uc002jto.2		NaN																	0				ovary(2)	2						c.(370-372)ACC>ATC		SEC14 (S. cerevisiae)-like 1 isoform a							114.0	101.0	105.0					17																	75189528		2203	4300	6503	SO:0001583	missense	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75189528C>T	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.371C>T	17.37:g.75189528C>T	ENSP00000394716:p.Thr124Ile					SEC14L1_uc010dhc.2_Missense_Mutation_p.T124I|SEC14L1_uc010wth.1_Missense_Mutation_p.T124I|SEC14L1_uc002jtm.2_Missense_Mutation_p.T124I|SEC14L1_uc010wti.1_Missense_Mutation_p.T90I	p.T124I	NM_003003	NP_002994	Q92503	S14L1_HUMAN			6	638	+			124			PRELI/MSF1.		A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	37	c.371C>T	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733493	0.89482	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08	4.88	4.88	0.63580	PRELI/MSF1 (2);	0.000000	0.85682	D	0.000000	T	0.70753	0.3260	M	0.88842	2.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.77864	-0.2429	10	0.87932	D	0	-44.2301	17.393	0.87437	0.0:1.0:0.0:0.0	.	124;124	Q92503-2;Q92503	.;S14L1_HUMAN	I	124;124;124;124;124;90	ENSP00000376268:T124I;ENSP00000406030:T124I;ENSP00000390392:T124I;ENSP00000408169:T124I;ENSP00000394716:T124I;ENSP00000389838:T90I	ENSP00000376268:T124I	T	+	2	0	SEC14L1	72701123	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.352000	0.79404	2.415000	0.81967	0.650000	0.86243	ACC		0.358	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1		NM_003003		6	92	0	0	0	0.001168	0	6	92		
CBX4	8535	broad.mit.edu	37	17	77808858	77808858	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:77808858G>C	ENST00000269397.4	-	5	760	c.583C>G	c.(583-585)Ccc>Gcc	p.P195A	CBX4_ENST00000448310.1_3'UTR	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	195	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CACTTGTCGGGCGGGTGGCTC	0.711											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002jxe.2		NaN																	0				skin(2)	2						c.(583-585)CCC>GCC		chromobox homolog 4							31.0	35.0	34.0					17																	77808858		2197	4296	6493	SO:0001583	missense	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77808858G>C	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.583C>G	17.37:g.77808858G>C	ENSP00000269397:p.Pro195Ala		OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1178		p.P195A	NM_003655	NP_003646	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	746	-			195			Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	Missense_Mutation	SNP	ENST00000269397.4	37	c.583C>G	CCDS32758.1	.	.	.	.	.	.	.	.	.	.	g	13.98	2.397989	0.42512	.	.	ENSG00000141582	ENST00000269397	.	.	.	3.79	3.79	0.43588	.	0.362636	0.26156	U	0.026017	T	0.41789	0.1174	L	0.47716	1.5	0.80722	D	1	B	0.26081	0.141	B	0.17722	0.019	T	0.17992	-1.0351	9	0.10636	T	0.68	-4.6425	6.7205	0.23328	0.0992:0.1814:0.7194:0.0	.	195	O00257	CBX4_HUMAN	A	195	.	ENSP00000269397:P195A	P	-	1	0	CBX4	75423453	1.000000	0.71417	0.961000	0.40146	0.643000	0.38383	4.352000	0.59404	1.674000	0.50907	0.306000	0.20318	CCC		0.711	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1		NM_003655		19	111	0	0	0	0.007413	0	19	111		
CARD14	79092	broad.mit.edu	37	17	78162187	78162187	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:78162187G>C	ENST00000573882.1	+	7	1223	c.687G>C	c.(685-687)ctG>ctC	p.L229L	CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000344227.2_Silent_p.L229L|CARD14_ENST00000392434.2_5'UTR|CARD14_ENST00000570421.1_Silent_p.L229L			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	229					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGTATCTACTGAAGCAGGAGC	0.587																																						uc002jxw.1		NaN																	0				ovary(4)|skin(1)	5						c.(685-687)CTG>CTC		caspase recruitment domain protein 14 isoform 1							44.0	42.0	43.0					17																	78162187		2203	4300	6503	SO:0001819	synonymous_variant	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78162187G>C	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.687G>C	17.37:g.78162187G>C						CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Silent_p.L229L|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_5'UTR|CARD14_uc010dhu.1_Silent_p.L27L	p.L229L	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		5	882	+	all_neural(118;0.0952)		229			Potential.		B8QQJ3|Q9BVB5	Silent	SNP	ENST00000573882.1	37	c.687G>C	CCDS11768.1																																																																																				0.587	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1				36	43	0	0	0	0.004289	0	36	43		
SGSH	6448	broad.mit.edu	37	17	78195377	78195377	+	5'Flank	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:78195377G>C	ENST00000326317.6	-	0	0				SLC26A11_ENST00000411502.3_Silent_p.T6T|SLC26A11_ENST00000571602.1_3'UTR|SGSH_ENST00000534910.1_5'Flank|SLC26A11_ENST00000546047.2_Silent_p.T6T|SLC26A11_ENST00000572725.1_Silent_p.T6T|SLC26A11_ENST00000361193.3_Silent_p.T6T|SGSH_ENST00000572208.1_5'Flank|SGSH_ENST00000570923.1_5'Flank	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTTCGGTGACGGCGCTGGGTC	0.687																																						uc002jyb.1		NaN																	0					0						c.(16-18)ACG>ACC		solute carrier family 26, member 11							16.0	16.0	16.0					17																	78195377		2202	4296	6498	SO:0001631	upstream_gene_variant	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78195377G>C	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688			17.37:g.78195377G>C	Exception_encountered					SGSH_uc002jxz.3_5'Flank|SGSH_uc002jya.3_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.1_Silent_p.T6T|SLC26A11_uc002jyd.1_Silent_p.T6T|SLC26A11_uc010dhv.1_Silent_p.T6T	p.T6T	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		3	287	+	all_neural(118;0.0538)		6			Extracellular (Potential).		A8K5E2	Silent	SNP	ENST00000326317.6	37	c.18G>C	CCDS11770.1																																																																																				0.687	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1		NM_000199		22	20	0	0	0	0.012319	0	22	20		
CCDC57	284001	broad.mit.edu	37	17	80115782	80115782	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:80115782G>A	ENST00000389641.4	-	14	2119	c.2083C>T	c.(2083-2085)Ctt>Ttt	p.L695F	RP11-1376P16.1_ENST00000582774.1_RNA|CCDC57_ENST00000392343.3_Missense_Mutation_p.L695F|CCDC57_ENST00000392347.1_Missense_Mutation_p.L695F|CCDC57_ENST00000327026.3_5'UTR			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	695										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TCACGGGGAAGCTCACGCTGG	0.642																																						uc002kdz.1		NaN																	0				ovary(2)	2						c.(2083-2085)CTT>TTT		coiled-coil domain containing 57							19.0	20.0	19.0					17																	80115782		1916	4108	6024	SO:0001583	missense	284001							g.chr17:80115782G>A	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.2083C>T	17.37:g.80115782G>A	ENSP00000374292:p.Leu695Phe					CCDC57_uc002kdx.1_Missense_Mutation_p.L695F|CCDC57_uc010dik.1_Missense_Mutation_p.L203F	p.L695F	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		15	2438	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		695					A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37	c.2083C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.42|17.42	3.385403|3.385403	0.61956|0.61956	.|.	.|.	ENSG00000176155|ENSG00000176155	ENST00000419322|ENST00000389641;ENST00000392347;ENST00000327026;ENST00000392343	.|T;T;T	.|0.39997	.|2.33;2.33;1.05	3.19|3.19	2.14|2.14	0.27477|0.27477	.|.	.|0.199088	.|0.24901	.|N	.|0.034697	T|T	0.53367|0.53367	0.1792|0.1792	L|L	0.60455|0.60455	1.87|1.87	0.22675|0.22675	N|N	0.998864|0.998864	.|D;D	.|0.67145	.|0.996;0.996	.|D;D	.|0.67725	.|0.953;0.93	T|T	0.38351|0.38351	-0.9665|-0.9665	5|10	.|0.66056	.|D	.|0.02	-6.0122|-6.0122	7.9549|7.9549	0.30035|0.30035	0.0:0.2551:0.7449:0.0|0.0:0.2551:0.7449:0.0	.|.	.|695;695	.|Q2TAC2-2;Q2TAC2	.|.;CCD57_HUMAN	V|F	40|695;695;203;695	.|ENSP00000374292:L695F;ENSP00000376158:L695F;ENSP00000376154:L695F	.|ENSP00000315967:L203F	A|L	-|-	2|1	0|0	CCDC57|CCDC57	77709071|77709071	0.391000|0.391000	0.25221|0.25221	0.061000|0.061000	0.19648|0.19648	0.546000|0.546000	0.35178|0.35178	1.218000|1.218000	0.32467|0.32467	0.597000|0.597000	0.29811|0.29811	0.462000|0.462000	0.41574|0.41574	GCT|CTT		0.642	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3		NM_198082		3	18	0	0	0	0.004672	0	3	18		
EMILIN2	84034	broad.mit.edu	37	18	2891874	2891874	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr18:2891874G>A	ENST00000254528.3	+	4	1908	c.1749G>A	c.(1747-1749)ttG>ttA	p.L583L		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	583					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TGCACCTTTTGAAATCTCTCA	0.458																																						uc002kln.2		NaN																	0				skin(2)|ovary(1)	3						c.(1747-1749)TTG>TTA		elastin microfibril interfacer 2 precursor							55.0	53.0	54.0					18																	2891874		2203	4300	6503	SO:0001819	synonymous_variant	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2891874G>A	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1749G>A	18.37:g.2891874G>A							p.L583L	NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	1908	+			583			Potential.		B2RMY3|Q8NBH3|Q96JQ4	Silent	SNP	ENST00000254528.3	37	c.1749G>A	CCDS11828.1																																																																																				0.458	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2		NM_032048		16	174	0	0	0	0.006122	0	16	174		
LAMA1	284217	broad.mit.edu	37	18	6986291	6986291	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr18:6986291C>T	ENST00000389658.3	-	37	5317	c.5224G>A	c.(5224-5226)Gaa>Aaa	p.E1742K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1742	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ACCTCCAATTCTTCCAGCGGC	0.423																																						uc002knm.2		NaN																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(5224-5226)GAA>AAA		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						107.0	98.0	101.0					18																	6986291		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6986291C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5224G>A	18.37:g.6986291C>T	ENSP00000374309:p.Glu1742Lys					LAMA1_uc010wzj.1_Missense_Mutation_p.E1218K	p.E1742K	NM_005559	NP_005550	P25391	LAMA1_HUMAN			37	5318	-		Colorectal(10;0.172)	1742			Domain II and I.|Potential.			Missense_Mutation	SNP	ENST00000389658.3	37	c.5224G>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	c	3.100	-0.184904	0.06340	.	.	ENSG00000101680	ENST00000389658	T	0.12984	2.63	5.5	-1.24	0.09435	Laminin I (1);	0.953625	0.08735	N	0.901425	T	0.08582	0.0213	L	0.33485	1.01	0.21499	N	0.999669	B	0.13145	0.007	B	0.14578	0.011	T	0.40515	-0.9559	10	0.29301	T	0.29	.	2.9241	0.05778	0.1129:0.4716:0.2195:0.196	.	1742	P25391	LAMA1_HUMAN	K	1742	ENSP00000374309:E1742K	ENSP00000374309:E1742K	E	-	1	0	LAMA1	6976291	1.000000	0.71417	0.039000	0.18376	0.035000	0.12851	1.993000	0.40747	-0.134000	0.11516	-0.181000	0.13052	GAA		0.423	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1		NM_005559		31	276	0	0	0	0.009535	0	31	276		
ANKRD12	23253	broad.mit.edu	37	18	9255911	9255912	+	Missense_Mutation	DNP	TA	TA	AG			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr18:9255911_9255912TA>AG	ENST00000262126.4	+	9	2886_2887	c.2646_2647TA>AG	c.(2644-2649)caTAaa>caAGaa	p.882_883HK>QE	ANKRD12_ENST00000383440.2_Missense_Mutation_p.859_860HK>QE|ANKRD12_ENST00000400020.3_Missense_Mutation_p.859_860HK>QE	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	882						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AAAAATGCCATAAAGAAGGTGA	0.332																																						uc002knv.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2644-2649)CATAAA>CAAGAA		ankyrin repeat domain 12 isoform 1																																				SO:0001583	missense	23253					nucleus		g.chr18:9255911_9255912TA>AG	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	Exception_encountered	18.37:g.9255911_9255912delinsAG	ENSP00000262126:p.H882_K883delinsQE					ANKRD12_uc002knw.2_Missense_Mutation_p.859_860HK>QE|ANKRD12_uc002knx.2_Missense_Mutation_p.859_860HK>QE|ANKRD12_uc010dkx.1_Missense_Mutation_p.589_590HK>QE	p.882_883HK>QE	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN			9	2903_2904	+			882_883					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	DNP	ENST00000262126.4	37	c.2646_2647TA>AG	CCDS11843.1																																																																																				0.332	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2		NM_015208		5	51	0	0	0	0.004672	0	5	51		
MUM1	84939	broad.mit.edu	37	19	1370839	1370839	+	Missense_Mutation	SNP	A	A	G	rs201308121		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:1370839A>G	ENST00000415183.3	+	11	1777	c.1751A>G	c.(1750-1752)aAg>aGg	p.K584R	MUM1_ENST00000591806.1_Missense_Mutation_p.K584R|MUM1_ENST00000344663.3_Missense_Mutation_p.K584R|MUM1_ENST00000311401.5_Missense_Mutation_p.K515R			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	583					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGAAGGCCAAGGGCGCGGAG	0.662													A|||	1	0.000199681	0.0	0.0	5008	,	,		15536	0.001		0.0	False		,,,				2504	0.0					uc010xgm.1		NaN																	0					0						c.(1747-1749)AAG>AGG		SubName: Full=MUM1 protein;							27.0	25.0	26.0					19																	1370839		2175	4262	6437	SO:0001583	missense	84939				chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding	g.chr19:1370839A>G	AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.1751A>G	19.37:g.1370839A>G	ENSP00000394925:p.Lys584Arg					MUM1_uc010dsi.2_Missense_Mutation_p.K515R|MUM1_uc002lrz.2_Missense_Mutation_p.K584R|MUM1_uc002lsb.2_Missense_Mutation_p.K515R	p.K583R			Q2TAK8	MUM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1817	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	583					A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	ENST00000415183.3	37	c.1748A>G		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	9.222	1.033735	0.19590	.	.	ENSG00000160953	ENST00000344663;ENST00000311401;ENST00000415183	T;T;T	0.47528	0.84;0.84;0.84	4.82	-0.00539	0.14018	.	0.692902	0.13708	N	0.368311	T	0.28797	0.0714	N	0.17564	0.495	0.24793	N	0.992746	B;B;B;B	0.23591	0.015;0.015;0.067;0.088	B;B;B;B	0.21708	0.01;0.017;0.034;0.036	T	0.16158	-1.0412	10	0.31617	T	0.26	.	10.2695	0.43475	0.8624:0.0:0.1376:0.0	.	584;584;515;583	B7ZLY8;D6W5Y8;Q2TAK8-2;Q2TAK8	.;.;.;MUM1_HUMAN	R	584;515;584	ENSP00000345789:K584R;ENSP00000309135:K515R;ENSP00000394925:K584R	ENSP00000309135:K515R	K	+	2	0	MUM1	1321839	0.067000	0.21026	0.253000	0.24343	0.606000	0.37113	1.291000	0.33330	-0.240000	0.09696	-0.464000	0.05259	AAG		0.662	MUM1-016	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000449510.1		NM_032853		7	7	0	0	0	0.00308	0	7	7		
C19orf25	148223	broad.mit.edu	37	19	1482190	1482190	+	5'Flank	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:1482190G>T	ENST00000436106.2	-	0	0				C19orf25_ENST00000588871.1_5'Flank|C19orf25_ENST00000588427.1_5'Flank|PCSK4_ENST00000300954.5_Silent_p.A612A|C19orf25_ENST00000427685.2_5'Flank|C19orf25_ENST00000591027.1_5'Flank|CTB-25B13.6_ENST00000585643.1_RNA			Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25														Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGATGTAGGCGGGGCCGT	0.716																																						uc002ltb.1		NaN																	0					0						c.(1834-1836)GCC>GCA		proprotein convertase subtilisin/kexin type 4							6.0	4.0	5.0					19																	1482190		1932	3788	5720	SO:0001631	upstream_gene_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1482190G>T	AK075267	CCDS45898.1	19p13.3	2012-10-24			ENSG00000119559	ENSG00000119559			26711	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_152482		Approved	FLJ36666	uc010dsk.3	Q9UFG5	OTTHUMG00000180092		19.37:g.1482190G>T	Exception_encountered					C19orf25_uc010xgn.1_5'Flank|C19orf25_uc010dsk.2_5'Flank|C19orf25_uc010xgo.1_5'Flank|PCSK4_uc002lsz.2_Silent_p.A99A|PCSK4_uc002lta.2_3'UTR	p.A612A	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	15	1898	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	612					B3KQN6|Q8N9R7|Q8WV94	Silent	SNP	ENST00000436106.2	37	c.1836C>A	CCDS45898.1																																																																																				0.716	C19orf25-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449694.1		NM_152482		2	3	1	0	6.4e-05	0.004672	6.62005e-05	2	3		
PCSK4	54760	broad.mit.edu	37	19	1482922	1482922	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:1482922C>G	ENST00000300954.5	-	13	1730	c.1669G>C	c.(1669-1671)Gag>Cag	p.E557Q	CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTTGTTCTCTAGGCCCAGG	0.627																																						uc002ltb.1		NaN																	0					0						c.(1669-1671)GAG>CAG		proprotein convertase subtilisin/kexin type 4							53.0	49.0	50.0					19																	1482922		2202	4299	6501	SO:0001583	missense	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1482922C>G	AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.1669G>C	19.37:g.1482922C>G	ENSP00000300954:p.Glu557Gln					PCSK4_uc002lsz.2_Missense_Mutation_p.E44Q|PCSK4_uc002lta.2_Intron	p.E557Q	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1731	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	557						Missense_Mutation	SNP	ENST00000300954.5	37	c.1669G>C	CCDS12069.2	.	.	.	.	.	.	.	.	.	.	c	10.02	1.235091	0.22626	.	.	ENSG00000115257	ENST00000300954	T	0.77098	-1.07	3.34	2.24	0.28232	Proprotein convertase, P (1);Galactose-binding domain-like (1);	1.188320	0.06396	N	0.717909	T	0.68805	0.3041	L	0.45228	1.405	0.27668	N	0.946849	P	0.37914	0.611	B	0.32677	0.15	T	0.53570	-0.8420	10	0.25106	T	0.35	.	10.4638	0.44596	0.1967:0.8033:0.0:0.0	.	557	Q6UW60	PCSK4_HUMAN	Q	557	ENSP00000300954:E557Q	ENSP00000300954:E557Q	E	-	1	0	PCSK4	1433922	.	.	0.994000	0.49952	0.432000	0.31715	.	.	0.484000	0.27630	0.282000	0.19409	GAG		0.627	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1		NM_017573		16	34	0	0	0	0.00499	0	16	34		
REXO1	57455	broad.mit.edu	37	19	1827792	1827792	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:1827792G>A	ENST00000170168.4	-	2	1090	c.996C>T	c.(994-996)ggC>ggT	p.G332G	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	332						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGCAGGCCGCCCCCCTCGG	0.731																																						uc002lua.3		NaN																	0					0						c.(994-996)GGC>GGT		transcription elongation factor B polypeptide 3							13.0	15.0	14.0					19																	1827792		2183	4271	6454	SO:0001819	synonymous_variant	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1827792G>A	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.996C>T	19.37:g.1827792G>A						REXO1_uc010dsr.1_Silent_p.G286G	p.G332G	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1091	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	332					Q9ULT2	Silent	SNP	ENST00000170168.4	37	c.996C>T	CCDS32866.1																																																																																				0.731	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1		NM_020695		8	8	0	0	0	0.006214	0	8	8		
AP3D1	8943	broad.mit.edu	37	19	2102196	2102196	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:2102196C>T	ENST00000345016.5	-	30	3669	c.3438G>A	c.(3436-3438)atG>atA	p.M1146I	AP3D1_ENST00000355272.6_Missense_Mutation_p.M1208I|AP3D1_ENST00000350812.6_Missense_Mutation_p.M977I|AP3D1_ENST00000356926.4_Missense_Mutation_p.M1105I	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	1146					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTCGCCTTCATCTCTTCTA	0.572																																						uc002luz.2		NaN																	0					0						c.(3436-3438)ATG>ATA		adaptor-related protein complex 3, delta 1							127.0	134.0	131.0					19																	2102196		2046	4193	6239	SO:0001583	missense	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2102196C>T	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.3438G>A	19.37:g.2102196C>T	ENSP00000344055:p.Met1146Ile					AP3D1_uc010dsv.2_Missense_Mutation_p.M236I|AP3D1_uc002luy.2_Missense_Mutation_p.M1105I|AP3D1_uc002lva.2_Missense_Mutation_p.M1208I	p.M1146I	NM_003938	NP_003929	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	30	3661	-		Hepatocellular(1079;0.137)	1146					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.3438G>A	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	C	2.924	-0.222557	0.06061	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.13307	2.6;3.14;3.09;2.65	4.41	4.41	0.53225	.	0.053511	0.85682	D	0.000000	T	0.05593	0.0147	N	0.03209	-0.39	0.40337	D	0.978999	B;B;B;B	0.09022	0.001;0.002;0.0;0.0	B;B;B;B	0.12156	0.002;0.007;0.001;0.001	T	0.17319	-1.0373	10	0.02654	T	1	-38.5971	14.1817	0.65578	0.0:1.0:0.0:0.0	.	977;1208;1146;1105	E7EMM2;O14617-5;O14617;G5E988	.;.;AP3D1_HUMAN;.	I	1105;1146;1208;1014;977	ENSP00000349398:M1105I;ENSP00000344055:M1146I;ENSP00000347416:M1208I;ENSP00000342321:M977I	ENSP00000341579:M1014I	M	-	3	0	AP3D1	2053196	1.000000	0.71417	0.942000	0.38095	0.251000	0.25915	1.945000	0.40273	2.016000	0.59253	0.561000	0.74099	ATG		0.572	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1				146	158	0	0	0	0.00361	0	146	158		
ZNF555	148254	broad.mit.edu	37	19	2852510	2852510	+	Silent	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:2852510A>G	ENST00000334241.4	+	4	585	c.447A>G	c.(445-447)ggA>ggG	p.G149G	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Silent_p.G148G	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	149					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACACGTACGGAAAAGTCTTCA	0.458																																						uc002lwo.2		NaN																	0				ovary(1)	1						c.(445-447)GGA>GGG		zinc finger protein 555							136.0	123.0	127.0					19																	2852510		2203	4300	6503	SO:0001819	synonymous_variant	148254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2852510A>G	AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.447A>G	19.37:g.2852510A>G						ZNF555_uc002lwn.3_Silent_p.G148G	p.G149G	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	536	+			149					A8KA89|K7EQM2|Q8NA46|Q96MP1	Silent	SNP	ENST00000334241.4	37	c.447A>G	CCDS12096.1																																																																																				0.458	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3		NM_152791		11	120	0	0	0	0.001368	0	11	120		
PIAS4	51588	broad.mit.edu	37	19	4037409	4037409	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:4037409G>A	ENST00000262971.2	+	10	1295	c.1180G>A	c.(1180-1182)Gac>Aac	p.D394N		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	394					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGGACGCCGACGAGATCGA	0.701																																						uc002lzg.2		NaN																	0				pancreas(1)	1						c.(1180-1182)GAC>AAC		protein inhibitor of activated STAT, 4							28.0	29.0	29.0					19																	4037409		2202	4299	6501	SO:0001583	missense	51588				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chr19:4037409G>A	AF077952	CCDS12118.1	19p13.3	2011-10-11						"""Zinc fingers, MIZ-type"""	17002	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 6"""	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.1180G>A	19.37:g.4037409G>A	ENSP00000262971:p.Asp394Asn						p.D394N	NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1190	+			394					O75926|Q96G19|Q9UN16	Missense_Mutation	SNP	ENST00000262971.2	37	c.1180G>A	CCDS12118.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995830	0.74703	.	.	ENSG00000105229	ENST00000262971	T	0.34072	1.38	4.35	3.31	0.37934	.	0.053466	0.64402	D	0.000001	T	0.25975	0.0633	L	0.47716	1.5	0.43175	D	0.994981	B	0.33379	0.41	B	0.19391	0.025	T	0.05468	-1.0883	10	0.27082	T	0.32	-28.2728	10.8398	0.46708	0.095:0.0:0.905:0.0	.	394	Q8N2W9	PIAS4_HUMAN	N	394	ENSP00000262971:D394N	ENSP00000262971:D394N	D	+	1	0	PIAS4	3988409	1.000000	0.71417	0.338000	0.25549	0.906000	0.53458	9.608000	0.98331	0.831000	0.34780	0.472000	0.43445	GAC		0.701	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1		NM_015897		14	32	0	0	0	0.003163	0	14	32		
MUC16	94025	broad.mit.edu	37	19	9021060	9021060	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:9021060C>A	ENST00000397910.4	-	19	37466	c.37263G>T	c.(37261-37263)caG>caT	p.Q12421H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12423	SEA 3. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCACCAGACCCTGCAGGACCC	0.547																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(37261-37263)CAG>CAT		mucin 16							138.0	116.0	123.0					19																	9021060		1967	4145	6112	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9021060C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37263G>T	19.37:g.9021060C>A	ENSP00000381008:p.Gln12421His						p.Q12421H	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			19	37467	-			12423			Extracellular (Potential).|SEA 3.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.37263G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	7.829	0.719432	0.15372	.	.	ENSG00000181143	ENST00000397910	T	0.23147	1.92	3.09	-4.8	0.03190	.	.	.	.	.	T	0.45498	0.1345	M	0.88031	2.925	.	.	.	D	0.65815	0.995	D	0.70935	0.971	T	0.46843	-0.9162	8	0.87932	D	0	.	2.8024	0.05418	0.3328:0.3262:0.0:0.341	.	12421	B5ME49	.	H	12421	ENSP00000381008:Q12421H	ENSP00000381008:Q12421H	Q	-	3	2	MUC16	8882060	0.000000	0.05858	0.000000	0.03702	0.211000	0.24417	-1.495000	0.02294	-1.071000	0.03145	0.455000	0.32223	CAG		0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		13	183	1	0	7.03913e-09	0.001368	7.59668e-09	13	183		
TNPO2	30000	broad.mit.edu	37	19	12817453	12817453	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:12817453T>C	ENST00000592287.1	-	13	1535	c.1427A>G	c.(1426-1428)aAg>aGg	p.K476R	TNPO2_ENST00000356861.5_Missense_Mutation_p.K476R|TNPO2_ENST00000441499.1_Missense_Mutation_p.K476R|TNPO2_ENST00000425528.1_Missense_Mutation_p.K476R|TNPO2_ENST00000588216.1_Missense_Mutation_p.K476R|TNPO2_ENST00000450764.2_Missense_Mutation_p.K476R|SNORD41_ENST00000386967.1_RNA	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	476					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CATCAGGGGCTTGAGGTGCAT	0.637																																						uc002muo.2		NaN																	0				ovary(1)	1						c.(1426-1428)AAG>AGG		transportin 2 (importin 3, karyopherin beta 2b)							46.0	49.0	48.0					19																	12817453		2186	4285	6471	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12817453T>C	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.1427A>G	19.37:g.12817453T>C	ENSP00000468434:p.Lys476Arg					TNPO2_uc002mup.2_Missense_Mutation_p.K568R|TNPO2_uc002muq.2_Missense_Mutation_p.K476R|TNPO2_uc002mur.2_Missense_Mutation_p.K476R|SNORD41_uc002mut.1_5'Flank	p.K476R	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN			13	1612	-			476			HEAT 8.		O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.1427A>G	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	T	17.18	3.322953	0.60634	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.15	5.15	0.70609	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69015	0.3064	M	0.81341	2.54	0.80722	D	1	B;B	0.15141	0.012;0.011	B;B	0.17098	0.017;0.008	T	0.68720	-0.5334	10	0.52906	T	0.07	-15.5569	13.9666	0.64213	0.0:0.0:0.0:1.0	.	640;476	Q4LE60;O14787	.;TNPO2_HUMAN	R	640;476;476;476;476;476;476	ENSP00000407182:K476R;ENSP00000389648:K476R;ENSP00000397379:K476R;ENSP00000349321:K476R	ENSP00000349321:K476R	K	-	2	0	TNPO2	12678453	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.671000	0.83941	1.951000	0.56629	0.533000	0.62120	AAG		0.637	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1		NM_013433		7	77	0	0	0	0.00308	0	7	77		
AKAP8L	26993	broad.mit.edu	37	19	15512114	15512114	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:15512114G>C	ENST00000397410.5	-	5	793	c.663C>G	c.(661-663)ctC>ctG	p.L221L	AKAP8L_ENST00000595465.2_Silent_p.L160L|AKAP8L_ENST00000595879.1_5'Flank	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	221						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TCTGGGAGAAGAGGGAGGGCA	0.672																																						uc002naw.1		NaN																	0				ovary(1)	1						c.(661-663)CTC>CTG		A kinase (PRKA) anchor protein 8-like							41.0	51.0	48.0					19																	15512114		1949	4137	6086	SO:0001819	synonymous_variant	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15512114G>C	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.663C>G	19.37:g.15512114G>C						AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Silent_p.L160L|AKAP8L_uc002nay.1_Silent_p.L221L|AKAP8L_uc002naz.2_Silent_p.L69L	p.L221L	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN			5	762	-			221					B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Silent	SNP	ENST00000397410.5	37	c.663C>G	CCDS46005.1																																																																																				0.672	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2		NM_014371		87	93	0	0	0	0.00361	0	87	93		
IL12RB1	3594	broad.mit.edu	37	19	18174753	18174753	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:18174753C>T	ENST00000600835.2	-	14	1849	c.1551G>A	c.(1549-1551)acG>acA	p.T517T	IL12RB1_ENST00000593993.2_Silent_p.T517T			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	517	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|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)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GCACCTGCACCGTGTAGGCTA	0.632																																						uc002nhw.1		NaN																	0				pancreas(1)	1						c.(1549-1551)ACG>ACA		interleukin 12 receptor, beta 1 isoform 1							32.0	36.0	35.0					19																	18174753		2058	4202	6260	SO:0001819	synonymous_variant	3594				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma 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	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18174753C>T	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1551G>A	19.37:g.18174753C>T						IL12RB1_uc010xqb.1_Silent_p.T517T|IL12RB1_uc002nhx.1_Silent_p.T557T	p.T517T	NM_005535	NP_005526	P42701	I12R1_HUMAN			13	1615	-			517			Extracellular (Potential).|Fibronectin type-III 5.		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP	ENST00000600835.2	37	c.1551G>A	CCDS54232.1																																																																																				0.632	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3				11	21	0	0	0	0.001368	0	11	21		
KIAA1683	80726	broad.mit.edu	37	19	18375916	18375916	+	Missense_Mutation	SNP	C	C	T	rs140540623		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:18375916C>T	ENST00000600328.3	-	3	2627	c.2434G>A	c.(2434-2436)Gtg>Atg	p.V812M	KIAA1683_ENST00000392413.4_Missense_Mutation_p.V812M|KIAA1683_ENST00000600359.3_Missense_Mutation_p.V766M			Q9H0B3	K1683_HUMAN	KIAA1683	812						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTCCCCGGCACGTGTCCGTGG	0.687													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16544	0.0		0.0	False		,,,				2504	0.0					uc002nin.2		NaN																	0				ovary(2)	2						c.(2434-2436)GTG>ATG		KIAA1683 isoform b		C	MET/VAL,MET/VAL,MET/VAL	4,4400	4.2+/-10.8	1,2,2199	65.0	67.0	67.0		2434,2296,2434	1.2	0.0	19	dbSNP_134	67	2,8594	1.2+/-3.3	0,2,4296	yes	missense,missense,missense	KIAA1683	NM_001145304.1,NM_001145305.1,NM_025249.3	21,21,21	1,4,6495	TT,TC,CC		0.0233,0.0908,0.0462	possibly-damaging,possibly-damaging,possibly-damaging	812/1368,766/1135,812/1181	18375916	6,12994	2202	4298	6500	SO:0001583	missense	80726					mitochondrion		g.chr19:18375916C>T	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2434G>A	19.37:g.18375916C>T	ENSP00000470780:p.Val812Met					KIAA1683_uc010ebn.2_Missense_Mutation_p.V812M|KIAA1683_uc010xqe.1_Missense_Mutation_p.V766M	p.V812M	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN			3	2650	-			812					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.2434G>A	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398899	0.42512	9.08E-4	2.33E-4	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000411671	T;T;T	0.04194	3.74;3.75;3.68	3.52	1.16	0.20824	.	0.806755	0.10135	N	0.711634	T	0.07818	0.0196	N	0.24115	0.695	0.09310	N	1	D;D	0.76494	0.999;0.996	P;P	0.60117	0.869;0.661	T	0.40156	-0.9578	10	0.59425	D	0.04	-0.7931	5.8388	0.18623	0.1902:0.6958:0.0:0.114	.	812;812	E9PDE0;Q9H0B3	.;K1683_HUMAN	M	812;812;766;426	ENSP00000376213:V812M;ENSP00000352774:V812M;ENSP00000404501:V766M	ENSP00000352774:V812M	V	-	1	0	KIAA1683	18236916	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-1.856000	0.01662	0.837000	0.34925	-0.373000	0.07131	GTG		0.687	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3				15	100	0	0	0	0.004007	0	15	100		
NCAN	1463	broad.mit.edu	37	19	19337300	19337300	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:19337300C>T	ENST00000252575.6	+	7	1177	c.1078C>T	c.(1078-1080)Cac>Tac	p.H360Y	NCAN_ENST00000538881.1_5'Flank	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	360					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CACAGCTCATCACCCCACGTC	0.562																																						uc002nlz.2		NaN																	0				ovary(4)	4						c.(1078-1080)CAC>TAC		chondroitin sulfate proteoglycan 3 precursor							78.0	72.0	74.0					19																	19337300		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19337300C>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1078C>T	19.37:g.19337300C>T	ENSP00000252575:p.His360Tyr					NCAN_uc010ecc.1_5'UTR	p.H360Y	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		7	1177	+			360					Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.1078C>T	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.721633	0.30503	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	T	0.09163	3.01	5.21	4.18	0.49190	C-type lectin fold (1);	0.173665	0.27912	N	0.017347	T	0.08846	0.0219	L	0.29908	0.895	0.80722	D	1	B	0.14805	0.011	B	0.11329	0.006	T	0.10382	-1.0632	10	0.59425	D	0.04	.	9.7547	0.40496	0.0:0.9041:0.0:0.0959	.	360	O14594	NCAN_HUMAN	Y	374;360	ENSP00000252575:H360Y	ENSP00000252575:H360Y	H	+	1	0	NCAN	19198300	0.997000	0.39634	0.996000	0.52242	0.919000	0.55068	1.858000	0.39408	1.197000	0.43143	0.555000	0.69702	CAC		0.562	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2		NM_004386		13	110	0	0	0	0.001368	0	13	110		
ZNF93	81931	broad.mit.edu	37	19	20045094	20045094	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:20045094G>A	ENST00000343769.5	+	4	1358	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	444					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TAGTAAACATGAGATCATTCA	0.388																																						uc002non.2		NaN																	0				pancreas(1)	1						c.(1330-1332)GAG>AAG		zinc finger protein 93							66.0	64.0	64.0					19																	20045094		2203	4300	6503	SO:0001583	missense	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20045094G>A	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.1330G>A	19.37:g.20045094G>A	ENSP00000342002:p.Glu444Lys						p.E444K	NM_031218	NP_112495	P35789	ZNF93_HUMAN			4	1441	+			444			C2H2-type 11.		A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	ENST00000343769.5	37	c.1330G>A	CCDS32973.1	.	.	.	.	.	.	.	.	.	.	N	0.004	-2.341285	0.00222	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.07327	3.2	0.814	-1.63	0.08345	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03695	0.0105	N	0.20986	0.625	0.19575	N	0.999966	B	0.02656	0.0	B	0.04013	0.001	T	0.45906	-0.9229	9	0.02654	T	1	.	3.3092	0.07011	0.2736:0.4454:0.281:0.0	.	444	P35789	ZNF93_HUMAN	K	444;416	ENSP00000342002:E444K	ENSP00000342002:E444K	E	+	1	0	ZNF93	19906094	0.000000	0.05858	0.010000	0.14722	0.010000	0.07245	-3.808000	0.00361	-1.114000	0.02977	-1.101000	0.02118	GAG		0.388	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2		NM_031218		23	41	0	0	0	0.00333	0	23	41		
ZNF682	91120	broad.mit.edu	37	19	20135146	20135146	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:20135146G>C	ENST00000397165.2	-	2	203	c.43C>G	c.(43-45)Ctg>Gtg	p.L15V	ZNF682_ENST00000397162.1_5'UTR|ZNF682_ENST00000593468.1_Missense_Mutation_p.L15V|AC006539.1_ENST00000578235.1_RNA|ZNF682_ENST00000596019.1_Missense_Mutation_p.L15V|ZNF682_ENST00000595736.1_Intron|ZNF682_ENST00000358523.5_5'UTR|ZNF682_ENST00000597972.1_Missense_Mutation_p.L21V	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	15	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						CACTCCTCCAGAGAGAATTCT	0.433																																						uc002noq.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(43-45)CTG>GTG		zinc finger protein 682 isoform 1							64.0	68.0	67.0					19																	20135146		2188	4296	6484	SO:0001583	missense	91120				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20135146G>C	AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"""Zinc fingers, C2H2-type"", ""-"""	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.43C>G	19.37:g.20135146G>C	ENSP00000380351:p.Leu15Val					ZNF682_uc002noo.2_5'UTR|ZNF682_uc002nop.2_5'UTR|ZNF682_uc010eck.2_Intron	p.L15V	NM_033196	NP_149973	O95780	ZN682_HUMAN			2	166	-			15			KRAB.		B3KU64|E9PFJ5|Q96JV9	Missense_Mutation	SNP	ENST00000397165.2	37	c.43C>G	CCDS42533.1	.	.	.	.	.	.	.	.	.	.	g	0.009	-1.813764	0.00600	.	.	ENSG00000197124	ENST00000397165	T	0.01821	4.62	0.898	-1.8	0.07907	Krueppel-associated box (4);	.	.	.	.	T	0.06280	0.0162	M	0.83692	2.655	0.23174	N	0.998173	D	0.61697	0.99	D	0.62955	0.909	T	0.11867	-1.0570	9	0.33141	T	0.24	.	2.8381	0.05521	0.2519:0.0:0.4947:0.2534	.	15	O95780	ZN682_HUMAN	V	15	ENSP00000380351:L15V	ENSP00000380351:L15V	L	-	1	2	ZNF682	19996146	0.001000	0.12720	0.440000	0.26846	0.446000	0.32137	-2.731000	0.00805	-1.984000	0.00985	-1.959000	0.00480	CTG		0.433	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462888.1		NM_033196		25	58	0	0	0	0.003954	0	25	58		
ZNF257	113835	broad.mit.edu	37	19	22271880	22271880	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:22271880C>A	ENST00000594947.1	+	4	1472	c.1328C>A	c.(1327-1329)tCt>tAt	p.S443Y		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	443					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTTAACCGGTCTTCATACCTT	0.408																																						uc010ecx.2		NaN																	0					0						c.(1327-1329)TCT>TAT		zinc finger protein 257							48.0	53.0	51.0					19																	22271880		2118	4255	6373	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22271880C>A	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1328C>A	19.37:g.22271880C>A	ENSP00000470209:p.Ser443Tyr					ZNF257_uc010ecy.2_Missense_Mutation_p.S411Y	p.S443Y	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN			4	1497	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	443			C2H2-type 10.		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.1328C>A	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	C	0.888	-0.726551	0.03158	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-2.23	0.06930	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40347	0.1113	M	0.78456	2.415	0.09310	N	1	B	0.19445	0.036	B	0.15052	0.012	T	0.35450	-0.9788	8	0.23891	T	0.37	.	3.7573	0.08591	0.2039:0.2721:0.524:0.0	.	443	Q9Y2Q1	ZN257_HUMAN	Y	443;415	.	ENSP00000380312:S415Y	S	+	2	0	ZNF257	22063720	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.677000	0.00396	-0.455000	0.07054	0.313000	0.20887	TCT		0.408	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1				15	22	1	0	0.000219431	0.00245	0.000226068	15	22		
MAG	4099	broad.mit.edu	37	19	35793494	35793494	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:35793494G>A	ENST00000392213.3	+	7	1273	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	MAG_ENST00000537831.2_Missense_Mutation_p.E347K|MAG_ENST00000361922.4_Missense_Mutation_p.E372K	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	372	Ig-like C2-type 3.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGTCATCTACGAGAGCGAGCT	0.587																																						uc002nyy.1		NaN																	0				breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7						c.(1114-1116)GAG>AAG		myelin associated glycoprotein isoform a							110.0	92.0	98.0					19																	35793494		2203	4300	6503	SO:0001583	missense	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35793494G>A	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1114G>A	19.37:g.35793494G>A	ENSP00000376048:p.Glu372Lys					MAG_uc002nyx.1_Missense_Mutation_p.E372K|MAG_uc010eds.1_Missense_Mutation_p.E347K|MAG_uc002nyz.1_Missense_Mutation_p.E372K	p.E372K	NM_002361	NP_002352	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		7	1263	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	372			Ig-like C2-type 3.|Extracellular (Potential).		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	c.1114G>A	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.904761	0.72868	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.77750	-1.12;-1.12;-1.12	5.14	5.14	0.70334	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.053488	0.64402	D	0.000001	T	0.76528	0.4000	L	0.28115	0.83	0.80722	D	1	D;D;D	0.69078	0.997;0.989;0.997	P;P;P	0.59424	0.857;0.689;0.852	T	0.71038	-0.4708	10	0.09843	T	0.71	.	16.0851	0.81042	0.0:0.0:1.0:0.0	.	409;372;372	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	K	409;372;372;347	ENSP00000355234:E372K;ENSP00000376048:E372K;ENSP00000440695:E347K	ENSP00000262624:E409K	E	+	1	0	MAG	40485334	1.000000	0.71417	0.995000	0.50966	0.645000	0.38454	4.820000	0.62671	2.381000	0.81170	0.455000	0.32223	GAG		0.587	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1		NM_080600		28	137	0	0	0	0.007291	0	28	137		
DPF1	8193	broad.mit.edu	37	19	38709684	38709684	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:38709684G>A	ENST00000420980.2	-	4	420	c.394C>T	c.(394-396)Ctg>Ttg	p.L132L	DPF1_ENST00000414789.1_Silent_p.L50L|DPF1_ENST00000355526.4_Silent_p.L132L|DPF1_ENST00000456296.1_Silent_p.L106L|DPF1_ENST00000416611.1_Silent_p.L106L|DPF1_ENST00000412732.1_Silent_p.L50L	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	132					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCTTCTTCAGGGGTGCTTCA	0.612																																						uc002ohl.2		NaN																	0					0						c.(394-396)CTG>TTG		D4, zinc and double PHD fingers family 1 isoform							79.0	86.0	84.0					19																	38709684		2203	4300	6503	SO:0001819	synonymous_variant	8193				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding	g.chr19:38709684G>A	U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"""Zinc fingers, PHD-type"""	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.394C>T	19.37:g.38709684G>A						DPF1_uc002ohm.2_Silent_p.L132L|DPF1_uc002ohn.2_Silent_p.L50L|DPF1_uc010xtu.1_Silent_p.L106L|DPF1_uc010xtv.1_Silent_p.L106L|DPF1_uc010xtw.1_Silent_p.L106L	p.L132L	NM_004647	NP_004638	Q92782	DPF1_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		4	421	-	all_cancers(60;1.24e-06)		132					B3KSY8|Q08AJ0	Silent	SNP	ENST00000420980.2	37	c.394C>T	CCDS33008.2	.	.	.	.	.	.	.	.	.	.	G	9.546	1.114586	0.20795	.	.	ENSG00000011332	ENST00000355526	.	.	.	4.28	2.14	0.27477	.	.	.	.	.	T	0.48447	0.1500	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20505	-1.0273	5	0.20046	T	0.44	-10.2041	6.711	0.23276	0.1133:0.0:0.7298:0.157	.	.	.	.	L	124	.	ENSP00000347716:P124L	P	-	2	0	DPF1	43401524	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	1.367000	0.34204	0.437000	0.26423	0.467000	0.42956	CCT		0.612	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1				38	270	0	0	0	0.007835	0	38	270		
LGALS4	3960	broad.mit.edu	37	19	39292958	39292958	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:39292958C>G	ENST00000307751.4	-	8	1134	c.657G>C	c.(655-657)aaG>aaC	p.K219N		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	219	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CGTTATACCTCTTGCCTGTGG	0.557																																						uc002ojg.2		NaN																	0				ovary(1)|skin(1)	2						c.(655-657)AAG>AAC		galectin-4							216.0	189.0	198.0					19																	39292958		2203	4300	6503	SO:0001583	missense	3960				cell adhesion	cytosol|plasma membrane	sugar binding	g.chr19:39292958C>G		CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.657G>C	19.37:g.39292958C>G	ENSP00000302100:p.Lys219Asn						p.K219N	NM_006149	NP_006140	P56470	LEG4_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		8	871	-	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		219			Galectin 2.			Missense_Mutation	SNP	ENST00000307751.4	37	c.657G>C	CCDS12521.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654246	0.47467	.	.	ENSG00000171747	ENST00000307751	T	0.11930	2.73	5.13	-3.61	0.04556	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	1.253750	0.05266	N	0.516523	T	0.11665	0.0284	L	0.41356	1.27	0.22728	N	0.998808	B	0.09022	0.002	B	0.21360	0.034	T	0.43686	-0.9376	10	0.34782	T	0.22	-9.7202	8.3741	0.32432	0.0:0.338:0.5048:0.1571	.	219	P56470	LEG4_HUMAN	N	219	ENSP00000302100:K219N	ENSP00000302100:K219N	K	-	3	2	LGALS4	43984798	0.587000	0.26791	0.706000	0.30403	0.602000	0.36980	-0.073000	0.11468	-0.117000	0.11872	-0.282000	0.10007	AAG		0.557	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1		NM_006149		171	121	0	0	0	0.00361	0	171	121		
CCDC97	90324	broad.mit.edu	37	19	41822706	41822706	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:41822706G>A	ENST00000269967.3	+	2	586	c.464G>A	c.(463-465)cGt>cAt	p.R155H		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	155										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						ACCCGCCTGCGTAACCGGCGC	0.677																																						uc002oqg.2		NaN																	0					0						c.(463-465)CGT>CAT		coiled-coil domain containing 97							23.0	26.0	25.0					19																	41822706		2194	4280	6474	SO:0001583	missense	90324							g.chr19:41822706G>A	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.464G>A	19.37:g.41822706G>A	ENSP00000269967:p.Arg155His					CYP2F1_uc010xvw.1_Intron	p.R155H	NM_052848	NP_443080	Q96F63	CCD97_HUMAN			2	586	+			155					Q658N6|Q96IF3	Missense_Mutation	SNP	ENST00000269967.3	37	c.464G>A	CCDS12578.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809036	0.90707	.	.	ENSG00000142039	ENST00000269967	.	.	.	4.61	4.61	0.57282	.	0.158586	0.41712	D	0.000832	T	0.73613	0.3609	L	0.47716	1.5	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	T	0.76937	-0.2774	9	0.72032	D	0.01	-4.3219	16.2217	0.82262	0.0:0.0:1.0:0.0	.	155	Q96F63	CCD97_HUMAN	H	155	.	ENSP00000269967:R155H	R	+	2	0	CCDC97	46514546	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	7.476000	0.81055	2.114000	0.64651	0.557000	0.71058	CGT		0.677	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1		NM_052848		44	61	0	0	0	0.00361	0	44	61		
BCKDHA	593	broad.mit.edu	37	19	41930481	41930481	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:41930481G>A	ENST00000269980.2	+	9	1674	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	CTC-435M10.6_ENST00000598887.1_RNA|B3GNT8_ENST00000601379.1_5'Flank|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.E470K|BCKDHA_ENST00000595085.1_Missense_Mutation_p.E470K|BCKDHA_ENST00000457836.2_Missense_Mutation_p.E439K	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	436					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GACCTACGGGGAGCACTACCC	0.617																																						uc002oqq.2		NaN																	0					0						c.(1306-1308)GAG>AAG		branched chain keto acid dehydrogenase E1, alpha							94.0	96.0	96.0					19																	41930481		2203	4300	6503	SO:0001583	missense	593				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding	g.chr19:41930481G>A	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.1306G>A	19.37:g.41930481G>A	ENSP00000269980:p.Glu436Lys					CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Missense_Mutation_p.E470K|BCKDHA_uc002oqr.2_Missense_Mutation_p.E435K|BCKDHA_uc010xvz.1_Missense_Mutation_p.E439K	p.E436K	NM_000709	NP_000700	P12694	ODBA_HUMAN			9	1335	+			436					B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	ENST00000269980.2	37	c.1306G>A	CCDS12581.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886300	0.72410	.	.	ENSG00000255730;ENSG00000248098;ENSG00000248098;ENSG00000248098	ENST00000540732;ENST00000269980;ENST00000457836;ENST00000544905	D;D;D	0.99176	-5.52;-5.52;-5.52	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.97895	0.9308	L	0.53780	1.695	0.80722	D	1	B;B;B;B	0.24426	0.103;0.003;0.07;0.023	B;B;B;B	0.29176	0.099;0.017;0.042;0.068	D	0.96900	0.9659	10	0.37606	T	0.19	-39.5597	18.0538	0.89357	0.0:0.0:1.0:0.0	.	439;435;436;470	B4DP47;Q59EI3;P12694;F5H5P2	.;.;ODBA_HUMAN;.	K	470;436;439;46	ENSP00000443246:E470K;ENSP00000269980:E436K;ENSP00000416000:E439K	ENSP00000269980:E436K	E	+	1	0	BCKDHA;CTC-435M10.3	46622321	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	8.856000	0.92245	2.554000	0.86153	0.561000	0.74099	GAG		0.617	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3		NM_000709		38	149	0	0	0	0.00874	0	38	149		
POU2F2	5452	broad.mit.edu	37	19	42600386	42600386	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:42600386G>A	ENST00000526816.2	-	8	526	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	POU2F2_ENST00000529952.1_Missense_Mutation_p.R171C|POU2F2_ENST00000342301.4_Missense_Mutation_p.R171C|POU2F2_ENST00000529067.1_Intron|POU2F2_ENST00000389341.5_Intron|POU2F2_ENST00000560398.1_Intron|POU2F2_ENST00000533720.1_Intron|POU2F2_ENST00000560558.1_Intron			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	171					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	AGCGTAGGGCGGGTCACGGCC	0.706																																						uc002osp.2		NaN																	0				ovary(1)|skin(1)	2						c.(511-513)CGC>TGC		POU domain, class 2, transcription factor 2							12.0	13.0	13.0					19																	42600386		2199	4292	6491	SO:0001583	missense	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42600386G>A		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.511C>T	19.37:g.42600386G>A	ENSP00000431603:p.Arg171Cys					POU2F2_uc002osn.2_Intron|POU2F2_uc002oso.2_5'UTR|POU2F2_uc002osq.2_Intron|POU2F2_uc002osr.1_Missense_Mutation_p.R171C	p.R171C	NM_002698	NP_002689	P09086	PO2F2_HUMAN			8	578	-		Prostate(69;0.059)	171					Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	37	c.511C>T	CCDS56095.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068363	0.76301	.	.	ENSG00000028277	ENST00000342301;ENST00000292077;ENST00000526816;ENST00000529952	D;D	0.84660	-1.88;-1.79	4.3	3.26	0.37387	.	1.246890	0.05533	N	0.564318	T	0.82167	0.4978	L	0.50333	1.59	0.33785	D	0.624778	B	0.18968	0.032	B	0.08055	0.003	T	0.70189	-0.4940	9	.	.	.	.	11.3083	0.49349	0.0914:0.0:0.9086:0.0	.	171	P09086	PO2F2_HUMAN	C	171;171;170;171	ENSP00000339369:R171C;ENSP00000436988:R171C	.	R	-	1	0	POU2F2	47292226	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.692000	0.54727	1.157000	0.42530	0.650000	0.86243	CGC		0.706	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3				5	23	0	0	0	0.000602	0	5	23		
PSG7	5676	broad.mit.edu	37	19	43441225	43441225	+	RNA	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:43441225C>A	ENST00000406070.2	-	0	100				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				GAGAGGGGCCCCATGGTCTCT	0.572																																						uc002ovl.3		NaN																	0					0						c.(4-6)GGG>TGG		pregnancy specific beta-1-glycoprotein 7							93.0	88.0	90.0					19																	43441225		2201	4298	6499			5676				female pregnancy	extracellular region		g.chr19:43441225C>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43441225C>A						PSG3_uc002ouf.2_5'Flank|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.G2W	p.G2W	NM_002783	NP_002774	Q13046	PSG7_HUMAN			1	106	-		Prostate(69;0.00682)	2					Q15232	Missense_Mutation	SNP	ENST00000406070.2	37	c.4G>T																																																																																					0.572	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2		NM_001206650		34	161	1	0	2.38352e-08	0.004289	2.5322e-08	34	161		
FBXO46	23403	broad.mit.edu	37	19	46216533	46216533	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:46216533G>C	ENST00000317683.3	-	2	354	c.221C>G	c.(220-222)tCa>tGa	p.S74*		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	74										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		AGCTGCTGCTGAGAGGAGCGG	0.642																																						uc002pcy.2		NaN																	0				ovary(1)|lung(1)|breast(1)	3						c.(220-222)TCA>TGA		F-box protein 46							35.0	40.0	39.0					19																	46216533		2070	4200	6270	SO:0001587	stop_gained	23403						protein binding	g.chr19:46216533G>C	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.221C>G	19.37:g.46216533G>C	ENSP00000410007:p.Ser74*					FBXO46_uc002pcz.2_Nonsense_Mutation_p.S74*	p.S74*	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	346	-		Ovarian(192;0.179)|all_neural(266;0.224)	74						Nonsense_Mutation	SNP	ENST00000317683.3	37	c.221C>G	CCDS46116.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577453	0.65878	.	.	ENSG00000177051	ENST00000317683	.	.	.	3.95	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-13.2689	11.7008	0.51569	0.0:0.0:1.0:0.0	.	.	.	.	X	74	.	ENSP00000410007:S74X	S	-	2	0	FBXO46	50908373	0.968000	0.33430	0.978000	0.43139	0.545000	0.35147	2.108000	0.41854	2.206000	0.71126	0.563000	0.77884	TCA		0.642	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1		XM_371179		13	114	0	0	0	0.003163	0	13	114		
ARHGAP35	2909	broad.mit.edu	37	19	47440614	47440614	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:47440614A>T	ENST00000404338.3	+	2	3775	c.3775A>T	c.(3775-3777)Aag>Tag	p.K1259*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1259	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GACTCCAGAGAAGCCGATCCC	0.443																																						uc010ekv.2		NaN																	0				central_nervous_system(1)	1						c.(3775-3777)AAG>TAG		glucocorticoid receptor DNA binding factor 1							91.0	86.0	88.0					19																	47440614		1870	4081	5951	SO:0001587	stop_gained	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47440614A>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.3775A>T	19.37:g.47440614A>T	ENSP00000385720:p.Lys1259*						p.K1259*	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	2	3775	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	1259			Rho-GAP.		A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	ENST00000404338.3	37	c.3775A>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	A	43	10.087490	0.99333	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	.	.	.	5.92	5.92	0.95590	.	0.049321	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.1232	11.3554	0.49613	0.8483:0.1517:0.0:0.0	.	.	.	.	X	1259	.	ENSP00000324820:K1259X	K	+	1	0	ARHGAP35	52132454	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.304000	0.51866	2.267000	0.75376	0.383000	0.25322	AAG		0.443	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1		NM_004491		9	113	0	0	0	0.006214	0	9	113		
ARHGAP35	2909	broad.mit.edu	37	19	47440617	47440617	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:47440617C>G	ENST00000404338.3	+	2	3778	c.3778C>G	c.(3778-3780)Ccg>Gcg	p.P1260A		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1260	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										TCCAGAGAAGCCGATCCCCAT	0.443																																						uc010ekv.2		NaN																	0				central_nervous_system(1)	1						c.(3778-3780)CCG>GCG		glucocorticoid receptor DNA binding factor 1							91.0	86.0	88.0					19																	47440617		1868	4082	5950	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47440617C>G	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.3778C>G	19.37:g.47440617C>G	ENSP00000385720:p.Pro1260Ala						p.P1260A	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	2	3778	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	1260			Rho-GAP.		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.3778C>G	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488853	0.84962	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.40756	1.02	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.55386	0.1917	L	0.45352	1.415	0.80722	D	1	D	0.53745	0.962	P	0.60949	0.881	T	0.40776	-0.9545	10	0.33141	T	0.24	-21.5193	19.0866	0.93204	0.0:1.0:0.0:0.0	.	1260	Q9NRY4-2	.	A	1260	ENSP00000385720:P1260A	ENSP00000324820:P1260A	P	+	1	0	ARHGAP35	52132457	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	7.220000	0.78008	2.809000	0.96659	0.467000	0.42956	CCG		0.443	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1		NM_004491		9	114	0	0	0	0.006214	0	9	114		
MAMSTR	284358	broad.mit.edu	37	19	49218558	49218558	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:49218558G>C	ENST00000318083.6	-	5	449	c.386C>G	c.(385-387)tCt>tGt	p.S129C	MAMSTR_ENST00000356751.4_Missense_Mutation_p.S26C|MAMSTR_ENST00000419611.1_Missense_Mutation_p.S26C|MAMSTR_ENST00000594582.1_Missense_Mutation_p.S26C|MAMSTR_ENST00000377367.3_Missense_Mutation_p.S26C			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	129	Pro-rich.				positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(1)|ovary(1)	2						TTCCCACAGAGATGGCCCAGG	0.627																																						uc002pkg.2		NaN																	0				ovary(1)	1						c.(385-387)TCT>TGT		MEF2 activating motif and SAP domain containing							33.0	35.0	34.0					19																	49218558		2198	4300	6498	SO:0001583	missense	284358				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chr19:49218558G>C	AK093389	CCDS12730.1, CCDS46137.1, CCDS74415.1	19q13.33	2009-07-09			ENSG00000176909	ENSG00000176909			26689	protein-coding gene	gene with protein product	"""MEF2-activating SAP transcriptional regulator"""	610349				16818234	Standard	NM_182574		Approved	MASTR, FLJ36070	uc002pkg.2	Q6ZN01		ENST00000318083.6:c.386C>G	19.37:g.49218558G>C	ENSP00000324175:p.Ser129Cys					MAMSTR_uc002pkf.2_Missense_Mutation_p.S26C	p.S129C	NM_001130915	NP_001124387	Q6ZN01	MASTR_HUMAN			5	448	-			129			Pro-rich.		B7ZKX4|Q3KQU9|Q8N9Y3	Missense_Mutation	SNP	ENST00000318083.6	37	c.386C>G	CCDS46137.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821227	0.32237	.	.	ENSG00000176909	ENST00000318083;ENST00000419611;ENST00000377367;ENST00000356751	.	.	.	3.45	1.12	0.20585	.	0.469374	0.15957	N	0.236442	T	0.16557	0.0398	N	0.08118	0	0.22851	N	0.998652	B	0.25105	0.118	B	0.24394	0.053	T	0.15954	-1.0419	9	0.56958	D	0.05	-1.6238	5.2426	0.15479	0.3055:0.0:0.6945:0.0	.	129	Q6ZN01	MASTR_HUMAN	C	129;26;26;26	.	ENSP00000324175:S129C	S	-	2	0	MAMSTR	53910370	0.678000	0.27586	0.848000	0.33437	0.595000	0.36748	1.402000	0.34600	0.378000	0.24764	-0.275000	0.10095	TCT		0.627	MAMSTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466179.1		NM_182574		3	9	0	0	0	0.000602	0	3	9		
FUT1	2523	broad.mit.edu	37	19	49254435	49254435	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:49254435C>T	ENST00000310160.3	-	4	1078	c.104G>A	c.(103-105)gGc>gAc	p.G35D	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	35					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		CAGGCCTAGGCCATGTGGAAA	0.602																																						uc002pkk.2		NaN																	0				ovary(1)	1						c.(103-105)GGC>GAC		fucosyltransferase 1							66.0	61.0	63.0					19																	49254435		2203	4300	6503	SO:0001583	missense	2523				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49254435C>T		CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"""Blood group antigens"", ""Fucosyltransferases"""	4012	protein-coding gene	gene with protein product		211100	"""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)"", ""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"""	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.104G>A	19.37:g.49254435C>T	ENSP00000312021:p.Gly35Asp						p.G35D	NM_000148	NP_000139	P19526	FUT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)	4	1079	-		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	35			Lumenal (Potential).		O14505|O14506|O14507	Missense_Mutation	SNP	ENST00000310160.3	37	c.104G>A	CCDS12733.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264878	0.40095	.	.	ENSG00000174951	ENST00000310160;ENST00000539428	T	0.66815	-0.23	4.53	-1.73	0.08081	.	2.775760	0.01232	N	0.008378	T	0.52517	0.1739	L	0.32530	0.975	0.09310	N	1	P	0.37122	0.583	B	0.33750	0.169	T	0.47911	-0.9080	10	0.51188	T	0.08	-13.6614	5.0086	0.14300	0.0:0.383:0.3672:0.2498	.	35	P19526	FUT1_HUMAN	D	35	ENSP00000312021:G35D	ENSP00000312021:G35D	G	-	2	0	FUT1	53946247	0.000000	0.05858	0.001000	0.08648	0.081000	0.17604	-1.171000	0.03115	-0.014000	0.14175	0.655000	0.94253	GGC		0.602	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466194.1		NM_000148		23	93	0	0	0	0.004656	0	23	93		
TSKS	60385	broad.mit.edu	37	19	50266516	50266516	+	5'UTR	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:50266516C>T	ENST00000246801.3	-	0	71				RNU6-841P_ENST00000383872.1_RNA	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate						negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GTGTGGGGGTCTGGCTCCCAG	0.632																																						uc002ppm.2		NaN																	0				large_intestine(1)|skin(1)	2						c.e1-1		testis-specific kinase substrate							42.0	44.0	43.0					19																	50266516		2203	4300	6503	SO:0001623	5_prime_UTR_variant	60385						protein binding	g.chr19:50266516C>T	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.-12G>A	19.37:g.50266516C>T								NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	1	1	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)						Q8WXJ0	Splice_Site	SNP	ENST00000246801.3	37	c.-10_splice	CCDS12780.1																																																																																				0.632	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1		NM_021733		27	115	0	0	0	0.00632	0	27	115		
TMEM150B	284417	broad.mit.edu	37	19	55824329	55824329	+	Silent	SNP	G	G	A	rs376782617		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:55824329G>A	ENST00000326652.4	-	8	782	c.600C>T	c.(598-600)gcC>gcT	p.A200A	TMEM150B_ENST00000438693.1_Silent_p.A200A|CTD-2105E13.14_ENST00000596786.1_RNA	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	200						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3						AGAAGTCAACGGCTAAGAGAC	0.682																																						uc010esw.1		NaN																	0					0						c.(598-600)GCC>GCT		transmembrane protein 150B precursor		G		0,4314		0,0,2157	31.0	39.0	37.0		600	-9.1	0.0	19		37	3,8531		0,3,4264	no	coding-synonymous	TMEM150B	NM_001085488.1		0,3,6421	AA,AG,GG		0.0352,0.0,0.0233		200/234	55824329	3,12845	2157	4267	6424	SO:0001819	synonymous_variant	284417					integral to membrane		g.chr19:55824329G>A	BC020862	CCDS42629.1	19q13.42	2009-06-12	2009-06-12	2009-06-12		ENSG00000180061			34415	protein-coding gene	gene with protein product			"""transmembrane protein 224"""	TMEM224			Standard	XM_005258812		Approved		uc010esw.1	A6NC51		ENST00000326652.4:c.600C>T	19.37:g.55824329G>A						TMEM150B_uc010yfu.1_Silent_p.A200A|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA	p.A200A	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN			8	773	-			200			Helical; (Potential).		B7ZW71	Silent	SNP	ENST00000326652.4	37	c.600C>T	CCDS42629.1																																																																																				0.682	TMEM150B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452685.1		NM_001085488		3	34	0	0	0	0.004672	0	3	34		
ZNF471	57573	broad.mit.edu	37	19	57037045	57037045	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:57037045C>G	ENST00000308031.5	+	5	1742	c.1609C>G	c.(1609-1611)Cat>Gat	p.H537D	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	537					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TCAGAAAACTCATACAGGAGA	0.393																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	uc002qnh.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1609-1611)CAT>GAT		zinc finger protein 471							102.0	109.0	107.0					19																	57037045		2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57037045C>G	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1609C>G	19.37:g.57037045C>G	ENSP00000309161:p.His537Asp						p.H537D	NM_020813	NP_065864	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	1742	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	537			C2H2-type 12.		B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.1609C>G	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626266	0.66901	.	.	ENSG00000196263	ENST00000308031	T	0.67698	-0.28	3.59	3.59	0.41128	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.86577	0.5966	H	0.96175	3.78	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.90963	0.4814	9	0.87932	D	0	.	14.1179	0.65167	0.0:1.0:0.0:0.0	.	537	Q9BX82	ZN471_HUMAN	D	537	ENSP00000309161:H537D	ENSP00000309161:H537D	H	+	1	0	ZNF471	61728857	1.000000	0.71417	0.968000	0.41197	0.990000	0.78478	7.055000	0.76656	1.837000	0.53436	0.462000	0.41574	CAT		0.393	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1		NM_020813		9	93	0	0	0	0.006214	0	9	93		
ZNF460	10794	broad.mit.edu	37	19	57803086	57803086	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:57803086G>C	ENST00000360338.3	+	3	1499	c.1177G>C	c.(1177-1179)Gag>Cag	p.E393Q	ZNF460_ENST00000537645.1_Missense_Mutation_p.E352Q	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E393Q(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAGCCTTTTGAGTGCAAAGA	0.468																																						uc002qog.2		NaN																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(1177-1179)GAG>CAG		zinc finger protein 460							81.0	85.0	83.0					19																	57803086		2203	4300	6503	SO:0001583	missense	10794				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57803086G>C	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.1177G>C	19.37:g.57803086G>C	ENSP00000353491:p.Glu393Gln					ZNF460_uc010ygv.1_Missense_Mutation_p.E352Q	p.E393Q	NM_006635	NP_006626	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1499	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	393			C2H2-type 8.		A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	ENST00000360338.3	37	c.1177G>C	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	G	6.539	0.467730	0.12402	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.07444	3.19;3.19	1.68	0.586	0.17434	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04048	0.0113	N	0.13352	0.335	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42050	-0.9474	9	0.46703	T	0.11	.	0.8404	0.01149	0.1578:0.239:0.3597:0.2436	.	393	Q14592	ZN460_HUMAN	Q	352;393	ENSP00000446167:E352Q;ENSP00000353491:E393Q	ENSP00000353491:E393Q	E	+	1	0	ZNF460	62494898	0.000000	0.05858	0.795000	0.32087	0.898000	0.52572	-1.387000	0.02535	0.250000	0.21479	-0.156000	0.13503	GAG		0.468	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1		NM_006635		35	133	0	0	0	0.003271	0	35	133		
ZNF551	90233	broad.mit.edu	37	19	58198132	58198132	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:58198132G>A	ENST00000282296.5	+	3	674	c.489G>A	c.(487-489)aaG>aaA	p.K163K	ZNF551_ENST00000356715.4_Silent_p.K147K|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000599402.1_3'UTR|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	163					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGAAAAGGAAGGTGGATGAGG	0.507																																						uc002qpw.3		NaN																	0				ovary(1)	1						c.(439-441)AAG>AAA		zinc finger protein 551							94.0	93.0	93.0					19																	58198132		2203	4300	6503	SO:0001819	synonymous_variant	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58198132G>A	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.489G>A	19.37:g.58198132G>A						ZNF551_uc002qpv.3_Silent_p.K90K|ZNF776_uc002qpx.2_Intron	p.K147K	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	664	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	163					B4DU22|P17034|Q8N246|Q9BRY1	Silent	SNP	ENST00000282296.5	37	c.441G>A	CCDS12959.2																																																																																				0.507	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2		NM_138347		119	94	0	0	0	0.00361	0	119	94		
ZNF274	10782	broad.mit.edu	37	19	58723904	58723904	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:58723904C>A	ENST00000326804.4	+	9	1813	c.1354C>A	c.(1354-1356)Cgt>Agt	p.R452S	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000424679.2_Missense_Mutation_p.R347S|ZNF274_ENST00000345813.3_Missense_Mutation_p.R420S	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R420C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		ATTGCGCAAACGTGACTCACA	0.423																																						uc002qrq.1		NaN																	1	Substitution - Missense(1)		kidney(1)	ovary(1)	1						c.(1357-1359)CGT>AGT		zinc finger protein 274 isoform c							101.0	100.0	101.0					19																	58723904		2006	4183	6189	SO:0001583	missense	10782				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:58723904C>A	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.1354C>A	19.37:g.58723904C>A	ENSP00000321209:p.Arg452Ser					ZNF274_uc002qrr.1_Missense_Mutation_p.R421S|ZNF274_uc002qrs.1_Missense_Mutation_p.R348S|ZNF274_uc010eum.1_Missense_Mutation_p.R212S	p.R453S	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	10	1816	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	453					Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	ENST00000326804.4	37	c.1357C>A		.	.	.	.	.	.	.	.	.	.	C	4.171	0.030182	0.08101	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.06528	3.37;3.31;3.29	4.55	2.33	0.28932	.	1.051590	0.07544	N	0.914441	T	0.06554	0.0168	.	.	.	0.09310	N	1	P;P;P	0.52170	0.951;0.951;0.918	P;P;B	0.48400	0.576;0.576;0.373	T	0.29731	-1.0002	9	0.10111	T	0.7	-1.6236	8.1403	0.31080	0.1556:0.7532:0.0:0.0912	.	348;421;453	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	S	452;420;347	ENSP00000321209:R452S;ENSP00000321187:R420S;ENSP00000409872:R347S	ENSP00000321209:R452S	R	+	1	0	ZNF274	63415716	0.000000	0.05858	0.020000	0.16555	0.036000	0.12997	-0.009000	0.12765	0.248000	0.21435	-1.134000	0.01955	CGT		0.423	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_133502		11	163	1	0	4.68919e-08	0.008291	4.972e-08	11	163		
FAM110C	642273	broad.mit.edu	37	2	45650	45650	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:45650G>A	ENST00000327669.4	-	1	735	c.736C>T	c.(736-738)Ctc>Ttc	p.L246F	FAM110C_ENST00000460464.1_5'Flank	NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	246					positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell projection assembly (GO:0060491)	cell cortex (GO:0005938)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		CGCACCTTGAGGGTCACACAG	0.687																																						uc010yim.1		NaN																	0					0						c.(736-738)CTC>TTC		hypothetical protein LOC642273							18.0	23.0	21.0					2																	45650		2122	4232	6354	SO:0001583	missense	642273					microtubule|microtubule organizing center|spindle pole		g.chr2:45650G>A	DQ431183	CCDS42645.1	2p25.3	2011-12-01			ENSG00000184731	ENSG00000184731			33340	protein-coding gene	gene with protein product		611395				17499476, 19698782	Standard	NM_001077710		Approved		uc010yim.2	Q1W6H9	OTTHUMG00000151321	ENST00000327669.4:c.736C>T	2.37:g.45650G>A	ENSP00000328347:p.Leu246Phe						p.L246F	NM_001077710	NP_001071178	Q1W6H9	F110C_HUMAN		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)	1	736	-	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)	246						Missense_Mutation	SNP	ENST00000327669.4	37	c.736C>T	CCDS42645.1	.	.	.	.	.	.	.	.	.	.	G	5.237	0.229150	0.09916	.	.	ENSG00000184731	ENST00000327669	T	0.48836	0.8	4.64	-0.546	0.11840	.	0.832352	0.11240	N	0.584738	T	0.18841	0.0452	N	0.04669	-0.19	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.27020	-1.0086	10	0.09338	T	0.73	-9.6699	5.0001	0.14261	0.4813:0.1524:0.3664:0.0	.	246	Q1W6H9	F110C_HUMAN	F	246	ENSP00000328347:L246F	ENSP00000328347:L246F	L	-	1	0	FAM110C	35650	0.318000	0.24598	0.000000	0.03702	0.011000	0.07611	0.844000	0.27654	-0.262000	0.09392	-0.367000	0.07326	CTC		0.687	FAM110C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322220.1		NM_001077710		3	31	0	0	0	0.004672	0	3	31		
NBAS	51594	broad.mit.edu	37	2	15448382	15448382	+	Silent	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:15448382T>A	ENST00000281513.5	-	40	4780	c.4755A>T	c.(4753-4755)cgA>cgT	p.R1585R	NBAS_ENST00000441750.1_Silent_p.R1465R	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1585					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ATGGGGCCAATCGGGCATAGA	0.463																																						uc002rcc.1		NaN																	0				ovary(2)|liver(1)|skin(1)	4						c.(4753-4755)CGA>CGT		neuroblastoma-amplified protein							93.0	89.0	90.0					2																	15448382		2203	4300	6503	SO:0001819	synonymous_variant	51594							g.chr2:15448382T>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4755A>T	2.37:g.15448382T>A						NBAS_uc010exl.1_Silent_p.R657R|NBAS_uc002rcd.1_RNA	p.R1585R	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			40	4781	-			1585					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.4755A>T	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	T	0.673	-0.801202	0.02841	.	.	ENSG00000151779	ENST00000442506	.	.	.	6.16	-12.3	0.00002	.	.	.	.	.	T	0.14874	0.0359	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24870	-1.0148	4	.	.	.	.	3.3651	0.07201	0.1755:0.2829:0.3733:0.1683	.	.	.	.	V	633	.	.	D	-	2	0	NBAS	15365833	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-1.179000	0.03090	-5.663000	0.00011	-1.123000	0.02005	GAT		0.463	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1		NM_015909		7	89	0	0	0	0.001984	0	7	89		
SPAST	6683	broad.mit.edu	37	2	32340842	32340842	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:32340842G>A	ENST00000315285.3	+	6	1067	c.942G>A	c.(940-942)ttG>ttA	p.L314L	SPAST_ENST00000345662.1_Silent_p.L282L	NM_014946.3	NP_055761.2			spastin											breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AAAAAGACTTGAAGAATTTTA	0.308																																						uc002roc.2		NaN																	0				breast(1)	1						c.(940-942)TTG>TTA		spastin isoform 1							85.0	95.0	91.0					2																	32340842		2203	4299	6502	SO:0001819	synonymous_variant	6683				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity	g.chr2:32340842G>A	AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"""ATPases / AAA-type"""	11233	protein-coding gene	gene with protein product		604277	"""spastic paraplegia 4 (autosomal dominant; spastin)"""	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.942G>A	2.37:g.32340842G>A						SPAST_uc002rod.2_Silent_p.L282L	p.L314L	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN			6	1163	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		314			Required for interaction with microtubules and microtubule severing.|Sufficient for microtubule severing.|Sufficient for interaction with microtubules.			Silent	SNP	ENST00000315285.3	37	c.942G>A	CCDS1778.1																																																																																				0.308	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250253.1		NM_199436		30	48	0	0	0	0.002836	0	30	48		
THADA	63892	broad.mit.edu	37	2	43808919	43808919	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:43808919A>G	ENST00000405006.4	-	8	1033	c.682T>C	c.(682-684)Tgt>Cgt	p.C228R	THADA_ENST00000404790.1_Missense_Mutation_p.C228R|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000405975.2_Missense_Mutation_p.C228R|THADA_ENST00000403856.1_Missense_Mutation_p.C228R|THADA_ENST00000402360.2_Missense_Mutation_p.C228R	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	228										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGCAATCCACACATATTTTGC	0.333																																						uc002rsw.3		NaN																	0				ovary(2)|skin(1)	3						c.(682-684)TGT>CGT		thyroid adenoma associated							95.0	91.0	92.0					2																	43808919		1816	4070	5886	SO:0001583	missense	63892						binding	g.chr2:43808919A>G	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.682T>C	2.37:g.43808919A>G	ENSP00000385995:p.Cys228Arg					THADA_uc002rsx.3_Missense_Mutation_p.C228R|THADA_uc002rsy.3_RNA|THADA_uc002rsz.2_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Missense_Mutation_p.C228R|THADA_uc002rtc.3_Missense_Mutation_p.C228R|THADA_uc002rtd.2_Missense_Mutation_p.C228R	p.C228R	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			8	1034	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	228					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.682T>C	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	A	16.82	3.229685	0.58777	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T	0.62941	1.42;1.42;-0.01;-0.01;1.42	4.86	3.61	0.41365	.	0.106321	0.64402	D	0.000004	T	0.74458	0.3719	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.998;0.999	D;D;P;D	0.71656	0.972;0.974;0.905;0.96	T	0.75451	-0.3313	10	0.46703	T	0.11	3.9867	11.4627	0.50219	0.8495:0.1505:0.0:0.0	.	228;228;228;228	B5MC89;Q8IY32;Q6YHU6-5;Q6YHU6	.;.;.;THADA_HUMAN	R	228	ENSP00000386088:C228R;ENSP00000385995:C228R;ENSP00000385441:C228R;ENSP00000384266:C228R;ENSP00000385469:C228R	ENSP00000349464:C228R	C	-	1	0	THADA	43662423	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.421000	0.59848	1.942000	0.56320	0.379000	0.24179	TGT		0.333	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3		NM_022065		8	72	0	0	0	0.004482	0	8	72		
MSH6	2956	broad.mit.edu	37	2	48027760	48027760	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:48027760G>T	ENST00000234420.5	+	4	2790	c.2638G>T	c.(2638-2640)Gat>Tat	p.D880Y	MSH6_ENST00000538136.1_Missense_Mutation_p.D578Y|MSH6_ENST00000540021.1_Missense_Mutation_p.D750Y|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	880					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGAAGTTGCTGATGGTTTTAA	0.363			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc002rwd.3		NaN	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	Mis|N|F|S	mutS homolog 6 (E. coli)			E		colorectal|endometrial|ovarian	colorectal		2	Whole gene deletion(2)		haematopoietic_and_lymphoid_tissue(2)	large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168						c.(2638-2640)GAT>TAT	MMR	mutS homolog 6							93.0	100.0	98.0					2																	48027760		2203	4300	6503	SO:0001583	missense	2956	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48027760G>T	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.2638G>T	2.37:g.48027760G>T	ENSP00000234420:p.Asp880Tyr					MSH6_uc002rwc.2_Missense_Mutation_p.D880Y|MSH6_uc010fbj.2_Missense_Mutation_p.D578Y|MSH6_uc010yoi.1_Missense_Mutation_p.D750Y|MSH6_uc010yoj.1_Missense_Mutation_p.D578Y	p.D880Y	NM_000179	NP_000170	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	2790	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	880					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.2638G>T	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	3.263	-0.150840	0.06585	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.90844	-2.74;-2.74;-2.74	5.66	3.87	0.44632	DNA mismatch repair protein MutS, core (3);	0.667676	0.16108	N	0.229227	D	0.90717	0.7087	L	0.45581	1.43	0.27034	N	0.964176	D;D;P	0.55172	0.97;0.97;0.949	P;P;P	0.54312	0.748;0.744;0.693	D	0.83835	0.0254	10	0.66056	D	0.02	-4.7015	10.2249	0.43220	0.2301:0.0:0.7699:0.0	.	750;880;880	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	Y	880;878;750;578	ENSP00000234420:D880Y;ENSP00000446475:D750Y;ENSP00000438580:D578Y	ENSP00000234420:D880Y	D	+	1	0	MSH6	47881264	0.673000	0.27539	0.116000	0.21606	0.330000	0.28571	2.403000	0.44530	0.752000	0.32923	0.467000	0.42956	GAT		0.363	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4		NM_000179		23	120	1	0	1.96895e-08	0.00278	2.09585e-08	23	120		
NRXN1	9378	broad.mit.edu	37	2	51254845	51254845	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:51254845G>A	ENST00000406316.2	-	2	2043	c.567C>T	c.(565-567)gtC>gtT	p.V189V	NRXN1_ENST00000406859.3_Silent_p.V189V|NRXN1_ENST00000401669.2_Silent_p.V189V|NRXN1_ENST00000402717.3_Silent_p.V189V|NRXN1_ENST00000405472.3_Silent_p.V189V|NRXN1_ENST00000404971.1_Silent_p.V189V|NRXN1_ENST00000405581.1_Silent_p.V189V	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	189	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCGAGGAGTTGACCCTCACGT	0.721																																						uc010fbq.2		NaN																	0				ovary(2)	2						c.(565-567)GTC>GTT		neurexin 1 isoform alpha2 precursor							29.0	37.0	34.0					2																	51254845		2079	4191	6270	SO:0001819	synonymous_variant	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:51254845G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.567C>T	2.37:g.51254845G>A						NRXN1_uc002rxe.3_Silent_p.V189V|NRXN1_uc002rxd.1_Silent_p.V189V	p.V189V	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	2044	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.567C>T	CCDS54360.1																																																																																				0.721	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2				13	11	0	0	0	0.003163	0	13	11		
CLHC1	130162	broad.mit.edu	37	2	55407749	55407749	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:55407749G>T	ENST00000401408.1	-	11	1626	c.1281C>A	c.(1279-1281)taC>taA	p.Y427*	CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406076.1_Nonsense_Mutation_p.Y305*|CLHC1_ENST00000407122.1_Nonsense_Mutation_p.Y427*|CLHC1_ENST00000406437.2_5'UTR	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	427																	CACATTCACTGTAGACAATCT	0.448																																						uc002ryi.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1279-1281)TAC>TAA		hypothetical protein LOC130162 isoform 1							125.0	113.0	117.0					2																	55407749		2203	4300	6503	SO:0001587	stop_gained	130162						binding	g.chr2:55407749G>T		CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 63"""	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.1281C>A	2.37:g.55407749G>T	ENSP00000384869:p.Tyr427*					C2orf63_uc002ryh.2_5'UTR|C2orf63_uc002ryj.2_Nonsense_Mutation_p.Y305*	p.Y427*	NM_152385	NP_689598	Q8NHS4	CB063_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)		11	1627	-			427					B2RDV1|Q53R93|Q8N403	Nonsense_Mutation	SNP	ENST00000401408.1	37	c.1281C>A	CCDS33201.1	.	.	.	.	.	.	.	.	.	.	G	36	5.973454	0.97162	.	.	ENSG00000162994	ENST00000407122;ENST00000401408;ENST00000406076	.	.	.	5.98	0.0759	0.14401	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3003	9.6426	0.39848	0.409:0.0:0.591:0.0	.	.	.	.	X	427;427;305	.	ENSP00000384869:Y427X	Y	-	3	2	C2orf63	55261253	0.548000	0.26473	0.179000	0.23059	0.944000	0.59088	0.492000	0.22435	-0.055000	0.13244	0.591000	0.81541	TAC		0.448	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324412.4		NM_152385		49	76	1	0	7.88023e-25	0.00361	8.94735e-25	49	76		
CFAP36	112942	broad.mit.edu	37	2	55764680	55764680	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:55764680A>G	ENST00000349456.4	+	7	747	c.599A>G	c.(598-600)aAt>aGt	p.N200S	CCDC104_ENST00000339012.3_Missense_Mutation_p.N225S|CCDC104_ENST00000490934.1_3'UTR|CCDC104_ENST00000406691.3_Missense_Mutation_p.N200S|CCDC104_ENST00000407816.3_Missense_Mutation_p.N200S			Q96G28	CFA36_HUMAN		200										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATAATGAATAATTCCCAAGGG	0.373																																						uc002ryy.2		NaN																	0				ovary(1)	1						c.(598-600)AAT>AGT		coiled-coil domain containing 104							93.0	99.0	97.0					2																	55764680		2203	4300	6503	SO:0001583	missense	112942							g.chr2:55764680A>G																												ENST00000349456.4:c.599A>G	2.37:g.55764680A>G	ENSP00000295117:p.Asn200Ser					CCDC104_uc002ryx.2_Missense_Mutation_p.N225S	p.N200S	NM_080667	NP_542398	Q96G28	CC104_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		7	797	+			200					Q53SF0|Q53ST9|Q6UY34	Missense_Mutation	SNP	ENST00000349456.4	37	c.599A>G	CCDS1854.2	.	.	.	.	.	.	.	.	.	.	A	1.511	-0.549448	0.03996	.	.	ENSG00000163001	ENST00000339012;ENST00000406691;ENST00000349456;ENST00000407816	T;T;T;T	0.30981	2.31;1.51;2.32;2.31	5.12	1.36	0.22044	.	0.875614	0.10447	N	0.673583	T	0.15565	0.0375	N	0.21448	0.665	0.09310	N	1	B;B	0.12630	0.0;0.006	B;B	0.10450	0.0;0.005	T	0.35895	-0.9770	10	0.08179	T	0.78	.	4.1999	0.10460	0.6429:0.1751:0.182:0.0	.	200;225	Q96G28;Q96G28-2	CC104_HUMAN;.	S	225;200;200;200	ENSP00000342699:N225S;ENSP00000385400:N200S;ENSP00000295117:N200S;ENSP00000385376:N200S	ENSP00000342699:N225S	N	+	2	0	CCDC104	55618184	0.163000	0.22920	0.051000	0.19133	0.594000	0.36715	1.501000	0.35693	0.148000	0.19059	0.528000	0.53228	AAT		0.373	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2				6	101	0	0	0	0.001984	0	6	101		
USP34	9736	broad.mit.edu	37	2	61622358	61622358	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:61622358G>A	ENST00000398571.2	-	4	639	c.563C>T	c.(562-564)aCt>aTt	p.T188I		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	188					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACTTTCTTGAGTTGATATATC	0.229																																						uc002sbe.2		NaN																	0				ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(562-564)ACT>ATT		ubiquitin specific protease 34							27.0	27.0	27.0					2																	61622358		1760	3989	5749	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61622358G>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.563C>T	2.37:g.61622358G>A	ENSP00000381577:p.Thr188Ile						p.T188I	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		4	585	-			188					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.563C>T	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369485	0.61624	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.14391	2.51	5.67	5.67	0.87782	.	0.052918	0.64402	D	0.000001	T	0.10423	0.0255	N	0.08118	0	0.43448	D	0.995636	B	0.17667	0.023	B	0.20767	0.031	T	0.22556	-1.0213	10	0.59425	D	0.04	.	19.7723	0.96370	0.0:0.0:1.0:0.0	.	188	Q70CQ2	UBP34_HUMAN	I	36;36;188	ENSP00000381577:T188I	ENSP00000263989:T36I	T	-	2	0	USP34	61475862	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.275000	0.95738	2.674000	0.91012	0.579000	0.79373	ACT		0.229	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4				10	11	0	0	0	0.006214	0	10	11		
ETAA1	54465	broad.mit.edu	37	2	67630594	67630594	+	Missense_Mutation	SNP	G	G	C	rs369257992		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:67630594G>C	ENST00000272342.5	+	5	910	c.780G>C	c.(778-780)aaG>aaC	p.K260N	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	260						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GAAACACCAAGATATCTGTGG	0.313																																						uc002sdz.1		NaN																	0				ovary(3)|large_intestine(1)	4						c.(778-780)AAG>AAC		ETAA16 protein							67.0	72.0	71.0					2																	67630594		2202	4298	6500	SO:0001583	missense	54465					cytoplasm|nucleus		g.chr2:67630594G>C	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.780G>C	2.37:g.67630594G>C	ENSP00000272342:p.Lys260Asn						p.K260N	NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN			5	919	+			260					Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	c.780G>C	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	G	2.209	-0.381242	0.05000	.	.	ENSG00000143971	ENST00000272342	T	0.21191	2.02	5.96	-3.91	0.04168	.	0.885835	0.09938	N	0.736248	T	0.12902	0.0313	L	0.38531	1.155	0.09310	N	1	B	0.16802	0.019	B	0.18561	0.022	T	0.32877	-0.9890	10	0.42905	T	0.14	-20.1917	4.3431	0.11119	0.5769:0.1495:0.1703:0.1033	.	260	Q9NY74	ETAA1_HUMAN	N	260	ENSP00000272342:K260N	ENSP00000272342:K260N	K	+	3	2	ETAA1	67484098	0.000000	0.05858	0.000000	0.03702	0.273000	0.26683	-0.895000	0.04118	-0.391000	0.07763	0.650000	0.86243	AAG		0.313	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1		NM_019002		15	87	0	0	0	0.00245	0	15	87		
ARHGAP25	9938	broad.mit.edu	37	2	69002357	69002357	+	Silent	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:69002357G>T	ENST00000295381.3	+	2	485	c.66G>T	c.(64-66)cgG>cgT	p.R22R	ARHGAP25_ENST00000409030.3_Silent_p.R15R|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000467265.1_Silent_p.R22R|ARHGAP25_ENST00000409220.1_Silent_p.R15R|ARHGAP25_ENST00000497079.1_Silent_p.R15R|ARHGAP25_ENST00000409202.3_Silent_p.R22R|ARHGAP25_ENST00000544262.1_5'UTR	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	22					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CTATAGCTCGGTCAAGGAGTG	0.612																																						uc002seu.2		NaN																	0				ovary(2)|breast(2)	4						c.(64-66)CGG>CGT		Rho GTPase activating protein 25 isoform a							214.0	217.0	216.0					2																	69002357		2203	4300	6503	SO:0001819	synonymous_variant	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69002357G>T	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.66G>T	2.37:g.69002357G>T						ARHGAP25_uc010yqk.1_5'UTR|ARHGAP25_uc010fdg.2_Silent_p.R22R|ARHGAP25_uc010yql.1_Silent_p.R22R|ARHGAP25_uc002sev.2_Silent_p.R15R|ARHGAP25_uc002sew.2_Silent_p.R15R|ARHGAP25_uc002sex.2_Silent_p.R15R|ARHGAP25_uc010fdh.1_RNA	p.R22R	NM_001007231	NP_001007232	P42331	RHG25_HUMAN			2	430	+			22					A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Silent	SNP	ENST00000295381.3	37	c.66G>T																																																																																					0.612	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_014882		45	599	1	0	6.27289e-28	0.00361	7.1822e-28	45	599		
LOXL3	84695	broad.mit.edu	37	2	74779494	74779494	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:74779494C>G	ENST00000264094.3	-	2	339	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	LOXL3_ENST00000393937.2_Missense_Mutation_p.E90Q|LOXL3_ENST00000409986.1_Missense_Mutation_p.E90Q|LOXL3_ENST00000409549.1_Missense_Mutation_p.E90Q|LOXL3_ENST00000484369.1_5'UTR|DOK1_ENST00000409429.1_Intron|LOXL3_ENST00000409249.1_Missense_Mutation_p.E90Q|DOK1_ENST00000233668.5_5'Flank|DOK1_ENST00000340004.6_5'Flank	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	90	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CCTGTGGCCTCTGTGAAGCCC	0.572																																						uc002smp.1		NaN																	0					0						c.(268-270)GAG>CAG		lysyl oxidase-like 3 precursor							40.0	36.0	37.0					2																	74779494		2203	4300	6503	SO:0001583	missense	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74779494C>G	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.268G>C	2.37:g.74779494C>G	ENSP00000264094:p.Glu90Gln					LOXL3_uc002smo.1_5'Flank|LOXL3_uc010ffm.1_Missense_Mutation_p.E90Q|LOXL3_uc002smq.1_Missense_Mutation_p.E90Q|LOXL3_uc010ffn.1_Missense_Mutation_p.E90Q|DOK1_uc002smr.2_Intron|DOK1_uc002sms.2_5'Flank|DOK1_uc010ffo.2_5'Flank|DOK1_uc002smt.2_5'Flank|DOK1_uc002smu.2_5'Flank|DOK1_uc010yrz.1_5'Flank|DOK1_uc002smv.2_5'Flank|DOK1_uc002smw.1_5'Flank	p.E90Q	NM_032603	NP_115992	P58215	LOXL3_HUMAN			2	340	-			90			SRCR 1.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	c.268G>C	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764735	0.69878	.	.	ENSG00000115318	ENST00000264094;ENST00000409249;ENST00000393937;ENST00000409549;ENST00000409986;ENST00000413469	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	4.84	4.84	0.62591	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.196710	0.43747	D	0.000526	T	0.44329	0.1288	L	0.38175	1.15	0.80722	D	1	B;P;P;P	0.51537	0.429;0.757;0.769;0.946	B;P;B;P	0.53102	0.348;0.718;0.356;0.671	T	0.10965	-1.0607	10	0.17832	T	0.49	.	15.4796	0.75514	0.0:1.0:0.0:0.0	.	90;90;90;90	B9A025;E7END4;Q6IPL7;P58215	.;.;.;LOXL3_HUMAN	Q	90	ENSP00000264094:E90Q;ENSP00000387103:E90Q;ENSP00000377512:E90Q;ENSP00000386696:E90Q;ENSP00000386545:E90Q;ENSP00000398260:E90Q	ENSP00000264094:E90Q	E	-	1	0	LOXL3	74633002	0.696000	0.27757	1.000000	0.80357	0.995000	0.86356	3.526000	0.53509	2.531000	0.85337	0.555000	0.69702	GAG		0.572	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1		NM_032603		16	85	0	0	0	0.006122	0	16	85		
GGCX	2677	broad.mit.edu	37	2	85778102	85778102	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:85778102C>G	ENST00000233838.4	-	13	1914	c.1834G>C	c.(1834-1836)Gag>Cag	p.E612Q	GGCX_ENST00000430215.3_Missense_Mutation_p.E555Q|GGCX_ENST00000473665.1_5'Flank	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	612					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	AGGTCTTGCTCCAGTGCAAGC	0.453																																						uc002sps.2		NaN																	0				ovary(1)	1						c.(1834-1836)GAG>CAG		gamma-glutamyl carboxylase isoform 1	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)						212.0	196.0	202.0					2																	85778102		2203	4300	6503	SO:0001583	missense	2677				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	g.chr2:85778102C>G		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.1834G>C	2.37:g.85778102C>G	ENSP00000233838:p.Glu612Gln					GGCX_uc010yss.1_Missense_Mutation_p.E428Q|GGCX_uc010yst.1_Missense_Mutation_p.E555Q	p.E612Q	NM_000821	NP_000812	P38435	VKGC_HUMAN			13	1940	-			612			Lumenal (Potential).		B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	ENST00000233838.4	37	c.1834G>C	CCDS1978.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.492011	0.44352	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	T;T	0.30714	1.52;1.52	5.53	5.53	0.82687	Cupin, RmlC-type (1);	0.052180	0.85682	D	0.000000	T	0.19967	0.0480	N	0.05124	-0.11	0.44018	D	0.996732	B;P;B	0.48230	0.036;0.907;0.081	B;B;B	0.44224	0.021;0.444;0.021	T	0.06144	-1.0843	10	0.25106	T	0.35	-23.2119	17.3142	0.87218	0.0:1.0:0.0:0.0	.	555;428;612	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	Q	612;555	ENSP00000233838:E612Q;ENSP00000408045:E555Q	ENSP00000233838:E612Q	E	-	1	0	GGCX	85631613	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.777000	0.68931	2.763000	0.94921	0.561000	0.74099	GAG		0.453	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3		NM_000821		101	120	0	0	0	0.00361	0	101	120		
ANKRD36	375248	broad.mit.edu	37	2	97866233	97866233	+	Missense_Mutation	SNP	A	A	G	rs573775748	byFrequency	TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:97866233A>G	ENST00000461153.2	+	46	3072	c.2828A>G	c.(2827-2829)gAa>gGa	p.E943G	ANKRD36_ENST00000420699.2_Missense_Mutation_p.E943G			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	943										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						ATAACCAGAGAAAAAAAGGAT	0.333													.|||	16	0.00319489	0.0	0.0	5008	,	,		29505	0.0159		0.0	False		,,,				2504	0.0					uc010yva.1		NaN																	0					0						c.(2827-2829)GAA>GGA		ankyrin repeat domain 36							120.0	124.0	123.0					2																	97866233		692	1591	2283	SO:0001583	missense	375248							g.chr2:97866233A>G	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2828A>G	2.37:g.97866233A>G	ENSP00000419530:p.Glu943Gly					ANKRD36_uc002sxp.3_RNA	p.E943G	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN			46	3072	+			943					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2828A>G	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	10.06	1.246417	0.22796	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.78816	-1.21;-1.21	0.85	-0.345	0.12624	.	.	.	.	.	T	0.51261	0.1664	N	0.04636	-0.2	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38929	-0.9638	9	0.52906	T	0.07	.	3.2628	0.06854	0.3476:0.0:0.6524:0.0	.	943	A6QL64	AN36A_HUMAN	G	943;943;305	ENSP00000419530:E943G;ENSP00000391950:E943G	ENSP00000391950:E943G	E	+	2	0	ANKRD36	97229960	0.001000	0.12720	0.005000	0.12908	0.004000	0.04260	-0.388000	0.07352	-0.094000	0.12374	0.136000	0.15936	GAA		0.333	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5				2	11	0	0	0	0.004672	0	2	11		
KIAA1211L	343990	broad.mit.edu	37	2	99463218	99463218	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:99463218C>T	ENST00000397899.2	-	2	377	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	16																	CCAAGGCCTTCTGCAGCCTCC	0.527																																						uc002szf.1		NaN																	0					0						c.(46-48)GAA>AAA		hypothetical protein LOC343990							94.0	96.0	95.0					2																	99463218		2002	4162	6164	SO:0001583	missense	343990							g.chr2:99463218C>T	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.46G>A	2.37:g.99463218C>T	ENSP00000380996:p.Glu16Lys						p.E16K	NM_207362	NP_997245	Q6NV74	CB055_HUMAN			2	340	-			16						Missense_Mutation	SNP	ENST00000397899.2	37	c.46G>A	CCDS42720.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036793	0.54896	.	.	ENSG00000196872	ENST00000397899;ENST00000423771;ENST00000428096;ENST00000415261;ENST00000420294	T	0.54479	0.57	5.41	5.41	0.78517	.	0.000000	0.53938	D	0.000058	T	0.67618	0.2912	L	0.58101	1.795	0.27865	N	0.94025	D	0.69078	0.997	D	0.68353	0.957	T	0.63444	-0.6636	10	0.87932	D	0	-12.4287	14.5573	0.68109	0.0:1.0:0.0:0.0	.	16	Q6NV74	CB055_HUMAN	K	16;44;30;30;30	ENSP00000380996:E16K	ENSP00000380996:E16K	E	-	1	0	C2orf55	98829650	0.988000	0.35896	0.967000	0.41034	0.970000	0.65996	3.298000	0.51818	2.821000	0.97095	0.555000	0.69702	GAA		0.527	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1		NM_207362		43	76	0	0	0	0.00361	0	43	76		
GPR45	11250	broad.mit.edu	37	2	105859329	105859329	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:105859329G>A	ENST00000258456.1	+	1	1130	c.1014G>A	c.(1012-1014)ttG>ttA	p.L338L		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	338						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GCATAGAGTTGCTGCCCCAGA	0.547																																						uc002tco.1		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1012-1014)TTG>TTA		G protein-coupled receptor 45							79.0	84.0	82.0					2																	105859329		2203	4300	6503	SO:0001819	synonymous_variant	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105859329G>A	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.1014G>A	2.37:g.105859329G>A							p.L338L	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			1	1130	+			338			Cytoplasmic (Potential).		Q6NWS4|Q6NXU6	Silent	SNP	ENST00000258456.1	37	c.1014G>A	CCDS2066.1																																																																																				0.547	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1		NM_007227		21	195	0	0	0	0.008871	0	21	195		
BUB1	699	broad.mit.edu	37	2	111399043	111399043	+	Splice_Site	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:111399043T>C	ENST00000302759.6	-	22	2744		c.e22-2		BUB1_ENST00000478175.1_Splice_Site|BUB1_ENST00000535254.1_Splice_Site|BUB1_ENST00000409311.1_Intron	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase						apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AATGGCATTCTAGGAACAATG	0.403																																						uc002tgc.2		NaN																	0				lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7						c.e22-1		budding uninhibited by benzimidazoles 1							82.0	86.0	85.0					2																	111399043		2192	4292	6484	SO:0001630	splice_region_variant	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111399043T>C	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.2626-2A>G	2.37:g.111399043T>C						BUB1_uc010yxh.1_Splice_Site_p.N856_splice|BUB1_uc010fkb.2_Intron	p.N876_splice	NM_004336	NP_004327	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	22	2738	-		Ovarian(717;0.0822)						E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Splice_Site	SNP	ENST00000302759.6	37	c.2626_splice	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.654912	0.67472	.	.	ENSG00000169679	ENST00000535254;ENST00000302759	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6301	0.76899	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BUB1	111115515	1.000000	0.71417	0.987000	0.45799	0.934000	0.57294	7.873000	0.87193	2.367000	0.80283	0.528000	0.53228	.		0.403	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1		NM_004336	Intron	37	105	0	0	0	0.006999	0	37	105		
ZC3H6	376940	broad.mit.edu	37	2	113089651	113089651	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:113089651G>A	ENST00000409871.1	+	12	3557	c.3156G>A	c.(3154-3156)agG>agA	p.R1052R	AC115115.2_ENST00000607612.1_RNA|ZC3H6_ENST00000343936.4_Silent_p.R1052R	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1052							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ATGACCCTAGGGATCACGGTT	0.453																																						uc002thq.1		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(3154-3156)AGG>AGA		zinc finger CCCH-type domain containing 6							67.0	61.0	63.0					2																	113089651		1907	4135	6042	SO:0001819	synonymous_variant	376940						nucleic acid binding|zinc ion binding	g.chr2:113089651G>A	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.3156G>A	2.37:g.113089651G>A							p.R1052R	NM_198581	NP_940983	P61129	ZC3H6_HUMAN			12	3550	+			1052					A9JR71|Q6ZW96	Silent	SNP	ENST00000409871.1	37	c.3156G>A	CCDS46393.1																																																																																				0.453	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1		NM_198581		25	40	0	0	0	0.005443	0	25	40		
INSIG2	51141	broad.mit.edu	37	2	118854145	118854145	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:118854145G>C	ENST00000245787.4	+	2	219	c.13G>C	c.(13-15)Gag>Cag	p.E5Q	INSIG2_ENST00000485520.1_Intron	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	5					cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)		p.E5K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GGCAGAAGGAGAGACAGAGTC	0.418																																						uc002tlk.2		NaN																	1	Substitution - Missense(1)	p.E5K(1)	central_nervous_system(1)	ovary(1)|central_nervous_system(1)	2						c.(13-15)GAG>CAG		insulin induced protein 2							91.0	86.0	88.0					2																	118854145		2203	4300	6503	SO:0001583	missense	51141				ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex		g.chr2:118854145G>C	AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.13G>C	2.37:g.118854145G>C	ENSP00000245787:p.Glu5Gln					INSIG2_uc010yye.1_Intron	p.E5Q	NM_016133	NP_057217	Q9Y5U4	INSI2_HUMAN			2	219	+			5					A8K5W8|Q8TBI8	Missense_Mutation	SNP	ENST00000245787.4	37	c.13G>C	CCDS2122.1	.	.	.	.	.	.	.	.	.	.	G	9.792	1.178304	0.21787	.	.	ENSG00000125629	ENST00000245787	.	.	.	5.41	3.62	0.41486	.	0.627867	0.17654	N	0.166581	T	0.21307	0.0513	N	0.08118	0	0.27861	N	0.940405	B	0.10296	0.003	B	0.08055	0.003	T	0.16541	-1.0399	9	0.18276	T	0.48	.	10.2846	0.43560	0.1533:0.0:0.8467:0.0	.	5	Q9Y5U4	INSI2_HUMAN	Q	5	.	ENSP00000245787:E5Q	E	+	1	0	INSIG2	118570615	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	0.987000	0.29603	0.865000	0.35603	-0.140000	0.14226	GAG		0.418	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129624.1		NM_016133		24	54	0	0	0	0.002299	0	24	54		
CFAP221	200373	broad.mit.edu	37	2	120385260	120385260	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:120385260G>C	ENST00000413369.3	+	16	1635	c.1548G>C	c.(1546-1548)cgG>cgC	p.R516R	PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000602047.1_Silent_p.R230R	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					TCCTGAGGCGGATCAGTCAGG	0.483																																						uc002tmb.2		NaN																	0					0						c.(688-690)CGG>CGC		primary ciliary dyskinesia protein 1							113.0	119.0	117.0					2																	120385260		2203	4300	6503	SO:0001819	synonymous_variant	200373					cilium	calmodulin binding	g.chr2:120385260G>C																												ENST00000413369.3:c.1548G>C	2.37:g.120385260G>C						PCDP1_uc010yyq.1_Silent_p.R360R	p.R230R	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN			17	1782	+	Colorectal(110;0.196)		516						Silent	SNP	ENST00000413369.3	37	c.690G>C	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	G	2.603	-0.292474	0.05568	.	.	ENSG00000163075	ENST00000443972;ENST00000413057	.	.	.	4.18	-2.83	0.05769	.	.	.	.	.	T	0.23094	0.0558	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30504	-0.9976	4	.	.	.	2.5965	5.5688	0.17184	0.4892:0.145:0.3658:0.0	.	.	.	.	A	75;64	.	.	G	+	2	0	AC069154.2	120101730	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.339000	0.07832	-0.643000	0.05473	-0.137000	0.14449	GGA		0.483	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1				30	227	0	0	0	0.009535	0	30	227		
PTPN4	5775	broad.mit.edu	37	2	120725515	120725515	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:120725515G>A	ENST00000263708.2	+	26	3432	c.2661G>A	c.(2659-2661)atG>atA	p.M887I	PTPN4_ENST00000544261.1_Missense_Mutation_p.M520I	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	887	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TAAGAACAATGAGAGATCAGC	0.373																																						uc002tmf.1		NaN																	0				ovary(2)	2						c.(2659-2661)ATG>ATA		protein tyrosine phosphatase, non-receptor type	Alendronate(DB00630)						136.0	138.0	137.0					2																	120725515		2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120725515G>A		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.2661G>A	2.37:g.120725515G>A	ENSP00000263708:p.Met887Ile					PTPN4_uc010flj.1_Missense_Mutation_p.M600I|PTPN4_uc010yyr.1_Missense_Mutation_p.M520I	p.M887I	NM_002830	NP_002821	P29074	PTN4_HUMAN			26	3432	+			887			Tyrosine-protein phosphatase.		B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.2661G>A	CCDS2129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.4|27.4	4.825357|4.825357	0.90955|0.90955	.|.	.|.	ENSG00000088179|ENSG00000088179	ENST00000441089|ENST00000263708;ENST00000544261	.|D;D	.|0.82433	.|-1.61;-1.61	5.2|5.2	5.2|5.2	0.72013|0.72013	.|Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82527|0.82527	0.5056|0.5056	M|M	0.63169|0.63169	1.94|1.94	0.80722|0.80722	D|D	1|1	.|B	.|0.25390	.|0.125	.|B	.|0.22601	.|0.04	T|T	0.81212|0.81212	-0.1035|-0.1035	5|10	.|0.87932	.|D	.|0	.|.	18.7366|18.7366	0.91757|0.91757	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|887	.|P29074	.|PTN4_HUMAN	K|I	171|887;520	.|ENSP00000263708:M887I;ENSP00000445841:M520I	.|ENSP00000263708:M887I	E|M	+|+	1|3	0|0	PTPN4|PTPN4	120441985|120441985	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.756000|9.756000	0.98918|0.98918	2.426000|2.426000	0.82243|0.82243	0.585000|0.585000	0.79938|0.79938	GAG|ATG		0.373	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2				52	85	0	0	0	0.00361	0	52	85		
GLI2	2736	broad.mit.edu	37	2	121747003	121747003	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:121747003G>C	ENST00000452319.1	+	14	3573	c.3513G>C	c.(3511-3513)ctG>ctC	p.L1171L	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Silent_p.L1171L					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGGGCAACCTGGCGGTGGTGC	0.632																																						uc010flp.2		NaN																	0				ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(3511-3513)CTG>CTC		GLI-Kruppel family member GLI2							24.0	24.0	24.0					2																	121747003		2173	4244	6417	SO:0001819	synonymous_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121747003G>C		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.3513G>C	2.37:g.121747003G>C						GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Silent_p.L843L|GLI2_uc002tmu.3_Silent_p.L826L	p.L1171L	NM_005270	NP_005261	P10070	GLI2_HUMAN			13	3543	+	Renal(3;0.0496)	Prostate(154;0.0623)	1171						Silent	SNP	ENST00000452319.1	37	c.3513G>C	CCDS33283.1																																																																																				0.632	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3		NM_005270		5	67	0	0	0	0.000602	0	5	67		
CCDC74A	90557	broad.mit.edu	37	2	132290451	132290451	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:132290451G>C	ENST00000295171.6	+	6	1029	c.891G>C	c.(889-891)aaG>aaC	p.K297N	CCDC74A_ENST00000409856.3_Missense_Mutation_p.K231N|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	297										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GGCACCTCAAGTCCCTCCTGG	0.697																																						uc002tta.2		NaN																	0				skin(1)	1						c.(889-891)AAG>AAC		coiled-coil domain containing 74A							41.0	48.0	46.0					2																	132290451		2203	4300	6503	SO:0001583	missense	90557							g.chr2:132290451G>C		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.891G>C	2.37:g.132290451G>C	ENSP00000295171:p.Lys297Asn					CCDC74A_uc002ttb.2_Missense_Mutation_p.K231N	p.K297N	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN			6	943	+			297					Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	c.891G>C	CCDS2167.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.82|10.82	1.458480|1.458480	0.26248|0.26248	.|.	.|.	ENSG00000163040|ENSG00000163040	ENST00000295171;ENST00000409856|ENST00000434330	T;T|T	0.52526|0.49432	0.66;0.66|0.78	2.66|2.66	1.27|1.27	0.21489|0.21489	.|.	0.000000|.	0.38164|.	U|.	0.001799|.	T|T	0.51822|0.51822	0.1697|0.1697	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.968|.	D;D|.	0.72625|.	0.973;0.978|.	T|T	0.56171|0.56171	-0.8023|-0.8023	10|7	0.66056|0.87932	D|D	0.02|0	.|.	3.4143|3.4143	0.07369|0.07369	0.3419:0.0:0.6581:0.0|0.3419:0.0:0.6581:0.0	.|.	231;297|.	Q96AQ1-2;Q96AQ1|.	.;CC74A_HUMAN|.	N|T	297;231|186	ENSP00000295171:K297N;ENSP00000387009:K231N|ENSP00000406839:S186T	ENSP00000295171:K297N|ENSP00000406839:S186T	K|S	+|+	3|2	2|0	CCDC74A|CCDC74A	132006921|132006921	0.998000|0.998000	0.40836|0.40836	0.998000|0.998000	0.56505|0.56505	0.163000|0.163000	0.22366|0.22366	1.312000|1.312000	0.33574|0.33574	1.192000|1.192000	0.43071|0.43071	0.194000|0.194000	0.17425|0.17425	AAG|AGT		0.697	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2		NM_138770		8	97	0	0	0	0.00308	0	8	97		
LCT	3938	broad.mit.edu	37	2	136575162	136575163	+	Missense_Mutation	DNP	CC	CC	TG			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:136575162_136575163CC>TG	ENST00000264162.2	-	6	1465_1466	c.1455_1456GG>CA	c.(1453-1458)caGGat>caCAat	p.485_486QD>HN	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	485	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	ATGCCCGCATCCTGTAGCCTGT	0.614																																						uc002tuu.1		NaN																	0				ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(1453-1458)CAGGAT>CACAAT		lactase-phlorizin hydrolase preproprotein																																				SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136575162_136575163CC>TG	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1455_1456delinsTG	2.37:g.136575162_136575163delinsTG	ENSP00000264162:p.Q485_D486delinsHN						p.485_486QD>HN	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	6	1466_1467	-			485_486			Extracellular (Potential).|4 X approximate repeats.|2.		Q4ZG58	Missense_Mutation	DNP	ENST00000264162.2	37	c.1455_1456GG>CA	CCDS2178.1																																																																																				0.614	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1		NM_002299		9	86	0	0	0	0.004672	0	9	86		
LRP1B	53353	broad.mit.edu	37	2	141092027	141092027	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:141092027G>A	ENST00000389484.3	-	79	13189	c.12218C>T	c.(12217-12219)cCc>cTc	p.P4073L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4073					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATACCTGTGGGTCTCTGTAA	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NaN																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(12217-12219)CCC>CTC		low density lipoprotein-related protein 1B							156.0	145.0	148.0					2																	141092027		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141092027G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12218C>T	2.37:g.141092027G>A	ENSP00000374135:p.Pro4073Leu	TSP Lung(27;0.18)					p.P4073L	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	79	13190	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4073			Extracellular (Potential).|LDL-receptor class B 35.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12218C>T	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.9|28.9	4.961041|4.961041	0.92791|0.92791	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|D	0.99519|0.99563	-6.07|-6.17	5.78|5.78	5.78|5.78	0.91487|0.91487	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);|.	0.071300|0.071300	0.64402|0.64402	D|D	0.000018|0.000018	D|D	0.99799|0.99799	0.9914|0.9914	H|H	0.96460|0.96460	3.825|3.825	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.97318|0.97318	0.9942|0.9942	10|8	0.72032|0.87932	D|D	0.01|0	.|.	20.3754|20.3754	0.98918|0.98918	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4073|.	Q9NZR2|.	LRP1B_HUMAN|.	L|S	4073;4011|305	ENSP00000374135:P4073L|ENSP00000415052:P305S	ENSP00000374135:P4073L|ENSP00000415052:P305S	P|P	-|-	2|1	0|0	LRP1B|LRP1B	140808497|140808497	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.882000|0.882000	0.50991|0.50991	9.176000|9.176000	0.94839|0.94839	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	CCC|CCA		0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557		35	67	0	0	0	0.002836	0	35	67		
LRP1B	53353	broad.mit.edu	37	2	141130656	141130656	+	Silent	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:141130656A>C	ENST00000389484.3	-	69	11660	c.10689T>G	c.(10687-10689)ggT>ggG	p.G3563G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3563	LDL-receptor class A 27. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTATACACTGACCATTGGAAC	0.353										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NaN																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(10687-10689)GGT>GGG		low density lipoprotein-related protein 1B							179.0	168.0	171.0					2																	141130656		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141130656A>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10689T>G	2.37:g.141130656A>C		TSP Lung(27;0.18)					p.G3563G	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	69	11661	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3563			Extracellular (Potential).|LDL-receptor class A 27.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.10689T>G	CCDS2182.1																																																																																				0.353	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557		7	98	0	0	0	0.001984	0	7	98		
ERMN	57471	broad.mit.edu	37	2	158178129	158178129	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:158178129A>G	ENST00000410096.1	-	3	800	c.509T>C	c.(508-510)aTg>aCg	p.M170T	ERMN_ENST00000535935.1_Missense_Mutation_p.M64T|ERMN_ENST00000397283.2_Missense_Mutation_p.M183T|ERMN_ENST00000420719.2_Missense_Mutation_p.M150T	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	170					actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						AGAATGTAACATGTCAGCTTG	0.413																																						uc002tzh.2		NaN																	0				ovary(1)|skin(1)	2						c.(508-510)ATG>ACG		ermin, ERM-like protein isoform b							178.0	167.0	170.0					2																	158178129		1938	4143	6081	SO:0001583	missense	57471					cytoplasm|cytoskeleton		g.chr2:158178129A>G	AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"""juxtanodin"", ""ermin"""	610072	"""KIAA1189"""	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.509T>C	2.37:g.158178129A>G	ENSP00000387047:p.Met170Thr					ERMN_uc010zcj.1_Missense_Mutation_p.M64T|ERMN_uc010zck.1_Missense_Mutation_p.M150T|ERMN_uc002tzi.2_Missense_Mutation_p.M183T	p.M170T	NM_020711	NP_065762	Q8TAM6	ERMIN_HUMAN			3	771	-			170					B4DKA6|Q9ULN1	Missense_Mutation	SNP	ENST00000410096.1	37	c.509T>C	CCDS46431.1	.	.	.	.	.	.	.	.	.	.	A	7.488	0.649973	0.14516	.	.	ENSG00000136541	ENST00000410096;ENST00000397283;ENST00000535935;ENST00000420719	.	.	.	5.83	4.62	0.57501	.	0.798245	0.11637	N	0.544216	T	0.15262	0.0368	N	0.08118	0	0.09310	N	1	P;P;P	0.37276	0.589;0.589;0.589	B;B;B	0.33392	0.121;0.163;0.121	T	0.05338	-1.0891	9	0.33141	T	0.24	-6.4201	9.3722	0.38261	0.8202:0.1798:0.0:0.0	.	150;183;170	B4DIZ1;Q8TAM6-2;Q8TAM6	.;.;ERMIN_HUMAN	T	170;183;64;150	.	ENSP00000380453:M183T	M	-	2	0	ERMN	157886375	0.000000	0.05858	0.005000	0.12908	0.774000	0.43823	0.545000	0.23268	2.235000	0.73313	0.533000	0.62120	ATG		0.413	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332659.1		NM_001009959		40	220	0	0	0	0.006999	0	40	220		
CCDC148	130940	broad.mit.edu	37	2	159035486	159035486	+	Silent	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:159035486A>G	ENST00000283233.5	-	12	1706	c.1393T>C	c.(1393-1395)Ttg>Ctg	p.L465L	CCDC148_ENST00000409187.1_Silent_p.L474L|CCDC148-AS1_ENST00000412781.2_RNA	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	465										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CGCCTTTCCAATAATTCTTGT	0.403																																						uc002tzq.2		NaN																	0				ovary(2)	2						c.(1393-1395)TTG>CTG		coiled-coil domain containing 148							81.0	83.0	82.0					2																	159035486		2203	4300	6503	SO:0001819	synonymous_variant	130940							g.chr2:159035486A>G		CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.1393T>C	2.37:g.159035486A>G						CCDC148_uc002tzr.2_Silent_p.L313L|CCDC148_uc010foh.2_Silent_p.L178L	p.L465L	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN			12	1656	-			465					F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Silent	SNP	ENST00000283233.5	37	c.1393T>C	CCDS33304.1																																																																																				0.403	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1		NM_138803		25	39	0	0	0	0.004656	0	25	39		
PKP4	8502	broad.mit.edu	37	2	159477589	159477589	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:159477589G>C	ENST00000389759.3	+	5	480	c.368G>C	c.(367-369)gGa>gCa	p.G123A	PKP4_ENST00000389757.3_Missense_Mutation_p.G123A	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	123					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCAGAACAAGGAACCCTCTAT	0.408										HNSCC(62;0.18)																												uc002tzv.2		NaN																	0				ovary(5)|skin(2)	7						c.(367-369)GGA>GCA		plakophilin 4 isoform a							116.0	105.0	109.0					2																	159477589		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159477589G>C	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.368G>C	2.37:g.159477589G>C	ENSP00000374409:p.Gly123Ala	HNSCC(62;0.18)				PKP4_uc002tzt.1_5'UTR|PKP4_uc002tzu.2_Missense_Mutation_p.G123A|PKP4_uc002tzw.2_Missense_Mutation_p.G123A|PKP4_uc002tzx.2_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Missense_Mutation_p.G123A|PKP4_uc002uaa.2_5'UTR	p.G123A	NM_003628	NP_003619	Q99569	PKP4_HUMAN			5	628	+			123					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.368G>C	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781744	0.49891	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;T	0.75477	-0.93;-0.94	6.0	5.1	0.69264	.	0.754756	0.13777	N	0.363527	T	0.69433	0.3110	L	0.42245	1.32	0.43603	D	0.995961	B;B	0.19200	0.004;0.034	B;B	0.17433	0.012;0.018	T	0.64892	-0.6300	10	0.59425	D	0.04	-2.5667	14.1234	0.65203	0.0:0.0:0.7268:0.2732	.	123;123	Q99569-2;Q99569	.;PKP4_HUMAN	A	123	ENSP00000374407:G123A;ENSP00000374409:G123A	ENSP00000374407:G123A	G	+	2	0	PKP4	159185835	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.459000	0.66685	1.484000	0.48361	0.655000	0.94253	GGA		0.408	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1				6	102	0	0	0	0.001168	0	6	102		
BAZ2B	29994	broad.mit.edu	37	2	160257136	160257136	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:160257136C>G	ENST00000392783.2	-	17	3367	c.2872G>C	c.(2872-2874)Gaa>Caa	p.E958Q	AC008277.1_ENST00000608714.1_RNA|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E924Q|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E858Q|AC008277.1_ENST00000594921.1_RNA|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000392782.1_Missense_Mutation_p.E922Q	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	958	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GCTCGAAGTTCTTTTTCCATT	0.249																																						uc002uao.2		NaN																	0				ovary(3)|skin(1)	4						c.(2872-2874)GAA>CAA		bromodomain adjacent to zinc finger domain, 2B							55.0	48.0	50.0					2																	160257136		1782	4055	5837	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160257136C>G	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.2872G>C	2.37:g.160257136C>G	ENSP00000376534:p.Glu958Gln					BAZ2B_uc002uap.2_Missense_Mutation_p.E922Q|BAZ2B_uc002uaq.1_Missense_Mutation_p.E788Q	p.E958Q	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			17	3224	-			958			Lys-rich.|Potential.		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.2872G>C	CCDS2209.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.819052|4.819052	0.90873|0.90873	.|.	.|.	ENSG00000123636|ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439|ENST00000294905	T;T;T;T|.	0.17691|.	2.26;2.26;2.26;2.26|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.000000|.	0.37483|.	U|.	0.002076|.	T|T	0.71651|0.71651	0.3365|0.3365	L|L	0.55481|0.55481	1.735|1.735	0.58432|0.58432	D|D	0.999993|0.999993	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.83275|.	0.953;0.996;0.942|.	T|T	0.68723|0.68723	-0.5333|-0.5333	10|5	0.59425|.	D|.	0.04|.	-17.8219|-17.8219	18.9988|18.9988	0.92824|0.92824	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	858;922;958|.	Q9UIF8-2;Q9UIF8-5;Q9UIF8|.	.;.;BAZ2B_HUMAN|.	Q|T	922;958;924;858|9	ENSP00000376533:E922Q;ENSP00000376534:E958Q;ENSP00000348087:E924Q;ENSP00000339670:E858Q|.	ENSP00000339670:E858Q|.	E|R	-|-	1|2	0|0	BAZ2B|BAZ2B	159965382|159965382	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.395000|7.395000	0.79876|0.79876	2.465000|2.465000	0.83290|0.83290	0.585000|0.585000	0.79938|0.79938	GAA|AGA		0.249	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2				13	39	0	0	0	0.001368	0	13	39		
SCN2A	6326	broad.mit.edu	37	2	166231228	166231228	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:166231228T>A	ENST00000375437.2	+	22	4296	c.4006T>A	c.(4006-4008)Tct>Act	p.S1336T	SCN2A_ENST00000283256.6_Missense_Mutation_p.S1336T|SCN2A_ENST00000357398.3_Missense_Mutation_p.S1336T|SCN2A_ENST00000375427.2_Missense_Mutation_p.S1336T	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1336			S -> Y (in EIEE11; the disease progresses to West syndrome). {ECO:0000269|PubMed:23935176}.		intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCCATTCCATCTATCATGAA	0.333																																						uc002udc.2		NaN																	0				ovary(6)|breast(1)|pancreas(1)	8						c.(4006-4008)TCT>ACT		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						155.0	147.0	150.0					2																	166231228		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166231228T>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4006T>A	2.37:g.166231228T>A	ENSP00000364586:p.Ser1336Thr					SCN2A_uc002udd.2_Missense_Mutation_p.S1336T|SCN2A_uc002ude.2_Missense_Mutation_p.S1336T	p.S1336T	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			22	4296	+			1336			III.		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.4006T>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.444466	0.83993	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98602	-5.02;-5.02;-5.02;-5.02	4.48	4.48	0.54585	Ion transport (1);	0.000000	0.64402	D	0.000014	D	0.98679	0.9557	M	0.76727	2.345	0.54753	D	0.999986	D;D	0.89917	1.0;0.989	D;D	0.85130	0.997;0.996	D	0.99799	1.1035	10	0.87932	D	0	.	14.0772	0.64897	0.0:0.0:0.0:1.0	.	1336;1336	Q99250-2;Q99250	.;SCN2A_HUMAN	T	1336	ENSP00000364586:S1336T;ENSP00000349973:S1336T;ENSP00000283256:S1336T;ENSP00000364576:S1336T	ENSP00000283256:S1336T	S	+	1	0	SCN2A	165939474	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.997000	0.88414	1.780000	0.52325	0.383000	0.25322	TCT		0.333	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2		NM_021007		7	111	0	0	0	0.00308	0	7	111		
METAP1D	254042	broad.mit.edu	37	2	172945092	172945092	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:172945092G>A	ENST00000315796.4	+	10	1353	c.966G>A	c.(964-966)tcG>tcA	p.S322S	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	MAP12_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	322					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|protein initiator methionine removal (GO:0070084)	mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						TGATCACGTCGAGGGGCGCGC	0.612																																						uc002uhk.2		NaN																	0					0						c.(964-966)TCG>TCA		methionine aminopeptidase 1D precursor							94.0	97.0	96.0					2																	172945092		2203	4300	6503	SO:0001819	synonymous_variant	254042				N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr2:172945092G>A	AY374142, BC029123	CCDS2246.1	2q31.1	2010-09-21			ENSG00000172878	ENSG00000172878			32583	protein-coding gene	gene with protein product	"""methionine aminopeptidase 1D"""	610267				14532271, 16568094	Standard	NM_199227		Approved	MAP1D, Metap1l	uc002uhk.3	Q6UB28	OTTHUMG00000132283	ENST00000315796.4:c.966G>A	2.37:g.172945092G>A						MAP1D_uc010zdw.1_Silent_p.S204S	p.S322S	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		10	1039	+			322					Q1WNX3	Silent	SNP	ENST00000315796.4	37	c.966G>A	CCDS2246.1																																																																																				0.612	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255378.2		NM_199227		255	167	0	0	0	0.00361	0	255	167		
TTN	7273	broad.mit.edu	37	2	179417524	179417524	+	Missense_Mutation	SNP	G	G	A	rs397517747		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:179417524G>A	ENST00000591111.1	-	285	85404	c.85180C>T	c.(85180-85182)Cgt>Tgt	p.R28394C	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R30035C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R27467C|TTN_ENST00000359218.5_Missense_Mutation_p.R21095C|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R20970C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R21162C			Q8WZ42	TITIN_HUMAN	titin	28394	Fibronectin type-III 107. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGAGATCACGTATAGGAGCT	0.438																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(82399-82401)CGT>TGT		titin isoform N2-A							77.0	70.0	72.0					2																	179417524		1927	4146	6073	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179417524G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.85180C>T	2.37:g.179417524G>A	ENSP00000465570:p.Arg28394Cys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R21162C|TTN_uc010zfi.1_Missense_Mutation_p.R21095C|TTN_uc010zfj.1_Missense_Mutation_p.R20970C	p.R27467C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		284	82623	-			28394					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.82399C>T		.	.	.	.	.	.	.	.	.	.	G	14.31	2.498313	0.44455	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.76	3.68	0.42216	Fibronectin, type III (5);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71796	0.3382	M	0.69523	2.12	0.50171	D	0.999857	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.63597	0.916;0.916;0.916;0.916	T	0.76830	-0.2814	9	0.87932	D	0	.	14.0509	0.64736	0.0:0.0:0.5959:0.404	.	20970;21095;21162;28394	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	27467;20970;21162;21095;20967	ENSP00000343764:R27467C;ENSP00000434586:R20970C;ENSP00000340554:R21162C;ENSP00000352154:R21095C	ENSP00000340554:R21162C	R	-	1	0	TTN	179125770	0.999000	0.42202	0.957000	0.39632	0.978000	0.69477	3.188000	0.50958	1.544000	0.49359	0.655000	0.94253	CGT		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		10	100	0	0	0	0.008291	0	10	100		
PMS1	5378	broad.mit.edu	37	2	190718686	190718686	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:190718686C>G	ENST00000441310.2	+	8	1077	c.844C>G	c.(844-846)Ctg>Gtg	p.L282V	PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000447232.2_Missense_Mutation_p.L282V|PMS1_ENST00000418224.3_Missense_Mutation_p.L106V|PMS1_ENST00000409823.3_Missense_Mutation_p.L243V|PMS1_ENST00000432292.3_Missense_Mutation_p.L106V	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	282					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TCATTACAATCTGAAATGCCT	0.289			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														uc002urh.3		NaN	yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	Mis|N	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		colorectal|endometrial|ovarian			0				ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(844-846)CTG>GTG	Direct_reversal_of_damage|MMR	postmeiotic segregation 1 isoform a							73.0	67.0	69.0					2																	190718686		2201	4295	6496	SO:0001583	missense	5378				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190718686C>G		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.844C>G	2.37:g.190718686C>G	ENSP00000406490:p.Leu282Val					PMS1_uc010zga.1_Missense_Mutation_p.L243V|PMS1_uc010zgb.1_Missense_Mutation_p.L221V|PMS1_uc002urk.3_Missense_Mutation_p.L243V|PMS1_uc002uri.3_Missense_Mutation_p.L282V|PMS1_uc010zgc.1_Missense_Mutation_p.L106V|PMS1_uc010zgd.1_Missense_Mutation_p.L106V|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.L243V|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Missense_Mutation_p.L67V|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Translation_Start_Site	p.L282V	NM_000534	NP_000525	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		8	1373	+			282					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	c.844C>G	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	C	5.842	0.339609	0.11069	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000424307;ENST00000409593	T;T;D;T;T;T;T	0.81739	-1.44;-1.44;-1.53;-1.44;-1.44;-1.44;-1.44	4.6	1.62	0.23740	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);	0.710645	0.14222	N	0.333312	T	0.63873	0.2548	N	0.14661	0.345	0.21473	N	0.999673	B;B;B;B;B;B;B	0.24258	0.037;0.045;0.02;0.098;0.02;0.1;0.037	B;B;B;B;B;B;B	0.27076	0.034;0.055;0.06;0.076;0.021;0.06;0.034	T	0.52124	-0.8617	10	0.28530	T	0.3	-5.3331	8.6395	0.33968	0.0:0.6529:0.1996:0.1475	.	282;243;243;67;243;282;282	Q4VAL4;B4DMF4;Q5FBZ9;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;.;.;PMS1_HUMAN	V	106;282;106;243;282;106;221;67	ENSP00000406490:L282V;ENSP00000404492:L106V;ENSP00000387125:L243V;ENSP00000401064:L282V;ENSP00000398378:L106V;ENSP00000389938:L221V;ENSP00000387169:L67V	ENSP00000376149:L106V	L	+	1	2	PMS1	190426931	0.209000	0.23505	0.998000	0.56505	0.987000	0.75469	-0.147000	0.10234	0.668000	0.31126	0.557000	0.71058	CTG		0.289	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2				6	57	0	0	0	0.00308	0	6	57		
PMS1	5378	broad.mit.edu	37	2	190718983	190718983	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:190718983C>T	ENST00000441310.2	+	9	1218	c.985C>T	c.(985-987)Ctt>Ttt	p.L329F	PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000447232.2_Missense_Mutation_p.L329F|PMS1_ENST00000418224.3_Missense_Mutation_p.L153F|PMS1_ENST00000409823.3_Missense_Mutation_p.L290F|PMS1_ENST00000432292.3_Missense_Mutation_p.L153F	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	329					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TTTAATTGCTCTTGAAAATCT	0.259			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														uc002urh.3		NaN	yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	Mis|N	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		colorectal|endometrial|ovarian			0				ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(985-987)CTT>TTT	Direct_reversal_of_damage|MMR	postmeiotic segregation 1 isoform a							28.0	31.0	30.0					2																	190718983		2049	4223	6272	SO:0001583	missense	5378				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190718983C>T		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.985C>T	2.37:g.190718983C>T	ENSP00000406490:p.Leu329Phe					PMS1_uc010zga.1_Missense_Mutation_p.L290F|PMS1_uc010zgb.1_Missense_Mutation_p.L268F|PMS1_uc002urk.3_Missense_Mutation_p.L290F|PMS1_uc002uri.3_Missense_Mutation_p.L329F|PMS1_uc010zgc.1_Missense_Mutation_p.L153F|PMS1_uc010zgd.1_Missense_Mutation_p.L153F|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.L290F|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Missense_Mutation_p.L114F|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_5'UTR	p.L329F	NM_000534	NP_000525	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		9	1514	+			329					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	c.985C>T	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126081	0.56721	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000424307;ENST00000409593	D;D;D;D;D;D;D	0.86230	-1.81;-1.81;-2.09;-1.81;-1.81;-1.81;-1.81	5.29	3.37	0.38596	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);	0.177091	0.48767	D	0.000180	D	0.89632	0.6771	L	0.54323	1.7	0.39674	D	0.970796	B;B;D;P;B;B;B	0.57899	0.201;0.237;0.981;0.557;0.118;0.201;0.201	B;B;D;B;B;B;B	0.65573	0.141;0.297;0.936;0.349;0.141;0.141;0.141	D	0.89072	0.3470	10	0.46703	T	0.11	-8.9092	9.7607	0.40530	0.1231:0.4005:0.4764:0.0	.	329;290;290;114;290;329;329	Q4VAL4;B4DMF4;Q5FBZ9;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;.;.;PMS1_HUMAN	F	153;329;153;290;329;153;268;114	ENSP00000406490:L329F;ENSP00000404492:L153F;ENSP00000387125:L290F;ENSP00000401064:L329F;ENSP00000398378:L153F;ENSP00000389938:L268F;ENSP00000387169:L114F	ENSP00000376149:L153F	L	+	1	0	PMS1	190427228	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.183000	0.42565	1.423000	0.47198	0.557000	0.71058	CTT		0.259	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2				9	47	0	0	0	0.004482	0	9	47		
MDH1B	130752	broad.mit.edu	37	2	207619970	207619970	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:207619970G>C	ENST00000374412.3	-	5	948	c.673C>G	c.(673-675)Ctg>Gtg	p.L225V	MDH1B_ENST00000449792.1_Missense_Mutation_p.L127V|MDH1B_ENST00000454776.2_Missense_Mutation_p.L225V|MDH1B_ENST00000392214.2_Intron	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	225					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CAGTCCTCCAGAGTGAACACC	0.577																																					Pancreas(76;29 1355 28675 37177 51207)	uc002vbs.2		NaN																	0				ovary(3)|kidney(1)	4						c.(673-675)CTG>GTG		malate dehydrogenase 1B, NAD (soluble)							61.0	57.0	58.0					2																	207619970		2203	4300	6503	SO:0001583	missense	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207619970G>C		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.673C>G	2.37:g.207619970G>C	ENSP00000363533:p.Leu225Val					MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Missense_Mutation_p.L225V|MDH1B_uc010fuj.2_Missense_Mutation_p.L127V|MDH1B_uc002vbt.2_Intron	p.L225V	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	5	728	-			225					A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	c.673C>G	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	G	8.118	0.780252	0.16120	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.42900	0.96;0.96;0.96	5.68	-11.4	0.00090	NAD(P)-binding domain (1);	0.626201	0.16267	N	0.221950	T	0.24084	0.0583	M	0.64997	1.995	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.17979	0.02;0.007	T	0.14755	-1.0461	10	0.30078	T	0.28	-3.6368	0.9036	0.01279	0.4124:0.1525:0.2039:0.2312	.	225;225	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	V	225;127;225	ENSP00000363533:L225V;ENSP00000416577:L127V;ENSP00000389916:L225V	ENSP00000363533:L225V	L	-	1	2	MDH1B	207328215	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.345000	0.07770	-3.337000	0.00184	-0.355000	0.07637	CTG		0.577	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2		NM_001039845		44	35	0	0	0	0.00874	0	44	35		
NYAP2	57624	broad.mit.edu	37	2	226447337	226447337	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr2:226447337G>C	ENST00000272907.6	+	4	1617	c.1204G>C	c.(1204-1206)Gga>Cga	p.G402R	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	402	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CGCGGCCCTGGGACCTGCCTC	0.667																																						uc002voe.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1204-1206)GGA>CGA		hypothetical protein LOC57624							17.0	23.0	21.0					2																	226447337		2005	4148	6153	SO:0001583	missense	57624							g.chr2:226447337G>C	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1204G>C	2.37:g.226447337G>C	ENSP00000272907:p.Gly402Arg					KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.G172R	p.G402R	NM_020864	NP_065915	Q9P242	K1486_HUMAN		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	4	1379	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	402			Pro-rich.		A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.1204G>C	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.327875	0.60743	.	.	ENSG00000144460	ENST00000272907	T	0.42513	0.97	5.31	5.31	0.75309	.	0.258032	0.39475	N	0.001343	T	0.48429	0.1499	N	0.22421	0.69	0.80722	D	1	D	0.63046	0.992	P	0.60068	0.868	T	0.40590	-0.9555	10	0.33141	T	0.24	-17.0712	19.0167	0.92897	0.0:0.0:1.0:0.0	.	402	Q9P242	K1486_HUMAN	R	402	ENSP00000272907:G402R	ENSP00000272907:G402R	G	+	1	0	KIAA1486	226155581	1.000000	0.71417	0.735000	0.30896	0.640000	0.38277	7.344000	0.79328	2.484000	0.83849	0.655000	0.94253	GGA		0.667	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1		NM_020864		5	4	0	0	0	0.000602	0	5	4		
CSNK2A1	1457	broad.mit.edu	37	20	469337	469337	+	Missense_Mutation	SNP	T	T	C	rs375633788		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:469337T>C	ENST00000217244.3	-	11	1184	c.809A>G	c.(808-810)aAt>aGt	p.N270S	CSNK2A1_ENST00000349736.5_Missense_Mutation_p.N270S|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.N270S|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.N134S	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	270	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			CAAGATATCATTGAAACGTGG	0.358													T|||	1	0.000199681	0.0	0.0	5008	,	,		20905	0.001		0.0	False		,,,				2504	0.0					uc002wdw.1		NaN																	0				ovary(1)	1						c.(808-810)AAT>AGT		casein kinase II alpha 1 subunit isoform a		T	SER/ASN,SER/ASN,SER/ASN	0,4406		0,0,2203	143.0	126.0	131.0		809,809,401	5.4	1.0	20		131	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CSNK2A1	NM_001895.3,NM_177559.2,NM_177560.2	46,46,46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign,benign	270/392,270/392,134/256	469337	1,13005	2203	4300	6503	SO:0001583	missense	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:469337T>C	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.809A>G	20.37:g.469337T>C	ENSP00000217244:p.Asn270Ser					CSNK2A1_uc002wdx.1_Missense_Mutation_p.N270S|CSNK2A1_uc002wdy.1_Missense_Mutation_p.N134S	p.N270S	NM_177559	NP_808227	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		11	1202	-		Breast(17;0.231)	270			Protein kinase.		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	37	c.809A>G	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.452311	0.63290	0.0	1.16E-4	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973;ENST00000400217	T;T;T;T	0.41400	3.34;3.34;3.34;1.0	5.44	5.44	0.79542	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.081393	0.85682	D	0.000000	T	0.31420	0.0796	L	0.27944	0.81	0.80722	D	1	B	0.14012	0.009	B	0.08055	0.003	T	0.06338	-1.0832	10	0.28530	T	0.3	-12.4553	14.836	0.70183	0.0:0.0:0.0:1.0	.	270	P68400	CSK21_HUMAN	S	270;270;270;270;134	ENSP00000383086:N270S;ENSP00000339247:N270S;ENSP00000217244:N270S;ENSP00000383076:N134S	ENSP00000217244:N270S	N	-	2	0	CSNK2A1	417337	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.820000	0.86633	2.285000	0.76669	0.533000	0.62120	AAT		0.358	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1		NM_001895		47	33	0	0	0	0.00361	0	47	33		
C20orf194	25943	broad.mit.edu	37	20	3305600	3305600	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:3305600C>A	ENST00000252032.9	-	14	1271	c.1204G>T	c.(1204-1206)Gag>Tag	p.E402*	C20orf194_ENST00000453730.2_Nonsense_Mutation_p.E140*	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	402										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						AGAGTTTGCTCTGCTACCTCC	0.413																																						uc002wii.2		NaN																	0					0						c.(1204-1206)GAG>TAG		hypothetical protein LOC25943							97.0	102.0	101.0					20																	3305600		1875	4105	5980	SO:0001587	stop_gained	25943							g.chr20:3305600C>A	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.1204G>T	20.37:g.3305600C>A	ENSP00000252032:p.Glu402*					C20orf194_uc002wij.3_Nonsense_Mutation_p.E141*|C20orf194_uc002wik.2_Nonsense_Mutation_p.E76*|C20orf194_uc010gay.1_RNA	p.E402*	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN			14	1255	-			402					Q66K86|Q6P2R9|Q9UFX9	Nonsense_Mutation	SNP	ENST00000252032.9	37	c.1204G>T	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	C	38	6.937705	0.97948	.	.	ENSG00000088854	ENST00000252032;ENST00000453730	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	17.977	0.89130	0.0:1.0:0.0:0.0	.	.	.	.	X	402;140	.	ENSP00000252032:E402X	E	-	1	0	C20orf194	3253600	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.444000	0.52914	2.776000	0.95493	0.655000	0.94253	GAG		0.413	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1		NM_001009984		36	114	1	0	3.03874e-20	0.003271	3.42881e-20	36	114		
PLCB4	5332	broad.mit.edu	37	20	9400495	9400495	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:9400495C>T	ENST00000378493.1	+	22	2072	c.2057C>T	c.(2056-2058)aCa>aTa	p.T686I	PLCB4_ENST00000334005.3_Missense_Mutation_p.T686I|PLCB4_ENST00000414679.2_Missense_Mutation_p.T698I|PLCB4_ENST00000378473.3_Missense_Mutation_p.T698I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.T686I|PLCB4_ENST00000378501.2_Missense_Mutation_p.T686I			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	686					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCTGATCGAACATTTGACCCC	0.433																																						uc002wnf.2		NaN																	0				skin(11)|ovary(3)|pancreas(1)	15						c.(2056-2058)ACA>ATA		phospholipase C beta 4 isoform b							183.0	173.0	177.0					20																	9400495		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9400495C>T		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2057C>T	20.37:g.9400495C>T	ENSP00000367754:p.Thr686Ile					PLCB4_uc010gbw.1_Missense_Mutation_p.T686I|PLCB4_uc010gbx.2_Missense_Mutation_p.T698I|PLCB4_uc002wne.2_Missense_Mutation_p.T686I|PLCB4_uc002wnh.2_Missense_Mutation_p.T533I	p.T686I	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			24	2193	+			686					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.2057C>T	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047857	0.55110	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.22336	2.14;2.14;2.13;2.13;2.14;1.96	5.36	5.36	0.76844	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.185508	0.64402	D	0.000017	T	0.28067	0.0692	L	0.59436	1.845	0.58432	D	0.999995	B;B;B;B	0.34103	0.248;0.049;0.437;0.321	B;B;B;B	0.35550	0.146;0.037;0.115;0.205	T	0.04373	-1.0956	10	0.56958	D	0.05	.	19.4501	0.94863	0.0:1.0:0.0:0.0	.	698;533;686;686	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	I	686;698;686;686;686;534	ENSP00000334105:T686I;ENSP00000367734:T698I;ENSP00000278655:T686I;ENSP00000367754:T686I;ENSP00000367762:T686I;ENSP00000390616:T534I	ENSP00000278655:T686I	T	+	2	0	PLCB4	9348495	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	2.959000	0.49153	2.678000	0.91216	0.563000	0.77884	ACA		0.433	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2				23	277	0	0	0	0.00333	0	23	277		
ASXL1	171023	broad.mit.edu	37	20	31023699	31023699	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:31023699C>T	ENST00000375687.4	+	13	3608	c.3184C>T	c.(3184-3186)Cct>Tct	p.P1062S	ASXL1_ENST00000306058.5_Missense_Mutation_p.P1057S	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1062					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						GATGGTTGCTCCTCAGAGCTG	0.547			"""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.(3184-3186)CCT>TCT		additional sex combs like 1 isoform 1							195.0	156.0	169.0					20																	31023699		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31023699C>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.3184C>T	20.37:g.31023699C>T	ENSP00000364839:p.Pro1062Ser					ASXL1_uc010geb.2_Missense_Mutation_p.P953S	p.P1062S	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			12	3610	+			1062					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.3184C>T	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	C	8.015	0.758261	0.15846	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.20463	2.07;2.07	4.17	-6.19	0.02078	.	1.223890	0.05275	N	0.518324	T	0.09423	0.0232	N	0.14661	0.345	0.20307	N	0.999915	B;B	0.18461	0.011;0.028	B;B	0.12837	0.006;0.008	T	0.26430	-1.0103	10	0.38643	T	0.18	0.3368	2.655	0.05010	0.1098:0.3387:0.1198:0.4317	.	1057;1062	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	S	1062;1062;1062;983;1057	ENSP00000364839:P1062S;ENSP00000305119:P1057S	ENSP00000305119:P1057S	P	+	1	0	ASXL1	30487360	0.000000	0.05858	0.002000	0.10522	0.627000	0.37826	-1.008000	0.03663	-1.309000	0.02315	-0.258000	0.10820	CCT		0.547	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2		NM_015338		93	156	0	0	0	0.00361	0	93	156		
EDEM2	55741	broad.mit.edu	37	20	33719493	33719493	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:33719493T>A	ENST00000374492.3	-	7	901	c.796A>T	c.(796-798)Aaa>Taa	p.K266*	EDEM2_ENST00000541621.1_Nonsense_Mutation_p.K45*|EDEM2_ENST00000542871.1_5'UTR|EDEM2_ENST00000374491.3_Nonsense_Mutation_p.K229*|EDEM2_ENST00000540582.1_Nonsense_Mutation_p.K225*	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	266					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			ATGGCTCCTTTCACCAAGTAC	0.527																																					Esophageal Squamous(51;906 1021 24535 36410 39145)	uc002xbo.2		NaN																	0					0						c.(796-798)AAA>TAA		ER degradation enhancer, mannosidase alpha-like							147.0	157.0	154.0					20																	33719493		2203	4300	6503	SO:0001587	stop_gained	55741				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr20:33719493T>A	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.796A>T	20.37:g.33719493T>A	ENSP00000363616:p.Lys266*					EDEM2_uc010zuv.1_Nonsense_Mutation_p.K225*|EDEM2_uc010zus.1_Nonsense_Mutation_p.K45*|EDEM2_uc002xbq.2_Nonsense_Mutation_p.K229*|EDEM2_uc010zut.1_Nonsense_Mutation_p.K225*|EDEM2_uc002xbp.2_Nonsense_Mutation_p.K114*|EDEM2_uc002xbn.2_Nonsense_Mutation_p.K114*|EDEM2_uc002xbr.2_Intron|EDEM2_uc010zuu.1_5'UTR	p.K266*	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		7	896	-			266					B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Nonsense_Mutation	SNP	ENST00000374492.3	37	c.796A>T	CCDS13247.1	.	.	.	.	.	.	.	.	.	.	T	44	10.972364	0.99497	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000541621;ENST00000540582	.	.	.	5.87	5.87	0.94306	.	0.039042	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4539	16.2718	0.82624	0.0:0.0:0.0:1.0	.	.	.	.	X	229;266;45;225	.	ENSP00000363615:K229X	K	-	1	0	EDEM2	33183154	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.239000	0.73571	0.528000	0.53228	AAA		0.527	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2		NM_018217		40	357	0	0	0	0.005524	0	40	357		
L3MBTL1	26013	broad.mit.edu	37	20	42159033	42159033	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:42159033C>A	ENST00000427442.2	+	10	1259	c.1100C>A	c.(1099-1101)aCg>aAg	p.T367K	L3MBTL1_ENST00000373135.3_Missense_Mutation_p.T299K|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.T299K|L3MBTL1_ENST00000444063.1_Missense_Mutation_p.T299K|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.T367K			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	299					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TTCGAGAAGACGGGCCACAAG	0.577																																						uc010zwh.1		NaN																	0					0						c.(1099-1101)ACG>AAG		l(3)mbt-like isoform I							104.0	93.0	97.0					20																	42159033		2203	4300	6503	SO:0001583	missense	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42159033C>A	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1100C>A	20.37:g.42159033C>A	ENSP00000402107:p.Thr367Lys					L3MBTL_uc002xkl.2_Missense_Mutation_p.T299K|L3MBTL_uc002xkm.2_Missense_Mutation_p.T299K|L3MBTL_uc010ggl.2_Missense_Mutation_p.T299K|L3MBTL_uc002xkn.1_Missense_Mutation_p.T58K|L3MBTL_uc002xko.2_5'Flank	p.T367K	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		10	1146	+		Myeloproliferative disorder(115;0.00452)	299			MBT 1.		B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	c.1100C>A	CCDS46602.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.255818|5.255818	0.95336|0.95336	.|.	.|.	ENSG00000185513|ENSG00000185513	ENST00000445228|ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861	.|T;T;T;T;T;T	.|0.31247	.|1.5;1.5;1.5;1.5;1.5;1.5	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57227|0.57227	0.2039|0.2039	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;P	.|0.73380	.|0.98;0.912;0.908	T|T	0.58244|0.58244	-0.7670|-0.7670	5|10	.|0.87932	.|D	.|0	.|.	18.7927|18.7927	0.91980|0.91980	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|367;299;299	.|Q9Y468-5;Q9Y468-2;Q9Y468-1	.|.;.;.	E|K	20|367;367;299;299;299;85	.|ENSP00000402107:T367K;ENSP00000398516:T367K;ENSP00000362227:T299K;ENSP00000403316:T299K;ENSP00000362226:T299K;ENSP00000410139:T85K	.|ENSP00000362226:T299K	D|T	+|+	3|2	2|0	L3MBTL1|L3MBTL1	41592447|41592447	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.944000|0.944000	0.59088|0.59088	4.902000|4.902000	0.63266|0.63266	2.735000|2.735000	0.93741|0.93741	0.561000|0.561000	0.74099|0.74099	GAC|ACG		0.577	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3		NM_032107		16	220	1	0	6.49762e-13	0.006122	7.19757e-13	16	220		
MATN4	8785	broad.mit.edu	37	20	43932954	43932954	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:43932954G>A	ENST00000372754.1	-	2	565	c.557C>T	c.(556-558)tCg>tTg	p.S186L	MATN4_ENST00000342716.4_Missense_Mutation_p.S186L|MATN4_ENST00000372756.1_Missense_Mutation_p.S186L|RBPJL_ENST00000372741.3_5'Flank|MATN4_ENST00000360607.6_Missense_Mutation_p.S186L|RBPJL_ENST00000372743.1_5'Flank|MATN4_ENST00000537548.1_Missense_Mutation_p.S186L|MATN4_ENST00000353917.5_Missense_Mutation_p.S186L|RBPJL_ENST00000343694.3_5'Flank|MATN4_ENST00000372751.4_Intron			O95460	MATN4_HUMAN	matrilin 4	186	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TAGCGGGGGCGATGCCATGGC	0.682																																						uc002xnn.2		NaN																	0					0						c.(556-558)TCG>TTG		matrilin 4 isoform 1 precursor							35.0	33.0	34.0					20																	43932954		2200	4295	6495	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43932954G>A	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.557C>T	20.37:g.43932954G>A	ENSP00000361840:p.Ser186Leu					MATN4_uc002xno.2_Missense_Mutation_p.S186L|MATN4_uc002xnp.2_Missense_Mutation_p.S186L|MATN4_uc010zwr.1_Missense_Mutation_p.S134L|MATN4_uc002xnr.1_Missense_Mutation_p.S186L|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	p.S186L	NM_003833	NP_003824	O95460	MATN4_HUMAN			3	744	-		Myeloproliferative disorder(115;0.0122)	186			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.557C>T		.	.	.	.	.	.	.	.	.	.	G	27.2	4.810805	0.90707	.	.	ENSG00000124159	ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132	T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	4.77	3.8	0.43715	.	0.000000	0.40064	N	0.001191	D	0.90120	0.6913	M	0.87381	2.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.998;0.999;0.921	D	0.91632	0.5319	10	0.87932	D	0	.	13.4547	0.61191	0.0:0.0:0.8421:0.1579	.	186;186;186	A6NNA4;O95460-4;O95460-2	.;.;.	L	186	ENSP00000361840:S186L;ENSP00000361842:S186L;ENSP00000243983:S186L;ENSP00000353819:S186L;ENSP00000343164:S186L;ENSP00000440328:S186L	ENSP00000255132:S186L	S	-	2	0	MATN4	43366368	1.000000	0.71417	0.798000	0.32154	0.974000	0.67602	7.686000	0.84128	1.225000	0.43566	0.456000	0.33151	TCG		0.682	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1				49	76	0	0	0	0.00361	0	49	76		
WFDC8	90199	broad.mit.edu	37	20	44181845	44181845	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:44181845G>A	ENST00000357199.4	-	5	594	c.516C>T	c.(514-516)gaC>gaT	p.D172D	WFDC8_ENST00000289953.2_Silent_p.D172D	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	172	WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				GACAATCGATGTCACTGTGAC	0.463																																						uc002xow.2		NaN																	0					0						c.(514-516)GAC>GAT		WAP four-disulfide core domain 8 precursor							141.0	114.0	123.0					20																	44181845		2203	4300	6503	SO:0001819	synonymous_variant	90199					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44181845G>A	AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"""WAP four-disulfide core domain containing"""	16163	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 170"""	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.516C>T	20.37:g.44181845G>A						WFDC8_uc002xox.2_Silent_p.D172D	p.D172D	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN			5	595	-		Myeloproliferative disorder(115;0.0122)	172			WAP 2.		E1P623|Q5TDV2|Q96A34	Silent	SNP	ENST00000357199.4	37	c.516C>T	CCDS13361.1																																																																																				0.463	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1				8	132	0	0	0	0.00308	0	8	132		
SLC2A10	81031	broad.mit.edu	37	20	45354635	45354635	+	Silent	SNP	C	C	A	rs369162285		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:45354635C>A	ENST00000359271.2	+	2	1210	c.960C>A	c.(958-960)gcC>gcA	p.A320A		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	320					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TCAGCTTTGCCGTGCCCATGG	0.657																																						uc002xsl.2		NaN																	0				ovary(1)	1						c.(958-960)GCC>GCA		solute carrier family 2 member 10							64.0	57.0	59.0					20																	45354635		2203	4300	6503	SO:0001819	synonymous_variant	81031					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr20:45354635C>A	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.960C>A	20.37:g.45354635C>A							p.A320A	NM_030777	NP_110404	O95528	GTR10_HUMAN			2	1057	+		Myeloproliferative disorder(115;0.0122)	320			Extracellular (Potential).		A8K4J6|Q3MIX5|Q9H4I6	Silent	SNP	ENST00000359271.2	37	c.960C>A	CCDS13402.1																																																																																				0.657	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2				22	114	1	0	1.10923e-09	0.00278	1.20906e-09	22	114		
ADRM1	11047	broad.mit.edu	37	20	60882815	60882815	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:60882815C>T	ENST00000253003.2	+	7	833	c.787C>T	c.(787-789)Cag>Tag	p.Q263*	RP11-157P1.4_ENST00000414042.1_RNA|LAMA5_ENST00000492698.1_5'Flank	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	263					positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			CCAGCCCATCCAGCTGAGCGA	0.677																																						uc002ycn.2		NaN																	0					0						c.(787-789)CAG>TAG		adhesion regulating molecule 1 precursor							19.0	24.0	23.0					20																	60882815		2193	4294	6487	SO:0001587	stop_gained	11047				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding	g.chr20:60882815C>T	D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.787C>T	20.37:g.60882815C>T	ENSP00000253003:p.Gln263*					ADRM1_uc002yco.2_Nonsense_Mutation_p.Q263*	p.Q263*	NM_007002	NP_008933	Q16186	ADRM1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.51e-06)		7	867	+	Breast(26;7.76e-09)		263					A0PKB1|Q96FJ7|Q9H1P2	Nonsense_Mutation	SNP	ENST00000253003.2	37	c.787C>T	CCDS13496.1	.	.	.	.	.	.	.	.	.	.	C	37	6.077011	0.97262	.	.	ENSG00000130706	ENST00000370744;ENST00000253003	.	.	.	5.25	4.3	0.51218	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-18.1143	15.5283	0.75928	0.0:0.8612:0.1388:0.0	.	.	.	.	X	242;263	.	ENSP00000253003:Q263X	Q	+	1	0	ADRM1	60316210	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.363000	0.79516	1.195000	0.43115	0.561000	0.74099	CAG		0.677	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080007.1				7	41	0	0	0	0.00308	0	7	41		
EEF1A2	1917	broad.mit.edu	37	20	62120282	62120282	+	Missense_Mutation	SNP	T	T	G	rs200931909		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:62120282T>G	ENST00000298049.7	-	6	1323	c.1253A>C	c.(1252-1254)tAc>tCc	p.Y418S	EEF1A2_ENST00000217182.3_Missense_Mutation_p.Y418S			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	418					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)	p.Y418S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GAGAGGCGGGTACTGGGAGAA	0.667																																						uc002yfd.1		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(1252-1254)TAC>TCC		eukaryotic translation elongation factor 1 alpha							28.0	29.0	29.0					20																	62120282		2189	4283	6472	SO:0001583	missense	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62120282T>G	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.1253A>C	20.37:g.62120282T>G	ENSP00000298049:p.Tyr418Ser					EEF1A2_uc002yfe.1_Missense_Mutation_p.Y418S|EEF1A2_uc010gkg.1_Intron	p.Y418S	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		6	1354	-	all_cancers(38;9.45e-12)		418					B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	37	c.1253A>C	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.511359	0.64522	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.44881	0.91;0.91	3.12	3.12	0.35913	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.170048	0.39759	N	0.001263	T	0.74405	0.3712	H	0.96142	3.775	0.80722	D	1	P	0.39696	0.683	D	0.68039	0.955	T	0.79629	-0.1724	10	0.87932	D	0	-10.4709	11.6664	0.51376	0.0:0.0:0.0:1.0	.	418	Q05639	EF1A2_HUMAN	S	418	ENSP00000298049:Y418S;ENSP00000217182:Y418S	ENSP00000217182:Y418S	Y	-	2	0	EEF1A2	61590726	1.000000	0.71417	0.999000	0.59377	0.696000	0.40369	5.966000	0.70395	1.187000	0.43000	0.392000	0.25879	TAC		0.667	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1		NM_001958		12	43	0	0	0	0.007835	0	12	43		
MYT1	4661	broad.mit.edu	37	20	62850332	62850332	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:62850332C>T	ENST00000328439.1	+	12	2279	c.1915C>T	c.(1915-1917)Cgc>Tgc	p.R639C	MYT1_ENST00000360149.4_Missense_Mutation_p.R341C|MYT1_ENST00000536311.1_Missense_Mutation_p.R666C	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCTCTCCACGCGCTGCTGGGA	0.572																																					GBM(59;481 1041 20555 21139 33705)	uc002yii.2		NaN																	0				ovary(2)	2						c.(1915-1917)CGC>TGC		myelin transcription factor 1							69.0	59.0	62.0					20																	62850332		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62850332C>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1915C>T	20.37:g.62850332C>T	ENSP00000327465:p.Arg639Cys					MYT1_uc002yih.2_Missense_Mutation_p.R341C|MYT1_uc002yij.2_Missense_Mutation_p.R298C	p.R639C	NM_004535	NP_004526	Q01538	MYT1_HUMAN			12	2279	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		639					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.1915C>T	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158521	0.78114	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.61158	0.13;0.13;0.13	5.35	5.35	0.76521	Myelin transcription factor 1 (1);	0.000000	0.85682	D	0.000000	T	0.77471	0.4135	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;D;D	0.91635	0.899;0.967;0.999	T	0.79584	-0.1743	10	0.87932	D	0	-29.2026	19.4168	0.94704	0.0:1.0:0.0:0.0	.	666;639;341	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	C	341;639;666	ENSP00000353269:R341C;ENSP00000327465:R639C;ENSP00000442412:R666C	ENSP00000327465:R639C	R	+	1	0	MYT1	62320776	1.000000	0.71417	0.960000	0.40013	0.946000	0.59487	7.660000	0.83776	2.648000	0.89879	0.655000	0.94253	CGC		0.572	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1		NM_004535		14	127	0	0	0	0.001855	0	14	127		
N6AMT1	29104	broad.mit.edu	37	21	30255351	30255351	+	Silent	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr21:30255351T>C	ENST00000303775.5	-	2	202	c.177A>G	c.(175-177)gtA>gtG	p.V59V	N6AMT1_ENST00000351429.3_Silent_p.V59V	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	59					positive regulation of cell growth (GO:0030307)|protein methylation (GO:0006479)	protein complex (GO:0043234)	nucleic acid binding (GO:0003676)|protein methyltransferase activity (GO:0008276)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						GGAATGCAGATACTACACCAG	0.353																																						uc002ymo.1		NaN																	0					0						c.(175-177)GTA>GTG		N-6 adenine-specific DNA methyltransferase 1							101.0	91.0	94.0					21																	30255351		2203	4300	6503	SO:0001819	synonymous_variant	29104				positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity	g.chr21:30255351T>C	AF139682	CCDS33525.1, CCDS33526.1	21q21.3	2006-12-14	2006-12-14	2006-12-14	ENSG00000156239	ENSG00000156239	2.1.1.72		16021	protein-coding gene	gene with protein product		614553	"""chromosome 21 open reading frame 127"", ""HemK methyltransferase family member 2"""	C21orf127, HEMK2			Standard	NM_013240		Approved	PRED28, N6AMT, MTQ2	uc002ymo.2	Q9Y5N5	OTTHUMG00000078750	ENST00000303775.5:c.177A>G	21.37:g.30255351T>C						N6AMT1_uc002ymp.1_Silent_p.V59V|N6AMT1_uc002ymq.1_RNA	p.V59V	NM_013240	NP_037372	Q9Y5N5	HEMK2_HUMAN			2	203	-			59					Q96F73	Silent	SNP	ENST00000303775.5	37	c.177A>G	CCDS33526.1																																																																																				0.353	N6AMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171738.1		NM_013240		12	86	0	0	0	0.001855	0	12	86		
ABCG1	9619	broad.mit.edu	37	21	43704774	43704774	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr21:43704774T>C	ENST00000361802.2	+	7	984	c.839T>C	c.(838-840)cTc>cCc	p.L280P	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Missense_Mutation_p.L291P|ABCG1_ENST00000398457.2_Missense_Mutation_p.L282P|ABCG1_ENST00000398437.1_Missense_Mutation_p.L426P|ABCG1_ENST00000340588.4_Missense_Mutation_p.L388P|ABCG1_ENST00000398449.3_Missense_Mutation_p.L280P|ABCG1_ENST00000347800.2_Missense_Mutation_p.L277P	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	280	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	AGCGCCAAACTCTTCGAGCTG	0.627																																						uc002zaq.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(838-840)CTC>CCC		ATP-binding cassette sub-family G member 1	Adenosine triphosphate(DB00171)						80.0	79.0	79.0					21																	43704774		2203	4300	6503	SO:0001583	missense	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43704774T>C	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.839T>C	21.37:g.43704774T>C	ENSP00000354995:p.Leu280Pro					ABCG1_uc002zan.2_Missense_Mutation_p.L282P|ABCG1_uc002zam.2_Missense_Mutation_p.L258P|ABCG1_uc002zao.2_Missense_Mutation_p.L277P|ABCG1_uc002zap.2_Missense_Mutation_p.L280P|ABCG1_uc002zar.2_Missense_Mutation_p.L291P|ABCG1_uc011aev.1_Missense_Mutation_p.L291P|ABCG1_uc010gpb.1_5'Flank	p.L280P	NM_004915	NP_004906	P45844	ABCG1_HUMAN			7	945	+			280			Cytoplasmic (Potential).|ABC transporter.		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	37	c.839T>C	CCDS13682.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.164437	0.78339	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	T;T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12;1.12	4.22	4.22	0.49857	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.075873	0.53938	D	0.000052	T	0.56775	0.2008	L	0.60904	1.88	0.80722	D	1	D;P;D;D;P;D	0.71674	0.998;0.942;0.987;0.992;0.942;0.969	D;D;D;P;D;P	0.64687	0.928;0.919;0.928;0.905;0.919;0.839	T	0.57400	-0.7818	9	.	.	.	-33.6151	13.6189	0.62126	0.0:0.0:0.0:1.0	.	291;291;280;280;277;282	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	P	282;277;280;280;291;426;388	ENSP00000381475:L282P;ENSP00000291524:L277P;ENSP00000381467:L280P;ENSP00000354995:L280P;ENSP00000339744:L291P;ENSP00000381464:L426P;ENSP00000343820:L388P	.	L	+	2	0	ABCG1	42577843	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.613000	0.82986	1.679000	0.50963	0.482000	0.46254	CTC		0.627	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2		NM_207174		15	157	0	0	0	0.008871	0	15	157		
PCNT	5116	broad.mit.edu	37	21	47858159	47858159	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr21:47858159C>T	ENST00000359568.5	+	41	9289	c.9182C>T	c.(9181-9183)aCg>aTg	p.T3061M	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3061	Interaction with NEK2.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCGCTCAGCACGGTGACCCAG	0.512																																						uc002zji.3		NaN																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(9181-9183)ACG>ATG		pericentrin							70.0	63.0	65.0					21																	47858159		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47858159C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.9182C>T	21.37:g.47858159C>T	ENSP00000352572:p.Thr3061Met					PCNT_uc002zjj.2_Missense_Mutation_p.T2864M	p.T3061M	NM_006031	NP_006022	O95613	PCNT_HUMAN			41	9289	+	Breast(49;0.112)		3061			Interaction with NEK2.|Potential.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.9182C>T	CCDS33592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.314|2.314	-0.357335|-0.357335	0.05138|0.05138	.|.	.|.	ENSG00000160299|ENSG00000160299	ENST00000418394|ENST00000359568	.|T	.|0.01538	.|4.79	5.38|5.38	1.47|1.47	0.22746|0.22746	.|.	.|0.518647	.|0.14718	.|N	.|0.302533	T|T	0.01156|0.01156	0.0038|0.0038	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|P;P	.|0.38745	.|0.645;0.513	.|B;B	.|0.28011	.|0.085;0.039	T|T	0.52689|0.52689	-0.8542|-0.8542	5|10	.|0.36615	.|T	.|0.2	.|.	7.3629|7.3629	0.26756|0.26756	0.0:0.6266:0.0:0.3734|0.0:0.6266:0.0:0.3734	.|.	.|2864;3061	.|O95613-2;O95613	.|.;PCNT_HUMAN	W|M	42|3061	.|ENSP00000352572:T3061M	.|ENSP00000352572:T3061M	R|T	+|+	1|2	2|0	PCNT|PCNT	46682587|46682587	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.003000|0.003000	0.03518|0.03518	0.516000|0.516000	0.22817|0.22817	-0.004000|-0.004000	0.14419|0.14419	-0.136000|-0.136000	0.14681|0.14681	CGG|ACG		0.512	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1		NM_006031		8	104	0	0	0	0.00308	0	8	104		
TCN2	6948	broad.mit.edu	37	22	31013431	31013431	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr22:31013431G>A	ENST00000215838.3	+	7	1549	c.1055G>A	c.(1054-1056)gGg>gAg	p.G352E	TCN2_ENST00000405742.3_Missense_Mutation_p.G348E|TCN2_ENST00000407817.3_Missense_Mutation_p.G325E			P20062	TCO2_HUMAN	transcobalamin II	352					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTCTGGCCGGGTCCACCGTG	0.572																																						uc003aip.1		NaN																	0				central_nervous_system(1)	1						c.(1054-1056)GGG>GAG		transcobalamin II precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						125.0	98.0	107.0					22																	31013431		2203	4300	6503	SO:0001583	missense	6948				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	g.chr22:31013431G>A		CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.1055G>A	22.37:g.31013431G>A	ENSP00000215838:p.Gly352Glu					TCN2_uc003aiq.1_Missense_Mutation_p.G348E|TCN2_uc003air.1_Missense_Mutation_p.G325E	p.G352E	NM_000355	NP_000346	P20062	TCO2_HUMAN			7	1213	+			352					Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	37	c.1055G>A	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328845	0.60743	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.36520	1.25;1.25;1.25	5.26	3.18	0.36537	.	0.097447	0.64402	N	0.000001	T	0.54967	0.1891	M	0.85859	2.78	0.18873	N	0.999985	D;D;D	0.76494	0.994;0.999;0.999	P;P;P	0.59703	0.826;0.862;0.862	T	0.49952	-0.8884	10	0.62326	D	0.03	-13.2958	8.2841	0.31917	0.1832:0.0:0.8168:0.0	.	325;348;352	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	E	352;348;325	ENSP00000215838:G352E;ENSP00000385914:G348E;ENSP00000384914:G325E	ENSP00000215838:G352E	G	+	2	0	TCN2	29343431	0.939000	0.31865	0.002000	0.10522	0.045000	0.14185	3.184000	0.50926	0.733000	0.32492	0.650000	0.86243	GGG		0.572	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2		NM_000355		30	75	0	0	0	0.007291	0	30	75		
EFCAB6	64800	broad.mit.edu	37	22	43950813	43950813	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr22:43950813G>T	ENST00000262726.7	-	27	3837	c.3584C>A	c.(3583-3585)aCc>aAc	p.T1195N	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.T1043N	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1195	EF-hand 13. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TCTGGAGATGGTGTTCGTTTT	0.527																																						uc003bdy.1		NaN																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(3583-3585)ACC>AAC		CAP-binding protein complex interacting protein							158.0	147.0	151.0					22																	43950813		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43950813G>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3584C>A	22.37:g.43950813G>T	ENSP00000262726:p.Thr1195Asn					EFCAB6_uc003bdz.1_Missense_Mutation_p.T1043N|EFCAB6_uc010gzi.1_Missense_Mutation_p.T1043N|EFCAB6_uc010gzj.1_Missense_Mutation_p.T421N	p.T1195N	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			27	3799	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1195			EF-hand 13.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.3584C>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028175	0.35797	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.08634	3.07;3.07	4.88	3.83	0.44106	EF-hand-like domain (1);	0.069763	0.56097	D	0.000039	T	0.21468	0.0517	M	0.65975	2.015	0.58432	D	0.999998	D;D	0.76494	0.999;0.998	D;D	0.68943	0.961;0.96	T	0.00443	-1.1736	10	0.27785	T	0.31	-13.1609	10.7539	0.46225	0.0917:0.0:0.9083:0.0	.	1043;1195	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	N	1043;1195	ENSP00000379533:T1043N;ENSP00000262726:T1195N	ENSP00000262726:T1195N	T	-	2	0	EFCAB6	42282146	0.939000	0.31865	0.166000	0.22797	0.011000	0.07611	2.412000	0.44609	2.532000	0.85374	0.655000	0.94253	ACC		0.527	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1		NM_022785		26	191	1	0	4.7796e-09	0.004656	5.1787e-09	26	191		
TSEN2	80746	broad.mit.edu	37	3	12571305	12571305	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:12571305C>G	ENST00000284995.6	+	10	1568	c.1181C>G	c.(1180-1182)tCt>tGt	p.S394C	TSEN2_ENST00000402228.3_Missense_Mutation_p.S394C|C3orf83_ENST00000567514.1_Intron|TSEN2_ENST00000454502.2_Missense_Mutation_p.S335C|TSEN2_ENST00000444864.1_Missense_Mutation_p.S368C|TSEN2_ENST00000383797.5_Missense_Mutation_p.S377C|TSEN2_ENST00000314571.7_Missense_Mutation_p.S368C|TSEN2_ENST00000415684.1_Missense_Mutation_p.S368C	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	394					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						TTTGAAGGCTCTCTCCGCAGG	0.403																																						uc003bxc.2		NaN																	0				central_nervous_system(1)	1						c.(1180-1182)TCT>TGT		tRNA-intron nuclease 2 isoform 1							106.0	102.0	103.0					3																	12571305		2203	4300	6503	SO:0001583	missense	80746				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr3:12571305C>G	BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"""tRNA splicing endonuclease subunits"""	28422	protein-coding gene	gene with protein product		608753	"""tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)"", ""tRNA splicing endonuclease 2 homolog (S. cerevisiae)"""			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.1181C>G	3.37:g.12571305C>G	ENSP00000284995:p.Ser394Cys					TSEN2_uc003bwz.2_Missense_Mutation_p.S335C|TSEN2_uc003bxa.2_Missense_Mutation_p.S368C|TSEN2_uc011auq.1_Missense_Mutation_p.S368C|TSEN2_uc003bxb.2_Missense_Mutation_p.S394C|TSEN2_uc011aur.1_Missense_Mutation_p.S303C	p.S394C	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN			10	1568	+			394					B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Missense_Mutation	SNP	ENST00000284995.6	37	c.1181C>G	CCDS2611.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.494736	0.26774	.	.	ENSG00000154743	ENST00000314571;ENST00000454502;ENST00000383797;ENST00000402228;ENST00000284995;ENST00000444864;ENST00000537959;ENST00000415684	T;T;T;T;T;T;T	0.58358	0.39;0.37;0.37;0.34;0.34;0.4;0.39	5.99	4.21	0.49690	tRNA intron endonuclease, catalytic domain-like (2);Endonuclease TnsA, N-terminal/resolvase Hjc/tRNA endonuclease, C-terminal (1);	0.369178	0.31772	N	0.007081	T	0.56934	0.2019	M	0.75777	2.31	0.09310	N	0.999994	B;B;B;B	0.14438	0.004;0.002;0.01;0.001	B;B;B;B	0.18561	0.022;0.003;0.013;0.003	T	0.51371	-0.8714	10	0.54805	T	0.06	-2.4269	17.7276	0.88369	0.0:0.7678:0.2322:0.0	.	368;394;368;335	G5E9Q3;Q8NCE0;Q8NCE0-3;C9IZI7	.;SEN2_HUMAN;.;.	C	368;335;377;394;394;368;367;368	ENSP00000323188:S368C;ENSP00000392029:S335C;ENSP00000373307:S377C;ENSP00000385976:S394C;ENSP00000284995:S394C;ENSP00000407974:S368C;ENSP00000416510:S368C	ENSP00000284995:S394C	S	+	2	0	TSEN2	12546305	0.006000	0.16342	0.072000	0.20136	0.967000	0.64934	1.953000	0.40352	0.432000	0.26286	-0.795000	0.03280	TCT		0.403	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1		NM_025265		56	120	0	0	0	0.00361	0	56	120		
ZNF445	353274	broad.mit.edu	37	3	44490077	44490077	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:44490077C>T	ENST00000396077.2	-	8	1433	c.1086G>A	c.(1084-1086)aaG>aaA	p.K362K	ZNF445_ENST00000425708.2_Silent_p.K362K	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	362					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CACATTGATCCTTCTGCCTGC	0.418																																						uc003cnf.2		NaN																	0				ovary(1)	1						c.(1084-1086)AAG>AAA		zinc finger protein 445							106.0	106.0	106.0					3																	44490077		2203	4300	6503	SO:0001819	synonymous_variant	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44490077C>T	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.1086G>A	3.37:g.44490077C>T						ZNF445_uc011azv.1_Silent_p.K350K|ZNF445_uc011azw.1_Silent_p.K362K	p.K362K	NM_181489	NP_852466	P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	8	1434	-			362					Q3MJD1	Silent	SNP	ENST00000396077.2	37	c.1086G>A	CCDS2713.1																																																																																				0.418	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2		NM_181489		16	80	0	0	0	0.004007	0	16	80		
WDR82	80335	broad.mit.edu	37	3	52294439	52294439	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:52294439C>T	ENST00000296490.3	-	5	786	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	169					histone H3-K4 methylation (GO:0051568)	chromatin (GO:0000785)|histone methyltransferase complex (GO:0035097)|PTW/PP1 phosphatase complex (GO:0072357)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TTGACCATTTCAGAGTTGACA	0.373																																						uc003ddl.2		NaN																	0					0						c.(505-507)GAA>AAA		WD repeat domain 82							67.0	62.0	63.0					3																	52294439		1867	4102	5969	SO:0001583	missense	80335				histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding	g.chr3:52294439C>T	AF132207	CCDS2851.2	3p21.2	2013-01-10	2007-07-04	2007-07-04	ENSG00000164091	ENSG00000164091		"""WD repeat domain containing"""	28826	protein-coding gene	gene with protein product		611059	"""transmembrane protein 113"""	TMEM113		17355966	Standard	NM_025222		Approved	PRO2730, MST107, MSTP107, PRO34047, WDR82A, SWD2	uc003ddl.2	Q6UXN9	OTTHUMG00000150391	ENST00000296490.3:c.505G>A	3.37:g.52294439C>T	ENSP00000296490:p.Glu169Lys					WDR82_uc003ddk.2_Missense_Mutation_p.E94K	p.E169K	NM_025222	NP_079498	Q6UXN9	WDR82_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)	5	787	-			169			WD 3.		A8K5R5|Q8TEB2	Missense_Mutation	SNP	ENST00000296490.3	37	c.505G>A	CCDS2851.2	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858453	0.71834	.	.	ENSG00000164091	ENST00000296490;ENST00000469000	T;T	0.15834	2.39;2.39	5.63	5.63	0.86233	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.19167	0.0460	L	0.52573	1.65	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.08055	0.002;0.003	T	0.09228	-1.0684	10	0.13853	T	0.58	-8.1698	19.6721	0.95915	0.0:1.0:0.0:0.0	.	169;55	Q6UXN9;C9JBU3	WDR82_HUMAN;.	K	169;55	ENSP00000296490:E169K;ENSP00000420779:E55K	ENSP00000296490:E169K	E	-	1	0	WDR82	52269479	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.594000	0.82698	2.637000	0.89404	0.650000	0.86243	GAA		0.373	WDR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317919.1		NM_025222		15	47	0	0	0	0.003163	0	15	47		
DNAH1	25981	broad.mit.edu	37	3	52398863	52398863	+	Silent	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:52398863C>G	ENST00000420323.2	+	34	5607	c.5346C>G	c.(5344-5346)ctC>ctG	p.L1782L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1782					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGATCTGCCTCCGGGCCATCC	0.637																																						uc011bef.1		NaN																	0				large_intestine(3)	3						c.(5344-5346)CTC>CTG		dynein, axonemal, heavy chain 1							61.0	65.0	64.0					3																	52398863		2151	4263	6414	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52398863C>G	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5346C>G	3.37:g.52398863C>G							p.L1782L	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	34	5607	+			1782					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.5346C>G	CCDS46842.1																																																																																				0.637	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1		NM_015512		16	51	0	0	0	0.004007	0	16	51		
GNL3	26354	broad.mit.edu	37	3	52725636	52725636	+	Missense_Mutation	SNP	G	G	A	rs554654528		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:52725636G>A	ENST00000418458.1	+	9	1033	c.860G>A	c.(859-861)gGg>gAg	p.G287E	SNORD19_ENST00000391191.1_RNA|SNORD69_ENST00000391150.1_RNA|SNORD19B_ENST00000459623.1_RNA|SNORD19_ENST00000410413.1_RNA|GNL3_ENST00000394799.2_Missense_Mutation_p.G275E|SNORD19B_ENST00000516978.1_RNA	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	287	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.|Intermediate. {ECO:0000250}.				cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		GTATCCATGGGGCTTACAAGG	0.323																																						uc003dfd.2		NaN																	0					0						c.(859-861)GGG>GAG		guanine nucleotide binding protein-like 3							102.0	98.0	99.0					3																	52725636		2203	4300	6503	SO:0001583	missense	26354				regulation of cell proliferation	nucleolus	GTP binding|protein binding	g.chr3:52725636G>A	AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000418458.1:c.860G>A	3.37:g.52725636G>A	ENSP00000395772:p.Gly287Glu					GNL3_uc003dfe.2_Missense_Mutation_p.G275E|GNL3_uc003dff.2_Missense_Mutation_p.G275E|SNORD69_uc003dfh.1_5'Flank	p.G287E	NM_014366	NP_055181	Q9BVP2	GNL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)	9	1033	+			287			G.|Intermediate (By similarity).		B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Missense_Mutation	SNP	ENST00000418458.1	37	c.860G>A	CCDS2861.1	.	.	.	.	.	.	.	.	.	.	G	31	5.099905	0.94197	.	.	ENSG00000163938	ENST00000418458;ENST00000394799	T;T	0.23754	1.89;1.89	5.81	5.81	0.92471	GTP-binding domain, HSR1-related (1);	0.000000	0.85682	D	0.000000	T	0.64864	0.2637	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73646	-0.3917	10	0.87932	D	0	.	20.0726	0.97729	0.0:0.0:1.0:0.0	.	287	Q9BVP2	GNL3_HUMAN	E	287;275	ENSP00000395772:G287E;ENSP00000378278:G275E	ENSP00000378278:G275E	G	+	2	0	GNL3	52700676	1.000000	0.71417	0.992000	0.48379	0.969000	0.65631	9.404000	0.97306	2.738000	0.93877	0.655000	0.94253	GGG		0.323	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352032.1		NM_014366		5	31	0	0	0	0.001168	0	5	31		
ACOX2	8309	broad.mit.edu	37	3	58519231	58519231	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:58519231G>T	ENST00000302819.5	-	5	815	c.524C>A	c.(523-525)aCc>aAc	p.T175N	ACOX2_ENST00000459701.2_Missense_Mutation_p.T175N	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	175					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		AAACTCCTGGGTGGCTGCGTC	0.542											OREG0015638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003dkl.2		NaN																	0					0						c.(523-525)ACC>AAC		acyl-Coenzyme A oxidase 2							169.0	167.0	168.0					3																	58519231		2203	4300	6503	SO:0001583	missense	8309				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	g.chr3:58519231G>T	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.524C>A	3.37:g.58519231G>T	ENSP00000307697:p.Thr175Asn		OREG0015638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1031		p.T175N	NM_003500	NP_003491	Q99424	ACOX2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	5	699	-			175					A6NF16|B2R8U5	Missense_Mutation	SNP	ENST00000302819.5	37	c.524C>A	CCDS33775.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978584	0.53720	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	T;T	0.63255	-0.03;-0.03	4.85	3.0	0.34707	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.085211	0.49916	D	0.000132	T	0.71341	0.3328	M	0.74467	2.265	0.58432	D	0.999997	P	0.49253	0.921	P	0.51742	0.678	T	0.75363	-0.3344	10	0.66056	D	0.02	-6.0684	14.9805	0.71309	0.0:0.2704:0.7296:0.0	.	175	Q99424	ACOX2_HUMAN	N	175	ENSP00000418562:T175N;ENSP00000307697:T175N	ENSP00000307697:T175N	T	-	2	0	ACOX2	58494271	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	5.651000	0.67951	0.534000	0.28695	0.561000	0.74099	ACC		0.542	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1				10	144	1	0	2.80697e-09	0.010729	3.04741e-09	10	144		
FOXP1	27086	broad.mit.edu	37	3	71050168	71050168	+	Silent	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:71050168G>T	ENST00000318789.4	-	13	1542	c.1017C>A	c.(1015-1017)gcC>gcA	p.A339A	FOXP1_ENST00000493089.1_Silent_p.A339A|FOXP1_ENST00000475937.1_Silent_p.A339A|FOXP1_ENST00000468577.1_Silent_p.A339A|FOXP1_ENST00000491238.1_Silent_p.A341A|FOXP1_ENST00000498215.1_Silent_p.A339A|FOXP1_ENST00000484350.1_Silent_p.A263A	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	339					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CTCTACATTGGGCTGTACTTC	0.353			T	PAX5	ALL																																	uc003dol.2		NaN		Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				ovary(1)|lung(1)	2						c.(1015-1017)GCC>GCA		forkhead box P1 isoform 1							165.0	142.0	150.0					3																	71050168		2203	4300	6503	SO:0001819	synonymous_variant	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71050168G>T	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1017C>A	3.37:g.71050168G>T						FOXP1_uc003dom.2_Silent_p.A263A|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Silent_p.A339A|FOXP1_uc003dop.2_Silent_p.A339A|FOXP1_uc003doq.1_Silent_p.A338A|FOXP1_uc003doi.2_Silent_p.A239A|FOXP1_uc003doj.2_Silent_p.A239A|FOXP1_uc003dok.2_Silent_p.A152A|FOXP1_uc003dor.1_Silent_p.A117A	p.A339A	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	9	1340	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	339					A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Silent	SNP	ENST00000318789.4	37	c.1017C>A	CCDS2914.1																																																																																				0.353	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1		NM_032682		17	74	1	0	0.00741294	0.007413	0.00756564	17	74		
DPPA2	151871	broad.mit.edu	37	3	109027098	109027098	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:109027098A>C	ENST00000478945.1	-	6	685	c.439T>G	c.(439-441)Tcg>Gcg	p.S147A		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	147					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGTTTCCTCGAACATCGCTGT	0.433																																						uc003dxo.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(439-441)TCG>GCG		developmental pluripotency associated 2							145.0	123.0	130.0					3																	109027098		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109027098A>C	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.439T>G	3.37:g.109027098A>C	ENSP00000417710:p.Ser147Ala						p.S147A	NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN			6	686	-			147					Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.439T>G	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	A	8.325	0.825099	0.16678	.	.	ENSG00000163530	ENST00000478945	T	0.56275	0.47	4.07	-1.23	0.09465	.	1.473320	0.04152	N	0.321571	T	0.49081	0.1536	L	0.58101	1.795	0.09310	N	1	P	0.43024	0.798	P	0.44673	0.457	T	0.34329	-0.9833	10	0.26408	T	0.33	-0.0612	3.2457	0.06796	0.5013:0.0:0.3197:0.179	.	147	Q7Z7J5	DPPA2_HUMAN	A	147	ENSP00000417710:S147A	ENSP00000417710:S147A	S	-	1	0	DPPA2	110509788	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.141000	0.10327	-0.194000	0.10399	0.454000	0.30748	TCG		0.433	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1		NM_138815		13	116	0	0	0	0.001368	0	13	116		
SIDT1	54847	broad.mit.edu	37	3	113303564	113303564	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:113303564G>C	ENST00000264852.4	+	8	1581	c.855G>C	c.(853-855)tgG>tgC	p.W285C	SIDT1_ENST00000393830.3_Missense_Mutation_p.W285C	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	285					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						ACCAGACCTGGAATCTACAGC	0.358																																						uc003eak.2		NaN																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(853-855)TGG>TGC		SID1 transmembrane family, member 1 precursor							105.0	105.0	105.0					3																	113303564		2203	4300	6503	SO:0001583	missense	54847					integral to membrane		g.chr3:113303564G>C	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.855G>C	3.37:g.113303564G>C	ENSP00000264852:p.Trp285Cys					SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.W285C|SIDT1_uc011big.1_Missense_Mutation_p.W38C	p.W285C	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN			8	1506	+			285			Extracellular (Potential).		Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.855G>C	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700207	0.48307	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.22134	1.97;1.97	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000007	T	0.40347	0.1113	L	0.44542	1.39	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.68765	0.96;0.957	T	0.01553	-1.1326	10	0.38643	T	0.18	-7.9972	19.7753	0.96389	0.0:0.0:1.0:0.0	.	285;285	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	C	285	ENSP00000264852:W285C;ENSP00000377416:W285C	ENSP00000264852:W285C	W	+	3	0	SIDT1	114786254	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	6.368000	0.73104	2.753000	0.94483	0.655000	0.94253	TGG		0.358	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1		NM_017699		10	96	0	0	0	0.001368	0	10	96		
IGSF11	152404	broad.mit.edu	37	3	118623621	118623621	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:118623621A>G	ENST00000393775.2	-	6	1033	c.728T>C	c.(727-729)aTa>aCa	p.I243T	IGSF11_ENST00000491903.1_Intron|IGSF11_ENST00000425327.2_Missense_Mutation_p.I242T|IGSF11_ENST00000354673.2_Missense_Mutation_p.I242T|IGSF11_ENST00000489689.1_Missense_Mutation_p.I219T|IGSF11_ENST00000441144.2_Missense_Mutation_p.I218T	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	243					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGCTCCAGCTATTAGTCCAAT	0.358																																						uc003ebw.2		NaN																	0					0						c.(727-729)ATA>ACA		immunoglobulin superfamily, member 11 isoform b							103.0	117.0	112.0					3																	118623621		2202	4300	6502	SO:0001583	missense	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118623621A>G	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.728T>C	3.37:g.118623621A>G	ENSP00000377370:p.Ile243Thr					IGSF11_uc011biv.1_Intron|IGSF11_uc003ebx.2_Missense_Mutation_p.I219T|IGSF11_uc003eby.2_Missense_Mutation_p.I242T|IGSF11_uc003ebz.2_Missense_Mutation_p.I218T|IGSF11_uc010hqs.2_Missense_Mutation_p.I242T	p.I243T	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN			6	975	-			243			Helical; (Potential).		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	c.728T>C	CCDS46891.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.126730	0.77549	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144	T;T;D;T;D	0.86769	-1.18;-1.43;-2.17;-1.18;-2.09	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.90899	0.7140	L	0.50333	1.59	0.80722	D	1	P;D;P;D	0.89917	0.836;1.0;0.942;0.999	P;D;P;D	0.85130	0.603;0.997;0.724;0.991	D	0.89247	0.3588	10	0.30078	T	0.28	.	14.9876	0.71359	1.0:0.0:0.0:0.0	.	218;242;219;243	Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;IGS11_HUMAN	T	242;243;219;242;218	ENSP00000406092:I242T;ENSP00000377370:I243T;ENSP00000420486:I219T;ENSP00000346700:I242T;ENSP00000401240:I218T	ENSP00000346700:I242T	I	-	2	0	IGSF11	120106311	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	8.655000	0.91098	2.323000	0.78572	0.533000	0.62120	ATA		0.358	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2				59	248	0	0	0	0.00361	0	59	248		
KALRN	8997	broad.mit.edu	37	3	124436142	124436142	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:124436142G>A	ENST00000291478.5	+	26	3397	c.3234G>A	c.(3232-3234)ctG>ctA	p.L1078L	KALRN_ENST00000360013.3_Silent_p.L2775L|KALRN_ENST00000428018.2_Silent_p.L1046L	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2774					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATGATGAACTGATGGAGGAAA	0.413																																						uc003ehg.2		NaN																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(8323-8325)CTG>CTA		kalirin, RhoGEF kinase isoform 1							122.0	115.0	117.0					3																	124436142		2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124436142G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.3234G>A	3.37:g.124436142G>A						KALRN_uc003ehk.2_Silent_p.L1078L	p.L2775L	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			59	8452	+			2774			Protein kinase.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000291478.5	37	c.8325G>A	CCDS3028.1																																																																																				0.413	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5		NM_003947		71	82	0	0	0	0.00361	0	71	82		
UROC1	131669	broad.mit.edu	37	3	126208204	126208204	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:126208204C>T	ENST00000290868.2	-	17	1676	c.1623G>A	c.(1621-1623)ctG>ctA	p.L541L	UROC1_ENST00000383579.3_Silent_p.L601L	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	541					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GATCTCGGCTCAGGACCACCG	0.582																																						uc003eiz.1		NaN																	0				ovary(1)	1						c.(1621-1623)CTG>CTA		urocanase domain containing 1 isoform 1							111.0	99.0	103.0					3																	126208204		2203	4300	6503	SO:0001819	synonymous_variant	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126208204C>T	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1623G>A	3.37:g.126208204C>T						UROC1_uc010hsi.1_Silent_p.L601L	p.L541L	NM_144639	NP_653240	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	17	1655	-			541					E9PE13|Q14C64|Q68CJ7	Silent	SNP	ENST00000290868.2	37	c.1623G>A	CCDS3038.1																																																																																				0.582	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2		NM_144639		87	148	0	0	0	0.00361	0	87	148		
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:126707544T>G	ENST00000393409.2	+	1	108	c.108T>G	c.(106-108)ggT>ggG	p.G36G	PLXNA1_ENST00000251772.4_Silent_p.G13G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682																																						uc003ejg.2		NaN																	4	Substitution - coding silent(4)		lung(2)|kidney(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(37-39)GGT>GGG		plexin A1							26.0	27.0	27.0					3																	126707544		2203	4300	6503	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126707544T>G	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.108T>G	3.37:g.126707544T>G							p.G13G	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	43	+			36			Sema.|Extracellular (Potential).			Silent	SNP	ENST00000393409.2	37	c.39T>G	CCDS33847.2																																																																																				0.682	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1		NM_032242		10	32	0	0	0	0.00632	0	10	32		
ACAD11	84129	broad.mit.edu	37	3	132337486	132337486	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:132337486T>C	ENST00000264990.6	-	11	2377	c.1406A>G	c.(1405-1407)cAa>cGa	p.Q469R	ACAD11_ENST00000355458.3_Missense_Mutation_p.Q469R|ACAD11_ENST00000481970.2_Missense_Mutation_p.Q469R|ACAD11_ENST00000545291.1_Intron	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	469					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						ACCTGGTGCTTGGCAGTTAAA	0.338																																						uc003eov.3		NaN																	0				ovary(1)	1						c.(1405-1407)CAA>CGA		putative acyl-CoA dehydrogenase							73.0	73.0	73.0					3																	132337486		2203	4299	6502	SO:0001583	missense	84129					peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups	g.chr3:132337486T>C	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.1406A>G	3.37:g.132337486T>C	ENSP00000264990:p.Gln469Arg					ACAD11_uc011blr.1_Missense_Mutation_p.Q80R|ACAD11_uc003eoy.2_Missense_Mutation_p.Q469R	p.Q469R	NM_032169	NP_115545	Q709F0	ACD11_HUMAN			11	1786	-			469					Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	c.1406A>G	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.419599	0.83559	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000481970	D;D;T	0.99706	-6.47;-6.47;1.96	5.52	5.52	0.82312	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	.	.	.	.	D	0.99648	0.9870	M	0.91300	3.195	0.80722	D	1	P;P	0.50066	0.791;0.931	B;P	0.54889	0.265;0.763	D	0.97610	1.0129	9	0.66056	D	0.02	.	15.5974	0.76595	0.0:0.0:0.0:1.0	.	469;469	D6RDI8;Q709F0	.;ACD11_HUMAN	R	469	ENSP00000347636:Q469R;ENSP00000264990:Q469R;ENSP00000420907:Q469R	ENSP00000264990:Q469R	Q	-	2	0	ACAD11	133820176	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.637000	0.83313	2.222000	0.72286	0.528000	0.53228	CAA		0.338	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2		NM_032169		15	75	0	0	0	0.003163	0	15	75		
RAB6B	51560	broad.mit.edu	37	3	133614257	133614257	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:133614257G>T	ENST00000285208.4	-	1	403	c.54C>A	c.(52-54)ttC>ttA	p.F18L	RAB6B_ENST00000543906.1_Missense_Mutation_p.F18L|RAB6B_ENST00000469959.1_Missense_Mutation_p.F18L|RAB6B_ENST00000486858.1_5'UTR	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	18					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						GCTCCCCCAAGAACACCAACT	0.617																																						uc003epy.2		NaN																	0				pancreas(1)	1						c.(52-54)TTC>TTA		RAB6B, member RAS oncogene family							69.0	68.0	68.0					3																	133614257		2203	4300	6503	SO:0001583	missense	51560				protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding	g.chr3:133614257G>T	AF166492	CCDS3082.1	3q22.1	2008-05-15			ENSG00000154917	ENSG00000154917		"""RAB, member RAS oncogene"""	14902	protein-coding gene	gene with protein product		615852					Standard	NM_016577		Approved		uc003epy.3	Q9NRW1	OTTHUMG00000159749	ENST00000285208.4:c.54C>A	3.37:g.133614257G>T	ENSP00000285208:p.Phe18Leu					RAB6B_uc011blu.1_5'UTR	p.F18L	NM_016577	NP_057661	Q9NRW1	RAB6B_HUMAN			1	435	-			18					B2R5Z9|B7Z337|D3DND3|Q92929	Missense_Mutation	SNP	ENST00000285208.4	37	c.54C>A	CCDS3082.1	.	.	.	.	.	.	.	.	.	.	g	15.89	2.965292	0.53507	.	.	ENSG00000154917	ENST00000285208;ENST00000543906;ENST00000469959	T;T	0.74632	-0.86;-0.86	3.46	3.46	0.39613	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.51839	0.1698	N	0.11789	0.175	0.58432	D	0.999994	B	0.21225	0.053	B	0.27380	0.079	T	0.40979	-0.9534	10	0.10902	T	0.67	0.0059	7.9953	0.30265	0.1174:0.0:0.8826:0.0	.	18	Q9NRW1	RAB6B_HUMAN	L	18	ENSP00000285208:F18L;ENSP00000437797:F18L	ENSP00000285208:F18L	F	-	3	2	RAB6B	135096947	1.000000	0.71417	0.951000	0.38953	0.801000	0.45260	1.997000	0.40786	1.740000	0.51718	0.457000	0.33378	TTC		0.617	RAB6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357152.1				68	60	1	0	7.25294e-45	0.00361	8.46435e-45	68	60		
ZIC4	84107	broad.mit.edu	37	3	147113765	147113765	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:147113765T>G	ENST00000383075.3	-	3	1074	c.562A>C	c.(562-564)Aaa>Caa	p.K188Q	ZIC4_ENST00000425731.3_Missense_Mutation_p.K226Q|ZIC4_ENST00000525172.2_Missense_Mutation_p.K238Q|ZIC4_ENST00000484399.1_Missense_Mutation_p.K188Q|ZIC4_ENST00000473123.1_Missense_Mutation_p.K188Q|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	188						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AGTTTGTATTTGGCTTTGAAG	0.572																																						uc003ewd.1		NaN																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(562-564)AAA>CAA		zinc finger protein of the cerebellum 4							117.0	128.0	125.0					3																	147113765		2203	4300	6503	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147113765T>G	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.562A>C	3.37:g.147113765T>G	ENSP00000372553:p.Lys188Gln					ZIC4_uc003ewc.1_Missense_Mutation_p.K118Q|ZIC4_uc011bno.1_Missense_Mutation_p.K238Q	p.K188Q	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			3	835	-			188			C2H2-type 2; atypical.		A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.562A>C	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.731128	0.89390	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	D;D;D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89;-2.89;-2.89	5.27	5.27	0.74061	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000156	D	0.93278	0.7858	L	0.31294	0.92	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.969;0.998	D	0.94384	0.7607	10	0.87932	D	0	.	15.1888	0.73025	0.0:0.0:0.0:1.0	.	238;188	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	Q	188;226;238;188;188;188	ENSP00000372553:K188Q;ENSP00000397695:K226Q;ENSP00000435509:K238Q;ENSP00000417855:K188Q;ENSP00000420775:K188Q;ENSP00000420627:K188Q	ENSP00000372553:K188Q	K	-	1	0	ZIC4	148596455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	1.992000	0.58205	0.459000	0.35465	AAA		0.572	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1				30	367	0	0	0	0.010818	0	30	367		
PLCH1	23007	broad.mit.edu	37	3	155208658	155208658	+	Splice_Site	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:155208658C>G	ENST00000340059.7	-	18	2271		c.e18-1		PLCH1_ENST00000447496.2_Splice_Site|PLCH1_ENST00000334686.6_Splice_Site|PLCH1_ENST00000494598.1_Splice_Site|PLCH1_ENST00000414191.1_Splice_Site|PLCH1_ENST00000460012.1_Splice_Site	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1						inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGTCAATGATCTATTAAGTAA	0.313																																						uc011bok.1		NaN																	0				skin(3)|ovary(1)	4						c.e18-1		phospholipase C eta 1 isoform a							81.0	75.0	77.0					3																	155208658		2203	4298	6501	SO:0001630	splice_region_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155208658C>G	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2272-1G>C	3.37:g.155208658C>G						PLCH1_uc011boj.1_Splice_Site_p.I758_splice|PLCH1_uc011bol.1_Splice_Site_p.I740_splice	p.I758_splice	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		18	2549	-								Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Splice_Site	SNP	ENST00000340059.7	37	c.2272_splice	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631401	0.87660	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLCH1	156691352	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	7.711000	0.84669	2.880000	0.98712	0.650000	0.86243	.		0.313	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1		NM_014996	Intron	6	48	0	0	0	0.001168	0	6	48		
ECT2	1894	broad.mit.edu	37	3	172472376	172472376	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:172472376C>G	ENST00000392692.3	+	2	232	c.56C>G	c.(55-57)tCt>tGt	p.S19C	ECT2_ENST00000417960.1_Missense_Mutation_p.S19C|ECT2_ENST00000441497.2_Missense_Mutation_p.S19C|ECT2_ENST00000427830.1_Missense_Mutation_p.S19C|ECT2_ENST00000540509.1_Missense_Mutation_p.S19C|ECT2_ENST00000232458.5_Missense_Mutation_p.S19C	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	19					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TTGGCAGACTCTTCCATTTTT	0.323																																						uc003fii.2		NaN																	0				breast(2)|ovary(1)|skin(1)	4						c.(55-57)TCT>TGT		epithelial cell transforming sequence 2 oncogene							56.0	55.0	55.0					3																	172472376		2203	4295	6498	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172472376C>G	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.56C>G	3.37:g.172472376C>G	ENSP00000376457:p.Ser19Cys					ECT2_uc010hwv.1_Missense_Mutation_p.S19C|ECT2_uc003fih.2_Missense_Mutation_p.S19C|ECT2_uc003fij.1_Missense_Mutation_p.S19C|ECT2_uc003fik.1_Missense_Mutation_p.S19C|ECT2_uc003fil.1_Missense_Mutation_p.S19C	p.S19C	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		2	194	+	Ovarian(172;0.00197)|Breast(254;0.158)		19					Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.56C>G	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837614	0.91117	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000428567;ENST00000426894;ENST00000366090;ENST00000415665;ENST00000438041;ENST00000441497;ENST00000540509	T;T;T;T;T;T;T;T;T;T;T	0.73469	-0.69;-0.55;-0.75;-0.69;0.42;0.5;0.45;0.43;0.5;-0.69;-0.55	5.46	5.46	0.80206	.	0.169081	0.53938	D	0.000048	T	0.79718	0.4494	L	0.29908	0.895	0.58432	D	0.999997	D;D;D;D	0.67145	0.972;0.996;0.995;0.965	P;D;P;P	0.64144	0.681;0.922;0.849;0.759	T	0.82080	-0.0634	10	0.87932	D	0	-13.0181	19.297	0.94126	0.0:1.0:0.0:0.0	.	19;19;19;19	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	C	19	ENSP00000232458:S19C;ENSP00000376457:S19C;ENSP00000401910:S19C;ENSP00000415876:S19C;ENSP00000403501:S19C;ENSP00000412331:S19C;ENSP00000403446:S19C;ENSP00000412028:S19C;ENSP00000389108:S19C;ENSP00000412259:S19C;ENSP00000443160:S19C	ENSP00000232458:S19C	S	+	2	0	ECT2	173955070	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.939000	0.63526	2.554000	0.86153	0.484000	0.47621	TCT		0.323	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2		NM_018098		13	17	0	0	0	0.001368	0	13	17		
ECT2	1894	broad.mit.edu	37	3	172472419	172472419	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:172472419C>G	ENST00000392692.3	+	2	275	c.99C>G	c.(97-99)aaC>aaG	p.N33K	ECT2_ENST00000417960.1_Missense_Mutation_p.N33K|ECT2_ENST00000441497.2_Missense_Mutation_p.N33K|ECT2_ENST00000427830.1_Missense_Mutation_p.N33K|ECT2_ENST00000540509.1_Missense_Mutation_p.N33K|ECT2_ENST00000232458.5_Missense_Mutation_p.N33K	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	33					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CCAAGGAAAACTTACTTATTG	0.323																																						uc003fii.2		NaN																	0				breast(2)|ovary(1)|skin(1)	4						c.(97-99)AAC>AAG		epithelial cell transforming sequence 2 oncogene							52.0	52.0	52.0					3																	172472419		2203	4296	6499	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172472419C>G	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.99C>G	3.37:g.172472419C>G	ENSP00000376457:p.Asn33Lys					ECT2_uc010hwv.1_Missense_Mutation_p.N33K|ECT2_uc003fih.2_Missense_Mutation_p.N33K|ECT2_uc003fij.1_Missense_Mutation_p.N33K|ECT2_uc003fik.1_Missense_Mutation_p.N33K|ECT2_uc003fil.1_Missense_Mutation_p.N33K	p.N33K	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		2	237	+	Ovarian(172;0.00197)|Breast(254;0.158)		33					Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.99C>G	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735981	0.30774	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000428567;ENST00000426894;ENST00000366090;ENST00000415665;ENST00000438041;ENST00000441497;ENST00000540509	T;T;T;T;T;T;T;T;T;T;T	0.66460	-0.17;-0.13;-0.21;-0.19;0.85;0.9;0.88;0.87;0.89;-0.17;-0.13	5.46	0.903	0.19296	.	0.097507	0.64402	D	0.000001	T	0.50120	0.1597	L	0.27053	0.805	0.24335	N	0.994983	P;P;P;B	0.46457	0.722;0.878;0.702;0.274	B;B;B;B	0.40825	0.114;0.341;0.255;0.112	T	0.47861	-0.9084	10	0.46703	T	0.11	-12.0921	11.1776	0.48610	0.0:0.6034:0.0:0.3966	.	33;33;33;33	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	K	33	ENSP00000232458:N33K;ENSP00000376457:N33K;ENSP00000401910:N33K;ENSP00000415876:N33K;ENSP00000403501:N33K;ENSP00000412331:N33K;ENSP00000403446:N33K;ENSP00000412028:N33K;ENSP00000389108:N33K;ENSP00000412259:N33K;ENSP00000443160:N33K	ENSP00000232458:N33K	N	+	3	2	ECT2	173955113	0.194000	0.23325	0.466000	0.27168	0.684000	0.39900	0.546000	0.23284	0.229000	0.21039	0.484000	0.47621	AAC		0.323	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2		NM_018098		17	15	0	0	0	0.00499	0	17	15		
ABCC5	10057	broad.mit.edu	37	3	183670874	183670874	+	Splice_Site	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:183670874C>T	ENST00000334444.6	-	18	2907	c.2667G>A	c.(2665-2667)ggG>ggA	p.G889G	ABCC5_ENST00000265586.6_Splice_Site_p.G889G	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	889	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|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)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GTAACCTTACCCCGCTTCCTT	0.463																																						uc003fmg.2		NaN																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(2665-2667)GGG>GGA		ATP-binding cassette, sub-family C, member 5							95.0	93.0	93.0					3																	183670874		1895	4106	6001	SO:0001630	splice_region_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183670874C>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2667+1G>A	3.37:g.183670874C>T						ABCC5_uc011bqt.1_Silent_p.G417G|ABCC5_uc010hxl.2_Silent_p.G889G	p.G889G	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		18	2832	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		889			ABC transmembrane type-1 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	c.2667G>A	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.352855	0.41700	.	.	ENSG00000114770	ENST00000382495	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	T	0.65417	0.2689	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63014	-0.6731	4	.	.	.	-20.7315	13.371	0.60713	0.0:0.9193:0.0:0.0807	.	.	.	.	K	824	.	.	E	-	1	0	ABCC5	185153568	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.355000	0.59424	2.648000	0.89879	0.650000	0.86243	GAA		0.463	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1		NM_005688	Silent	57	109	0	0	0	0.00361	0	57	109		
THPO	7066	broad.mit.edu	37	3	184090596	184090596	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:184090596C>A	ENST00000204615.7	-	6	981	c.767G>T	c.(766-768)gGa>gTa	p.G256V	THPO_ENST00000477594.1_5'Flank|THPO_ENST00000445696.2_Missense_Mutation_p.G252V|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000421442.2_Missense_Mutation_p.W217C	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	256					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCACGAGTTCCATTCAAGAG	0.562																																						uc003fol.1		NaN																	0				ovary(1)	1						c.(766-768)GGA>GTA		thrombopoietin precursor							141.0	142.0	142.0					3																	184090596		2203	4300	6503	SO:0001583	missense	7066				cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity	g.chr3:184090596C>A		CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"""Endogenous ligands"""	11795	protein-coding gene	gene with protein product	"""prepro-thrombopoietin"", ""megakaryocyte stimulating factor"", ""myeloproliferative leukemia virus oncogene ligand"", ""megakaryocyte growth and development factor"", ""MPL ligand"", ""megakaryocyte colony-stimulating factor"", ""c-mpl ligand"", ""thrombopoietin nirs variant 1"""	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.767G>T	3.37:g.184090596C>A	ENSP00000204615:p.Gly256Val					THPO_uc003fom.1_Missense_Mutation_p.G252V|THPO_uc003fon.2_Missense_Mutation_p.W217C|THPO_uc011bro.1_Intron|THPO_uc003fop.2_Missense_Mutation_p.W213C|THPO_uc011brp.1_Intron|THPO_uc011brq.1_Missense_Mutation_p.W177C	p.G256V	NM_000460	NP_000451	P40225	TPO_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		6	982	-	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		256					A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Missense_Mutation	SNP	ENST00000204615.7	37	c.767G>T	CCDS3265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.754|9.754	1.168292|1.168292	0.21621|0.21621	.|.	.|.	ENSG00000090534|ENSG00000090534	ENST00000204615;ENST00000445696;ENST00000353488|ENST00000421442	T;T|T	0.35973|0.39787	1.28;1.29|1.06	4.59|4.59	3.72|3.72	0.42706|0.42706	Four-helical cytokine, core (1);|.	0.278938|.	0.25890|.	N|.	0.027625|.	T|T	0.44540|0.44540	0.1298|0.1298	L|L	0.32530|0.32530	0.975|0.975	0.37937|0.37937	D|D	0.932204|0.932204	D;D|D	0.89917|0.65815	1.0;1.0|0.995	D;D|P	0.74674|0.55824	0.984;0.965|0.785	T|T	0.49579|0.49579	-0.8925|-0.8925	10|9	0.66056|0.56958	D|D	0.02|0.05	-18.8753|-18.8753	10.6989|10.6989	0.45915|0.45915	0.0:0.8066:0.1934:0.0|0.0:0.8066:0.1934:0.0	.|.	252;256|217	P40225-2;P40225|F8W6L1	.;TPO_HUMAN|.	V|C	256;252;217|217	ENSP00000204615:G256V;ENSP00000410763:G252V|ENSP00000411704:W217C	ENSP00000204615:G256V|ENSP00000411704:W217C	G|W	-|-	2|3	0|0	THPO|THPO	185573290|185573290	0.997000|0.997000	0.39634|0.39634	0.873000|0.873000	0.34254|0.34254	0.022000|0.022000	0.10575|0.10575	1.380000|1.380000	0.34351|0.34351	1.155000|1.155000	0.42497|0.42497	-0.352000|-0.352000	0.07741|0.07741	GGA|TGG		0.562	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345554.1		NM_000460		91	286	1	0	2.60632e-51	0.00361	3.04816e-51	91	286		
DGKG	1608	broad.mit.edu	37	3	186015941	186015941	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:186015941G>A	ENST00000265022.3	-	4	761	c.222C>T	c.(220-222)caC>caT	p.H74H	DGKG_ENST00000544847.1_Silent_p.H74H|DGKG_ENST00000344484.4_Silent_p.H74H|DGKG_ENST00000382164.4_Silent_p.H74H	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	74					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CCAGGAAGAGGTGAGTGCTCA	0.582																																						uc003fqa.2		NaN																	0				breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(220-222)CAC>CAT		diacylglycerol kinase gamma isoform 1	Phosphatidylserine(DB00144)						112.0	108.0	110.0					3																	186015941		2203	4300	6503	SO:0001819	synonymous_variant	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:186015941G>A	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.222C>T	3.37:g.186015941G>A						DGKG_uc003fqb.2_Silent_p.H74H|DGKG_uc003fqc.2_Silent_p.H74H|DGKG_uc011brx.1_Silent_p.H74H	p.H74H	NM_001346	NP_001337	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	4	759	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		74					B2RAH4|Q2M1H4|Q5FWG1	Silent	SNP	ENST00000265022.3	37	c.222C>T	CCDS3274.1																																																																																				0.582	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3				33	211	0	0	0	0.009535	0	33	211		
FGFR3	2261	broad.mit.edu	37	4	1806099	1806099	+	Missense_Mutation	SNP	A	A	G	rs121913485		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:1806099A>G	ENST00000260795.2	+	8	1220	c.1118A>G	c.(1117-1119)tAt>tGt	p.Y373C	FGFR3_ENST00000440486.2_Missense_Mutation_p.Y373C|FGFR3_ENST00000481110.2_Missense_Mutation_p.Y373C|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000340107.4_Missense_Mutation_p.Y375C|FGFR3_ENST00000352904.1_Intron			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	373			Y -> C (in KERSEB and TD1; disulfide- linked dimer with constitutive kinase activation). {ECO:0000269|PubMed:10360402, ECO:0000269|PubMed:15772091, ECO:0000269|PubMed:8845844, ECO:0000269|PubMed:9207791}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.Y373C(395)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	GGCAGTGTGTATGCAGGCATC	0.682	Y373C(KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													uc003gdr.3	Y373C(KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	1		Dom	yes		4	4p16.3	2261	Mis|T	fibroblast growth factor receptor 3	yes	Hypochondroplasia|Thanatophoric dysplasia	"""L, E"""	IGH@|ETV6		bladder|MM|T-cell lymphoma		395	Substitution - Missense(395)	p.Y373C(437)	urinary_tract(371)|skin(16)|haematopoietic_and_lymphoid_tissue(8)	urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600	GRCh37	CM960657	FGFR3	M	rs121913485	c.(1117-1119)TAT>TGT		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)						141.0	134.0	137.0					4																	1806099		2203	4300	6503	SO:0001583	missense	2261	Muenke_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1806099A>G	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1118A>G	4.37:g.1806099A>G	ENSP00000260795:p.Tyr373Cys					FGFR3_uc003gdu.2_Missense_Mutation_p.Y375C|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Missense_Mutation_p.Y373C	p.Y373C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		9	1374	+		Breast(71;0.212)|all_epithelial(65;0.241)	373		Y -> C (in KERSEB and TD1).	Extracellular (Potential).		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.1118A>G	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	a	12.61	1.990190	0.35131	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000260795	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	4.68	1.93	0.25924	.	0.343855	0.31061	N	0.008340	D	0.93148	0.7818	M	0.82517	2.595	0.80722	A	1	D;D;D	0.76494	0.992;0.994;0.999	D;P;D	0.72625	0.94;0.896;0.978	D	0.94049	0.7316	9	0.72032	D	0.01	.	8.9873	0.36001	0.7079:0.0:0.0:0.2921	.	375;373;373	P22607-2;P22607;F8W9L4	.;FGFR3_HUMAN;.	C	373;375;373;373	ENSP00000420533:Y373C;ENSP00000339824:Y375C;ENSP00000414914:Y373C;ENSP00000260795:Y373C	ENSP00000260795:Y373C	Y	+	2	0	FGFR3	1775897	0.999000	0.42202	0.495000	0.27527	0.084000	0.17831	4.274000	0.58921	0.715000	0.32103	0.379000	0.24179	TAT		0.682	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2		NM_000142		159	67	0	0	0	0.00361	0	159	67		
C1QTNF7	114905	broad.mit.edu	37	4	15437374	15437374	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:15437374G>C	ENST00000444304.2	+	2	333	c.7G>C	c.(7-9)Gtc>Ctc	p.V3L	C1QTNF7_ENST00000429690.1_Missense_Mutation_p.V3L|C1QTNF7_ENST00000295297.4_Missense_Mutation_p.V10L			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	3					protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						AAAGATGTTTGTCTTGCTCTA	0.448																																						uc011bxb.1		NaN																	0					0						c.(7-9)GTC>CTC		C1q and tumor necrosis factor related protein 7							108.0	100.0	103.0					4																	15437374		2203	4300	6503	SO:0001583	missense	114905					collagen		g.chr4:15437374G>C	AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.7G>C	4.37:g.15437374G>C	ENSP00000388914:p.Val3Leu					C1QTNF7_uc003gno.2_Missense_Mutation_p.V10L|C1QTNF7_uc003gnp.2_Missense_Mutation_p.V3L	p.V3L	NM_001135171	NP_001128643	Q9BXJ2	C1QT7_HUMAN			2	234	+			3					B2RBT3|J3KPW3	Missense_Mutation	SNP	ENST00000444304.2	37	c.7G>C	CCDS3414.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991816	0.35131	.	.	ENSG00000163145	ENST00000397700;ENST00000295297;ENST00000382383;ENST00000429690;ENST00000444304	D;D;D;D;D	0.90955	-2.76;-2.41;-2.64;-2.4;-2.4	5.54	4.67	0.58626	.	0.299113	0.33457	N	0.004888	D	0.83257	0.5215	L	0.29908	0.895	0.28824	N	0.897516	B	0.02656	0.0	B	0.04013	0.001	T	0.72117	-0.4387	10	0.25106	T	0.35	.	10.2012	0.43084	0.1567:0.0:0.8433:0.0	.	3	Q9BXJ2	C1QT7_HUMAN	L	10;10;3;3;3	ENSP00000380812:V10L;ENSP00000295297:V10L;ENSP00000371820:V3L;ENSP00000410722:V3L;ENSP00000388914:V3L	ENSP00000295297:V10L	V	+	1	0	C1QTNF7	15046472	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.232000	0.51302	1.406000	0.46857	0.655000	0.94253	GTC		0.448	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250891.2				4	68	0	0	0	0.009096	0	4	68		
CD38	952	broad.mit.edu	37	4	15780060	15780060	+	Missense_Mutation	SNP	C	C	A	rs78988986		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:15780060C>A	ENST00000226279.3	+	1	160	c.23C>A	c.(22-24)cCg>cAg	p.P8Q		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	8					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GAGTTCAGCCCGGTGTCCGGG	0.647																																						uc011bxc.1		NaN																	0				ovary(2)	2						c.(22-24)CCG>CAG		CD38 antigen							66.0	73.0	71.0					4																	15780060		2203	4300	6503	SO:0001583	missense	952				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity	g.chr4:15780060C>A	D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"""CD molecules"""	1667	protein-coding gene	gene with protein product	"""ADP-ribosyl cyclase 1"", ""NAD(+) nucleosidase"""	107270	"""CD38 antigen (p45)"""			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.23C>A	4.37:g.15780060C>A	ENSP00000226279:p.Pro8Gln					CD38_uc003goj.1_Missense_Mutation_p.P8Q|CD38_uc003gol.1_Missense_Mutation_p.P8Q	p.P8Q	NM_001775	NP_001766	P28907	CD38_HUMAN			1	130	+			8			Cytoplasmic (Potential).		O00121|O00122|Q96HY4	Missense_Mutation	SNP	ENST00000226279.3	37	c.23C>A	CCDS3417.1	.	.	.	.	.	.	.	.	.	.	C	2.398	-0.338234	0.05278	.	.	ENSG00000004468	ENST00000226279;ENST00000540195	T	0.12774	2.65	2.47	0.165	0.14995	.	1.196020	0.06487	N	0.733911	T	0.05640	0.0148	N	0.11560	0.145	0.09310	N	1	B;B	0.27192	0.171;0.171	B;B	0.15052	0.012;0.012	T	0.40021	-0.9585	10	0.15952	T	0.53	.	2.9197	0.05765	0.3872:0.4498:0.0:0.163	.	8;8	P28907;B2R880	CD38_HUMAN;.	Q	8	ENSP00000226279:P8Q	ENSP00000226279:P8Q	P	+	2	0	CD38	15389158	0.000000	0.05858	0.001000	0.08648	0.264000	0.26372	0.331000	0.19733	0.015000	0.14971	0.313000	0.20887	CCG		0.647	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2		NM_001775		43	96	1	0	5.20006e-24	0.011902	5.89196e-24	43	96		
SLC34A2	10568	broad.mit.edu	37	4	25677816	25677816	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:25677816G>A	ENST00000382051.3	+	13	1568	c.1518G>A	c.(1516-1518)ccG>ccA	p.P506P	SLC34A2_ENST00000504570.1_Silent_p.P505P|SLC34A2_ENST00000503434.1_Silent_p.P505P	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	506					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				ACCCGATCCCGTTCACTCGCC	0.567			T	ROS1	NSCLC																																	uc003grr.2		NaN		Dom	yes		4	4p15.2	10568		"""solute carrier family 34 (sodium phosphate), member 2"""			E					0				skin(3)|ovary(1)|kidney(1)	5						c.(1516-1518)CCG>CCA		solute carrier family 34 (sodium phosphate),							131.0	110.0	117.0					4																	25677816		2203	4300	6503	SO:0001819	synonymous_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25677816G>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1518G>A	4.37:g.25677816G>A						SLC34A2_uc003grs.2_Silent_p.P505P|SLC34A2_uc010iev.2_Silent_p.P505P	p.P506P	NM_006424	NP_006415	O95436	NPT2B_HUMAN			13	1599	+		Breast(46;0.0503)	506			Helical; Name=M6; (Potential).		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	c.1518G>A	CCDS3435.1																																																																																				0.567	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1		NM_006424		34	121	0	0	0	0.012213	0	34	121		
DCAF4L1	285429	broad.mit.edu	37	4	41984468	41984468	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:41984468C>G	ENST00000333141.5	+	1	756	c.659C>G	c.(658-660)tCa>tGa	p.S220*		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	220										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						CACCAGCAGTCATTTGATACC	0.552																																						uc003gwk.2		NaN																	0				skin(1)	1						c.(658-660)TCA>TGA		WD repeat domain 21B							185.0	172.0	176.0					4																	41984468		2203	4300	6503	SO:0001587	stop_gained	285429							g.chr4:41984468C>G	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.659C>G	4.37:g.41984468C>G	ENSP00000327796:p.Ser220*						p.S220*	NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN			1	756	+			220					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Nonsense_Mutation	SNP	ENST00000333141.5	37	c.659C>G	CCDS33978.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593225	0.66219	.	.	ENSG00000182308	ENST00000333141	.	.	.	0.688	0.688	0.18027	.	0.317226	0.37577	N	0.002033	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	.	.	.	.	.	.	.	X	220	.	ENSP00000327796:S220X	S	+	2	0	DCAF4L1	41679225	1.000000	0.71417	0.410000	0.26471	0.164000	0.22412	3.136000	0.50554	0.635000	0.30488	0.313000	0.20887	TCA		0.552	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1		NM_001029955		70	262	0	0	0	0.00361	0	70	262		
GABRB1	2560	broad.mit.edu	37	4	47033934	47033934	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:47033934C>T	ENST00000295454.3	+	2	376	c.84C>T	c.(82-84)acC>acT	p.T28T	GABRB1_ENST00000509366.1_3'UTR|GABRB1_ENST00000538619.1_5'UTR	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	28					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCCTTAGCACCAATGAACCCA	0.458																																						uc003gxh.2		NaN																	0				ovary(2)	2						c.(82-84)ACC>ACT		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						227.0	221.0	223.0					4																	47033934		2203	4300	6503	SO:0001819	synonymous_variant	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47033934C>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.84C>T	4.37:g.47033934C>T						GABRB1_uc011bze.1_5'UTR|GABRB1_uc011bzd.1_Silent_p.T28T|GABRB1_uc010igg.2_RNA	p.T28T	NM_000812	NP_000803	P18505	GBRB1_HUMAN			2	458	+			28			Extracellular (Probable).		B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	ENST00000295454.3	37	c.84C>T	CCDS3474.1																																																																																				0.458	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1				21	258	0	0	0	0.00278	0	21	258		
SCD5	79966	broad.mit.edu	37	4	83557961	83557961	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:83557961G>A	ENST00000319540.4	-	4	904	c.585C>T	c.(583-585)tcC>tcT	p.S195S		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	195					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TGAGCACCACGGAGATCTTAT	0.517																																						uc003hna.2		NaN																	0				ovary(1)	1						c.(583-585)TCC>TCT		stearoyl-CoA desaturase 5 isoform a							65.0	55.0	59.0					4																	83557961		2203	4300	6503	SO:0001819	synonymous_variant	79966				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr4:83557961G>A	AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.585C>T	4.37:g.83557961G>A							p.S195S	NM_001037582	NP_001032671	Q86SK9	SCD5_HUMAN			4	905	-		Colorectal(4;0.0323)|Hepatocellular(203;0.115)	195			Helical; (Potential).		B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Silent	SNP	ENST00000319540.4	37	c.585C>T	CCDS34024.1																																																																																				0.517	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1		NM_024906		21	19	0	0	0	0.010504	0	21	19		
WDFY3	23001	broad.mit.edu	37	4	85672647	85672647	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:85672647G>C	ENST00000295888.4	-	36	6369	c.5962C>G	c.(5962-5964)Ctt>Gtt	p.L1988V	WDFY3_ENST00000322366.6_Missense_Mutation_p.L1988V	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1988					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCCAACAAAAGATCAATTAGT	0.358																																						uc003hpd.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(5962-5964)CTT>GTT		WD repeat and FYVE domain containing 3 isoform							73.0	73.0	73.0					4																	85672647		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85672647G>C	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.5962C>G	4.37:g.85672647G>C	ENSP00000295888:p.Leu1988Val						p.L1988V	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	36	6370	-		Hepatocellular(203;0.114)	1988					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.5962C>G	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.770375	0.49680	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.64991	-0.13;-0.13	5.9	5.05	0.67936	.	0.062043	0.64402	D	0.000003	T	0.51601	0.1684	L	0.31664	0.95	0.80722	D	1	B	0.21821	0.061	B	0.24155	0.051	T	0.45011	-0.9290	10	0.32370	T	0.25	.	14.9256	0.70875	0.0685:0.0:0.9315:0.0	.	1988	Q8IZQ1	WDFY3_HUMAN	V	1988	ENSP00000318466:L1988V;ENSP00000295888:L1988V	ENSP00000295888:L1988V	L	-	1	0	WDFY3	85891671	1.000000	0.71417	0.976000	0.42696	0.990000	0.78478	4.487000	0.60293	1.489000	0.48450	0.591000	0.81541	CTT		0.358	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2		NM_014991		14	72	0	0	0	0.00245	0	14	72		
WDFY3	23001	broad.mit.edu	37	4	85672677	85672677	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:85672677G>C	ENST00000295888.4	-	36	6339	c.5932C>G	c.(5932-5934)Cct>Gct	p.P1978A	WDFY3_ENST00000322366.6_Missense_Mutation_p.P1978A	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1978					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGCTGGCAGGAGTGAGACAG	0.388																																						uc003hpd.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(5932-5934)CCT>GCT		WD repeat and FYVE domain containing 3 isoform							92.0	91.0	91.0					4																	85672677		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85672677G>C	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.5932C>G	4.37:g.85672677G>C	ENSP00000295888:p.Pro1978Ala						p.P1978A	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	36	6340	-		Hepatocellular(203;0.114)	1978					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.5932C>G	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950173	0.34377	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.63744	-0.06;-0.05	5.78	4.93	0.64822	.	0.049604	0.85682	D	0.000000	T	0.52468	0.1736	L	0.50333	1.59	0.80722	D	1	B	0.28636	0.218	B	0.25506	0.061	T	0.49051	-0.8979	10	0.07644	T	0.81	.	14.6911	0.69087	0.0697:0.0:0.9303:0.0	.	1978	Q8IZQ1	WDFY3_HUMAN	A	1978	ENSP00000318466:P1978A;ENSP00000295888:P1978A	ENSP00000295888:P1978A	P	-	1	0	WDFY3	85891701	1.000000	0.71417	0.855000	0.33649	0.984000	0.73092	9.471000	0.97696	1.424000	0.47217	0.585000	0.79938	CCT		0.388	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2		NM_014991		14	90	0	0	0	0.003163	0	14	90		
KLHL8	57563	broad.mit.edu	37	4	88097923	88097923	+	Silent	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:88097923T>G	ENST00000273963.5	-	6	1535	c.1194A>C	c.(1192-1194)tcA>tcC	p.S398S	KLHL8_ENST00000425278.2_Silent_p.S215S|KLHL8_ENST00000512111.1_Silent_p.S398S|KLHL8_ENST00000545252.1_Silent_p.S47S|KLHL8_ENST00000498875.2_Silent_p.S322S	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	398					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TTGTGTTCATTGATGCCTTCA	0.338																																						uc011cdb.1		NaN																	0					0						c.(1192-1194)TCA>TCC		kelch-like 8							212.0	186.0	195.0					4																	88097923		2203	4300	6503	SO:0001819	synonymous_variant	57563							g.chr4:88097923T>G	AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"""Kelch-like"", ""BTB/POZ domain containing"""	18644	protein-coding gene	gene with protein product		611967	"""kelch-like 8 (Drosophila)"""				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.1194A>C	4.37:g.88097923T>G						KLHL8_uc003hql.1_Silent_p.S398S|KLHL8_uc003hqm.1_Silent_p.S322S|KLHL8_uc003hqn.1_Silent_p.S215S|KLHL8_uc010ikj.1_Silent_p.S47S	p.S398S	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	6	1579	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	398			Kelch 2.		Q53XA3|Q6N018	Silent	SNP	ENST00000273963.5	37	c.1194A>C	CCDS3617.1																																																																																				0.338	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1				22	65	0	0	0	0.012319	0	22	65		
ETNPPL	64850	broad.mit.edu	37	4	109663675	109663675	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:109663675T>G	ENST00000296486.3	-	13	1619	c.1465A>C	c.(1465-1467)Aca>Cca	p.T489P	ETNPPL_ENST00000512646.1_Missense_Mutation_p.T431P|ETNPPL_ENST00000411864.2_Missense_Mutation_p.T483P|ETNPPL_ENST00000510706.1_Missense_Mutation_p.T449P	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	489						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										AGTGAATGTGTATCCGTGCAC	0.438																																						uc003hzc.2		NaN																	0				ovary(1)	1						c.(1465-1467)ACA>CCA		alanine-glyoxylate aminotransferase 2-like 1							231.0	192.0	205.0					4																	109663675		2203	4300	6503	SO:0001583	missense	64850				cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr4:109663675T>G	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.1465A>C	4.37:g.109663675T>G	ENSP00000296486:p.Thr489Pro					AGXT2L1_uc010imc.2_Missense_Mutation_p.T483P|AGXT2L1_uc011cfm.1_Missense_Mutation_p.T449P|AGXT2L1_uc011cfn.1_Missense_Mutation_p.T416P|AGXT2L1_uc011cfo.1_Missense_Mutation_p.T431P	p.T489P	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000281)	13	1646	-			489					B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	c.1465A>C	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.809761	0.31961	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	D;T;D;D	0.85629	-1.64;-1.2;-2.01;-1.59	5.66	3.09	0.35607	.	0.570170	0.18687	N	0.133994	T	0.68742	0.3034	N	0.08118	0	0.09310	N	1	B;B;B	0.22909	0.046;0.077;0.046	B;B;B	0.23018	0.019;0.043;0.019	T	0.52997	-0.8500	9	.	.	.	-11.9474	10.7246	0.46061	0.0:0.0:0.3006:0.6994	.	431;483;489	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	P	489;483;431;449	ENSP00000296486:T489P;ENSP00000392269:T483P;ENSP00000427065:T431P;ENSP00000423240:T449P	.	T	-	1	0	AGXT2L1	109883124	0.055000	0.20627	0.000000	0.03702	0.048000	0.14542	1.524000	0.35942	0.450000	0.26774	0.533000	0.62120	ACA		0.438	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1		NM_031279		16	127	0	0	0	0.00499	0	16	127		
SYNPO2	171024	broad.mit.edu	37	4	119951548	119951548	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:119951548G>C	ENST00000429713.2	+	4	1800	c.1618G>C	c.(1618-1620)Gag>Cag	p.E540Q	SYNPO2_ENST00000307142.4_Missense_Mutation_p.E540Q|SYNPO2_ENST00000434046.2_Missense_Mutation_p.E540Q|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	540						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCAAAGAAAGGAGGAAGAGTC	0.517																																						uc003icm.3		NaN																	0				ovary(2)	2						c.(1618-1620)GAG>CAG		synaptopodin 2 isoform b							68.0	64.0	65.0					4																	119951548		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119951548G>C	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.1618G>C	4.37:g.119951548G>C	ENSP00000395143:p.Glu540Gln					SYNPO2_uc010ina.2_Missense_Mutation_p.E540Q|SYNPO2_uc010inb.2_Missense_Mutation_p.E540Q|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.E468Q	p.E540Q	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN			4	1814	+			540					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	c.1618G>C	CCDS47129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.841|0.841	-0.741916|-0.741916	0.03088|0.03088	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046|ENST00000504178	T;T;T|.	0.41758|.	0.99;0.99;0.99|.	5.53|5.53	4.68|4.68	0.58851|0.58851	.|.	0.175750|.	0.39407|.	N|.	0.001377|.	T|T	0.57562|0.57562	0.2062|0.2062	M|M	0.66939|0.66939	2.045|2.045	0.19945|0.19945	N|N	0.999947|0.999947	P;B;P;P|.	0.44429|.	0.787;0.194;0.835;0.835|.	B;B;B;B|.	0.35073|.	0.131;0.066;0.195;0.195|.	T|T	0.51196|0.51196	-0.8736|-0.8736	9|5	.|.	.|.	.|.	-14.5065|-14.5065	14.1245|14.1245	0.65210|0.65210	0.0:0.2853:0.7147:0.0|0.0:0.2853:0.7147:0.0	.|.	540;540;540;540|.	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6|.	.;.;.;SYNP2_HUMAN|.	Q|A	540|491	ENSP00000306015:E540Q;ENSP00000395143:E540Q;ENSP00000390965:E540Q|.	.|.	E|G	+|+	1|2	0|0	SYNPO2|SYNPO2	120170996|120170996	0.998000|0.998000	0.40836|0.40836	0.006000|0.006000	0.13384|0.13384	0.001000|0.001000	0.01503|0.01503	2.574000|2.574000	0.46016|0.46016	1.311000|1.311000	0.45024|0.45024	-0.165000|-0.165000	0.13383|0.13383	GAG|GGA		0.517	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1				53	54	0	0	0	0.00361	0	53	54		
SPATA5	166378	broad.mit.edu	37	4	123855676	123855676	+	Silent	SNP	A	A	G	rs141742510		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:123855676A>G	ENST00000274008.4	+	5	999	c.930A>G	c.(928-930)ctA>ctG	p.L310L	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	310					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AGAGACTGCTAAAGTTCAGCA	0.348													A|||	1	0.000199681	0.0008	0.0	5008	,	,		20556	0.0		0.0	False		,,,				2504	0.0					uc003iez.3		NaN																	0					0						c.(928-930)CTA>CTG		spermatogenesis associated 5							71.0	71.0	71.0					4																	123855676		2203	4300	6503	SO:0001819	synonymous_variant	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123855676A>G	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.930A>G	4.37:g.123855676A>G						SPATA5_uc003iey.2_Silent_p.L309L	p.L310L	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN			5	1003	+			310					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Silent	SNP	ENST00000274008.4	37	c.930A>G	CCDS3730.1																																																																																				0.348	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2		NM_145207		14	64	0	0	0	0.00245	0	14	64		
UCP1	7350	broad.mit.edu	37	4	141489011	141489011	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:141489011G>A	ENST00000262999.3	-	2	322	c.247C>T	c.(247-249)Cag>Tag	p.Q83*		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	83					brown fat cell differentiation (GO:0050873)|cellular metabolic process (GO:0044237)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					ATTTGCCGCTGAAGCCCCGCA	0.562																																						uc011chj.1		NaN																	0				ovary(1)	1						c.(247-249)CAG>TAG		uncoupling protein 1							61.0	67.0	65.0					4																	141489011		2203	4300	6503	SO:0001587	stop_gained	7350				brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding	g.chr4:141489011G>A	X51955	CCDS3753.1	4q28-q31	2013-05-22			ENSG00000109424	ENSG00000109424		"""Solute carriers"""	12517	protein-coding gene	gene with protein product		113730		UCP		2380264	Standard	NM_021833		Approved	SLC25A7	uc011chj.2	P25874	OTTHUMG00000133415	ENST00000262999.3:c.247C>T	4.37:g.141489011G>A	ENSP00000262999:p.Gln83*					UCP1_uc011chk.1_Nonsense_Mutation_p.Q83*	p.Q83*	NM_021833	NP_068605	P25874	UCP1_HUMAN			2	323	-	all_hematologic(180;0.162)		83			Solcar 1.|Helical; Name=2; (Potential).		Q13218|Q4KMZ3|Q68G66	Nonsense_Mutation	SNP	ENST00000262999.3	37	c.247C>T	CCDS3753.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500218	0.85176	.	.	ENSG00000109424	ENST00000262999	.	.	.	5.51	5.51	0.81932	.	0.056590	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	16.9102	0.86139	0.0:0.0:1.0:0.0	.	.	.	.	X	83	.	ENSP00000262999:Q83X	Q	-	1	0	UCP1	141708461	1.000000	0.71417	0.943000	0.38184	0.033000	0.12548	9.369000	0.97156	2.597000	0.87782	0.655000	0.94253	CAG		0.562	UCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257273.1				28	136	0	0	0	0.00632	0	28	136		
TBC1D9	23158	broad.mit.edu	37	4	141600892	141600892	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:141600892C>G	ENST00000442267.2	-	4	540	c.466G>C	c.(466-468)Gag>Cag	p.E156Q		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	156	GRAM 1.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTCTCTTCCTCTGGCATCCCA	0.423																																						uc010ioj.2		NaN																	0				ovary(1)	1						c.(466-468)GAG>CAG		TBC1 domain family, member 9 (with GRAM domain)							81.0	80.0	80.0					4																	141600892		1855	4081	5936	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141600892C>G	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.466G>C	4.37:g.141600892C>G	ENSP00000411197:p.Glu156Gln						p.E156Q	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			4	738	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	156			GRAM 1.		A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.466G>C	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518407	0.85495	.	.	ENSG00000109436	ENST00000442267	D	0.87412	-2.25	5.41	5.41	0.78517	GRAM (2);	0.051182	0.85682	D	0.000000	D	0.90400	0.6995	M	0.62154	1.92	0.80722	D	1	B	0.32893	0.389	P	0.45712	0.491	D	0.89636	0.3859	10	0.54805	T	0.06	.	19.2074	0.93736	0.0:1.0:0.0:0.0	.	156	Q6ZT07	TBCD9_HUMAN	Q	156	ENSP00000411197:E156Q	ENSP00000411197:E156Q	E	-	1	0	TBC1D9	141820342	1.000000	0.71417	0.908000	0.35775	0.905000	0.53344	7.713000	0.84693	2.548000	0.85928	0.655000	0.94253	GAG		0.423	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1		NM_015130		18	25	0	0	0	0.007413	0	18	25		
EDNRA	1909	broad.mit.edu	37	4	148406949	148406949	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:148406949C>A	ENST00000324300.5	+	2	631	c.116C>A	c.(115-117)aCt>aAt	p.T39N	EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000358556.4_Missense_Mutation_p.T39N|EDNRA_ENST00000506066.1_Missense_Mutation_p.T39N|EDNRA_ENST00000339690.5_Missense_Mutation_p.T39N	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	39					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GATTTCACCACTTTTCGTGGC	0.473																																						uc003iky.2		NaN																	0				ovary(1)|breast(1)	2						c.(115-117)ACT>AAT		endothelin receptor type A isoform a precursor	Bosentan(DB00559)						162.0	137.0	145.0					4																	148406949		2203	4300	6503	SO:0001583	missense	1909				activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity	g.chr4:148406949C>A	D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"""GPCR / Class A : Endothelin receptors"""	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.116C>A	4.37:g.148406949C>A	ENSP00000315011:p.Thr39Asn					EDNRA_uc011cid.1_Intron|EDNRA_uc010ipe.1_Missense_Mutation_p.T39N|EDNRA_uc010ipf.1_RNA|EDNRA_uc010ipg.1_Missense_Mutation_p.T39N	p.T39N	NM_001957	NP_001948	P25101	EDNRA_HUMAN		GBM - Glioblastoma multiforme(119;0.154)	2	808	+	all_hematologic(180;0.151)		39			Extracellular (Potential).		B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Missense_Mutation	SNP	ENST00000324300.5	37	c.116C>A	CCDS3769.1	.	.	.	.	.	.	.	.	.	.	C	9.885	1.202765	0.22121	.	.	ENSG00000151617	ENST00000358556;ENST00000339690;ENST00000394047;ENST00000324300;ENST00000506066	T;D;T;T	0.84223	0.19;-1.82;-0.9;0.19	5.74	5.74	0.90152	.	0.199444	0.43110	D	0.000620	T	0.79890	0.4524	L	0.34521	1.04	0.30282	N	0.791209	B;P;B	0.45212	0.232;0.853;0.0	B;P;B	0.44394	0.126;0.448;0.0	T	0.77422	-0.2594	10	0.29301	T	0.29	-8.2703	12.259	0.54638	0.0:0.9233:0.0:0.0767	.	39;39;39	P25101-4;P25101-2;P25101	.;.;EDNRA_HUMAN	N	39	ENSP00000351359:T39N;ENSP00000341556:T39N;ENSP00000315011:T39N;ENSP00000425281:T39N	ENSP00000315011:T39N	T	+	2	0	EDNRA	148626399	0.410000	0.25376	0.952000	0.39060	0.251000	0.25915	1.729000	0.38115	2.719000	0.93026	0.655000	0.94253	ACT		0.473	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364635.1				41	65	1	0	1.04594e-18	0.00623	1.17533e-18	41	65		
RAPGEF2	9693	broad.mit.edu	37	4	160271403	160271403	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:160271403C>G	ENST00000264431.4	+	20	3763	c.3344C>G	c.(3343-3345)tCt>tGt	p.S1115C		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1115	Ser-rich.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TCGCAGCTTTCTTCTCCTCCT	0.333																																						uc003iqg.3		NaN																	0				lung(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(3343-3345)TCT>TGT		Rap guanine nucleotide exchange factor 2							74.0	72.0	73.0					4																	160271403		1827	4082	5909	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160271403C>G	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.3344C>G	4.37:g.160271403C>G	ENSP00000264431:p.Ser1115Cys						p.S1115C	NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	20	3654	+	all_hematologic(180;0.24)		1115			Ser-rich.		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.3344C>G	CCDS43277.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	25.6|25.6|25.6	4.653392|4.653392|4.653392	0.88056|0.88056|0.88056	.|.|.	.|.|.	ENSG00000109756|ENSG00000109756|ENSG00000109756	ENST00000505026|ENST00000510253|ENST00000264431	.|.|T	.|.|0.46819	.|.|0.86	5.45|5.45|5.45	5.45|5.45|5.45	0.79879|0.79879|0.79879	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.66703|0.66703|0.66703	0.2816|0.2816|0.2816	M|M|M	0.64404|0.64404|0.64404	1.975|1.975|1.975	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D	.|.|0.67145	.|.|0.996	.|.|D	.|.|0.64687	.|.|0.928	T|T|T	0.68123|0.68123|0.68123	-0.5492|-0.5492|-0.5492	5|5|10	.|.|0.72032	.|.|D	.|.|0.01	.|.|.	19.6556|19.6556|19.6556	0.95837|0.95837|0.95837	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|1115	.|.|Q9Y4G8	.|.|RPGF2_HUMAN	L|V|C	8|147|1115	.|.|ENSP00000264431:S1115C	.|.|ENSP00000264431:S1115C	F|L|S	+|+|+	3|1|2	2|0|0	RAPGEF2|RAPGEF2|RAPGEF2	160490853|160490853|160490853	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.946000|0.946000|0.946000	0.38457|0.38457|0.38457	0.968000|0.968000|0.968000	0.65278|0.65278|0.65278	7.041000|7.041000|7.041000	0.76558|0.76558|0.76558	2.725000|2.725000|2.725000	0.93324|0.93324|0.93324	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	TTC|CTT|TCT		0.333	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2		NM_014247		10	29	0	0	0	0.010729	0	10	29		
SPATA4	132851	broad.mit.edu	37	4	177116553	177116553	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:177116553G>T	ENST00000280191.2	-	1	269	c.161C>A	c.(160-162)tCc>tAc	p.S54Y	SPATA4_ENST00000515234.1_5'Flank	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	54						cytoplasm (GO:0005737)				NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		ACGCAGAACGGAACGAGACAA	0.607																																						uc003iuo.1		NaN																	0					0						c.(160-162)TCC>TAC		spermatogenesis associated 4							117.0	115.0	116.0					4																	177116553		2203	4300	6503	SO:0001583	missense	132851				apoptosis|spermatogenesis			g.chr4:177116553G>T	AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.161C>A	4.37:g.177116553G>T	ENSP00000280191:p.Ser54Tyr						p.S54Y	NM_144644	NP_653245	Q8NEY3	SPAT4_HUMAN		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)	1	270	-		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)	54					Q8NCS5|Q8WW15	Missense_Mutation	SNP	ENST00000280191.2	37	c.161C>A	CCDS3826.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409734	0.42715	.	.	ENSG00000150628	ENST00000280191	T	0.47869	0.83	4.42	3.55	0.40652	.	0.780131	0.11674	N	0.540583	T	0.44008	0.1273	L	0.32530	0.975	0.21553	N	0.999647	P	0.52842	0.956	P	0.48030	0.564	T	0.26258	-1.0108	10	0.72032	D	0.01	-23.4744	10.3029	0.43663	0.0:0.2006:0.7994:0.0	.	54	Q8NEY3	SPAT4_HUMAN	Y	54	ENSP00000280191:S54Y	ENSP00000280191:S54Y	S	-	2	0	SPATA4	177353547	0.059000	0.20769	0.001000	0.08648	0.245000	0.25701	2.342000	0.43992	1.162000	0.42619	0.585000	0.79938	TCC		0.607	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362326.1		NM_144644		73	91	1	0	2.97807e-44	0.00361	3.46805e-44	73	91		
ING2	3622	broad.mit.edu	37	4	184431737	184431737	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr4:184431737G>A	ENST00000302327.3	+	2	677	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	ING2_ENST00000434682.2_Missense_Mutation_p.E119K	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	159					chromatin modification (GO:0016568)|male germ-line stem cell asymmetric division (GO:0048133)|male meiosis I (GO:0007141)|negative regulation of cell proliferation (GO:0008285)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cellular senescence (GO:2000772)|regulation of growth (GO:0040008)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|seminiferous tubule development (GO:0072520)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleus (GO:0005634)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GCGGACCAGTGAAAGCCGTGA	0.458																																						uc003ivs.1		NaN																	0				ovary(1)	1						c.(475-477)GAA>AAA		inhibitor of growth family, member 2							58.0	60.0	60.0					4																	184431737		2203	4300	6503	SO:0001583	missense	3622				chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding	g.chr4:184431737G>A	AB012853	CCDS3833.1	4q35.1	2013-01-28	2005-02-10	2005-02-11	ENSG00000168556	ENSG00000168556		"""Zinc fingers, PHD-type"""	6063	protein-coding gene	gene with protein product		604215	"""inhibitor of growth family, member 1-like"""	ING1L		10072587	Standard	XM_005262982		Approved	p33ING2	uc003ivs.1	Q9H160	OTTHUMG00000150502	ENST00000302327.3:c.475G>A	4.37:g.184431737G>A	ENSP00000307183:p.Glu159Lys					ING2_uc011ckk.1_Missense_Mutation_p.E119K	p.E159K	NM_001564	NP_001555	Q9H160	ING2_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	2	604	+		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)	159					B6ZDS1|O95698	Missense_Mutation	SNP	ENST00000302327.3	37	c.475G>A	CCDS3833.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478346	0.63849	.	.	ENSG00000168556	ENST00000302327;ENST00000412117;ENST00000434682	.	.	.	5.55	5.55	0.83447	.	0.184923	0.49916	D	0.000128	T	0.76076	0.3937	M	0.66297	2.02	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.70935	0.971;0.971	T	0.67979	-0.5530	9	0.11794	T	0.64	-1.3252	19.6941	0.96016	0.0:0.0:1.0:0.0	.	119;159	B6ZDS1;Q9H160	.;ING2_HUMAN	K	159;119;119	.	ENSP00000307183:E159K	E	+	1	0	ING2	184668731	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.222000	0.95196	2.885000	0.99019	0.655000	0.94253	GAA		0.458	ING2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318652.1		NM_001564		38	48	0	0	0	0.005524	0	38	48		
CDH18	1016	broad.mit.edu	37	5	19473804	19473804	+	Missense_Mutation	SNP	G	G	A	rs147821413		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:19473804G>A	ENST00000507958.1	-	15	2894	c.1904C>T	c.(1903-1905)aCc>aTc	p.T635I	CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.T635I|CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.T635I			Q13634	CAD18_HUMAN	cadherin 18, type 2	635					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GCGCCTCAGGGTGATAAAAAG	0.423																																						uc003jgc.2		NaN																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(1903-1905)ACC>ATC		cadherin 18, type 2 preproprotein							130.0	138.0	135.0					5																	19473804		2203	4299	6502	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19473804G>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1904C>T	5.37:g.19473804G>A	ENSP00000425093:p.Thr635Ile					CDH18_uc003jgd.2_Missense_Mutation_p.T635I|CDH18_uc011cnm.1_3'UTR	p.T635I	NM_004934	NP_004925	Q13634	CAD18_HUMAN			12	2281	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		635			Helical; (Potential).		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1904C>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000488	0.93227	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.58652	0.32;0.32;0.32	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.61085	0.2319	L	0.52011	1.625	0.80722	D	1	P	0.45986	0.87	P	0.46320	0.512	T	0.56044	-0.8044	9	.	.	.	.	19.4236	0.94732	0.0:0.0:1.0:0.0	.	635	Q13634	CAD18_HUMAN	I	635	ENSP00000371710:T635I;ENSP00000425093:T635I;ENSP00000274170:T635I	.	T	-	2	0	CDH18	19509561	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.863000	0.99569	2.937000	0.99478	0.650000	0.86243	ACC		0.423	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1		NM_004934		30	301	0	0	0	0.007291	0	30	301		
AMACR	23600	broad.mit.edu	37	5	33989503	33989503	+	Missense_Mutation	SNP	C	C	T	rs181341030	byFrequency	TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:33989503C>T	ENST00000335606.6	-	5	932	c.844G>A	c.(844-846)Gag>Aag	p.E282K	AMACR_ENST00000502637.1_Missense_Mutation_p.E267K|AMACR_ENST00000382085.3_Missense_Mutation_p.E282K|AMACR_ENST00000514195.1_5'UTR|RP11-1084J3.4_ENST00000382079.3_3'UTR|AMACR_ENST00000382072.2_3'UTR	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	282					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						TGACACCACTCTGCCTTCGTC	0.458																																						uc003jig.2		NaN																	0					0						c.(844-846)GAG>AAG		alpha-methylacyl-CoA racemase isoform 1							95.0	87.0	90.0					5																	33989503		2203	4300	6503	SO:0001583	missense	23600				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity	g.chr5:33989503C>T	AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.844G>A	5.37:g.33989503C>T	ENSP00000334424:p.Glu282Lys					AMACR_uc003jih.2_3'UTR|AMACR_uc003jii.2_Missense_Mutation_p.E267K|AMACR_uc003jij.2_Missense_Mutation_p.E282K	p.E282K	NM_014324	NP_055139	Q9UHK6	AMACR_HUMAN			5	926	-			282					A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	ENST00000335606.6	37	c.844G>A	CCDS3902.1	.	.	.	.	.	.	.	.	.	.	C	36	5.920095	0.97105	.	.	ENSG00000242110	ENST00000335606;ENST00000382085;ENST00000502637	T;T;T	0.58506	0.33;0.33;0.33	5.7	5.7	0.88788	CoA-transferase family III domain (2);	0.045766	0.85682	D	0.000000	D	0.83894	0.5353	H	0.97051	3.93	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.996	P;P;P	0.62435	0.902;0.801;0.801	D	0.88694	0.3211	10	0.87932	D	0	-35.8349	20.1998	0.98258	0.0:1.0:0.0:0.0	.	282;267;282	F8W9N1;D6RB81;Q9UHK6	.;.;AMACR_HUMAN	K	282;282;267	ENSP00000334424:E282K;ENSP00000371517:E282K;ENSP00000424351:E267K	ENSP00000334424:E282K	E	-	1	0	AMACR	34025260	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.496000	0.81526	2.848000	0.98002	0.637000	0.83480	GAG		0.458	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207467.1		NM_014324		63	83	0	0	0	0.00361	0	63	83		
C5orf42	65250	broad.mit.edu	37	5	37169135	37169135	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:37169135C>T	ENST00000508244.1	-	33	7084	c.6991G>A	c.(6991-6993)Gac>Aac	p.D2331N	C5orf42_ENST00000274258.7_Missense_Mutation_p.D1211N|C5orf42_ENST00000425232.2_Missense_Mutation_p.D2331N			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2331						integral component of membrane (GO:0016021)		p.D2331N(1)|p.D1211N(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ACTGAAGAGTCCTGTTGAGGT	0.388																																						uc011cpa.1		NaN																	2	Substitution - Missense(2)		large_intestine(2)	ovary(4)|breast(2)|skin(1)	7						c.(6991-6993)GAC>AAC		hypothetical protein LOC65250							138.0	142.0	141.0					5																	37169135		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37169135C>T		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6991G>A	5.37:g.37169135C>T	ENSP00000421690:p.Asp2331Asn					C5orf42_uc011coy.1_Missense_Mutation_p.D831N|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.D1406N|C5orf42_uc003jkr.1_Missense_Mutation_p.D364N	p.D2331N	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		34	7222	-	all_lung(31;0.000616)		2331					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.6991G>A	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296662	0.23650	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.27402	1.72;1.72;1.67;1.69	5.43	3.65	0.41850	.	0.460663	0.18445	N	0.141027	T	0.23766	0.0575	L	0.47190	1.495	0.09310	N	1	B;B	0.17667	0.023;0.023	B;B	0.18871	0.023;0.023	T	0.24333	-1.0163	10	0.49607	T	0.09	.	3.9092	0.09196	0.1322:0.6065:0.1449:0.1164	.	2331;1211	E9PH94;Q9H799	.;CE042_HUMAN	N	2331;2331;1211;1379;1211	ENSP00000421690:D2331N;ENSP00000389014:D2331N;ENSP00000274258:D1211N;ENSP00000424223:D1379N	ENSP00000274258:D1211N	D	-	1	0	C5orf42	37204892	0.868000	0.29978	0.290000	0.24890	0.012000	0.07955	0.734000	0.26101	0.655000	0.30866	0.655000	0.94253	GAC		0.388	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1		NM_023073		55	96	0	0	0	0.00361	0	55	96		
PPAP2A	8611	broad.mit.edu	37	5	54737704	54737704	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:54737704G>A	ENST00000307259.8	-	4	944	c.524C>T	c.(523-525)tCc>tTc	p.S175F	PPAP2A_ENST00000515132.1_5'Flank|PPAP2A_ENST00000264775.5_Missense_Mutation_p.S176F	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	175					androgen receptor signaling pathway (GO:0030521)|germ cell migration (GO:0008354)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|phospholipid dephosphorylation (GO:0046839)|protein dephosphorylation (GO:0006470)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of lipid metabolic process (GO:0019216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				GCAGTACATGGAAAACGAAGA	0.403																																						uc003jqa.2		NaN																	0				ovary(2)	2						c.(523-525)TCC>TTC		phosphatidic acid phosphatase type 2A isoform 1							185.0	159.0	168.0					5																	54737704		2203	4300	6503	SO:0001583	missense	8611				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr5:54737704G>A	AB000888	CCDS34159.1, CCDS34160.1	5q11	2009-05-27			ENSG00000067113	ENSG00000067113	3.1.3.4		9228	protein-coding gene	gene with protein product		607124				9305923	Standard	NM_003711		Approved	PAP-2a, LPP1	uc003jpz.4	O14494	OTTHUMG00000162240	ENST00000307259.8:c.524C>T	5.37:g.54737704G>A	ENSP00000302229:p.Ser175Phe					PPAP2A_uc003jpz.2_Missense_Mutation_p.S176F|PPAP2A_uc003jqb.2_RNA	p.S175F	NM_003711	NP_003702	O14494	LPP1_HUMAN			4	940	-		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)	175			Helical; (Potential).		B7ZKN8|G3XA95|O60457|O60463|Q17RZ4	Missense_Mutation	SNP	ENST00000307259.8	37	c.524C>T	CCDS34159.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651595	0.88056	.	.	ENSG00000067113	ENST00000264775;ENST00000307259	T;T	0.76968	-1.06;-1.06	5.73	5.73	0.89815	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.099352	0.64402	D	0.000001	D	0.91267	0.7247	H	0.94264	3.515	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	D	0.92951	0.6380	10	0.87932	D	0	-9.281	15.769	0.78149	0.0:0.0:1.0:0.0	.	175;176	O14494;G3XA95	LPP1_HUMAN;.	F	176;175	ENSP00000264775:S176F;ENSP00000302229:S175F	ENSP00000264775:S176F	S	-	2	0	PPAP2A	54773461	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.835000	0.75344	2.868000	0.98415	0.557000	0.71058	TCC		0.403	PPAP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368073.1				6	93	0	0	0	0.001984	0	6	93		
CARTPT	9607	broad.mit.edu	37	5	71015207	71015207	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:71015207G>A	ENST00000296777.4	+	1	218	c.87G>A	c.(85-87)gaG>gaA	p.E29E		NM_004291.3	NP_004282.1	Q16568	CART_HUMAN	CART prepropeptide	29					activation of MAPKK activity (GO:0000186)|adult feeding behavior (GO:0008343)|cell-cell signaling (GO:0007267)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|circadian regulation of gene expression (GO:0032922)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of appetite (GO:0032099)|negative regulation of bone resorption (GO:0045779)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of osteoclast differentiation (GO:0045671)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of epinephrine secretion (GO:0032812)|positive regulation of transmission of nerve impulse (GO:0051971)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|somatostatin secretion (GO:0070253)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|secretory granule (GO:0030141)				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	GTGCCCAGGAGGACGCCGAGC	0.662																																						uc003kbv.1		NaN																	0				ovary(1)	1						c.(85-87)GAG>GAA		cocaine- and amphetamine-regulated transcript	Amphetamine(DB00182)						70.0	68.0	69.0					5																	71015207		2203	4300	6503	SO:0001819	synonymous_variant	9607				activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space		g.chr5:71015207G>A	U16826	CCDS4011.1	5q13.2	2008-02-05			ENSG00000164326	ENSG00000164326			24323	protein-coding gene	gene with protein product	"""cocaine and amphetamine regulated transcript"""	602606				9590691, 8647455	Standard	NM_004291		Approved	CART	uc003kbv.2	Q16568	OTTHUMG00000131261	ENST00000296777.4:c.87G>A	5.37:g.71015207G>A							p.E29E	NM_004291	NP_004282	Q16568	CART_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	1	214	+		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)	29					Q6FG92	Silent	SNP	ENST00000296777.4	37	c.87G>A	CCDS4011.1																																																																																				0.662	CARTPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254029.2		NM_004291		7	127	0	0	0	0.001984	0	7	127		
BTF3	689	broad.mit.edu	37	5	72798768	72798768	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:72798768G>A	ENST00000335895.8	+	4	362	c.211G>A	c.(211-213)Gtg>Atg	p.V71M	BTF3_ENST00000380591.3_Missense_Mutation_p.V115M|BTF3_ENST00000514505.2_3'UTR	NM_001207.4	NP_001198.2	O00478	BT3A3_HUMAN	basic transcription factor 3	0	Ig-like V-type 1.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(2)	5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		CCAAGGAACAGTGATCCACTT	0.363																																						uc003kcr.1		NaN																	0					0						c.(343-345)GTG>ATG		basic transcription factor 3 isoform A							55.0	59.0	58.0					5																	72798768		2203	4300	6503	SO:0001583	missense	689				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding	g.chr5:72798768G>A	M90352	CCDS4019.1, CCDS34185.1	5q13.3	2010-06-17			ENSG00000145741	ENSG00000145741			1125	protein-coding gene	gene with protein product		602542	"""nascent-polypeptide-associated complex beta polypeptide"""	NACB		2320128, 1386332, 15716105	Standard	NM_001207		Approved	BTF3a, BTF3b	uc003kcr.1	P20290	OTTHUMG00000102031	ENST00000335895.8:c.211G>A	5.37:g.72798768G>A	ENSP00000338516:p.Val71Met					BTF3_uc003kcq.1_Missense_Mutation_p.V71M|BTF3_uc003kcs.1_RNA|BTF3_uc003kct.1_RNA	p.V115M	NM_001037637	NP_001032726	P20290	BTF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)	4	586	+		Lung NSC(167;0.00405)|Ovarian(174;0.0175)	115			NAC-A/B.		B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000335895.8	37	c.343G>A	CCDS4019.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114463	0.94339	.	.	ENSG00000145741	ENST00000335895;ENST00000380591;ENST00000507081;ENST00000509708	.	.	.	5.28	5.28	0.74379	Nascent polypeptide-associated complex NAC (2);	0.000000	0.64402	U	0.000002	D	0.84488	0.5483	M	0.93978	3.48	0.80722	D	1	P	0.45902	0.868	P	0.54544	0.755	D	0.88018	0.2767	9	0.66056	D	0.02	-13.2296	19.2707	0.94008	0.0:0.0:1.0:0.0	.	115	P20290	BTF3_HUMAN	M	71;115;33;13	.	ENSP00000338516:V71M	V	+	1	0	BTF3	72834524	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.265000	0.95647	2.620000	0.88729	0.650000	0.86243	GTG		0.363	BTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219815.2		NM_001207		63	98	0	0	0	0.00361	0	63	98		
HOMER1	9456	broad.mit.edu	37	5	78672000	78672000	+	Silent	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:78672000T>C	ENST00000334082.6	-	9	2339	c.897A>G	c.(895-897)aaA>aaG	p.K299K	HOMER1_ENST00000535690.1_Silent_p.K125K|HOMER1_ENST00000282260.6_Silent_p.K169K|HOMER1_ENST00000508576.1_3'UTR	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	299					behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CCTCCAGGTCTTTGTTCCGAA	0.358																																						uc003kfy.2		NaN																	0					0						c.(895-897)AAA>AAG		homer 1							122.0	111.0	114.0					5																	78672000		1826	4079	5905	SO:0001819	synonymous_variant	9456				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane		g.chr5:78672000T>C	BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.897A>G	5.37:g.78672000T>C						HOMER1_uc010jab.2_3'UTR|HOMER1_uc010jac.2_Silent_p.K169K|HOMER1_uc010jad.2_Silent_p.K125K	p.K299K	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)	9	2000	-		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)	299			Potential.		B2R688|O96003|Q86YM5	Silent	SNP	ENST00000334082.6	37	c.897A>G	CCDS43335.1																																																																																				0.358	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1		NM_004272		44	58	0	0	0	0.013114	0	44	58		
RASGRF2	5924	broad.mit.edu	37	5	80409473	80409473	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:80409473G>T	ENST00000265080.4	+	15	2271	c.2204G>T	c.(2203-2205)aGa>aTa	p.R735I	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	735	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GCTGTGTCCAGAACATCTTCC	0.522																																						uc003kha.1		NaN																	0				breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12						c.(2203-2205)AGA>ATA		Ras protein-specific guanine							89.0	89.0	89.0					5																	80409473		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80409473G>T	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2204G>T	5.37:g.80409473G>T	ENSP00000265080:p.Arg735Ile					RASGRF2_uc011ctn.1_RNA	p.R735I	NM_006909	NP_008840	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	15	2204	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	735			N-terminal Ras-GEF.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.2204G>T	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756836	0.69648	.	.	ENSG00000113319	ENST00000265080	T	0.51817	0.69	5.31	5.31	0.75309	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.243530	0.46145	D	0.000318	T	0.55097	0.1899	L	0.57536	1.79	0.80722	D	1	P	0.39624	0.681	P	0.45428	0.48	T	0.55438	-0.8141	10	0.46703	T	0.11	.	18.6673	0.91495	0.0:0.0:1.0:0.0	.	735	O14827	RGRF2_HUMAN	I	735	ENSP00000265080:R735I	ENSP00000265080:R735I	R	+	2	0	RASGRF2	80445229	0.998000	0.40836	0.951000	0.38953	0.245000	0.25701	4.737000	0.62066	2.498000	0.84270	0.650000	0.86243	AGA		0.522	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2		NM_006909		41	67	1	0	1.47197e-15	0.007835	1.6439e-15	41	67		
SRFBP1	153443	broad.mit.edu	37	5	121330336	121330336	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:121330336G>A	ENST00000339397.4	+	4	313	c.241G>A	c.(241-243)Gat>Aat	p.D81N		NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TCTTGGTGATGATATCAACTT	0.254																																						uc003kst.1		NaN																	0					0						c.(241-243)GAT>AAT		serum response factor binding protein 1							53.0	52.0	53.0					5																	121330336		1786	4039	5825	SO:0001583	missense	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121330336G>A	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.241G>A	5.37:g.121330336G>A	ENSP00000341324:p.Asp81Asn						p.D81N	NM_152546	NP_689759	Q8NEF9	SRFB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)	4	313	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	81						Missense_Mutation	SNP	ENST00000339397.4	37	c.241G>A	CCDS43354.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504571	0.64410	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.67	3.89	0.44902	.	0.279585	0.40144	N	0.001166	T	0.44222	0.1283	L	0.52011	1.625	0.32087	N	0.592435	B	0.24882	0.113	B	0.25506	0.061	T	0.50866	-0.8777	9	0.40728	T	0.16	-15.9353	8.2032	0.31436	0.0841:0.1577:0.7582:0.0	.	81	Q8NEF9	SRFB1_HUMAN	N	81	.	ENSP00000341324:D81N	D	+	1	0	SRFBP1	121358235	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	3.312000	0.51927	0.862000	0.35528	0.585000	0.79938	GAT		0.254	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1		NM_152546		14	12	0	0	0	0.00245	0	14	12		
FBN2	2201	broad.mit.edu	37	5	127800489	127800489	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:127800489C>G	ENST00000508053.1	-	12	1728	c.754G>C	c.(754-756)Gag>Cag	p.E252Q	FBN2_ENST00000262464.4_Missense_Mutation_p.E252Q|FBN2_ENST00000508989.1_Missense_Mutation_p.E219Q			P35556	FBN2_HUMAN	fibrillin 2	252	TB 1.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGACACATCTCACAGGGATGG	0.607																																						uc003kuu.2		NaN																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(754-756)GAG>CAG		fibrillin 2 precursor							90.0	83.0	85.0					5																	127800489		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127800489C>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.754G>C	5.37:g.127800489C>G	ENSP00000424571:p.Glu252Gln					FBN2_uc003kuv.2_Missense_Mutation_p.E219Q|FBN2_uc003kuw.3_Missense_Mutation_p.E252Q|FBN2_uc003kux.1_Missense_Mutation_p.E252Q	p.E252Q	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	6	1193	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	252			TB 1.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.754G>C	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142566	0.94560	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;D	0.95518	-3.73;-3.73;-3.73;-3.73	4.96	4.96	0.65561	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.64402	D	0.000002	D	0.97414	0.9154	M	0.71581	2.175	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;0.997;0.997	D;D;D;D	0.91635	0.997;0.999;0.995;0.995	D	0.97098	0.9795	10	0.46703	T	0.11	.	19.0727	0.93147	0.0:1.0:0.0:0.0	.	219;252;219;252	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	Q	252;252;219;252	ENSP00000262464:E252Q;ENSP00000424571:E252Q;ENSP00000425596:E219Q;ENSP00000424753:E252Q	ENSP00000262464:E252Q	E	-	1	0	FBN2	127828388	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.729000	0.84864	2.677000	0.91161	0.585000	0.79938	GAG		0.607	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2		NM_001999		34	121	0	0	0	0.012213	0	34	121		
DDX46	9879	broad.mit.edu	37	5	134102654	134102654	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:134102654C>G	ENST00000354283.4	+	3	389	c.254C>G	c.(253-255)tCt>tGt	p.S85C	DDX46_ENST00000452510.2_Missense_Mutation_p.S85C			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	85	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGAAGAAGATCTCGAAGTAGA	0.473																																					Colon(13;391 453 4901 21675 24897)	uc003kzw.2		NaN																	0				ovary(1)	1						c.(253-255)TCT>TGT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							47.0	55.0	52.0					5																	134102654		2203	4300	6503	SO:0001583	missense	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134102654C>G		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.254C>G	5.37:g.134102654C>G	ENSP00000346236:p.Ser85Cys					DDX46_uc003kzv.1_Intron	p.S85C	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		3	422	+			85			Arg-rich.		O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	c.254C>G	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.877401	0.72294	.	.	ENSG00000145833	ENST00000452510;ENST00000537371;ENST00000354283	T;T	0.44482	0.92;0.92	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.67711	0.2922	M	0.81497	2.545	0.80722	D	1	D	0.69078	0.997	D	0.70935	0.971	T	0.71237	-0.4652	10	0.59425	D	0.04	-12.0575	19.0868	0.93206	0.0:1.0:0.0:0.0	.	85	Q7L014	DDX46_HUMAN	C	85	ENSP00000416534:S85C;ENSP00000346236:S85C	ENSP00000346236:S85C	S	+	2	0	DDX46	134130553	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.405000	0.73272	2.503000	0.84419	0.561000	0.74099	TCT		0.473	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1		NM_014829		10	64	0	0	0	0.006214	0	10	64		
PCDHA3	56145	broad.mit.edu	37	5	140180995	140180995	+	Missense_Mutation	SNP	C	C	A	rs138112183		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:140180995C>A	ENST00000522353.2	+	1	213	c.213C>A	c.(211-213)caC>caA	p.H71Q	PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.H71Q|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	71	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAAAGACACGGGGACCTTC	0.627																																						uc003lhf.2		NaN																	0				ovary(6)|skin(2)	8						c.(211-213)CAC>CAA		protocadherin alpha 3 isoform 1 precursor							72.0	87.0	82.0					5																	140180995		2203	4292	6495	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140180995C>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.213C>A	5.37:g.140180995C>A	ENSP00000429808:p.His71Gln					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.H71Q	p.H71Q	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	213	+			71			Cadherin 1.|Extracellular (Potential).		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.213C>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	4.929	0.172655	0.09391	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.26067	1.76;1.76	4.32	3.44	0.39384	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.164390	0.28641	U	0.014622	T	0.11239	0.0274	N	0.05592	-0.015	0.09310	N	1	B;B	0.24186	0.099;0.047	B;B	0.23716	0.028;0.048	T	0.14671	-1.0464	10	0.59425	D	0.04	.	3.283	0.06922	0.262:0.496:0.1521:0.09	.	71;71	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	Q	71	ENSP00000429808:H71Q;ENSP00000434086:H71Q	ENSP00000429808:H71Q	H	+	3	2	PCDHA3	140161179	0.000000	0.05858	0.761000	0.31378	0.611000	0.37282	-2.023000	0.01438	0.952000	0.37798	0.461000	0.40582	CAC		0.627	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2		NM_018906		58	346	1	0	7.92265e-33	0.00361	9.1869e-33	58	346		
PCDHA12	56137	broad.mit.edu	37	5	140256931	140256931	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:140256931G>T	ENST00000398631.2	+	1	1874	c.1874G>T	c.(1873-1875)gGg>gTg	p.G625V	PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	625	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCACGTGGGGCTGTACACT	0.677																																					Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2		NaN																	0					0						c.(1873-1875)GGG>GTG		protocadherin alpha 12 isoform 1 precursor							229.0	204.0	212.0					5																	140256931		2203	4299	6502	SO:0001583	missense	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140256931G>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1874G>T	5.37:g.140256931G>T	ENSP00000381628:p.Gly625Val					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.G625V	p.G625V	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2001	+			625			Cadherin 6.|Extracellular (Potential).		O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1874G>T	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.477898	0.44044	.	.	ENSG00000251664	ENST00000398631	T	0.39229	1.09	4.71	2.87	0.33458	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.66848	0.2831	M	0.90922	3.16	0.48632	D	0.999685	P;D	0.69078	0.885;0.997	P;D	0.68483	0.563;0.958	T	0.69639	-0.5091	9	0.87932	D	0	.	9.6289	0.39768	0.0:0.2915:0.5578:0.1507	.	625;625	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	V	625	ENSP00000381628:G625V	ENSP00000381628:G625V	G	+	2	0	PCDHA12	140237115	0.007000	0.16637	0.995000	0.50966	0.633000	0.38033	0.102000	0.15272	0.383000	0.24910	0.561000	0.74099	GGG		0.677	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2		NM_018903		53	81	1	0	6.4308e-24	0.00361	7.27134e-24	53	81		
PCDHB11	56125	broad.mit.edu	37	5	140579906	140579906	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:140579906G>C	ENST00000354757.3	+	1	559	c.559G>C	c.(559-561)Gac>Cac	p.D187H	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	187	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTCATTCCAGACAATAGGAA	0.448																																						uc003liy.2		NaN																	0				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(559-561)GAC>CAC		protocadherin beta 11 precursor							60.0	64.0	63.0					5																	140579906		2203	4300	6503	SO:0001583	missense	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140579906G>C	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.559G>C	5.37:g.140579906G>C	ENSP00000346802:p.Asp187His					PCDHB11_uc011daj.1_Intron	p.D187H	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	559	+			187			Extracellular (Potential).|Cadherin 2.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.559G>C	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750253	0.49257	.	.	ENSG00000197479	ENST00000354757	T	0.20200	2.09	2.7	2.7	0.31948	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.43055	0.1230	M	0.86268	2.805	0.58432	D	0.999996	P	0.44690	0.841	P	0.54312	0.748	T	0.53885	-0.8375	9	0.62326	D	0.03	.	13.3974	0.60861	0.0:0.0:1.0:0.0	.	187	Q9Y5F2	PCDBB_HUMAN	H	187	ENSP00000346802:D187H	ENSP00000346802:D187H	D	+	1	0	PCDHB11	140560090	0.994000	0.37717	0.008000	0.14137	0.958000	0.62258	5.098000	0.64548	1.496000	0.48567	0.467000	0.42956	GAC		0.448	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1		NM_018931		13	96	0	0	0	0.001855	0	13	96		
ZBED8	63920	broad.mit.edu	37	5	159822193	159822193	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:159822193C>T	ENST00000408953.3	-	2	812	c.305G>A	c.(304-306)tGt>tAt	p.C102Y	C5orf54_ENST00000523213.1_Missense_Mutation_p.C102Y	NM_022090.3	NP_071373.2														breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						ctccttggcacataaatacgc	0.393																																						uc003lye.1		NaN																	0				pancreas(1)	1						c.(304-306)TGT>TAT		transposon-derived Buster3 transposase-like							96.0	94.0	94.0					5																	159822193		2203	4300	6503	SO:0001583	missense	63920							g.chr5:159822193C>T																												ENST00000408953.3:c.305G>A	5.37:g.159822193C>T	ENSP00000386184:p.Cys102Tyr					C5orf54_uc003lyf.1_Missense_Mutation_p.C102Y	p.C102Y	NM_022090	NP_071373	Q8IZ13	CE054_HUMAN			2	769	-			102						Missense_Mutation	SNP	ENST00000408953.3	37	c.305G>A	CCDS34283.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522215	0.27211	.	.	ENSG00000221886	ENST00000408953;ENST00000523213	T;T	0.13420	2.59;2.59	3.57	3.57	0.40892	.	.	.	.	.	T	0.06917	0.0176	N	0.08118	0	0.29719	N	0.8388	P	0.49253	0.921	B	0.37304	0.246	T	0.06162	-1.0842	9	0.66056	D	0.02	.	10.9973	0.47585	0.0:1.0:0.0:0.0	.	102	Q8IZ13	CE054_HUMAN	Y	102	ENSP00000386184:C102Y;ENSP00000428831:C102Y	ENSP00000386184:C102Y	C	-	2	0	C5orf54	159754771	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.619000	0.46401	2.304000	0.77564	0.650000	0.86243	TGT		0.393	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374143.1				55	52	0	0	0	0.00361	0	55	52		
TXNDC5	81567	broad.mit.edu	37	6	7904949	7904949	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:7904949G>A	ENST00000379757.4	-	2	308	c.271C>T	c.(271-273)Cac>Tac	p.H91Y	TXNDC5_ENST00000473453.1_5'UTR|TXNDC5_ENST00000539054.1_Missense_Mutation_p.H19Y|BLOC1S5-TXNDC5_ENST00000439343.2_Missense_Mutation_p.T127I	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	91	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					CGCTGGCAGTGTCCACACCTG	0.547																																					Ovarian(119;1430 1625 3928 26125 34589)	uc003mxv.2		NaN																	0					0						c.(271-273)CAC>TAC		thioredoxin domain containing 5 isoform 1							105.0	82.0	90.0					6																	7904949		2203	4300	6503	SO:0001583	missense	81567				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity	g.chr6:7904949G>A	AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"""Protein disulfide isomerases"""	21073	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 15"""		"""thioredoxin domain containing 5"""				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.271C>T	6.37:g.7904949G>A	ENSP00000369081:p.His91Tyr					TXNDC5_uc003mxw.2_Missense_Mutation_p.H48Y|TXNDC5_uc010jnz.2_5'UTR|TXNDC5_uc010joa.1_5'UTR	p.H91Y	NM_030810	NP_110437	Q8NBS9	TXND5_HUMAN			2	303	-	Ovarian(93;0.0398)		91			Thioredoxin 1.		B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Missense_Mutation	SNP	ENST00000379757.4	37	c.271C>T	CCDS4505.1	.	.	.	.	.	.	.	.	.	.	.	21.9	4.216263	0.79352	.	.	ENSG00000239264	ENST00000539054;ENST00000379757	T;T	0.03951	3.75;3.75	5.18	5.18	0.71444	Thioredoxin domain (1);Thioredoxin, conserved site (1);Thioredoxin-like fold (3);	0.048637	0.85682	D	0.000000	T	0.17450	0.0419	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	0.975;1.0	D;D	0.91635	0.919;0.999	T	0.01027	-1.1476	10	0.54805	T	0.06	.	17.459	0.87615	0.0:0.0:1.0:0.0	.	19;91	Q86UY0;Q8NBS9	.;TXND5_HUMAN	Y	19;91	ENSP00000442453:H19Y;ENSP00000369081:H91Y	ENSP00000442453:H19Y	H	-	1	0	TXNDC5	7849948	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	8.923000	0.92808	2.388000	0.81334	0.558000	0.71614	CAC		0.547	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039792.1		NM_030810		55	46	0	0	0	0.00361	0	55	46		
DCDC2	51473	broad.mit.edu	37	6	24205258	24205258	+	Missense_Mutation	SNP	T	T	A	rs150003705		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:24205258T>A	ENST00000378454.3	-	8	1296	c.995A>T	c.(994-996)gAt>gTt	p.D332V	DCDC2_ENST00000378450.3_Missense_Mutation_p.D85V	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	332					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				AACCTGAGTATCTTCATCTTC	0.403																																						uc003ndx.2		NaN																	0				ovary(1)	1						c.(994-996)GAT>GTT		doublecortin domain containing 2							268.0	248.0	255.0					6																	24205258		2203	4300	6503	SO:0001583	missense	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24205258T>A	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.995A>T	6.37:g.24205258T>A	ENSP00000367715:p.Asp332Val					DCDC2_uc003ndy.2_Missense_Mutation_p.D332V|DCDC2_uc003ndw.2_Missense_Mutation_p.D83V	p.D332V	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN			8	1297	-		Ovarian(999;0.101)	332					Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	ENST00000378454.3	37	c.995A>T	CCDS4550.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.264600	0.80358	.	.	ENSG00000146038	ENST00000378454;ENST00000378450	T;T	0.55234	4.28;0.53	6.07	6.07	0.98685	.	0.212377	0.49305	D	0.000142	T	0.67002	0.2847	M	0.76574	2.34	0.80722	D	1	P;D	0.76494	0.938;0.999	P;D	0.70016	0.621;0.967	T	0.71846	-0.4469	10	0.87932	D	0	-14.0823	16.3141	0.82909	0.0:0.0:0.0:1.0	.	332;85	Q9UHG0;Q9UHG0-2	DCDC2_HUMAN;.	V	332;85	ENSP00000367715:D332V;ENSP00000367711:D85V	ENSP00000367711:D85V	D	-	2	0	DCDC2	24313237	1.000000	0.71417	0.953000	0.39169	0.992000	0.81027	5.236000	0.65354	2.326000	0.78906	0.533000	0.62120	GAT		0.403	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1		NM_016356		25	387	0	0	0	0.00632	0	25	387		
SLC17A3	10786	broad.mit.edu	37	6	25845738	25845738	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:25845738C>T	ENST00000360657.3	-	11	1420	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K	SLC17A3_ENST00000397060.4_Missense_Mutation_p.E457K|SLC17A3_ENST00000361703.6_Missense_Mutation_p.E379K			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	379					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						CACCCAAACTCAGGGTCCTGG	0.413																																						uc003nfi.3		NaN																	0					0						c.(1135-1137)GAG>AAG		solute carrier family 17 (sodium phosphate),							124.0	115.0	118.0					6																	25845738		2203	4300	6503	SO:0001583	missense	10786				glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	g.chr6:25845738C>T	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.1135G>A	6.37:g.25845738C>T	ENSP00000353873:p.Glu379Lys					SLC17A3_uc003nfk.3_Missense_Mutation_p.E457K	p.E379K	NM_006632	NP_006623	O00476	NPT4_HUMAN			11	1245	-			379					B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	ENST00000360657.3	37	c.1135G>A	CCDS4566.2	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667546	0.67814	.	.	ENSG00000124564	ENST00000505420;ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.62941	-0.01;0.1;0.1	4.87	3.93	0.45458	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.272836	0.26210	N	0.025689	T	0.59810	0.2221	M	0.69823	2.125	0.20975	N	0.999818	P;D	0.67145	0.613;0.996	B;D	0.63703	0.184;0.917	T	0.50415	-0.8831	10	0.16420	T	0.52	.	9.9256	0.41489	0.2028:0.7972:0.0:0.0	.	457;379	B7Z511;O00476	.;NPT4_HUMAN	K	10;457;379;379	ENSP00000380250:E457K;ENSP00000353873:E379K;ENSP00000355307:E379K	ENSP00000353873:E379K	E	-	1	0	SLC17A3	25953717	0.017000	0.18338	0.590000	0.28732	0.951000	0.60555	0.721000	0.25911	2.393000	0.81446	0.655000	0.94253	GAG		0.413	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2				73	44	0	0	0	0.00361	0	73	44		
SLC17A2	10246	broad.mit.edu	37	6	25921506	25921506	+	Silent	SNP	A	A	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:25921506A>T	ENST00000265425.3	-	3	395	c.375T>A	c.(373-375)ggT>ggA	p.G125G	SLC17A2_ENST00000360488.3_Silent_p.G125G|SLC17A2_ENST00000377850.3_Silent_p.G125G			O00624	NPT3_HUMAN	solute carrier family 17, member 2	125					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AGATCAGCAAACCAGCACCAA	0.468																																						uc011dkb.1		NaN																	0				ovary(1)	1						c.(373-375)GGT>GGA		SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2;							152.0	135.0	141.0					6																	25921506		2203	4300	6503	SO:0001819	synonymous_variant	10246				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25921506A>T	U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.375T>A	6.37:g.25921506A>T						SLC17A2_uc011dkc.1_Silent_p.G125G|SLC17A2_uc003nfl.2_Silent_p.G125G	p.G125G			O00624	NPT3_HUMAN			3	458	-			125					A6NK81|A6NLD6|Q5TB84|Q76P85	Silent	SNP	ENST00000265425.3	37	c.375T>A																																																																																					0.468	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1				19	129	0	0	0	0.008871	0	19	129		
ZNF184	7738	broad.mit.edu	37	6	27425078	27425078	+	Silent	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:27425078T>A	ENST00000211936.6	-	4	470	c.186A>T	c.(184-186)acA>acT	p.T62T	ZNF184_ENST00000377419.1_Silent_p.T62T	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	62	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGACCAGGTGTGTATAATTTT	0.448																																						uc003njj.2		NaN																	0				ovary(1)	1						c.(184-186)ACA>ACT		zinc finger protein 184							128.0	122.0	124.0					6																	27425078		2203	4300	6503	SO:0001819	synonymous_variant	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27425078T>A	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.186A>T	6.37:g.27425078T>A						ZNF184_uc010jqv.2_Silent_p.T62T|ZNF184_uc003nji.2_Silent_p.T62T	p.T62T	NM_007149	NP_009080	Q99676	ZN184_HUMAN			3	997	-			62			KRAB.		B2R715|O60792|Q8TBA9	Silent	SNP	ENST00000211936.6	37	c.186A>T	CCDS4624.1																																																																																				0.448	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1		NM_007149		12	134	0	0	0	0.001368	0	12	134		
OR2B2	81697	broad.mit.edu	37	6	27879892	27879892	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:27879892A>T	ENST00000303324.2	-	1	282	c.206T>A	c.(205-207)cTg>cAg	p.L69Q		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GCAAAGGTCCAGGAGTGAGAG	0.413																																						uc011dkw.1		NaN																	0					0						c.(205-207)CTG>CAG		olfactory receptor, family 2, subfamily B,							143.0	131.0	135.0					6																	27879892		2203	4300	6503	SO:0001583	missense	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879892A>T	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.206T>A	6.37:g.27879892A>T	ENSP00000304419:p.Leu69Gln						p.L69Q	NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN			1	206	-			69			Helical; Name=2; (Potential).		B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	37	c.206T>A	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.961094	0.34565	.	.	ENSG00000168131	ENST00000303324	T	0.14893	2.47	4.52	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31246	U	0.007989	T	0.41604	0.1166	H	0.95437	3.67	0.24063	N	0.996007	D	0.89917	1.0	D	0.72075	0.976	T	0.50466	-0.8825	10	0.87932	D	0	.	12.4261	0.55548	1.0:0.0:0.0:0.0	.	69	Q9GZK3	OR2B2_HUMAN	Q	69	ENSP00000304419:L69Q	ENSP00000304419:L69Q	L	-	2	0	OR2B2	27987871	0.007000	0.16637	0.937000	0.37676	0.168000	0.22595	2.305000	0.43664	1.965000	0.57142	0.460000	0.39030	CTG		0.413	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1				37	80	0	0	0	0.005524	0	37	80		
ZSCAN9	7746	broad.mit.edu	37	6	28200426	28200426	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:28200426G>C	ENST00000252207.5	+	4	803	c.655G>C	c.(655-657)Gag>Cag	p.E219Q	ZSCAN9_ENST00000425468.2_Missense_Mutation_p.E270Q|ZSCAN9_ENST00000531979.1_Missense_Mutation_p.E219Q	NM_006299.4	NP_006290.1	O15535	ZSC9_HUMAN	zinc finger and SCAN domain containing 9	219					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AATGTTTAATGAGCAGACCTG	0.458																																						uc003nkq.1		NaN																	0					0						c.(655-657)GAG>CAG		zinc finger protein 193							75.0	66.0	69.0					6																	28200426		2203	4300	6503	SO:0001583	missense	7746				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28200426G>C	U62392	CCDS4646.1, CCDS56407.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000137185	ENSG00000137185		"""-"", ""Zinc fingers, C2H2-type"""	12984	protein-coding gene	gene with protein product		602246	"""zinc finger protein 193"""	ZNF193			Standard	NM_001199479		Approved	PRD51	uc003nkq.2	O15535	OTTHUMG00000014515	ENST00000252207.5:c.655G>C	6.37:g.28200426G>C	ENSP00000252207:p.Glu219Gln					ZNF193_uc003nkr.1_Missense_Mutation_p.E219Q|ZNF193_uc010jqz.1_Missense_Mutation_p.E270Q	p.E219Q	NM_006299	NP_006290	O15535	ZN193_HUMAN			4	770	+			219					B4E1W6|E7EVQ2|Q2TTR1	Missense_Mutation	SNP	ENST00000252207.5	37	c.655G>C	CCDS4646.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332347	0.41297	.	.	ENSG00000137185	ENST00000425468;ENST00000252207;ENST00000531979;ENST00000527844	T;T;T;T	0.06371	3.31;3.31;3.31;3.47	4.14	-0.304	0.12788	.	.	.	.	.	T	0.00815	0.0027	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.003	T	0.47861	-0.9084	9	0.23891	T	0.37	.	4.0463	0.09774	0.2395:0.3896:0.3709:0.0	.	270;219	E7EVQ2;O15535	.;ZN193_HUMAN	Q	270;219;219;248	ENSP00000404074:E270Q;ENSP00000252207:E219Q;ENSP00000433402:E219Q;ENSP00000436166:E248Q	ENSP00000252207:E219Q	E	+	1	0	ZNF193	28308405	0.000000	0.05858	0.000000	0.03702	0.940000	0.58332	-1.219000	0.02973	0.105000	0.17753	0.655000	0.94253	GAG		0.458	ZSCAN9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040183.2		NM_006299		13	85	0	0	0	0.001368	0	13	85		
PPP1R11	6992	broad.mit.edu	37	6	30035194	30035194	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:30035194G>T	ENST00000376772.3	+	1	330	c.7G>T	c.(7-9)Gag>Tag	p.E3*	PPP1R11_ENST00000376763.1_5'Flank|PPP1R11_ENST00000376769.2_5'UTR|PPP1R11_ENST00000376765.2_5'Flank|PPP1R11_ENST00000376758.1_5'Flank|PPP1R11_ENST00000376773.1_Intron	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 11	3						cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			lung(2)|ovary(1)|prostate(1)|skin(2)	6						AGCCATGGCCGAGGCAGGGGC	0.607																																					Pancreas(185;1767 3918 43793)	uc003npb.2		NaN																	0				ovary(1)|lung(1)|skin(1)	3						c.(7-9)GAG>TAG		protein phosphatase 1, regulatory (inhibitor)							54.0	53.0	53.0					6																	30035194		2203	4300	6503	SO:0001587	stop_gained	6992					soluble fraction	protein binding|protein phosphatase inhibitor activity	g.chr6:30035194G>T	X81003	CCDS4671.1	6p21.3	2012-04-17			ENSG00000204619	ENSG00000204619		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9285	protein-coding gene	gene with protein product		606670		TCTE5		9843442, 8781118	Standard	NM_021959		Approved	HCGV, Tctex5, HCG-V	uc003npb.3	O60927	OTTHUMG00000031260	ENST00000376772.3:c.7G>T	6.37:g.30035194G>T	ENSP00000365963:p.Glu3*					PPP1R11_uc010jrw.2_RNA|PPP1R11_uc003npc.2_RNA	p.E3*	NM_021959	NP_068778	O60927	PP1RB_HUMAN			1	263	+			3						Nonsense_Mutation	SNP	ENST00000376772.3	37	c.7G>T	CCDS4671.1	.	.	.	.	.	.	.	.	.	.	G	40	8.453855	0.98817	.	.	ENSG00000204619	ENST00000376772	.	.	.	5.15	4.29	0.51040	.	0.112528	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	1.4106	9.3888	0.38361	0.0956:0.0:0.9044:0.0	.	.	.	.	X	3	.	ENSP00000365963:E3X	E	+	1	0	PPP1R11	30143173	0.997000	0.39634	0.980000	0.43619	0.994000	0.84299	3.081000	0.50120	1.412000	0.46977	0.643000	0.83706	GAG		0.607	PPP1R11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076557.3		NM_021959		31	171	1	0	1.45844e-13	0.002836	1.62214e-13	31	171		
PPP1R18	170954	broad.mit.edu	37	6	30652748	30652748	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:30652748C>G	ENST00000274853.3	-	1	2924	c.1048G>C	c.(1048-1050)Gag>Cag	p.E350Q	PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Missense_Mutation_p.E350Q	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	350						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											GTTTGAGCCTCTATGTCCCTG	0.577																																						uc003nra.2		NaN																	0					0						c.(1048-1050)GAG>CAG		phostensin							119.0	139.0	132.0					6																	30652748		1381	2625	4006	SO:0001583	missense	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30652748C>G	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29413	protein-coding gene	gene with protein product	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	610990	"""KIAA1949"""	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.1048G>C	6.37:g.30652748C>G	ENSP00000274853:p.Glu350Gln					KIAA1949_uc003nrb.3_Missense_Mutation_p.E350Q	p.E350Q	NM_001134870	NP_001128342	Q6NYC8	PHTNS_HUMAN			2	1279	-			350					A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Missense_Mutation	SNP	ENST00000274853.3	37	c.1048G>C	CCDS43444.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396353	0.42512	.	.	ENSG00000146112	ENST00000274853;ENST00000399199	T;T	0.33654	1.4;1.4	5.1	5.1	0.69264	.	0.166789	0.28290	N	0.015893	T	0.28067	0.0692	L	0.32530	0.975	0.28159	N	0.929054	D	0.58268	0.982	P	0.52793	0.709	T	0.05007	-1.0912	10	0.39692	T	0.17	-8.8433	17.2657	0.87086	0.0:1.0:0.0:0.0	.	350	Q6NYC8	PPR18_HUMAN	Q	350	ENSP00000274853:E350Q;ENSP00000382150:E350Q	ENSP00000274853:E350Q	E	-	1	0	KIAA1949	30760727	0.666000	0.27475	0.207000	0.23584	0.088000	0.18126	2.347000	0.44036	2.369000	0.80426	0.561000	0.74099	GAG		0.577	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2		NM_133471		16	295	0	0	0	0.003163	0	16	295		
CCHCR1	54535	broad.mit.edu	37	6	31110756	31110756	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:31110756G>C	ENST00000376266.5	-	17	2330	c.2208C>G	c.(2206-2208)acC>acG	p.T736T	CCHCR1_ENST00000396263.2_Silent_p.T683T|CCHCR1_ENST00000451521.2_Silent_p.T789T|CCHCR1_ENST00000396268.3_Silent_p.T825T	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	736					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						TGGACTCCCTGGTGGGCACTG	0.532																																						uc003nsr.3		NaN																	0				skin(1)	1						c.(2206-2208)ACC>ACG		coiled-coil alpha-helical rod protein 1 isoform							333.0	389.0	369.0					6																	31110756		1510	2709	4219	SO:0001819	synonymous_variant	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31110756G>C	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.2208C>G	6.37:g.31110756G>C						CCHCR1_uc011dne.1_Silent_p.T722T|CCHCR1_uc003nsq.3_Silent_p.T789T|CCHCR1_uc003nsp.3_Silent_p.T825T	p.T736T	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN			17	2331	-			736					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Silent	SNP	ENST00000376266.5	37	c.2208C>G	CCDS4695.1																																																																																				0.532	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5		NM_019052		61	779	0	0	0	0.00361	0	61	779		
VWA7	80737	broad.mit.edu	37	6	31733741	31733741	+	Silent	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:31733741C>G	ENST00000375688.4	-	16	2618	c.2418G>C	c.(2416-2418)gtG>gtC	p.V806V	VWA7_ENST00000467576.1_5'Flank|SAPCD1-AS1_ENST00000419679.1_RNA|VWA7_ENST00000375686.3_Silent_p.V806V			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	806						extracellular region (GO:0005576)											CCCCTGCAGTCACAGTCACCA	0.637																																						uc011dog.1		NaN																	0				ovary(3)	3						c.(2416-2418)GTG>GTC		G7c protein precursor							124.0	144.0	137.0					6																	31733741		1510	2709	4219	SO:0001819	synonymous_variant	80737					extracellular region		g.chr6:31733741C>G		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.2418G>C	6.37:g.31733741C>G							p.V806V	NM_025258	NP_079534	Q9Y334	G7C_HUMAN			16	2656	-			806					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Silent	SNP	ENST00000375688.4	37	c.2418G>C	CCDS4721.2																																																																																				0.637	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2		NM_025258		24	440	0	0	0	0.00278	0	24	440		
DAXX	1616	broad.mit.edu	37	6	33289243	33289243	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:33289243C>T	ENST00000374542.5	-	3	513	c.309G>A	c.(307-309)gcG>gcA	p.A103A	DAXX_ENST00000477162.1_Intron|DAXX_ENST00000266000.6_Silent_p.A103A|DAXX_ENST00000414083.2_Silent_p.A28A	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	103	Necessary for interaction with USP7 and ATRX.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.A103fs*40(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TGCAGAACTCCGCCGAGGCCA	0.562			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	uc003oec.2		NaN		Rec	yes		6	6p21.3	1616	Mis|F|N	death-domain associated protein			E			Pancreatic neuroendocrine tumors		1	Deletion - Frameshift(1)	p.A103fs*40(1)	pancreas(1)	pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						c.(307-309)GCG>GCA		death-domain associated protein isoform a							67.0	73.0	71.0					6																	33289243		2203	4300	6503	SO:0001819	synonymous_variant	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33289243C>T	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.309G>A	6.37:g.33289243C>T						DAXX_uc011drd.1_Silent_p.A28A|DAXX_uc011dre.1_Silent_p.A115A|DAXX_uc003oed.2_Silent_p.A103A|DAXX_uc010juw.2_Silent_p.A28A	p.A103A	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN			3	513	-			103			Necessary for interaction with USP7.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Silent	SNP	ENST00000374542.5	37	c.309G>A	CCDS4776.1																																																																																				0.562	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1				10	271	0	0	0	0.008291	0	10	271		
LHFPL5	222662	broad.mit.edu	37	6	35773642	35773642	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:35773642C>G	ENST00000373853.1	+	1	573	c.195C>G	c.(193-195)ttC>ttG	p.F65L	LHFPL5_ENST00000360215.1_Missense_Mutation_p.F65L			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	65					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TCGGCCTTTTCTCCTACTGCG	0.587																																						uc003olg.1		NaN																	0				skin(1)	1						c.(193-195)TTC>TTG		lipoma HMGIC fusion partner-like 5							235.0	212.0	220.0					6																	35773642		2203	4300	6503	SO:0001583	missense	222662					integral to membrane		g.chr6:35773642C>G	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.195C>G	6.37:g.35773642C>G	ENSP00000362960:p.Phe65Leu						p.F65L	NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN			1	572	+			65			Helical; (Potential).		B3KX66	Missense_Mutation	SNP	ENST00000373853.1	37	c.195C>G	CCDS4812.1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.259240	0.80246	.	.	ENSG00000197753	ENST00000373853;ENST00000360215	T;T	0.76839	-1.05;-1.05	5.3	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.76090	0.3939	M	0.88704	2.975	0.38484	D	0.947791	P	0.38617	0.64	B	0.42386	0.386	T	0.78079	-0.2344	10	0.35671	T	0.21	-10.9196	11.5826	0.50900	0.0:0.8583:0.0:0.1417	.	65	Q8TAF8	TMHS_HUMAN	L	65	ENSP00000362960:F65L;ENSP00000353346:F65L	ENSP00000353346:F65L	F	+	3	2	LHFPL5	35881620	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.134000	0.42102	2.490000	0.84030	0.537000	0.68136	TTC		0.587	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1		NM_182548		311	165	0	0	0	0.00361	0	311	165		
KIF6	221458	broad.mit.edu	37	6	39545887	39545887	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:39545887C>A	ENST00000287152.7	-	10	1220	c.1126G>T	c.(1126-1128)Gcc>Tcc	p.A376S	KIF6_ENST00000373216.3_Missense_Mutation_p.A376S|KIF6_ENST00000373213.4_Missense_Mutation_p.A215S|KIF6_ENST00000373215.3_Missense_Mutation_p.A376S|KIF6_ENST00000538893.1_Missense_Mutation_p.A376S	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	376					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GTGACCATGGCCAGTTCATCC	0.428																																						uc003oot.2		NaN																	0				breast(2)|central_nervous_system(1)	3						c.(1126-1128)GCC>TCC		kinesin family member 6							162.0	148.0	153.0					6																	39545887		2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39545887C>A	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1126G>T	6.37:g.39545887C>A	ENSP00000287152:p.Ala376Ser					KIF6_uc010jxa.1_Missense_Mutation_p.A167S|KIF6_uc011dua.1_Missense_Mutation_p.A376S|KIF6_uc010jxb.1_Missense_Mutation_p.A376S	p.A376S	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN			10	1221	-			376			Potential.		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.1126G>T	CCDS4844.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.06|18.06	3.538813|3.538813	0.65085|0.65085	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893|ENST00000458470	T;T;T;T;T|.	0.72942|.	-0.7;-0.7;-0.7;-0.7;-0.7|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|.	.|.	.|.	.|.	T|T	0.65790|0.65790	0.2725|0.2725	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	D;P;P;D|.	0.55172|.	0.969;0.57;0.753;0.97|.	P;B;P;P|.	0.55087|.	0.768;0.39;0.511;0.591|.	T|T	0.65861|0.65861	-0.6065|-0.6065	9|5	0.30078|.	T|.	0.28|.	.|.	13.522|13.522	0.61574|0.61574	0.0:0.9245:0.0:0.0755|0.0:0.9245:0.0:0.0755	.|.	376;376;376;376|.	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9|.	.;.;.;KIF6_HUMAN|.	S|C	376;376;215;376;376|267	ENSP00000287152:A376S;ENSP00000362312:A376S;ENSP00000362309:A215S;ENSP00000362311:A376S;ENSP00000441435:A376S|.	ENSP00000287152:A376S|.	A|W	-|-	1|3	0|0	KIF6|KIF6	39653865|39653865	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	3.238000|3.238000	0.51352|0.51352	2.643000|2.643000	0.89663|0.89663	0.655000|0.655000	0.94253|0.94253	GCC|TGG		0.428	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2		NM_145027		19	201	1	0	2.4624e-09	0.008871	2.67865e-09	19	201		
TREM2	54209	broad.mit.edu	37	6	41126740	41126740	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:41126740A>T	ENST00000373113.3	-	4	640	c.547T>A	c.(547-549)Ttt>Att	p.F183I	TREM2_ENST00000373122.4_Missense_Mutation_p.L196H|TREM2_ENST00000338469.3_Intron	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	183					axon guidance (GO:0007411)|dendritic cell differentiation (GO:0097028)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of C-C chemokine receptor CCR7 signaling pathway (GO:1903082)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of CD40 signaling pathway (GO:2000350)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to plasma membrane (GO:1903078)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTGATGAGAAAGATGCAGGCC	0.567																																						uc003opy.2		NaN																	0				ovary(1)	1						c.(547-549)TTT>ATT		triggering receptor expressed on myeloid cells 2							52.0	57.0	55.0					6																	41126740		2203	4300	6503	SO:0001583	missense	54209				axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr6:41126740A>T	AF213457	CCDS4852.1, CCDS64422.1	6p21.1	2014-09-17	2002-08-15		ENSG00000095970	ENSG00000095970		"""Immunoglobulin superfamily / V-set domain containing"""	17761	protein-coding gene	gene with protein product		605086	"""triggering receptor expressed on myeloid cells 2a"""			10799849, 12080485	Standard	NM_001271821		Approved	TREM-2, Trem2a, Trem2b, Trem2c	uc003opy.3	Q9NZC2	OTTHUMG00000014671	ENST00000373113.3:c.547T>A	6.37:g.41126740A>T	ENSP00000362205:p.Phe183Ile					TREM2_uc003opz.2_Missense_Mutation_p.L226H|TREM2_uc010jxl.1_Intron	p.F183I	NM_018965	NP_061838	Q9NZC2	TREM2_HUMAN			4	649	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		183			Helical; (Potential).		Q8N5H8|Q8WYN6	Missense_Mutation	SNP	ENST00000373113.3	37	c.547T>A	CCDS4852.1	.	.	.	.	.	.	.	.	.	.	A	12.57	1.977549	0.34848	.	.	ENSG00000095970	ENST00000373113	T	0.45276	0.9	4.92	1.19	0.21007	.	0.376195	0.23219	N	0.050597	T	0.16642	0.0400	L	0.60455	1.87	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	T	0.07290	-1.0780	10	0.54805	T	0.06	-6.0358	2.9236	0.05777	0.6124:0.0:0.2044:0.1832	.	183	Q9NZC2	TREM2_HUMAN	I	183	ENSP00000362205:F183I	ENSP00000362205:F183I	F	-	1	0	TREM2	41234718	1.000000	0.71417	0.835000	0.33067	0.743000	0.42351	2.366000	0.44204	0.117000	0.18138	-0.350000	0.07774	TTT		0.567	TREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040499.1		NM_018965		11	104	0	0	0	0.008291	0	11	104		
PRICKLE4	29964	broad.mit.edu	37	6	41754506	41754506	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:41754506C>T	ENST00000394260.1	+	5	674	c.674C>T	c.(673-675)aCt>aTt	p.T225I	TOMM6_ENST00000398881.3_5'Flank|TOMM6_ENST00000398884.3_5'Flank|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.T265I|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.T265I			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	225						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ACAGGGGAGACTGGACTCGAC	0.662																																						uc011duf.1		NaN																	0					0						c.(793-795)ACT>ATT		over-expressed breast tumor protein							62.0	51.0	55.0					6																	41754506		2188	4265	6453	SO:0001583	missense	29964					nucleus	zinc ion binding	g.chr6:41754506C>T	AF216754	CCDS34449.1	6p21.1	2010-08-05	2007-09-18	2007-09-18	ENSG00000124593	ENSG00000124593			16805	protein-coding gene	gene with protein product		611389	"""chromosome 6 open reading frame 49"""	C6orf49		15702247	Standard	NM_013397		Approved	OEBT, DKFZp761H221	uc011duf.1	Q2TBC4	OTTHUMG00000014685	ENST00000394260.1:c.674C>T	6.37:g.41754506C>T	ENSP00000377803:p.Thr225Ile					PRICKLE4_uc003ord.2_RNA|TOMM6_uc003org.2_RNA|TOMM6_uc011dug.1_5'Flank	p.T265I	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		8	1042	+	Ovarian(28;0.0355)|Colorectal(47;0.121)		225					A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	Missense_Mutation	SNP	ENST00000394260.1	37	c.794C>T		.	.	.	.	.	.	.	.	.	.	C	13.28	2.189258	0.38707	.	.	ENSG00000124593	ENST00000458694;ENST00000394263;ENST00000394260	T;T;T	0.63580	-0.05;-0.05;-0.05	3.93	-0.311	0.12761	.	1.160920	0.06474	N	0.731642	T	0.21103	0.0508	N	0.14661	0.345	0.09310	N	0.999995	B	0.23806	0.091	B	0.21360	0.034	T	0.21143	-1.0254	10	0.40728	T	0.16	3.0389	7.0691	0.25169	0.5093:0.3351:0.1556:0.0	.	265	Q2TBC4-3	.	I	265;265;225	ENSP00000404911:T265I;ENSP00000377806:T265I;ENSP00000377803:T225I	ENSP00000335185:T265I	T	+	2	0	PRICKLE4	41862484	0.000000	0.05858	0.000000	0.03702	0.200000	0.23975	0.037000	0.13840	-0.068000	0.12953	0.561000	0.74099	ACT		0.662	PRICKLE4-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000303948.1		NM_013397		14	193	0	0	0	0.001855	0	14	193		
HTR1B	3351	broad.mit.edu	37	6	78172393	78172393	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:78172393G>A	ENST00000369947.2	-	1	1097	c.728C>T	c.(727-729)aCg>aTg	p.T243M		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	243					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.T243M(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CCTGTTGGGCGTCTGTTTCAA	0.612																																						uc003pil.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(727-729)ACG>ATG		5-hydroxytryptamine (serotonin) receptor 1B	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)						53.0	60.0	58.0					6																	78172393		2203	4300	6503	SO:0001583	missense	3351				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr6:78172393G>A	BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.728C>T	6.37:g.78172393G>A	ENSP00000358963:p.Thr243Met						p.T243M	NM_000863	NP_000854	P28222	5HT1B_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.205)	1	728	-		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)	243			Cytoplasmic (By similarity).		Q4VAY7	Missense_Mutation	SNP	ENST00000369947.2	37	c.728C>T	CCDS4986.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867036	0.72065	.	.	ENSG00000135312	ENST00000369947	T	0.35789	1.29	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.289076	0.33477	N	0.004877	T	0.35098	0.0920	N	0.22421	0.69	0.54753	D	0.999983	D	0.71674	0.998	D	0.65874	0.939	T	0.04307	-1.0961	9	.	.	.	.	18.1271	0.89589	0.0:0.0:1.0:0.0	.	243	P28222	5HT1B_HUMAN	M	243	ENSP00000358963:T243M	.	T	-	2	0	HTR1B	78229112	1.000000	0.71417	0.996000	0.52242	0.924000	0.55760	9.503000	0.97984	2.762000	0.94881	0.555000	0.69702	ACG		0.612	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1		NM_000863		69	37	0	0	0	0.00361	0	69	37		
DSE	29940	broad.mit.edu	37	6	116757645	116757645	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:116757645C>T	ENST00000331677.3	+	7	2458	c.2014C>T	c.(2014-2016)Cag>Tag	p.Q672*	DSE_ENST00000537543.1_Nonsense_Mutation_p.Q691*|DSE_ENST00000452085.3_Nonsense_Mutation_p.Q672*|DSE_ENST00000359564.2_Nonsense_Mutation_p.Q672*			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	672					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TATAGATGTTCAGAGCTTCAC	0.517																																						uc003pws.2		NaN																	0				ovary(1)	1						c.(2014-2016)CAG>TAG		dermatan sulfate epimerase precursor							99.0	93.0	95.0					6																	116757645		2203	4300	6503	SO:0001587	stop_gained	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116757645C>T	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.2014C>T	6.37:g.116757645C>T	ENSP00000332151:p.Gln672*					DSE_uc011ebg.1_Nonsense_Mutation_p.Q691*|DSE_uc003pwt.2_Nonsense_Mutation_p.Q672*|DSE_uc003pwu.2_Nonsense_Mutation_p.Q339*	p.Q672*	NM_001080976	NP_001074445	Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	6	2208	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	672					Q5R3K6	Nonsense_Mutation	SNP	ENST00000331677.3	37	c.2014C>T	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576094	0.86645	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	.	.	.	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-14.2162	15.9414	0.79756	0.0:0.8659:0.1341:0.0	.	.	.	.	X	672;691;672;672	.	ENSP00000332151:Q672X	Q	+	1	0	DSE	116864338	0.998000	0.40836	1.000000	0.80357	0.214000	0.24535	3.788000	0.55446	2.861000	0.98227	0.650000	0.86243	CAG		0.517	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2		NM_013352		55	127	0	0	0	0.00361	0	55	127		
VNN1	8876	broad.mit.edu	37	6	133014264	133014264	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:133014264A>G	ENST00000367928.4	-	4	738	c.725T>C	c.(724-726)tTg>tCg	p.L242S		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	242	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		CAAATGTGGCAAAACATTCAT	0.428																																						uc003qdo.2		NaN																	0				ovary(3)	3						c.(724-726)TTG>TCG		vanin 1 precursor							140.0	120.0	127.0					6																	133014264		2203	4300	6503	SO:0001583	missense	8876				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity	g.chr6:133014264A>G	AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"""Vanins"""	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.725T>C	6.37:g.133014264A>G	ENSP00000356905:p.Leu242Ser						p.L242S	NM_004666	NP_004657	O95497	VNN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)	4	745	-	Breast(56;0.135)		242			CN hydrolase.		A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	ENST00000367928.4	37	c.725T>C	CCDS5159.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.355424	0.82243	.	.	ENSG00000112299	ENST00000367928	D	0.88201	-2.35	6.07	6.07	0.98685	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.000000	0.64402	D	0.000011	D	0.94003	0.8079	M	0.85777	2.775	0.48830	D	0.999715	D	0.71674	0.998	D	0.67382	0.951	D	0.94702	0.7884	10	0.72032	D	0.01	-28.2406	16.6288	0.85011	1.0:0.0:0.0:0.0	.	242	O95497	VNN1_HUMAN	S	242	ENSP00000356905:L242S	ENSP00000356905:L242S	L	-	2	0	VNN1	133055957	0.950000	0.32346	0.995000	0.50966	0.973000	0.67179	7.109000	0.77062	2.326000	0.78906	0.533000	0.62120	TTG		0.428	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1				50	34	0	0	0	0.00361	0	50	34		
STX11	8676	broad.mit.edu	37	6	144508445	144508445	+	Silent	SNP	C	C	G	rs145774130	byFrequency	TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:144508445C>G	ENST00000367568.4	+	2	864	c.681C>G	c.(679-681)ctC>ctG	p.L227L		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	227	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		TACACGAGCTCTTCTTGCAGA	0.652									Familial Hemophagocytic Lymphohistiocytosis																													uc003qks.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(679-681)CTC>CTG		syntaxin 11							51.0	47.0	49.0					6																	144508445		2203	4300	6503	SO:0001819	synonymous_variant	8676	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144508445C>G	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.681C>G	6.37:g.144508445C>G							p.L227L	NM_003764	NP_003755	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	873	+			227			t-SNARE coiled-coil homology.		E1P598|O75378|O95148|Q5TCL6	Silent	SNP	ENST00000367568.4	37	c.681C>G	CCDS5205.1																																																																																				0.652	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1				41	25	0	0	0	0.006999	0	41	25		
IYD	389434	broad.mit.edu	37	6	150713540	150713540	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:150713540G>C	ENST00000344419.3	+	3	570	c.430G>C	c.(430-432)Gac>Cac	p.D144H	IYD_ENST00000425615.3_Missense_Mutation_p.D89H|IYD_ENST00000500320.3_Missense_Mutation_p.D144H|IYD_ENST00000392255.3_Missense_Mutation_p.D144H|IYD_ENST00000392256.2_Missense_Mutation_p.D144H|IYD_ENST00000229447.5_Missense_Mutation_p.D144H	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	144					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		GAAGGACCCAGACGTGAAGCA	0.493																																						uc003qnu.1		NaN																	0				ovary(2)	2						c.(430-432)GAC>CAC		iodotyrosine dehalogenase 1 isoform 2							124.0	115.0	118.0					6																	150713540		2203	4300	6503	SO:0001583	missense	389434				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		g.chr6:150713540G>C	AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"""chromosome 6 open reading frame 71"""	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.430G>C	6.37:g.150713540G>C	ENSP00000343763:p.Asp144His					IYD_uc003qnv.1_Missense_Mutation_p.D144H|IYD_uc003qnw.1_RNA|IYD_uc003qnx.1_Missense_Mutation_p.D144H|IYD_uc010kik.1_Missense_Mutation_p.D62H	p.D144H	NM_203395	NP_981932	Q6PHW0	IYD1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)	3	570	+		Ovarian(120;0.028)	144			Extracellular (Potential).		C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	ENST00000344419.3	37	c.430G>C	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419480	0.25552	.	.	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320;ENST00000425615	T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	5.92	5.05	0.67936	Nitroreductase-like (3);	0.418271	0.28778	N	0.014175	T	0.71273	0.3320	M	0.86097	2.795	0.22435	N	0.999101	P;P;P;P	0.41569	0.603;0.755;0.689;0.462	B;P;B;B	0.48400	0.425;0.576;0.287;0.402	T	0.69038	-0.5251	10	0.59425	D	0.04	-4.3462	13.4693	0.61273	0.0:0.1202:0.7548:0.1251	.	62;144;144;144	Q2VPV9;C9JFW2;Q6PHW0-3;Q6PHW0	.;.;.;IYD1_HUMAN	H	144;144;144;144;144;89	ENSP00000229447:D144H;ENSP00000343763:D144H;ENSP00000376085:D144H;ENSP00000376084:D144H;ENSP00000441276:D144H;ENSP00000390081:D89H	ENSP00000229447:D144H	D	+	1	0	IYD	150755233	0.998000	0.40836	0.204000	0.23530	0.713000	0.41058	3.501000	0.53325	1.514000	0.48869	0.561000	0.74099	GAC		0.493	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3		NM_203395		23	196	0	0	0	0.012319	0	23	196		
TIAM2	26230	broad.mit.edu	37	6	155451184	155451184	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:155451184G>T	ENST00000461783.3	+	6	2100	c.827G>T	c.(826-828)aGt>aTt	p.S276I	TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.S276I|TIAM2_ENST00000529824.2_Missense_Mutation_p.S276I|TIAM2_ENST00000318981.5_Missense_Mutation_p.S276I|TIAM2_ENST00000456144.1_Missense_Mutation_p.S276I			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	276					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCTGACCCCAGTCTCCATGCC	0.602																																						uc003qqb.2		NaN																	0				ovary(3)|breast(1)	4						c.(826-828)AGT>ATT		T-cell lymphoma invasion and metastasis 2							56.0	56.0	56.0					6																	155451184		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155451184G>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.827G>T	6.37:g.155451184G>T	ENSP00000437188:p.Ser276Ile					TIAM2_uc003qqe.2_Missense_Mutation_p.S276I	p.S276I	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	2100	+		Ovarian(120;0.196)	276					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.827G>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	9.863	1.196882	0.22037	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.05925	3.49;3.37;3.44;3.49;3.51;3.44	4.88	4.01	0.46588	.	0.466822	0.26275	N	0.025301	T	0.03263	0.0095	L	0.57536	1.79	0.80722	D	1	P	0.43169	0.8	B	0.34722	0.188	T	0.35943	-0.9768	10	0.72032	D	0.01	.	11.5239	0.50569	0.0833:0.0:0.9167:0.0	.	276	Q8IVF5	TIAM2_HUMAN	I	276;522;276;276;276;276;276	ENSP00000437188:S276I;ENSP00000434901:S276I;ENSP00000407746:S276I;ENSP00000327315:S276I;ENSP00000353528:S276I;ENSP00000433348:S276I	ENSP00000327315:S276I	S	+	2	0	TIAM2	155492876	0.947000	0.32204	0.235000	0.24058	0.012000	0.07955	3.942000	0.56614	1.184000	0.42957	0.655000	0.94253	AGT		0.602	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2		NM_012454		68	31	1	0	9.4991e-31	0.00361	1.09451e-30	68	31		
CARD11	84433	broad.mit.edu	37	7	2978460	2978460	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:2978460C>T	ENST00000396946.4	-	7	1273	c.870G>A	c.(868-870)ggG>ggA	p.G290G		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	290					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGCTGCGCTTCCCGGCCTGGG	0.632			Mis		DLBCL																																	uc003smv.2		NaN		Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50						c.(868-870)GGG>GGA		caspase recruitment domain family, member 11							51.0	45.0	47.0					7																	2978460		2203	4300	6503	SO:0001819	synonymous_variant	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2978460C>T	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.870G>A	7.37:g.2978460C>T							p.G290G	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	7	1274	-		Ovarian(82;0.0115)	290			Potential.		A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	c.870G>A	CCDS5336.2																																																																																				0.632	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4		NM_032415		7	65	0	0	0	0.00308	0	7	65		
GLI3	2737	broad.mit.edu	37	7	42005113	42005113	+	Silent	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:42005113C>A	ENST00000395925.3	-	15	3642	c.3558G>T	c.(3556-3558)ccG>ccT	p.P1186P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1186					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CGCGAGTCTGCGGCACAGCGG	0.652									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1		NaN																	0				lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(3556-3558)CCG>CCT		GLI-Kruppel family member GLI3							69.0	83.0	78.0					7																	42005113		2203	4300	6503	SO:0001819	synonymous_variant	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005113C>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3558G>T	7.37:g.42005113C>A						GLI3_uc011kbg.1_Silent_p.P1127P	p.P1186P	NM_000168	NP_000159	P10071	GLI3_HUMAN			15	3649	-			1186					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.3558G>T	CCDS5465.1																																																																																				0.652	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3		NM_000168		92	179	1	0	3.61922e-38	0.00361	4.20571e-38	92	179		
GLI3	2737	broad.mit.edu	37	7	42005561	42005561	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:42005561G>A	ENST00000395925.3	-	15	3194	c.3110C>T	c.(3109-3111)aCg>aTg	p.T1037M	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1037					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTCCGCGGACGTGGCCATCGC	0.697									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1		NaN																	0				lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(3109-3111)ACG>ATG		GLI-Kruppel family member GLI3							26.0	29.0	28.0					7																	42005561		2202	4300	6502	SO:0001583	missense	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005561G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3110C>T	7.37:g.42005561G>A	ENSP00000379258:p.Thr1037Met					GLI3_uc011kbg.1_Missense_Mutation_p.T978M	p.T1037M	NM_000168	NP_000159	P10071	GLI3_HUMAN			15	3201	-			1037					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.3110C>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	8.654	0.898886	0.17686	.	.	ENSG00000106571	ENST00000395925	T	0.14022	2.54	5.33	5.33	0.75918	.	0.154450	0.64402	D	0.000015	T	0.10680	0.0261	N	0.14661	0.345	0.80722	D	1	P	0.38473	0.633	B	0.36378	0.223	T	0.15492	-1.0435	10	0.44086	T	0.13	.	19.025	0.92929	0.0:0.0:1.0:0.0	.	1037	P10071	GLI3_HUMAN	M	1037	ENSP00000379258:T1037M	ENSP00000379258:T1037M	T	-	2	0	GLI3	41972086	0.995000	0.38212	0.022000	0.16811	0.002000	0.02628	3.251000	0.51453	2.473000	0.83533	0.563000	0.77884	ACG		0.697	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3		NM_000168		17	60	0	0	0	0.007413	0	17	60		
OGDH	4967	broad.mit.edu	37	7	44736090	44736090	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:44736090G>T	ENST00000222673.5	+	14	1876	c.1834G>T	c.(1834-1836)Gat>Tat	p.D612Y	OGDH_ENST00000543843.1_Missense_Mutation_p.D563Y|OGDH_ENST00000447398.1_Missense_Mutation_p.D623Y|OGDH_ENST00000444676.1_Missense_Mutation_p.D627Y|OGDH_ENST00000449767.1_Missense_Mutation_p.D608Y|OGDH_ENST00000439616.2_Missense_Mutation_p.D462Y	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	612					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TCTGACGGAGGATATTCTGAC	0.527																																						uc003tln.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1834-1836)GAT>TAT		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						127.0	101.0	110.0					7																	44736090		2203	4300	6503	SO:0001583	missense	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44736090G>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.1834G>T	7.37:g.44736090G>T	ENSP00000222673:p.Asp612Tyr					OGDH_uc011kbx.1_Missense_Mutation_p.D608Y|OGDH_uc011kby.1_Missense_Mutation_p.D462Y|OGDH_uc003tlp.2_Missense_Mutation_p.D623Y|OGDH_uc011kbz.1_Missense_Mutation_p.D407Y|OGDH_uc003tlo.1_Missense_Mutation_p.D445Y	p.D612Y	NM_002541	NP_002532	Q02218	ODO1_HUMAN			14	1943	+			612					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.1834G>T	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592221	0.86953	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T	0.06294	3.33;3.32;3.32;3.32;3.32;3.32	4.96	4.96	0.65561	.	0.196373	0.52532	D	0.000066	T	0.21103	0.0508	M	0.80847	2.515	0.80722	D	1	P;D;P;P;P;P	0.55605	0.885;0.972;0.503;0.503;0.547;0.786	P;P;B;P;B;B	0.52710	0.594;0.707;0.443;0.541;0.372;0.443	T	0.01127	-1.1443	10	0.87932	D	0	-15.0138	18.0065	0.89211	0.0:0.0:1.0:0.0	.	407;462;608;623;514;612	B4E3E9;E9PFG7;E9PBM1;E9PDF2;A2VCT2;Q02218	.;.;.;.;.;ODO1_HUMAN	Y	462;608;623;627;612;563	ENSP00000398576:D462Y;ENSP00000392878:D608Y;ENSP00000388183:D623Y;ENSP00000414662:D627Y;ENSP00000222673:D612Y;ENSP00000443821:D563Y	ENSP00000222673:D612Y	D	+	1	0	OGDH	44702615	1.000000	0.71417	0.870000	0.34147	0.986000	0.74619	6.580000	0.74040	2.570000	0.86706	0.655000	0.94253	GAT		0.527	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1				21	102	1	0	1.96292e-10	0.010504	2.1525e-10	21	102		
OGDH	4967	broad.mit.edu	37	7	44737336	44737336	+	Silent	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:44737336G>C	ENST00000222673.5	+	17	2355	c.2313G>C	c.(2311-2313)cgG>cgC	p.R771R	OGDH_ENST00000543843.1_Silent_p.R722R|OGDH_ENST00000447398.1_Silent_p.R782R|OGDH_ENST00000444676.1_Silent_p.R786R|OGDH_ENST00000449767.1_Silent_p.R767R|OGDH_ENST00000439616.2_Silent_p.R621R	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	771					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	AGTGGGTGCGGCAGAATGGCA	0.602																																						uc003tln.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2311-2313)CGG>CGC		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						111.0	97.0	102.0					7																	44737336		2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44737336G>C	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2313G>C	7.37:g.44737336G>C						OGDH_uc011kbx.1_Silent_p.R767R|OGDH_uc011kby.1_Silent_p.R621R|OGDH_uc003tlp.2_Silent_p.R782R|OGDH_uc011kbz.1_Silent_p.R566R	p.R771R	NM_002541	NP_002532	Q02218	ODO1_HUMAN			17	2422	+			771					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.2313G>C	CCDS34627.1																																																																																				0.602	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1				7	148	0	0	0	0.004482	0	7	148		
CACNA2D1	781	broad.mit.edu	37	7	81746455	81746455	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:81746455C>T	ENST00000356253.5	-	6	686	c.431G>A	c.(430-432)aGg>aAg	p.R144K	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.R144K|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.R144K			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	144					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	AGGTTTTATCCTCTGGCTGCC	0.358																																						uc003uhr.1		NaN																	0				ovary(5)|pancreas(1)	6						c.(430-432)AGG>AAG		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						115.0	104.0	108.0					7																	81746455		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81746455C>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.431G>A	7.37:g.81746455C>T	ENSP00000348589:p.Arg144Lys						p.R144K	NM_000722	NP_000713	P54289	CA2D1_HUMAN			6	687	-			144			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.431G>A		.	.	.	.	.	.	.	.	.	.	C	6.684	0.494799	0.12702	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.21031	3.35;3.35;2.03	5.39	4.51	0.55191	.	0.057861	0.64402	N	0.000002	T	0.16599	0.0399	L	0.37561	1.115	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	T	0.04551	-1.0943	10	0.32370	T	0.25	-9.346	10.0856	0.42417	0.0:0.8477:0.0:0.1523	.	144	P54289-2	.	K	144	ENSP00000349320:R144K;ENSP00000348589:R144K;ENSP00000405395:R144K	ENSP00000284088:R144K	R	-	2	0	CACNA2D1	81584391	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.779000	0.38624	1.279000	0.44446	0.555000	0.69702	AGG		0.358	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding					10	46	0	0	0	0.006214	0	10	46		
PCLO	27445	broad.mit.edu	37	7	82595105	82595105	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:82595105T>A	ENST00000333891.9	-	4	4336	c.3999A>T	c.(3997-3999)gaA>gaT	p.E1333D	PCLO_ENST00000423517.2_Missense_Mutation_p.E1333D	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTTCCCAGGTTCCACCTGAT	0.373																																						uc003uhx.2		NaN																	0				ovary(7)	7						c.(3997-3999)GAA>GAT		piccolo isoform 1							209.0	186.0	193.0					7																	82595105		1883	4109	5992	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82595105T>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3999A>T	7.37:g.82595105T>A	ENSP00000334319:p.Glu1333Asp					PCLO_uc003uhv.2_Missense_Mutation_p.E1333D	p.E1333D	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			4	4288	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						Missense_Mutation	SNP	ENST00000333891.9	37	c.3999A>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	12.84	2.058633	0.36277	.	.	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.17213	2.29;2.29	6.03	3.71	0.42584	.	.	.	.	.	T	0.21347	0.0514	M	0.64997	1.995	0.80722	D	1	P;P	0.41848	0.763;0.763	B;B	0.42282	0.382;0.382	T	0.01205	-1.1419	9	0.87932	D	0	.	10.228	0.43238	0.0:0.1143:0.0:0.8857	.	1333;1333	Q9Y6V0-5;Q9Y6V0-6	.;.	D	1333	ENSP00000334319:E1333D;ENSP00000388393:E1333D	ENSP00000334319:E1333D	E	-	3	2	PCLO	82433041	0.100000	0.21855	0.122000	0.21767	0.873000	0.50193	0.393000	0.20817	0.554000	0.29061	0.533000	0.62120	GAA		0.373	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5		NM_014510		32	81	0	0	0	0.004289	0	32	81		
GRM3	2913	broad.mit.edu	37	7	86416022	86416022	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:86416022C>T	ENST00000361669.2	+	3	2013	c.914C>T	c.(913-915)gCg>gTg	p.A305V	GRM3_ENST00000394720.2_Missense_Mutation_p.A303V|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.A177V|GRM3_ENST00000439827.1_Missense_Mutation_p.A305V|AC005009.2_ENST00000418031.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	305					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.A305V(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GGCTGGGGCGCGCAGGAGAGC	0.677																																					GBM(52;969 1098 3139 52280)	uc003uid.2		NaN																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(913-915)GCG>GTG		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						33.0	36.0	35.0					7																	86416022		2203	4299	6502	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86416022C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.914C>T	7.37:g.86416022C>T	ENSP00000355316:p.Ala305Val					GRM3_uc010lef.2_Missense_Mutation_p.A303V|GRM3_uc010leg.2_Missense_Mutation_p.A177V|GRM3_uc010leh.2_Intron	p.A305V	NM_000840	NP_000831	Q14832	GRM3_HUMAN			3	2013	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		305			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.914C>T	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663725	0.88251	.	.	ENSG00000198822	ENST00000361669;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	6.07	6.07	0.98685	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.86707	0.5997	M	0.78456	2.415	0.80722	D	1	D;D;D	0.60160	0.987;0.959;0.97	B;B;P	0.46452	0.382;0.101;0.517	D	0.87012	0.2123	10	0.49607	T	0.09	.	19.6475	0.95784	0.0:1.0:0.0:0.0	.	177;305;305	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	V	305;177;305;303	ENSP00000355316:A305V;ENSP00000441407:A177V;ENSP00000398767:A305V;ENSP00000378209:A303V	ENSP00000355316:A305V	A	+	2	0	GRM3	86253958	1.000000	0.71417	0.992000	0.48379	0.959000	0.62525	7.732000	0.84908	2.885000	0.99019	0.655000	0.94253	GCG		0.677	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2				15	83	0	0	0	0.003163	0	15	83		
GAL3ST4	79690	broad.mit.edu	37	7	99758066	99758066	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:99758066C>T	ENST00000360039.4	-	4	1338	c.946G>A	c.(946-948)Gat>Aat	p.D316N	GAL3ST4_ENST00000426974.2_Missense_Mutation_p.D254N|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.D316N|GAL3ST4_ENST00000423751.1_Silent_p.Q214Q|C7orf43_ENST00000457641.1_5'Flank|GAL3ST4_ENST00000411994.1_Silent_p.Q214Q|C7orf43_ENST00000419841.1_5'Flank|C7orf43_ENST00000316937.3_5'Flank	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	316					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACAGGGCATCTGCCAGCAGA	0.557																																						uc003utt.2		NaN																	0				ovary(3)	3						c.(946-948)GAT>AAT		galactose-3-O-sulfotransferase 4							102.0	98.0	99.0					7																	99758066		2203	4300	6503	SO:0001583	missense	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99758066C>T	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.946G>A	7.37:g.99758066C>T	ENSP00000353142:p.Asp316Asn					C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.D316N|GAL3ST4_uc010lgq.2_Missense_Mutation_p.D254N	p.D316N	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN			3	1963	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		316			Lumenal (Potential).		A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	37	c.946G>A	CCDS5688.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058423	0.36277	.	.	ENSG00000197093	ENST00000413800;ENST00000360039;ENST00000426974	T;T;T	0.15017	2.46;2.46;2.46	4.82	4.82	0.62117	.	0.225057	0.37178	U	0.002220	T	0.12987	0.0315	L	0.27053	0.805	0.33058	D	0.533713	P;B	0.48089	0.905;0.071	B;B	0.39660	0.306;0.103	T	0.10543	-1.0625	10	0.32370	T	0.25	-8.4847	15.4362	0.75149	0.0:1.0:0.0:0.0	.	254;316	B4DWL8;Q96RP7	.;G3ST4_HUMAN	N	316;316;254	ENSP00000400451:D316N;ENSP00000353142:D316N;ENSP00000398304:D254N	ENSP00000353142:D316N	D	-	1	0	GAL3ST4	99596002	0.905000	0.30787	1.000000	0.80357	0.996000	0.88848	2.060000	0.41394	2.518000	0.84900	0.511000	0.50034	GAT		0.557	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2		NM_024637		47	147	0	0	0	0.00361	0	47	147		
TRIP6	7205	broad.mit.edu	37	7	100469281	100469281	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:100469281C>T	ENST00000200457.4	+	7	1476	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	372	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					ACCGCGGCCTCGACGGCATCC	0.622																																						uc003uww.2		NaN																	0				central_nervous_system(2)	2						c.(1114-1116)CTC>CTT		thyroid receptor-interacting protein 6							96.0	70.0	79.0					7																	100469281		2203	4300	6503	SO:0001819	synonymous_variant	7205				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding	g.chr7:100469281C>T	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.1116C>T	7.37:g.100469281C>T							p.L372L	NM_003302	NP_003293	Q15654	TRIP6_HUMAN			7	1286	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		372			LIM zinc-binding 2.		A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Silent	SNP	ENST00000200457.4	37	c.1116C>T	CCDS5708.1	.	.	.	.	.	.	.	.	.	.	C	5.880	0.346448	0.11126	.	.	ENSG00000087077	ENST00000429658	.	.	.	4.6	-9.2	0.00682	.	.	.	.	.	T	0.50171	0.1600	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62751	-0.6788	4	.	.	.	.	11.0652	0.47972	0.0:0.096:0.2681:0.6359	.	.	.	.	L	185	.	.	S	+	2	0	TRIP6	100307217	0.976000	0.34144	0.134000	0.22075	0.643000	0.38383	0.027000	0.13621	-2.807000	0.00349	-0.484000	0.04775	TCG		0.622	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2		NM_003302		35	49	0	0	0	0.00623	0	35	49		
MUC17	140453	broad.mit.edu	37	7	100682960	100682960	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:100682960A>T	ENST00000306151.4	+	3	8327	c.8263A>T	c.(8263-8265)Agt>Tgt	p.S2755C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2755	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCATTAACAAGTATACTTGT	0.493																																						uc003uxp.1		NaN																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(8263-8265)AGT>TGT		mucin 17 precursor							251.0	245.0	247.0					7																	100682960		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682960A>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8263A>T	7.37:g.100682960A>T	ENSP00000302716:p.Ser2755Cys					MUC17_uc010lho.1_RNA	p.S2755C	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	8316	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2755			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|44.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8263A>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	3.599	-0.082049	0.07141	.	.	ENSG00000169876	ENST00000306151	T	0.02345	4.33	0.629	-1.26	0.09376	.	.	.	.	.	T	0.03608	0.0103	N	0.14661	0.345	0.09310	N	1	D	0.63046	0.992	P	0.60117	0.869	T	0.38394	-0.9663	9	0.49607	T	0.09	.	3.2947	0.06961	0.2498:0.2692:0.481:0.0	.	2755	Q685J3	MUC17_HUMAN	C	2755	ENSP00000302716:S2755C	ENSP00000302716:S2755C	S	+	1	0	MUC17	100469680	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-3.407000	0.00481	-1.173000	0.02758	0.113000	0.15668	AGT		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105		22	650	0	0	0	0.012319	0	22	650		
MUC17	140453	broad.mit.edu	37	7	100693838	100693838	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:100693838G>A	ENST00000306151.4	+	7	12860	c.12796G>A	c.(12796-12798)Gac>Aac	p.D4266N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4266	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GACAGTATTGGACAATGCCAC	0.463																																						uc003uxp.1		NaN																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(12796-12798)GAC>AAC		mucin 17 precursor							162.0	141.0	148.0					7																	100693838		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100693838G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12796G>A	7.37:g.100693838G>A	ENSP00000302716:p.Asp4266Asn					MUC17_uc010lho.1_Intron	p.D4266N	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			7	12849	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4266			Extracellular (Potential).|SEA.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.12796G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	7.103	0.574540	0.13623	.	.	ENSG00000169876	ENST00000306151	T	0.38401	1.14	4.52	-9.05	0.00730	SEA (2);	.	.	.	.	T	0.11836	0.0288	N	0.02357	-0.585	0.09310	N	1	B	0.28233	0.204	B	0.28784	0.094	T	0.36962	-0.9726	9	0.28530	T	0.3	.	8.679	0.34196	0.5876:0.2042:0.2082:0.0	.	4266	Q685J3	MUC17_HUMAN	N	4266	ENSP00000302716:D4266N	ENSP00000302716:D4266N	D	+	1	0	MUC17	100480558	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.751000	0.00055	-2.131000	0.00815	-0.812000	0.03155	GAC		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105		27	80	0	0	0	0.004656	0	27	80		
RELN	5649	broad.mit.edu	37	7	103197585	103197585	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:103197585G>C	ENST00000428762.1	-	38	5795	c.5636C>G	c.(5635-5637)tCt>tGt	p.S1879C	RELN_ENST00000424685.2_Missense_Mutation_p.S1879C|RELN_ENST00000343529.5_Missense_Mutation_p.S1879C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1879					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TAACAGAATAGAGTGAGATCT	0.378																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NaN																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(5635-5637)TCT>TGT		reelin isoform a							98.0	92.0	94.0					7																	103197585		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103197585G>C		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5636C>G	7.37:g.103197585G>C	ENSP00000392423:p.Ser1879Cys					RELN_uc010liz.2_Missense_Mutation_p.S1879C	p.S1879C	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	38	5796	-			1879					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.5636C>G	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224529	0.79576	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.24723	1.84;1.84;1.84	5.77	4.88	0.63580	Neuraminidase (1);	0.117739	0.64402	N	0.000011	T	0.46502	0.1396	L	0.56769	1.78	0.52501	D	0.999959	D;P	0.61080	0.989;0.913	D;P	0.63381	0.914;0.625	T	0.49322	-0.8952	10	0.72032	D	0.01	.	17.0803	0.86597	0.0:0.1269:0.8731:0.0	.	1879;1879	P78509-2;P78509	.;RELN_HUMAN	C	1879	ENSP00000392423:S1879C;ENSP00000345694:S1879C;ENSP00000388446:S1879C	ENSP00000345694:S1879C	S	-	2	0	RELN	102984821	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.556000	0.82233	1.537000	0.49254	0.655000	0.94253	TCT		0.378	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1		NM_005045		6	53	0	0	0	0.001168	0	6	53		
ZC3HAV1	56829	broad.mit.edu	37	7	138764694	138764694	+	Silent	SNP	T	T	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:138764694T>C	ENST00000242351.5	-	4	1309	c.993A>G	c.(991-993)ttA>ttG	p.L331L	ZC3HAV1_ENST00000464606.1_Silent_p.L331L|ZC3HAV1_ENST00000471652.1_Silent_p.L331L	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	331					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TGCCGTTCTCTAAAAACCTCT	0.552																																						uc003vun.2		NaN																	0				ovary(1)	1						c.(991-993)TTA>TTG		zinc finger antiviral protein isoform 1							68.0	67.0	67.0					7																	138764694		2203	4300	6503	SO:0001819	synonymous_variant	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138764694T>C	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.993A>G	7.37:g.138764694T>C						ZC3HAV1_uc003vuo.2_5'Flank|ZC3HAV1_uc003vup.2_Silent_p.L331L	p.L331L	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN			4	1381	-			331					A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP	ENST00000242351.5	37	c.993A>G	CCDS5851.1																																																																																				0.552	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1		NM_020119		63	70	0	0	0	0.00361	0	63	70		
TAS2R39	259285	broad.mit.edu	37	7	142880649	142880649	+	Silent	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:142880649C>A	ENST00000446620.1	+	1	138	c.138C>A	c.(136-138)ctC>ctA	p.L46L		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	46					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					CTGAATACCTCATTGGTATCA	0.413																																						uc011ksw.1		NaN																	0				skin(1)	1						c.(136-138)CTC>CTA		taste receptor, type 2, member 39							145.0	133.0	137.0					7																	142880649		1933	4140	6073	SO:0001819	synonymous_variant	259285				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:142880649C>A	AF494230	CCDS47729.1	7q34	2012-08-22			ENSG00000236398	ENSG00000236398		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18886	protein-coding gene	gene with protein product						12379855	Standard	NM_176881		Approved		uc011ksw.2	P59534	OTTHUMG00000152636	ENST00000446620.1:c.138C>A	7.37:g.142880649C>A							p.L46L	NM_176881	NP_795362	P59534	T2R39_HUMAN			1	138	+	Melanoma(164;0.059)		46			Helical; Name=1; (Potential).		A4FUI7|Q3ZCN6|Q645W4	Silent	SNP	ENST00000446620.1	37	c.138C>A	CCDS47729.1																																																																																				0.413	TAS2R39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327090.2		NM_176881		7	53	1	0	0.00307968	0.00308	0.00315493	7	53		
MFHAS1	9258	broad.mit.edu	37	8	8748771	8748771	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:8748771C>G	ENST00000276282.6	-	1	2384	c.1798G>C	c.(1798-1800)Gac>Cac	p.D600H		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	600	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.									endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		AGGTTCTTGTCCGAAACGCCA	0.642																																					Melanoma(103;1201 2045 17515 28966)	uc003wsj.1		NaN																	0					0						c.(1798-1800)GAC>CAC		malignant fibrous histiocytoma amplified							66.0	58.0	60.0					8																	8748771		2203	4300	6503	SO:0001583	missense	9258							g.chr8:8748771C>G	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.1798G>C	8.37:g.8748771C>G	ENSP00000276282:p.Asp600His						p.D600H	NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	2361	-		Hepatocellular(245;0.217)	600			Roc.		Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	c.1798G>C	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754375	0.69648	.	.	ENSG00000147324	ENST00000276282	T	0.36699	1.24	5.28	5.28	0.74379	ROC GTPase (1);	0.000000	0.85682	D	0.000000	T	0.52565	0.1742	L	0.54323	1.7	0.58432	D	0.999997	D	0.71674	0.998	P	0.60173	0.87	T	0.44772	-0.9306	10	0.41790	T	0.15	.	18.0901	0.89472	0.0:1.0:0.0:0.0	.	600	Q9Y4C4	MFHA1_HUMAN	H	600	ENSP00000276282:D600H	ENSP00000276282:D600H	D	-	1	0	MFHAS1	8786181	1.000000	0.71417	0.959000	0.39883	0.955000	0.61496	7.625000	0.83145	2.736000	0.93811	0.655000	0.94253	GAC		0.642	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2		NM_004225		7	104	0	0	0	0.001984	0	7	104		
DLC1	10395	broad.mit.edu	37	8	12957634	12957634	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:12957634T>A	ENST00000276297.4	-	9	2621	c.2212A>T	c.(2212-2214)Acg>Tcg	p.T738S	DLC1_ENST00000358919.2_Missense_Mutation_p.T301S|DLC1_ENST00000512044.2_Missense_Mutation_p.T335S|DLC1_ENST00000520226.1_Missense_Mutation_p.T227S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	738	Focal adhesion-targeting (FAT).				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CTGGTCTGCGTGGAGTTGGAA	0.617																																						uc003wwm.2		NaN																	0				ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(2212-2214)ACG>TCG		deleted in liver cancer 1 isoform 1							66.0	54.0	59.0					8																	12957634		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957634T>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2212A>T	8.37:g.12957634T>A	ENSP00000276297:p.Thr738Ser					DLC1_uc003wwk.1_Missense_Mutation_p.T301S|DLC1_uc003wwl.1_Missense_Mutation_p.T335S|DLC1_uc011kxx.1_Missense_Mutation_p.T227S	p.T738S	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			9	2656	-			738					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2212A>T	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.583752	0.46006	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.05580	3.66;3.43;3.43;3.42	4.57	4.57	0.56435	.	0.166946	0.52532	N	0.000061	T	0.14657	0.0354	L	0.37897	1.145	0.80722	D	1	B;B;D	0.71674	0.397;0.112;0.998	B;B;D	0.80764	0.178;0.05;0.994	T	0.16897	-1.0387	10	0.19590	T	0.45	.	14.4114	0.67117	0.0:0.0:0.0:1.0	.	738;335;301	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	S	738;301;335;227	ENSP00000276297:T738S;ENSP00000351797:T301S;ENSP00000422595:T335S;ENSP00000428028:T227S	ENSP00000276297:T738S	T	-	1	0	DLC1	13002005	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.038000	0.70964	2.044000	0.60594	0.459000	0.35465	ACG		0.617	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2		NM_182643, NM_006094		25	81	0	0	0	0.003954	0	25	81		
DLC1	10395	broad.mit.edu	37	8	12958064	12958064	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:12958064G>A	ENST00000276297.4	-	9	2191	c.1782C>T	c.(1780-1782)gtC>gtT	p.V594V	DLC1_ENST00000358919.2_Silent_p.V157V|DLC1_ENST00000512044.2_Silent_p.V191V|DLC1_ENST00000520226.1_Silent_p.V83V	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	594					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGAGGCTGCGGACGGAAGACA	0.697																																						uc003wwm.2		NaN																	0				ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(1780-1782)GTC>GTT		deleted in liver cancer 1 isoform 1							36.0	42.0	40.0					8																	12958064		2203	4298	6501	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12958064G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1782C>T	8.37:g.12958064G>A						DLC1_uc003wwk.1_Silent_p.V157V|DLC1_uc003wwl.1_Silent_p.V191V|DLC1_uc011kxx.1_Silent_p.V83V	p.V594V	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			9	2226	-			594					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.1782C>T	CCDS5989.1																																																																																				0.697	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2		NM_182643, NM_006094		17	118	0	0	0	0.00499	0	17	118		
MTUS1	57509	broad.mit.edu	37	8	17611869	17611869	+	Missense_Mutation	SNP	G	G	C	rs529189044	byFrequency	TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:17611869G>C	ENST00000262102.6	-	2	1672	c.1448C>G	c.(1447-1449)aCa>aGa	p.T483R	MTUS1_ENST00000519263.1_Missense_Mutation_p.T483R|MTUS1_ENST00000381869.3_Missense_Mutation_p.T483R|MTUS1_ENST00000381862.3_Missense_Mutation_p.T483R	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	483					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CGTTTTGATTGTTGATTTTCC	0.378																																						uc003wxv.2		NaN																	0				ovary(1)|skin(1)	2						c.(1447-1449)ACA>AGA		mitochondrial tumor suppressor 1 isoform 1							165.0	156.0	159.0					8																	17611869		1853	4098	5951	SO:0001583	missense	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17611869G>C	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.1448C>G	8.37:g.17611869G>C	ENSP00000262102:p.Thr483Arg					MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.T483R|MTUS1_uc010lsz.2_Missense_Mutation_p.T483R	p.T483R	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	1922	-			483					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	c.1448C>G	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	G	9.033	0.987829	0.18966	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.22743	2.89;2.95;2.89;1.94	5.0	3.17	0.36434	.	0.908051	0.09318	N	0.818698	T	0.20251	0.0487	L	0.27053	0.805	0.09310	N	1	P;B;B	0.41188	0.741;0.441;0.441	P;P;B	0.45343	0.477;0.473;0.421	T	0.19484	-1.0304	10	0.72032	D	0.01	2.2171	7.8254	0.29311	0.1517:0.1369:0.7114:0.0	.	483;483;483	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	R	483	ENSP00000371293:T483R;ENSP00000262102:T483R;ENSP00000430167:T483R;ENSP00000371286:T483R	ENSP00000262102:T483R	T	-	2	0	MTUS1	17656149	0.029000	0.19370	0.001000	0.08648	0.487000	0.33371	2.210000	0.42816	0.799000	0.34018	0.655000	0.94253	ACA		0.378	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1		XM_372031		75	143	0	0	0	0.00361	0	75	143		
UNC5D	137970	broad.mit.edu	37	8	35579728	35579728	+	Splice_Site	SNP	G	G	T	rs369902518		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:35579728G>T	ENST00000404895.2	+	9	1446	c.1118G>T	c.(1117-1119)aGc>aTc	p.S373I	UNC5D_ENST00000420357.1_Splice_Site_p.G306V|UNC5D_ENST00000287272.2_Splice_Site_p.S317I|UNC5D_ENST00000453357.2_Splice_Site_p.S368I|UNC5D_ENST00000449677.1_5'Flank|UNC5D_ENST00000416672.1_Splice_Site_p.G378V	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	373					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGTCTTTCAGGCATTGAGAAT	0.493																																						uc003xjr.1		NaN																	0				upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(1117-1119)AGC>ATC		unc-5 homolog D precursor							196.0	175.0	182.0					8																	35579728		2203	4300	6503	SO:0001630	splice_region_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35579728G>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1118-1G>T	8.37:g.35579728G>T						UNC5D_uc003xjs.1_Missense_Mutation_p.S368I|UNC5D_uc003xju.1_5'Flank|UNC5D_uc003xjt.1_Missense_Mutation_p.G131V	p.S373I	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	9	1446	+			373			Extracellular (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1118G>T	CCDS6093.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.54|13.54	2.266414|2.266414	0.40095|0.40095	.|.	.|.	ENSG00000156687|ENSG00000156687	ENST00000420357;ENST00000416672|ENST00000404895;ENST00000287272;ENST00000453357	T;T|T;T;T	0.53640|0.55760	0.94;0.61|0.53;0.99;0.5	5.71|5.71	4.83|4.83	0.62350|0.62350	.|.	.|0.152629	.|0.56097	.|D	.|0.000034	T|T	0.36663|0.36663	0.0975|0.0975	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	B|B;B	0.23735|0.23735	0.09|0.078;0.09	B|B;B	0.19148|0.26864	0.024|0.074;0.063	T|T	0.15009|0.15009	-1.0452|-1.0452	8|9	.|.	.|.	.|.	.|.	9.0838|9.0838	0.36567|0.36567	0.167:0.0:0.833:0.0|0.167:0.0:0.833:0.0	.|.	378|368;373	C9J2B6|Q6UXZ4-2;Q6UXZ4	.|.;UNC5D_HUMAN	V|I	306;378|373;317;368	ENSP00000392739:G306V;ENSP00000412652:G378V|ENSP00000385143:S373I;ENSP00000287272:S317I;ENSP00000394303:S368I	.|.	G|S	+|+	2|2	0|0	UNC5D|UNC5D	35699270|35699270	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.829000|0.829000	0.46940|0.46940	4.044000|4.044000	0.57361|0.57361	2.694000|2.694000	0.91930|0.91930	0.650000|0.650000	0.86243|0.86243	GGC|AGC		0.493	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			Missense_Mutation	8	182	1	0	1.06961e-07	0.00308	1.12754e-07	8	182		
RAB11FIP1	80223	broad.mit.edu	37	8	37730513	37730513	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:37730513C>T	ENST00000330843.4	-	4	1819	c.1807G>A	c.(1807-1809)Gca>Aca	p.A603T	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	603	Ser-rich.				protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			ATGGGAGCTGCTATGGGAGAT	0.547																																						uc003xkm.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1807-1809)GCA>ACA		RAB11 family interacting protein 1 isoform 3							83.0	78.0	79.0					8																	37730513		2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37730513C>T	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1807G>A	8.37:g.37730513C>T	ENSP00000331342:p.Ala603Thr					RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron	p.A603T	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	1851	-		Lung NSC(58;0.118)|all_lung(54;0.195)	603			Ser-rich.		J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.1807G>A	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.234154	0.22626	.	.	ENSG00000156675	ENST00000330843	T	0.14266	2.52	5.27	2.3	0.28687	.	0.947833	0.08782	N	0.894488	T	0.06781	0.0173	N	0.19112	0.55	0.09310	N	1	B	0.29988	0.264	B	0.23150	0.044	T	0.39742	-0.9599	10	0.12766	T	0.61	-3.3444	3.6327	0.08138	0.0:0.5294:0.1967:0.2739	.	603	Q6WKZ4	RFIP1_HUMAN	T	603	ENSP00000331342:A603T	ENSP00000331342:A603T	A	-	1	0	RAB11FIP1	37849671	0.004000	0.15560	0.001000	0.08648	0.775000	0.43874	0.826000	0.27407	0.792000	0.33850	0.655000	0.94253	GCA		0.547	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1		NM_025151		34	111	0	0	0	0.002836	0	34	111		
RGS22	26166	broad.mit.edu	37	8	101075735	101075735	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:101075735A>G	ENST00000360863.6	-	8	1455	c.1261T>C	c.(1261-1263)Ttt>Ctt	p.F421L	RGS22_ENST00000523437.1_Missense_Mutation_p.F409L|RGS22_ENST00000523287.1_Missense_Mutation_p.F240L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	421					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CCTTTTATAAATTTCTTAAAT	0.388																																						uc003yjb.1		NaN																	0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(1261-1263)TTT>CTT		regulator of G-protein signaling 22							126.0	117.0	120.0					8																	101075735		1821	4085	5906	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101075735A>G	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.1261T>C	8.37:g.101075735A>G	ENSP00000354109:p.Phe421Leu					RGS22_uc003yja.1_Missense_Mutation_p.F240L|RGS22_uc003yjc.1_Missense_Mutation_p.F409L|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	p.F421L	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		8	1456	-			421					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.1261T>C	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.851528	0.91355	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.78003	-1.14;-1.14;-1.14	5.46	5.46	0.80206	Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	D	0.87305	0.6144	M	0.72894	2.215	0.36904	D	0.890555	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.994;0.994;0.997	D	0.90759	0.4663	10	0.87932	D	0	.	15.8388	0.78824	1.0:0.0:0.0:0.0	.	409;421;240	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	L	421;409;240;409	ENSP00000354109:F421L;ENSP00000429382:F240L;ENSP00000428212:F409L	ENSP00000354109:F421L	F	-	1	0	RGS22	101144911	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.089000	0.76909	2.199000	0.70637	0.528000	0.53228	TTT		0.388	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1		NM_015668		15	68	0	0	0	0.006122	0	15	68		
PKHD1L1	93035	broad.mit.edu	37	8	110489537	110489537	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:110489537C>T	ENST00000378402.5	+	53	9105	c.9001C>T	c.(9001-9003)Caa>Taa	p.Q3001*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3001					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TATTAATTTCCAAGCTTACTG	0.418										HNSCC(38;0.096)																												uc003yne.2		NaN																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(9001-9003)CAA>TAA		fibrocystin L precursor							167.0	155.0	159.0					8																	110489537		1891	4116	6007	SO:0001587	stop_gained	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110489537C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9001C>T	8.37:g.110489537C>T	ENSP00000367655:p.Gln3001*	HNSCC(38;0.096)					p.Q3001*	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		53	9105	+			3001			Extracellular (Potential).		Q567P2|Q9UF27	Nonsense_Mutation	SNP	ENST00000378402.5	37	c.9001C>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	50	16.780694	0.99872	.	.	ENSG00000205038	ENST00000378402	.	.	.	5.88	4.95	0.65309	.	0.305675	0.32175	N	0.006480	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	9.1375	0.36883	0.1635:0.6787:0.1578:0.0	.	.	.	.	X	3001	.	ENSP00000367655:Q3001X	Q	+	1	0	PKHD1L1	110558713	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	1.090000	0.30902	2.787000	0.95880	0.585000	0.79938	CAA		0.418	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		NM_177531		34	45	0	0	0	0.012213	0	34	45		
GSDMD	79792	broad.mit.edu	37	8	144643221	144643221	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:144643221C>T	ENST00000526406.1	+	8	1512	c.629C>T	c.(628-630)tCa>tTa	p.S210L	GSDMD_ENST00000262580.4_Missense_Mutation_p.S210L|GSDMD_ENST00000533063.1_Missense_Mutation_p.S258L	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	210					cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						ACCATCCCCTCAGGCAGCACC	0.667																																						uc010mfe.2		NaN																	0					0						c.(628-630)TCA>TTA		gasdermin D							70.0	58.0	62.0					8																	144643221		2203	4300	6503	SO:0001583	missense	79792							g.chr8:144643221C>T	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"""gasdermin domain containing 1"""	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.629C>T	8.37:g.144643221C>T	ENSP00000433209:p.Ser210Leu					uc003yye.2_5'Flank|GSDMD_uc003yyf.2_Missense_Mutation_p.S258L|GSDMD_uc003yyi.2_3'UTR|GSDMD_uc003yyg.2_Missense_Mutation_p.S210L|GSDMD_uc003yyh.2_Missense_Mutation_p.S141L	p.S210L	NM_024736	NP_079012	P57764	GSDMD_HUMAN			8	1332	+			210					D3DWJ9|Q96Q98	Missense_Mutation	SNP	ENST00000526406.1	37	c.629C>T	CCDS34956.1	.	.	.	.	.	.	.	.	.	.	C	7.087	0.571399	0.13623	.	.	ENSG00000104518	ENST00000526406;ENST00000533063;ENST00000262580;ENST00000534018	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	4.57	1.48	0.22813	.	1.529060	0.03901	N	0.280391	T	0.33147	0.0853	M	0.68317	2.08	0.09310	N	1	P;P;P	0.46512	0.818;0.818;0.879	B;B;P	0.45167	0.378;0.378;0.472	T	0.22626	-1.0211	10	0.39692	T	0.17	-3.5022	6.8315	0.23913	0.3589:0.4667:0.1743:0.0	.	210;210;258	A8K702;P57764;G3V1A6	.;GSDMD_HUMAN;.	L	210;258;210;226	ENSP00000433209:S210L;ENSP00000433958:S258L;ENSP00000262580:S210L;ENSP00000436684:S226L	ENSP00000262580:S210L	S	+	2	0	GSDMD	144714364	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.040000	0.12104	0.617000	0.30160	0.643000	0.83706	TCA		0.667	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3		NM_024736		6	50	0	0	0	0.001168	0	6	50		
TTC39B	158219	broad.mit.edu	37	9	15187022	15187022	+	Silent	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:15187022C>T	ENST00000512701.2	-	15	1443	c.1407G>A	c.(1405-1407)gtG>gtA	p.V469V	TTC39B_ENST00000297615.5_Silent_p.V400V|TTC39B_ENST00000507993.1_Silent_p.V304V|TTC39B_ENST00000507285.1_Silent_p.V304V|TTC39B_ENST00000355694.2_Silent_p.V403V|TTC39B_ENST00000380850.4_Silent_p.V456V			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	469										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CTTTCAAGAACACATAAGTTG	0.383																																						uc003zlr.1		NaN																	0				ovary(1)	1						c.(1207-1209)GTG>GTA		tetratricopeptide repeat domain 39B							188.0	177.0	181.0					9																	15187022		2203	4300	6503	SO:0001819	synonymous_variant	158219						binding	g.chr9:15187022C>T	AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"""Tetratricopeptide (TTC) repeat domain containing"""	23704	protein-coding gene	gene with protein product		613574	"""chromosome 9 open reading frame 52"""	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.1407G>A	9.37:g.15187022C>T						TTC39B_uc003zlq.1_Silent_p.V372V|TTC39B_uc011lmp.1_Silent_p.V304V|TTC39B_uc010mie.1_Silent_p.V401V|TTC39B_uc011lmq.1_Silent_p.V390V|TTC39B_uc011lmr.1_Silent_p.V334V|TTC39B_uc010mif.1_Silent_p.V403V|TTC39B_uc003zlp.1_5'UTR	p.V403V	NM_152574	NP_689787	Q5VTQ0	TT39B_HUMAN			15	1330	-			403					A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Silent	SNP	ENST00000512701.2	37	c.1209G>A	CCDS6477.2																																																																																				0.383	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3		NM_152574		39	39	0	0	0	0.007835	0	39	39		
DMRTA1	63951	broad.mit.edu	37	9	22451128	22451128	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:22451128C>T	ENST00000325870.2	+	2	958	c.733C>T	c.(733-735)Cag>Tag	p.Q245*		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	245					male mating behavior (GO:0060179)|ovarian follicle development (GO:0001541)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q245K(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		CAAATCCCATCAGCTTTACCT	0.398																																						uc003zpp.1		NaN																	1	Substitution - Missense(1)		prostate(1)	large_intestine(1)|skin(1)	2						c.(733-735)CAG>TAG		DMRT-like family A1							92.0	90.0	91.0					9																	22451128		2203	4300	6503	SO:0001587	stop_gained	63951				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:22451128C>T	AJ290954	CCDS6514.1	9p21.3	2008-05-15			ENSG00000176399	ENSG00000176399			13826	protein-coding gene	gene with protein product		614803					Standard	NM_022160		Approved		uc003zpp.1	Q5VZB9	OTTHUMG00000019693	ENST00000325870.2:c.733C>T	9.37:g.22451128C>T	ENSP00000319651:p.Gln245*						p.Q245*	NM_022160	NP_071443	Q5VZB9	DMRTA_HUMAN		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)	2	958	+		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)	245					A1L481|Q8N8Y9|Q9H4B9	Nonsense_Mutation	SNP	ENST00000325870.2	37	c.733C>T	CCDS6514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.860911	0.97036	.	.	ENSG00000176399	ENST00000325870	.	.	.	5.87	5.87	0.94306	.	1.004860	0.07992	N	0.987338	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	0.1663	18.0718	0.89410	0.0:1.0:0.0:0.0	.	.	.	.	X	245	.	ENSP00000319651:Q245X	Q	+	1	0	DMRTA1	22441128	0.109000	0.22037	0.663000	0.29738	0.467000	0.32768	1.870000	0.39529	2.941000	0.99782	0.655000	0.94253	CAG		0.398	DMRTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051935.2				15	17	0	0	0	0.003163	0	15	17		
STOML2	30968	broad.mit.edu	37	9	35102793	35102793	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:35102793G>C	ENST00000356493.5	-	2	135	c.73C>G	c.(73-75)Ccg>Gcg	p.P25A	STOML2_ENST00000452248.2_Missense_Mutation_p.P25A|STOML2_ENST00000487490.1_5'Flank	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	25					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)	p.P25A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCGCGGCGCGGAGCGCGGCCA	0.647																																						uc003zwi.2		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(73-75)CCG>GCG		stomatin (EPB72)-like 2							29.0	39.0	36.0					9																	35102793		2203	4299	6502	SO:0001583	missense	30968					cytoskeleton	receptor binding	g.chr9:35102793G>C	AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.73C>G	9.37:g.35102793G>C	ENSP00000348886:p.Pro25Ala					STOML2_uc003zwh.2_5'UTR|STOML2_uc003zwj.2_5'UTR|STOML2_uc011lou.1_Missense_Mutation_p.P25A|STOML2_uc003zwk.2_5'UTR	p.P25A	NM_013442	NP_038470	Q9UJZ1	STML2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		2	136	-			25					B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	ENST00000356493.5	37	c.73C>G	CCDS6577.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354523	0.41700	.	.	ENSG00000165283	ENST00000356493;ENST00000452248	D;D	0.97941	-3.37;-4.62	5.41	3.58	0.41010	.	0.055097	0.64402	D	0.000001	D	0.92011	0.7469	N	0.08118	0	0.39556	D	0.969058	B;P	0.46987	0.018;0.888	B;B	0.41374	0.016;0.355	D	0.90092	0.4178	9	.	.	.	-12.2292	11.117	0.48266	0.07:0.1287:0.8013:0.0	.	25;25	B4E1K7;Q9UJZ1	.;STML2_HUMAN	A	25	ENSP00000348886:P25A;ENSP00000395743:P25A	.	P	-	1	0	STOML2	35092793	1.000000	0.71417	0.851000	0.33527	0.508000	0.34012	2.436000	0.44819	0.856000	0.35383	0.561000	0.74099	CCG		0.647	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1		NM_013442		34	77	0	0	0	0.003271	0	34	77		
EPB41L4B	54566	broad.mit.edu	37	9	111970252	111970252	+	Silent	SNP	A	A	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:111970252A>G	ENST00000374566.3	-	18	2347	c.1830T>C	c.(1828-1830)tgT>tgC	p.C610C		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	610					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGAATGTTACACTTCACAT	0.428																																						uc004bdz.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1828-1830)TGT>TGC		erythrocyte membrane protein band 4.1 like 4B							135.0	124.0	127.0					9																	111970252		1865	4119	5984	SO:0001819	synonymous_variant	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:111970252A>G	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1830T>C	9.37:g.111970252A>G							p.C610C	NM_019114	NP_061987	Q9H329	E41LB_HUMAN			18	2125	-			610					Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Silent	SNP	ENST00000374566.3	37	c.1830T>C	CCDS43859.1																																																																																				0.428	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1		NM_018424		19	119	0	0	0	0.008871	0	19	119		
HSDL2	84263	broad.mit.edu	37	9	115216316	115216316	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:115216316G>C	ENST00000398805.3	+	9	1116	c.889G>C	c.(889-891)Gag>Cag	p.E297Q	HSDL2_ENST00000539114.1_Missense_Mutation_p.E92Q|HSDL2_ENST00000262542.7_Missense_Mutation_p.E177Q|HSDL2_ENST00000398803.1_Missense_Mutation_p.E224Q|HSDL2_ENST00000488101.1_3'UTR	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	297						membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						ATTCAAAGAAGAGAAACTGCA	0.403																																						uc004bga.1		NaN																	0					0						c.(889-891)GAG>CAG		hydroxysteroid dehydrogenase like 2							97.0	88.0	91.0					9																	115216316		1860	4103	5963	SO:0001583	missense	84263					peroxisome	oxidoreductase activity|sterol binding	g.chr9:115216316G>C	AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18572	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 13C, member 1"""		"""chromosome 9 open reading frame 99"""	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.889G>C	9.37:g.115216316G>C	ENSP00000381785:p.Glu297Gln					HSDL2_uc011lwv.1_Missense_Mutation_p.E176Q|HSDL2_uc004bgb.1_Missense_Mutation_p.E131Q|HSDL2_uc004bgc.1_Missense_Mutation_p.E224Q|HSDL2_uc011lww.1_Missense_Mutation_p.E92Q	p.E297Q	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN			9	982	+			297					A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Missense_Mutation	SNP	ENST00000398805.3	37	c.889G>C	CCDS43864.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263614	0.23136	.	.	ENSG00000119471	ENST00000398805;ENST00000398803;ENST00000262542;ENST00000539114	D;T;T;T	0.83075	-1.68;1.87;1.92;1.9	5.94	3.93	0.45458	NAD(P)-binding domain (1);	0.391089	0.30227	N	0.010109	T	0.73791	0.3632	L	0.46157	1.445	0.09310	N	1	B;B;B	0.27498	0.16;0.18;0.009	B;B;B	0.26969	0.075;0.055;0.003	T	0.57711	-0.7764	10	0.16420	T	0.52	.	8.6304	0.33915	0.0846:0.0:0.7558:0.1597	.	224;224;297	Q6YN16-2;B2R923;Q6YN16	.;.;HSDL2_HUMAN	Q	297;224;177;92	ENSP00000381785:E297Q;ENSP00000381783:E224Q;ENSP00000262542:E177Q;ENSP00000442278:E92Q	ENSP00000262542:E177Q	E	+	1	0	HSDL2	114256137	1.000000	0.71417	0.946000	0.38457	0.395000	0.30598	2.381000	0.44336	1.527000	0.49086	0.484000	0.47621	GAG		0.403	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053681.1		NM_032303		9	49	0	0	0	0.006214	0	9	49		
CRB2	286204	broad.mit.edu	37	9	126128573	126128573	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:126128573G>A	ENST00000373631.3	+	4	683	c.682G>A	c.(682-684)Gca>Aca	p.A228T	CRB2_ENST00000373629.2_5'Flank|CRB2_ENST00000359999.3_Missense_Mutation_p.A228T	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	228	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GCTGGAGTGCGCATCGGCGCC	0.741																																						uc004bnx.1		NaN																	0				ovary(1)	1						c.(682-684)GCA>ACA		crumbs homolog 2 precursor							10.0	13.0	12.0					9																	126128573		2174	4269	6443	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126128573G>A	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.682G>A	9.37:g.126128573G>A	ENSP00000362734:p.Ala228Thr					CRB2_uc004bnw.1_Missense_Mutation_p.A228T	p.A228T	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN			4	774	+			228			Extracellular (Potential).|EGF-like 5.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.682G>A	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433286	0.83776	.	.	ENSG00000148204	ENST00000359999;ENST00000373631	D;D	0.91686	-2.27;-2.89	5.03	4.07	0.47477	EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.324802	0.22534	N	0.058810	D	0.92854	0.7727	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.73380	0.98;0.748	D	0.92093	0.5682	10	0.39692	T	0.17	.	14.6109	0.68514	0.0:0.1607:0.8393:0.0	.	228;228	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	T	228	ENSP00000353092:A228T;ENSP00000362734:A228T	ENSP00000353092:A228T	A	+	1	0	CRB2	125168394	0.979000	0.34478	1.000000	0.80357	0.569000	0.35902	2.231000	0.43009	2.332000	0.79248	0.448000	0.29417	GCA		0.741	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3		NM_173689		5	3	0	0	0	0.001168	0	5	3		
SPTAN1	6709	broad.mit.edu	37	9	131356499	131356499	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:131356499G>A	ENST00000372731.4	+	24	3371	c.3261G>A	c.(3259-3261)ttG>ttA	p.L1087L	SPTAN1_ENST00000475367.1_3'UTR|SPTAN1_ENST00000358161.5_Silent_p.L1087L|SPTAN1_ENST00000372739.3_Silent_p.L1087L	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1087					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AAGGCATGTTGGAGAAGAGTT	0.468																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(3259-3261)TTG>TTA		spectrin, alpha, non-erythrocytic 1							154.0	144.0	147.0					9																	131356499		2203	4300	6503	SO:0001819	synonymous_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131356499G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.3261G>A	9.37:g.131356499G>A						SPTAN1_uc011mbg.1_Silent_p.L1067L|SPTAN1_uc011mbh.1_Silent_p.L1099L|SPTAN1_uc004bvm.3_Silent_p.L1087L|SPTAN1_uc004bvn.3_Silent_p.L1067L	p.L1087L	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			24	3374	+			1087			Spectrin 11.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	c.3261G>A	CCDS6905.1																																																																																				0.468	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		43	36	0	0	0	0.010771	0	43	36		
SPTAN1	6709	broad.mit.edu	37	9	131356542	131356542	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:131356542G>T	ENST00000372731.4	+	24	3414	c.3304G>T	c.(3304-3306)Gaa>Taa	p.E1102*	SPTAN1_ENST00000475367.1_3'UTR|SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.E1102*|SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.E1102*	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1102					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGAAGCGAATGAACTACAGCA	0.468																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(3304-3306)GAA>TAA		spectrin, alpha, non-erythrocytic 1							143.0	138.0	140.0					9																	131356542		2203	4300	6503	SO:0001587	stop_gained	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131356542G>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.3304G>T	9.37:g.131356542G>T	ENSP00000361816:p.Glu1102*					SPTAN1_uc011mbg.1_Nonsense_Mutation_p.E1082*|SPTAN1_uc011mbh.1_Nonsense_Mutation_p.E1114*|SPTAN1_uc004bvm.3_Nonsense_Mutation_p.E1102*|SPTAN1_uc004bvn.3_Nonsense_Mutation_p.E1082*	p.E1102*	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			24	3417	+			1102			Spectrin 12.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Nonsense_Mutation	SNP	ENST00000372731.4	37	c.3304G>T	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	g	42	9.479184	0.99183	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	19.2718	0.94013	0.0:0.0:1.0:0.0	.	.	.	.	X	1102;1102;1102;1082	.	ENSP00000350882:E1102X	E	+	1	0	SPTAN1	130396363	1.000000	0.71417	0.249000	0.24280	0.554000	0.35429	9.213000	0.95133	2.789000	0.95967	0.651000	0.88453	GAA		0.468	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		48	38	1	0	1.19451e-25	0.00361	1.3648e-25	48	38		
SPTAN1	6709	broad.mit.edu	37	9	131362362	131362362	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:131362362G>A	ENST00000372731.4	+	27	3657	c.3547G>A	c.(3547-3549)Gaa>Aaa	p.E1183K	SPTAN1_ENST00000358161.5_Missense_Mutation_p.E1183K|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1183K	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1183					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGAATAGGATGAAACTGATTC	0.438																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(3547-3549)GAA>AAA		spectrin, alpha, non-erythrocytic 1							124.0	114.0	117.0					9																	131362362		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131362362G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.3547G>A	9.37:g.131362362G>A	ENSP00000361816:p.Glu1183Lys					SPTAN1_uc011mbh.1_Missense_Mutation_p.E1195K|SPTAN1_uc004bvm.3_Missense_Mutation_p.E1183K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1163K	p.E1183K	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			27	3660	+			1183					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.3547G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157908	0.78114	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.49139	0.79;0.8;0.79	6.08	6.08	0.98989	.	0.142496	0.64402	D	0.000006	T	0.39462	0.1079	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.26635	0.155;0.081;0.081;0.048	B;B;B;B	0.23419	0.023;0.046;0.046;0.021	T	0.21280	-1.0250	10	0.66056	D	0.02	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	1183;1163;1183;1183	A6NG51;Q13813-3;Q13813-2;Q13813	.;.;.;SPTA2_HUMAN	K	1183;1183;1183;1163	ENSP00000350882:E1183K;ENSP00000361816:E1183K;ENSP00000361824:E1183K	ENSP00000350882:E1183K	E	+	1	0	SPTAN1	130402183	1.000000	0.71417	0.998000	0.56505	0.558000	0.35554	9.083000	0.94067	2.894000	0.99253	0.655000	0.94253	GAA		0.438	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		34	20	0	0	0	0.003755	0	34	20		
SPTAN1	6709	broad.mit.edu	37	9	131367332	131367332	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:131367332G>C	ENST00000372731.4	+	30	3849	c.3739G>C	c.(3739-3741)Gaa>Caa	p.E1247Q	SPTAN1_ENST00000358161.5_Missense_Mutation_p.E1247Q|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1247Q	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1247					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGAAACCAAAGAATGGATTGA	0.413																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(3739-3741)GAA>CAA		spectrin, alpha, non-erythrocytic 1							82.0	72.0	76.0					9																	131367332		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131367332G>C	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.3739G>C	9.37:g.131367332G>C	ENSP00000361816:p.Glu1247Gln					SPTAN1_uc011mbh.1_Missense_Mutation_p.E1259Q|SPTAN1_uc004bvm.3_Missense_Mutation_p.E1247Q|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1227Q	p.E1247Q	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			30	3852	+			1247			Spectrin 14.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.3739G>C	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925038	0.73213	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.50277	0.75;0.75;0.75	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.60779	0.2295	L	0.33624	1.015	0.80722	D	1	D;D;D;D	0.63046	0.991;0.981;0.99;0.992	D;P;D;D	0.74023	0.982;0.763;0.962;0.977	T	0.56872	-0.7907	10	0.42905	T	0.14	.	20.2019	0.98263	0.0:0.0:1.0:0.0	.	1247;1227;1247;1247	A6NG51;Q13813-3;Q13813-2;Q13813	.;.;.;SPTA2_HUMAN	Q	1247;1247;1247;1227	ENSP00000350882:E1247Q;ENSP00000361816:E1247Q;ENSP00000361824:E1247Q	ENSP00000350882:E1247Q	E	+	1	0	SPTAN1	130407153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.776000	0.95493	0.655000	0.94253	GAA		0.413	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		37	25	0	0	0	0.005524	0	37	25		
SPTAN1	6709	broad.mit.edu	37	9	131378100	131378100	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:131378100G>A	ENST00000372731.4	+	40	5433	c.5323G>A	c.(5323-5325)Gac>Aac	p.D1775N	SPTAN1_ENST00000358161.5_Missense_Mutation_p.D1780N|SPTAN1_ENST00000372739.3_Missense_Mutation_p.D1780N	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1775					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGACATGGATGACGAGGAGTC	0.567																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(5323-5325)GAC>AAC		spectrin, alpha, non-erythrocytic 1							77.0	70.0	73.0					9																	131378100		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131378100G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.5323G>A	9.37:g.131378100G>A	ENSP00000361816:p.Asp1775Asn					SPTAN1_uc004bvm.3_Missense_Mutation_p.D1780N|SPTAN1_uc004bvn.3_Missense_Mutation_p.D1755N	p.D1775N	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			40	5436	+			1775			Spectrin 19.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.5323G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831604	0.91036	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.55930	0.49;0.49;0.49	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.74122	0.3675	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;0.992;0.994	D;D;D	0.91635	0.999;0.975;0.986	T	0.74197	-0.3743	10	0.66056	D	0.02	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	1755;1780;1775	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	N	1780;1775;1780;1755;24	ENSP00000350882:D1780N;ENSP00000361816:D1775N;ENSP00000361824:D1780N	ENSP00000350882:D1780N	D	+	1	0	SPTAN1	130417921	1.000000	0.71417	0.981000	0.43875	0.982000	0.71751	9.400000	0.97290	2.824000	0.97209	0.655000	0.94253	GAC		0.567	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		44	25	0	0	0	0.010771	0	44	25		
SPTAN1	6709	broad.mit.edu	37	9	131394948	131394948	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:131394948G>A	ENST00000372731.4	+	54	7206	c.7096G>A	c.(7096-7098)Gaa>Aaa	p.E2366K	WDR34_ENST00000483181.1_5'Flank|SPTAN1_ENST00000358161.5_Missense_Mutation_p.E2371K|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E2371K	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2366	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGAGGAAGGGGAACCTGACCC	0.567																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(7096-7098)GAA>AAA		spectrin, alpha, non-erythrocytic 1							67.0	64.0	65.0					9																	131394948		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131394948G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.7096G>A	9.37:g.131394948G>A	ENSP00000361816:p.Glu2366Lys					SPTAN1_uc004bvm.3_Missense_Mutation_p.E2371K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E2346K|SPTAN1_uc004bvo.3_Missense_Mutation_p.E133K|SPTAN1_uc004bvp.3_Missense_Mutation_p.E109K	p.E2366K	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			54	7209	+			2366			EF-hand 2.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.7096G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	35	5.475186	0.96291	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.74315	-0.83;-0.83;-0.83	5.45	5.45	0.79879	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.80979	0.4728	L	0.33293	1	0.80722	D	1	P;D;B	0.56035	0.507;0.974;0.173	B;D;B	0.67725	0.241;0.953;0.18	T	0.82845	-0.0256	10	0.87932	D	0	.	19.2695	0.94003	0.0:0.0:1.0:0.0	.	2346;2371;2366	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	K	2371;2366;2371;2346	ENSP00000350882:E2371K;ENSP00000361816:E2366K;ENSP00000361824:E2371K	ENSP00000350882:E2371K	E	+	1	0	SPTAN1	130434769	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.465000	0.97660	2.548000	0.85928	0.462000	0.41574	GAA		0.567	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		58	35	0	0	0	0.00361	0	58	35		
WDR34	89891	broad.mit.edu	37	9	131397156	131397156	+	Silent	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:131397156G>A	ENST00000372715.2	-	7	1086	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	WDR34_ENST00000483181.1_5'UTR	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	342						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CAAAGCTGGAGAAGGCCACTG	0.647											OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004bvq.1		NaN																	0				central_nervous_system(2)|skin(1)	3						c.(1024-1026)TTC>TTT		WD repeat domain 34							29.0	34.0	32.0					9																	131397156		2203	4299	6502	SO:0001819	synonymous_variant	89891					cytoplasm		g.chr9:131397156G>A	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"""WD repeat domain containing"""	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.1026C>T	9.37:g.131397156G>A			OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1587	WDR34_uc004bvs.1_Silent_p.F333F|WDR34_uc004bvr.1_Silent_p.F314F	p.F342F	NM_052844	NP_443076	Q96EX3	WDR34_HUMAN			7	1150	-			342					Q5VXV4|Q9BV46	Silent	SNP	ENST00000372715.2	37	c.1026C>T	CCDS6906.2																																																																																				0.647	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1		NM_052844		26	14	0	0	0	0.005443	0	26	14		
KCNT1	57582	broad.mit.edu	37	9	138650354	138650354	+	Splice_Site	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:138650354G>A	ENST00000263604.3	+	10	797	c.797G>A	c.(796-798)gGg>gAg	p.G266E	KCNT1_ENST00000298480.5_Splice_Site_p.G285E|KCNT1_ENST00000491806.2_Splice_Site_p.G252E|KCNT1_ENST00000487664.1_Splice_Site_p.G237E|KCNT1_ENST00000490355.2_Splice_Site_p.G266E|KCNT1_ENST00000486577.2_Splice_Site_p.G246E|KCNT1_ENST00000371757.2_Splice_Site_p.G285E|KCNT1_ENST00000488444.2_Splice_Site_p.G266E			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	266					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GTTTTCACGGGGTGAGTGCCG	0.612																																						uc011mdq.1		NaN																	0				large_intestine(2)|ovary(1)|pancreas(1)	4						c.(853-855)GGG>GAG		potassium channel, subfamily T, member 1							196.0	151.0	166.0					9																	138650354		2203	4300	6503	SO:0001630	splice_region_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138650354G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.797+1G>A	9.37:g.138650354G>A						KCNT1_uc011mdr.1_Missense_Mutation_p.G112E|KCNT1_uc010nbf.2_Missense_Mutation_p.G237E|KCNT1_uc004cgo.1_Missense_Mutation_p.G34E	p.G285E	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	10	928	+		Myeloproliferative disorder(178;0.0821)	285					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.854G>A		.	.	.	.	.	.	.	.	.	.	G	20.6	4.016630	0.75161	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000473941;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;D;T	0.97642	1.56;1.56;1.56;-4.47;1.56	4.68	4.68	0.58851	Ion transport 2 (1);	0.000000	0.85682	U	0.000000	D	0.97892	0.9307	M	0.84683	2.71	0.80722	D	1	P;P;P;B	0.46912	0.578;0.578;0.886;0.445	P;P;P;P	0.52758	0.568;0.648;0.708;0.449	D	0.98510	1.0618	10	0.54805	T	0.06	-1.9536	16.5809	0.84714	0.0:0.0:1.0:0.0	.	252;285;237;266	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	E	237;285;285;232;246;252;266;266;266	ENSP00000417851:G237E;ENSP00000298480:G285E;ENSP00000360822:G285E;ENSP00000420764:G232E;ENSP00000263604:G266E	ENSP00000263604:G266E	G	+	2	0	KCNT1	137790175	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	7.387000	0.79785	2.145000	0.66743	0.313000	0.20887	GGG		0.612	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_020822	Missense_Mutation	33	31	0	0	0	0.004289	0	33	31		
SEC16A	9919	broad.mit.edu	37	9	139348776	139348776	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:139348776G>A	ENST00000371706.3	-	19	5360	c.5327C>T	c.(5326-5328)cCg>cTg	p.P1776L	SEC16A_ENST00000290037.6_Missense_Mutation_p.P1776L|SEC16A_ENST00000431893.2_Missense_Mutation_p.P1776L|SEC16A_ENST00000313050.7_Missense_Mutation_p.P1954L			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1776	Pro-rich.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GAGCGTCTGCGGAGCTGCATG	0.602																																						uc004chx.2		NaN																	0					0						c.(5860-5862)CCG>CTG		SEC16 homolog A							6.0	8.0	7.0					9																	139348776		1975	4123	6098	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139348776G>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.5327C>T	9.37:g.139348776G>A	ENSP00000360771:p.Pro1776Leu					SEC16A_uc004chs.2_5'Flank|SEC16A_uc004cht.2_5'UTR|SEC16A_uc004chu.2_Missense_Mutation_p.P139L|SEC16A_uc004chv.3_Missense_Mutation_p.P1344L|SEC16A_uc004chw.2_Missense_Mutation_p.P1954L|SEC16A_uc010nbn.2_Missense_Mutation_p.P1954L	p.P1954L	NM_014866	NP_055681	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	21	6170	-		Myeloproliferative disorder(178;0.0511)	1776			Pro-rich.		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.5861C>T		.	.	.	.	.	.	.	.	.	.	G	14.53	2.564369	0.45694	.	.	ENSG00000148396	ENST00000313050;ENST00000277537;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T;T;T	0.52526	1.65;0.66;1.26;1.69;1.65;1.62	4.46	4.46	0.54185	.	0.108901	0.64402	D	0.000004	T	0.67887	0.2941	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.89917	0.993;1.0;1.0;1.0	P;D;D;D	0.97110	0.794;1.0;0.999;0.999	T	0.72453	-0.4289	10	0.87932	D	0	-11.3616	14.6762	0.68981	0.0:0.0:1.0:0.0	.	1954;1776;1776;1344	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	L	1954;348;676;1776;1776;1776;1344	ENSP00000325827:P1954L;ENSP00000277537:P348L;ENSP00000403525:P676L;ENSP00000360771:P1776L;ENSP00000290037:P1776L;ENSP00000387583:P1776L	ENSP00000277537:P348L	P	-	2	0	SEC16A	138468597	0.920000	0.31207	0.864000	0.33941	0.033000	0.12548	1.476000	0.35420	2.409000	0.81822	0.561000	0.74099	CCG		0.602	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1		XM_088459		2	5	0	0	0	0.004672	0	2	5		
XG	7499	broad.mit.edu	37	X	2670373	2670373	+	Silent	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chrX:2670373C>A	ENST00000381174.5	+	1	283	c.58C>A	c.(58-60)Cga>Aga	p.R20R	XG_ENST00000419513.2_Silent_p.R20R|XG_ENST00000426774.1_Silent_p.R20R			P55808	XG_HUMAN	Xg blood group	20						integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AATGCACGCCCGAGGTAAGAG	0.483																																						uc011mhg.1		NaN																	0				ovary(1)	1						c.(58-60)CGA>AGA		XG glycoprotein isoform 1 precursor							176.0	169.0	172.0					X																	2670373		2203	4294	6497	SO:0001819	synonymous_variant	7499					integral to membrane|plasma membrane		g.chrX:2670373C>A	AF380356	CCDS14120.1, CCDS48073.1	Xp22.32	2014-07-19	2006-01-12		ENSG00000124343	ENSG00000124343		"""Blood group antigens"", ""Pseudoautosomal regions / PAR1"""	12806	protein-coding gene	gene with protein product		300879	"""Xg blood group (pseudoautosomal boundary-divided on the X chromosome)"""	PBDX		8054981	Standard	NM_175569		Approved		uc004cqp.3	P55808	OTTHUMG00000021075	ENST00000381174.5:c.58C>A	X.37:g.2670373C>A						XG_uc010ndb.2_RNA|XG_uc004cqp.2_Silent_p.R20R	p.R20R	NM_175569	NP_780778	P55808	XG_HUMAN			1	281	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	20					E9PCH1|Q496N8|Q496N9|Q496P0|Q71BZ5	Silent	SNP	ENST00000381174.5	37	c.58C>A	CCDS14120.1																																																																																				0.483	XG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055633.2		NM_175569		114	190	1	0	3.17917e-66	0.00361	3.73416e-66	114	190		
RPGR	6103	broad.mit.edu	37	X	38156597	38156597	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chrX:38156597C>T	ENST00000339363.3	-	11	1521	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Missense_Mutation_p.E390K|RPGR_ENST00000318842.7_Missense_Mutation_p.E452K|RPGR_ENST00000342811.3_Missense_Mutation_p.E452K|RPGR_ENST00000338898.3_Missense_Mutation_p.E452K|RPGR_ENST00000378505.2_Missense_Mutation_p.E452K			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	452					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						AGGTTTCTCTCAGAACATCGT	0.453																																						uc004ded.1		NaN																	0				ovary(1)	1						c.(1354-1356)GAG>AAG		retinitis pigmentosa GTPase regulator isoform C							112.0	102.0	105.0					X																	38156597		2202	4300	6502	SO:0001583	missense	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38156597C>T	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.1354G>A	X.37:g.38156597C>T	ENSP00000343671:p.Glu452Lys					RPGR_uc004deb.2_Missense_Mutation_p.E452K|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA|RPGR_uc004dee.1_Missense_Mutation_p.E137K	p.E452K	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN			11	1522	-			452					B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.1354G>A		.	.	.	.	.	.	.	.	.	.	C	1.517	-0.547821	0.04024	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505	T;T;T;T;T;T	0.50277	1.35;0.98;0.75;1.36;1.35;1.31	4.85	-9.7	0.00521	.	1.797120	0.03493	U	0.216853	T	0.21022	0.0506	N	0.08118	0	0.09310	N	1	B;B	0.26318	0.146;0.058	B;B	0.22601	0.04;0.03	T	0.11012	-1.0605	10	0.12103	T	0.63	.	8.3224	0.32136	0.0873:0.5504:0.2611:0.1011	.	452;452	E9PE28;Q92834-2	.;.	K	452;390;452;452;452;452	ENSP00000343671:E452K;ENSP00000308783:E390K;ENSP00000340208:E452K;ENSP00000322219:E452K;ENSP00000339531:E452K;ENSP00000367766:E452K	ENSP00000308783:E390K	E	-	1	0	RPGR	38041541	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.558000	0.00431	-3.943000	0.00089	-0.348000	0.07805	GAG		0.453	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_000328		21	36	0	0	0	0.010504	0	21	36		
SLC35A2	7355	broad.mit.edu	37	X	48762196	48762196	+	Silent	SNP	G	G	A	rs146079657	byFrequency	TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chrX:48762196G>A	ENST00000247138.5	-	4	993	c.990C>T	c.(988-990)ctC>ctT	p.L330L	SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000452555.2_Silent_p.L358L|SLC35A2_ENST00000376521.1_Silent_p.L330L|SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000413561.2_Silent_p.L269L|SLC35A2_ENST00000376515.3_Intron	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	330					galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						CACCAATGACGAGTCCAGCGC	0.607																																						uc004dlo.1		NaN																	0				breast(1)	1						c.(988-990)CTC>CTT		solute carrier family 35, member A2 isoform a		G	,,	0,3835		0,0,0,1632,571	71.0	55.0	60.0		,990,990	-4.9	0.2	X	dbSNP_134	60	3,6725		0,1,2,2427,1870	no	intron,coding-synonymous,coding-synonymous	SLC35A2	NM_001032289.1,NM_001042498.2,NM_005660.1	,,	0,1,2,4059,2441	AA,AG,A,GG,G		0.0446,0.0,0.0284	,,	,330/394,330/397	48762196	3,10560	2203	4300	6503	SO:0001819	synonymous_variant	7355				galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity	g.chrX:48762196G>A	D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"""Solute carriers"""	11022	protein-coding gene	gene with protein product		314375	"""solute carrier family 35 (UDP-galactose transporter), member 2"""	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.990C>T	X.37:g.48762196G>A						SLC35A2_uc011mml.1_Silent_p.L343L|SLC35A2_uc004dlp.1_Silent_p.L330L|SLC35A2_uc011mmm.1_Silent_p.L358L|SLC35A2_uc011mmn.1_Silent_p.L269L|SLC35A2_uc004dlr.1_Missense_Mutation_p.S184L|SLC35A2_uc004dlq.2_Intron	p.L330L	NM_005660	NP_005651	P78381	S35A2_HUMAN			4	994	-			330			Helical; (Potential).		A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Silent	SNP	ENST00000247138.5	37	c.990C>T	CCDS14311.1																																																																																				0.607	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060790.1		NM_005660		24	5	0	0	0	0.005443	0	24	5		
KCND1	3750	broad.mit.edu	37	X	48826378	48826378	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chrX:48826378C>A	ENST00000218176.3	-	1	1598	c.301G>T	c.(301-303)Ggg>Tgg	p.G101W	KCND1_ENST00000376477.1_5'Flank	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	101					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	TGCAGCCGCCCCGTTCGGTAG	0.582																																						uc004dlx.1		NaN																	0				ovary(2)|lung(1)	3						c.(301-303)GGG>TGG		potassium voltage-gated channel, Shal-related							46.0	34.0	38.0					X																	48826378		2203	4300	6503	SO:0001583	missense	3750					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity	g.chrX:48826378C>A	AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.301G>T	X.37:g.48826378C>A	ENSP00000218176:p.Gly101Trp					KCND1_uc004dlw.1_5'Flank	p.G101W	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN			1	1874	-			101			Cytoplasmic (Potential).		A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	ENST00000218176.3	37	c.301G>T	CCDS14314.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554650	0.45487	.	.	ENSG00000102057	ENST00000218176	T	0.57752	0.38	4.8	4.8	0.61643	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.85448	0.5699	H	0.99830	4.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92381	0.5913	10	0.87932	D	0	.	15.7213	0.77713	0.0:1.0:0.0:0.0	.	101	Q9NSA2	KCND1_HUMAN	W	101	ENSP00000218176:G101W	ENSP00000218176:G101W	G	-	1	0	KCND1	48711322	1.000000	0.71417	0.057000	0.19452	0.133000	0.20885	7.651000	0.83577	2.222000	0.72286	0.513000	0.50165	GGG		0.582	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1		NM_004979		8	32	1	0	0.000274275	0.004482	0.000282038	8	32		
CCDC120	90060	broad.mit.edu	37	X	48921477	48921477	+	Missense_Mutation	SNP	G	G	A	rs370462231		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chrX:48921477G>A	ENST00000376396.3	+	5	488	c.269G>A	c.(268-270)cGc>cAc	p.R90H	CCDC120_ENST00000597275.1_Missense_Mutation_p.R90H|CCDC120_ENST00000496529.2_Missense_Mutation_p.R90H|CCDC120_ENST00000536628.2_Missense_Mutation_p.R78H|CCDC120_ENST00000603986.1_Missense_Mutation_p.R125H|CCDC120_ENST00000422185.2_Missense_Mutation_p.R90H	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	90										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CCCACAGCCCGCGCCTACCCT	0.682																																						uc010nik.2		NaN																	0				pancreas(1)	1						c.(268-270)CGC>CAC		coiled-coil domain containing 120 isoform 3		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,3826		0,0,1,1630,566	18.0	17.0	17.0		269,233,233,269	3.2	0.6	X		17	0,6723		0,0,0,2428,1867	no	missense,missense,missense,missense	CCDC120	NM_001163321.1,NM_001163322.1,NM_001163323.1,NM_033626.2	29,29,29,29	0,0,1,4058,2433	AA,AG,A,GG,G		0.0,0.0261,0.0095	probably-damaging,probably-damaging,probably-damaging,probably-damaging	90/662,78/650,78/619,90/631	48921477	1,10549	2197	4295	6492	SO:0001583	missense	90060						protein binding	g.chrX:48921477G>A	BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.269G>A	X.37:g.48921477G>A	ENSP00000365577:p.Arg90His					CCDC120_uc011mmq.1_Missense_Mutation_p.R78H|CCDC120_uc004dmf.2_Missense_Mutation_p.R90H|CCDC120_uc010nil.2_Missense_Mutation_p.R90H|CCDC120_uc011mmr.1_Missense_Mutation_p.R90H|CCDC120_uc011mms.1_Missense_Mutation_p.R78H	p.R90H	NM_033626	NP_296375	Q96HB5	CC120_HUMAN			5	776	+			90					B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	ENST00000376396.3	37	c.269G>A	CCDS14316.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509519	0.27036	2.61E-4	0.0	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	4.08	3.16	0.36331	.	0.000000	0.38164	N	0.001781	T	0.21186	0.0510	N	0.14661	0.345	0.18873	N	0.999983	D;D;D;D	0.60575	0.983;0.988;0.979;0.958	P;P;P;P	0.49597	0.595;0.616;0.616;0.494	T	0.04723	-1.0931	9	0.66056	D	0.02	-5.3549	5.4664	0.16646	0.0:0.2355:0.556:0.2085	.	78;125;78;90	B4DTU2;B4DFC1;B4DF24;Q96HB5	.;.;.;CC120_HUMAN	H	90;90;78	.	ENSP00000365577:R90H	R	+	2	0	CCDC120	48808421	0.991000	0.36638	0.633000	0.29310	0.621000	0.37620	2.169000	0.42434	1.892000	0.54788	0.468000	0.43344	CGC		0.682	CCDC120-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056528.1		NM_033626		4	22	0	0	0	0.009096	0	4	22		
HEPH	9843	broad.mit.edu	37	X	65427138	65427138	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chrX:65427138G>A	ENST00000343002.2	+	13	3057	c.2393G>A	c.(2392-2394)cGg>cAg	p.R798Q	HEPH_ENST00000441993.2_Missense_Mutation_p.R801Q|HEPH_ENST00000419594.1_Missense_Mutation_p.R609Q|HEPH_ENST00000336279.5_Missense_Mutation_p.R531Q|HEPH_ENST00000374727.3_Missense_Mutation_p.R801Q|HEPH_ENST00000519389.1_Missense_Mutation_p.R852Q			Q9BQS7	HEPH_HUMAN	hephaestin	798	Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGGATCCCTCGGCCAAGGACT	0.478																																						uc011moz.1		NaN																	0				lung(5)|ovary(4)	9						c.(2401-2403)CGG>CAG		hephaestin isoform a							105.0	87.0	93.0					X																	65427138		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65427138G>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2393G>A	X.37:g.65427138G>A	ENSP00000343939:p.Arg798Gln					HEPH_uc004dwn.2_Missense_Mutation_p.R801Q|HEPH_uc004dwo.2_Missense_Mutation_p.R531Q|HEPH_uc010nkr.2_Missense_Mutation_p.R609Q|HEPH_uc011mpa.1_Missense_Mutation_p.R801Q|HEPH_uc010nks.2_Missense_Mutation_p.R90Q	p.R801Q	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			14	2462	+			798			Extracellular (Potential).|Plastocyanin-like 5.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.2402G>A		.	.	.	.	.	.	.	.	.	.	G	11.26	1.585313	0.28268	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.98937	-5.25;-5.25;-5.25;-5.25;-5.25;-5.25;-5.25	4.85	-3.47	0.04753	Cupredoxin (2);	0.527347	0.18996	N	0.125498	D	0.92293	0.7555	N	0.10916	0.065	0.09310	N	1	B;B;P;B	0.36495	0.017;0.008;0.556;0.029	B;B;B;B	0.28465	0.007;0.004;0.09;0.004	D	0.87997	0.2753	10	0.35671	T	0.21	.	8.8732	0.35330	0.6789:0.0:0.2:0.1212	.	852;198;609;798	E9PHN8;B4DFV3;E7ES21;Q9BQS7	.;.;.;HEPH_HUMAN	Q	852;801;531;801;609;798;755	ENSP00000430620:R852Q;ENSP00000363859:R801Q;ENSP00000337418:R531Q;ENSP00000411687:R801Q;ENSP00000413211:R609Q;ENSP00000343939:R798Q;ENSP00000398078:R755Q	ENSP00000337418:R531Q	R	+	2	0	HEPH	65343863	0.000000	0.05858	0.003000	0.11579	0.910000	0.53928	-0.117000	0.10708	-1.444000	0.01950	-0.498000	0.04607	CGG		0.478	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1		NM_138737		14	3	0	0	0	0.001855	0	14	3		
PDZD4	57595	broad.mit.edu	37	X	153072223	153072223	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chrX:153072223C>G	ENST00000164640.4	-	4	651	c.460G>C	c.(460-462)Gag>Cag	p.E154Q	PDZD4_ENST00000393758.2_Missense_Mutation_p.E79Q|PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000544474.1_Missense_Mutation_p.E45Q	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	154	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGGTCCTCCTCGTCGTCC	0.627																																						uc004fiz.1		NaN																	0				breast(1)	1						c.(460-462)GAG>CAG		PDZ domain containing 4							140.0	108.0	119.0					X																	153072223		2202	4300	6502	SO:0001583	missense	57595					cell cortex		g.chrX:153072223C>G	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.460G>C	X.37:g.153072223C>G	ENSP00000164640:p.Glu154Gln					PDZD4_uc004fiy.1_Missense_Mutation_p.E79Q|PDZD4_uc004fix.2_Missense_Mutation_p.E58Q|PDZD4_uc004fja.1_Missense_Mutation_p.E160Q|PDZD4_uc011mze.1_Missense_Mutation_p.E45Q	p.E154Q	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN			4	710	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		154			PDZ.		B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	ENST00000164640.4	37	c.460G>C	CCDS14732.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.007588	0.93287	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.42513	0.97;0.97;0.97	5.34	5.34	0.76211	PDZ/DHR/GLGF (4);	0.155014	0.56097	D	0.000029	T	0.54647	0.1871	L	0.35542	1.07	0.58432	D	0.999999	D;P;D;D;D	0.76494	0.999;0.534;0.997;0.997;0.994	D;P;D;D;D	0.74023	0.982;0.545;0.952;0.956;0.962	T	0.58329	-0.7655	10	0.72032	D	0.01	-22.2569	16.765	0.85521	0.0:1.0:0.0:0.0	.	45;160;154;79;58	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	Q	154;79;58;45	ENSP00000164640:E154Q;ENSP00000377355:E79Q;ENSP00000442033:E45Q	ENSP00000164640:E154Q	E	-	1	0	PDZD4	152725417	1.000000	0.71417	0.998000	0.56505	0.877000	0.50540	7.752000	0.85141	2.218000	0.71995	0.600000	0.82982	GAG		0.627	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3		NM_032512		67	16	0	0	0	0.00361	0	67	16		
SPEN	23013	broad.mit.edu	37	1	16260122	16260130	+	In_Frame_Del	DEL	AGCGATCCA	AGCGATCCA	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr1:16260122_16260130delAGCGATCCA	ENST00000375759.3	+	11	7591_7599	c.7387_7395delAGCGATCCA	c.(7387-7395)agcgatccadel	p.SDP2463del		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2463	Interaction with MSX2. {ECO:0000250}.|Pro-rich.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GACCCCACCCAGCGATCCAAGCATCCCCA	0.603																																						uc001axk.1		NaN																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(7387-7395)AGCGATCCAdel		spen homolog, transcriptional regulator																																				SO:0001651	inframe_deletion	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16260122_16260130delAGCGATCCA		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7387_7395delAGCGATCCA	1.37:g.16260122_16260130delAGCGATCCA	ENSP00000364912:p.Ser2463_Pro2465del					SPEN_uc010obp.1_In_Frame_Del_p.SDP2422del	p.SDP2463del	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	7591_7599	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2463_2465			RID.|Pro-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	In_Frame_Del	DEL	ENST00000375759.3	37	c.7387_7395delAGCGATCCA	CCDS164.1																																																																																				0.603	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1		NM_015001		12	117	NaN	NaN	NaN	NaN	NaN	12	117	---	---
MRPL49	740	broad.mit.edu	37	11	64888248	64888250	+	5'Flank	DEL	TCT	TCT	-	rs1065065		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr11:64888248_64888250delTCT	ENST00000279242.2	+	0	0				MRPL49_ENST00000534078.1_5'Flank|FAU_ENST00000531743.1_In_Frame_Del_p.K102del|FAU_ENST00000279259.3_In_Frame_Del_p.E83del|MRPL49_ENST00000526171.1_5'Flank|FAU_ENST00000529259.1_3'UTR|FAU_ENST00000529639.1_In_Frame_Del_p.K102del|MRPL49_ENST00000531705.1_5'Flank|FAU_ENST00000527548.1_In_Frame_Del_p.K102del|FAU_ENST00000525297.1_In_Frame_Del_p.K67del	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|ovary(1)	2						GCCCGACCTGTCTTCTTCTTCTT	0.542																																						uc001ocx.2		NaN																	0					0						c.(304-309)AAGACA>ACA		ubiquitin-like protein fubi and ribosomal																																				SO:0001631	upstream_gene_variant	2197							g.chr11:64888248_64888250delTCT		CCDS8096.1	11q13.1	2012-11-14	2001-10-16	2001-10-19	ENSG00000149792	ENSG00000149792		"""Mitochondrial ribosomal proteins / large subunits"""	1176	protein-coding gene	gene with protein product	"""neighbor of FAU"", ""next to FAU"""	606866	"""chromosome 11 open reading frame 4"""	C11orf4		8786148	Standard	NM_004927		Approved	NOF, NOF1, L49mt	uc001oda.2	Q13405	OTTHUMG00000165608		11.37:g.64888257_64888259delTCT	Exception_encountered					FAU_uc001ocy.1_3'UTR|MRPL49_uc001ocz.1_5'Flank|MRPL49_uc001oda.1_5'Flank	p.K102del	NM_001997	NP_001988	P35544	UBIM_HUMAN			5	412_414	-			Error:Variant_position_missing_in_P35544_after_alignment					B2R4G6	In_Frame_Del	DEL	ENST00000279242.2	37	c.305_307delAGA	CCDS8096.1																																																																																				0.542	MRPL49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385293.1		NM_004927		7	282	NaN	NaN	NaN	NaN	NaN	7	282	---	---
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr12:122812690_122812691insT	ENST00000540338.1	-	16	3093_3094	c.3052_3053insA	c.(3052-3054)agcfs	p.S1018fs	CLIP1_ENST00000358808.2_Frame_Shift_Ins_p.S1007fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.S1007fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.S896fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.S593fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.S972fs			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505																																						uc001ucg.1		NaN																	0				ovary(2)|breast(1)	3						c.(3052-3054)AGCfs		restin isoform a																																				SO:0001589	frameshift_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122812690_122812691insT		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3053dupA	12.37:g.122812692_122812692dupT	ENSP00000439093:p.Ser1018fs					CLIP1_uc001uch.1_Frame_Shift_Ins_p.S1007fs|CLIP1_uc001uci.1_Frame_Shift_Ins_p.S972fs|CLIP1_uc001ucj.1_Frame_Shift_Ins_p.S593fs	p.S1018fs	NM_002956	NP_002947	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	16	3158_3159	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1018			Potential.		A0AVD3|Q17RS4|Q29RG0	Frame_Shift_Ins	INS	ENST00000540338.1	37	c.3052_3053insA	CCDS58285.1																																																																																				0.505	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1		NM_002956		20	389	NaN	NaN	NaN	NaN	NaN	20	389	---	---
OR4N2	390429	broad.mit.edu	37	14	20296055	20296056	+	Frame_Shift_Ins	INS	-	-	T	rs149523724		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:20296055_20296056insT	ENST00000315947.1	+	1	448_449	c.448_449insT	c.(448-450)cttfs	p.L150fs	OR4N2_ENST00000568211.1_Frame_Shift_Ins_p.L150fs	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCTCTGTGGCTTGGGGGTTTT	0.53																																						uc010tkv.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(448-450)CTTfs		olfactory receptor, family 4, subfamily N,																																				SO:0001589	frameshift_variant	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296055_20296056insT		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.450dupT	14.37:g.20296057_20296057dupT	ENSP00000319601:p.Leu150fs						p.L150fs	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	448_449	+	all_cancers(95;0.00108)		150			Helical; Name=4; (Potential).		Q6IEY9|Q6IFA2	Frame_Shift_Ins	INS	ENST00000315947.1	37	c.448_449insT	CCDS32022.1																																																																																				0.530	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2				57	347	NaN	NaN	NaN	NaN	NaN	57	347	---	---
SLC10A1	6554	broad.mit.edu	37	14	70252841	70252841	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr14:70252841delC	ENST00000216540.4	-	2	673	c.540delG	c.(538-540)cggfs	p.R180fs		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	180					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	Bumetanide(DB00887)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Ethinyl Estradiol(DB00977)|Indomethacin(DB00328)|Liothyronine(DB00279)|Liotrix(DB01583)|Pitavastatin(DB08860)|Probenecid(DB01032)|Progesterone(DB00396)|Testosterone(DB00624)|Ursodeoxycholic acid(DB01586)	TGTATTGTGGCCGTTTGGATT	0.438																																						uc001xlr.2		NaN																	0				ovary(1)	1						c.(538-540)CGGfs		solute carrier family 10, member 1							183.0	155.0	165.0					14																	70252841		2203	4300	6503	SO:0001589	frameshift_variant	6554				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr14:70252841delC	L21893	CCDS9797.1	14q24.2	2013-07-18	2013-07-18		ENSG00000100652	ENSG00000100652		"""Solute carriers"""	10905	protein-coding gene	gene with protein product		182396				8132774	Standard	NM_003049		Approved	NTCP	uc001xlr.2	Q14973	OTTHUMG00000171236	ENST00000216540.4:c.540delG	14.37:g.70252841delC	ENSP00000216540:p.Arg180fs						p.R180fs	NM_003049	NP_003040	Q14973	NTCP_HUMAN		all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	2	674	-			180					B9EGB6|Q2TU29	Frame_Shift_Del	DEL	ENST00000216540.4	37	c.540delG	CCDS9797.1																																																																																				0.438	SLC10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412464.1				36	116	NaN	NaN	NaN	NaN	NaN	36	116	---	---
RPL23	9349	broad.mit.edu	37	17	37008873	37008892	+	Frame_Shift_Del	DEL	TGGTTTGCCTTTCTTGACTG	TGGTTTGCCTTTCTTGACTG	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:37008873_37008892delTGGTTTGCCTTTCTTGACTG	ENST00000479035.2	-	3	323_342	c.191_210delCAGTCAAGAAAGGCAAACCA	c.(190-210)acagtcaagaaaggcaaaccafs	p.TVKKGKP64fs	SNORA21_ENST00000516890.1_RNA|RPL23_ENST00000577407.1_Frame_Shift_Del_p.TVKKGKP64fs|RPL23_ENST00000394332.1_Frame_Shift_Del_p.TVKKGKP64fs|SNORA21_ENST00000362423.1_RNA|RPL23_ENST00000394333.1_Frame_Shift_Del_p.TVKKGKP64fs|RPL23_ENST00000245857.5_Frame_Shift_Del_p.TVKKGKP5fs	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN	ribosomal protein L23	64					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal protein import into nucleus (GO:0006610)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)	3						TTCTGAGCTCTGGTTTGCCTTTCTTGACTGTGGCCATCAC	0.482																																						uc002hqx.1		NaN																	0					0						c.(190-210)ACAGTCAAGAAAGGCAAACCAfs		ribosomal protein L23																																				SO:0001589	frameshift_variant	9349				endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome	g.chr17:37008873_37008892delTGGTTTGCCTTTCTTGACTG	X52839	CCDS11330.1	17q12	2011-04-06			ENSG00000125691	ENSG00000125691		"""L ribosomal proteins"""	10316	protein-coding gene	gene with protein product		603662				1861993	Standard	NM_000978		Approved	rpL17, L23	uc002hqx.1	P62829	OTTHUMG00000133118	ENST00000479035.2:c.191_210delCAGTCAAGAAAGGCAAACCA	17.37:g.37008873_37008892delTGGTTTGCCTTTCTTGACTG	ENSP00000420311:p.Thr64fs					RPL23_uc002hqw.1_Frame_Shift_Del_p.T5fs|RPL23_uc002hqy.1_Frame_Shift_Del_p.T64fs	p.T64fs	NM_000978	NP_000969	P62829	RL23_HUMAN			3	281_300	-			64_70					P23131|P24048|Q29246|Q3SWV7|Q6P5S1	Frame_Shift_Del	DEL	ENST00000479035.2	37	c.191_210delCAGTCAAGAAAGGCAAACCA	CCDS11330.1																																																																																				0.482	RPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256785.3		NM_000978		11	133	NaN	NaN	NaN	NaN	NaN	11	133	---	---
NBR1	4077	broad.mit.edu	37	17	41352619	41352619	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:41352619delT	ENST00000422280.1	+	17	2921	c.2462delT	c.(2461-2463)ctgfs	p.L821fs	NBR1_ENST00000341165.6_Frame_Shift_Del_p.L821fs|NBR1_ENST00000590996.1_Frame_Shift_Del_p.L821fs|NBR1_ENST00000589872.1_Frame_Shift_Del_p.L821fs|NBR1_ENST00000389312.4_Frame_Shift_Del_p.L821fs|NBR1_ENST00000542611.1_Frame_Shift_Del_p.L800fs	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	821					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CCACCGTCACTGCCCAGGTAC	0.517																																						uc010czd.2		NaN																	0				skin(1)	1						c.(2461-2463)CTGfs		neighbor of BRCA1 gene 1							57.0	50.0	52.0					17																	41352619		1568	3582	5150	SO:0001589	frameshift_variant	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41352619delT	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.2462delT	17.37:g.41352619delT	ENSP00000411250:p.Leu821fs					NBR1_uc010diz.2_Frame_Shift_Del_p.L821fs|NBR1_uc010whu.1_Frame_Shift_Del_p.L821fs|NBR1_uc010whv.1_Frame_Shift_Del_p.L821fs|NBR1_uc010whw.1_Frame_Shift_Del_p.L800fs	p.L821fs	NM_031862	NP_114068	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	17	2602	+		Breast(137;0.00086)	821					Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Frame_Shift_Del	DEL	ENST00000422280.1	37	c.2462delT	CCDS45694.1																																																																																				0.517	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1		NM_005899		41	94	NaN	NaN	NaN	NaN	NaN	41	94	---	---
GNA13	10672	broad.mit.edu	37	17	63010685	63010696	+	In_Frame_Del	DEL	ATTGTTTCAAAA	ATTGTTTCAAAA	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr17:63010685_63010696delATTGTTTCAAAA	ENST00000439174.2	-	4	1058_1069	c.813_824delTTTTGAAACAAT	c.(811-825)atttttgaaacaatc>atc	p.271_275IFETI>I	GNA13_ENST00000541118.1_In_Frame_Del_p.176_180IFETI>I	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	271					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						GTTATTGACGATTGTTTCAAAAATGTTCAGAG	0.396																																						uc002jfc.2		NaN																	0					0						c.(811-825)ATTTTTGAAACAATC>ATC		guanine nucleotide binding protein (G protein),																																				SO:0001651	inframe_deletion	10672				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	g.chr17:63010685_63010696delATTGTTTCAAAA	L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.813_824delTTTTGAAACAAT	17.37:g.63010685_63010696delATTGTTTCAAAA	ENSP00000400717:p.Ile271_Thr274del					GNA13_uc010wqh.1_In_Frame_Del_p.176_180IFETI>I	p.271_275IFETI>I	NM_006572	NP_006563	Q14344	GNA13_HUMAN			4	1022_1033	-			271_275					B2R977|B7Z7R0|F5H1G8|Q8TD70	In_Frame_Del	DEL	ENST00000439174.2	37	c.813_824delTTTTGAAACAAT	CCDS11661.1																																																																																				0.396	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1		NM_006572		12	205	NaN	NaN	NaN	NaN	NaN	12	205	---	---
ZNF574	64763	broad.mit.edu	37	19	42584313	42584319	+	Frame_Shift_Del	DEL	GGGGAGC	GGGGAGC	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr19:42584313_42584319delGGGGAGC	ENST00000600245.1	+	2	2210_2216	c.1555_1561delGGGGAGC	c.(1555-1563)ggggagcggfs	p.GER519fs	ZNF574_ENST00000222339.7_Frame_Shift_Del_p.GER609fs|ZNF574_ENST00000359044.4_Frame_Shift_Del_p.GER519fs|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CACACACACAGGGGAGCGGCCCTTCCC	0.609																																						uc002osm.3		NaN																	0					0						c.(1555-1563)GGGGAGCGGfs		zinc finger protein 574																																				SO:0001589	frameshift_variant	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42584313_42584319delGGGGAGC	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1555_1561delGGGGAGC	19.37:g.42584313_42584319delGGGGAGC	ENSP00000469029:p.Gly519fs					ZNF574_uc002osk.3_Frame_Shift_Del_p.G609fs	p.G519fs	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN			2	1724_1730	+		Prostate(69;0.059)	519_521					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Frame_Shift_Del	DEL	ENST00000600245.1	37	c.1555_1561delGGGGAGC	CCDS12596.1																																																																																				0.609	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1		NM_022752		15	786	NaN	NaN	NaN	NaN	NaN	15	786	---	---
SLMO2	51012	broad.mit.edu	37	20	57613514	57613526	+	Splice_Site	DEL	CACTTACAGACTT	CACTTACAGACTT	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr20:57613514_57613526delCACTTACAGACTT	ENST00000355937.4	-	2	374_380	c.196_202delAAGTCTGTAAGTG	c.(196-204)aagtctgta>ta	p.KSV66fs	SLMO2_ENST00000371033.5_Splice_Site_p.KSV66fs	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	66	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				phospholipid transport (GO:0015914)	mitochondrial intermembrane space (GO:0005758)	phosphatidic acid transporter activity (GO:1990050)			endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			AATAAAGACACACTTACAGACTTCACAATGGAA	0.437																																						uc002yam.2		NaN																	0				skin(1)	1						c.e2+1		slowmo homolog 2																																				SO:0001630	splice_region_variant	51012							g.chr20:57613514_57613526delCACTTACAGACTT	AF151865	CCDS42893.1, CCDS58783.1	20q13.32	2008-10-22	2007-02-06	2007-02-06	ENSG00000101166	ENSG00000101166			15892	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 45"""	C20orf45			Standard	NM_016045		Approved	dJ543J19.5, PRELID3B	uc002yam.3	Q9Y3B1	OTTHUMG00000032856	ENST00000355937.4:c.201+1AAGTCTGTAAGTG>-	20.37:g.57613514_57613526delCACTTACAGACTT						SLMO2_uc010zzv.1_Splice_Site_p.S67_splice	p.S67_splice	NM_016045	NP_057129	Q9Y3B1	SLMO2_HUMAN	Colorectal(105;0.109)		2	317	-	all_lung(29;0.00711)							E1P5I8|Q5JX17|Q9NUL0	Splice_Site	DEL	ENST00000355937.4	37	c.201_splice	CCDS42893.1																																																																																				0.437	SLMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079897.2		NM_016045	Frame_Shift_Del	20	200	NaN	NaN	NaN	NaN	NaN	20	200	---	---
AP1B1	162	broad.mit.edu	37	22	29745198	29745206	+	Splice_Site	DEL	CTGGCTCAC	CTGGCTCAC	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr22:29745198_29745206delCTGGCTCAC	ENST00000405198.1	-	10	1469		c.e10+1		AP1B1_ENST00000317368.7_Splice_Site|AP1B1_ENST00000356015.2_Splice_Site|AP1B1_ENST00000402502.1_Splice_Site|AP1B1_ENST00000357586.2_Splice_Site|AP1B1_ENST00000432560.2_Splice_Site|AP1B1_ENST00000415447.1_Splice_Site			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGCCAGCTCGCTGGCTCACCTGTGTGCTC	0.584																																						uc003afj.2		NaN																	0				ovary(1)|skin(1)	2						c.e11+1		adaptor-related protein complex 1 beta 1 subunit																																				SO:0001630	splice_region_variant	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29745198_29745206delCTGGCTCAC	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.1437+1GTGAGCCAG>-	22.37:g.29745198_29745206delCTGGCTCAC						AP1B1_uc003afi.2_Splice_Site_p.Q479_splice|AP1B1_uc003afk.2_Splice_Site_p.Q479_splice|AP1B1_uc003afl.2_Splice_Site_p.Q479_splice|AP1B1_uc011ako.1_Splice_Site_p.Q32_splice	p.Q479_splice	NM_001127	NP_001118	Q10567	AP1B1_HUMAN			11	1621	-								C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Splice_Site	DEL	ENST00000405198.1	37	c.1437_splice	CCDS13855.1																																																																																				0.584	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1		NM_001127	Intron	12	107	NaN	NaN	NaN	NaN	NaN	12	107	---	---
MECOM	2122	broad.mit.edu	37	3	168833343	168833348	+	In_Frame_Del	DEL	GGGGCT	GGGGCT	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr3:168833343_168833348delGGGGCT	ENST00000464456.1	-	7	2948_2953	c.1748_1753delAGCCCC	c.(1747-1755)cagcccctg>ctg	p.QP583del	MECOM_ENST00000460814.1_In_Frame_Del_p.QP583del|MECOM_ENST00000392736.3_In_Frame_Del_p.QP583del|MECOM_ENST00000468789.1_In_Frame_Del_p.QP583del|MECOM_ENST00000494292.1_In_Frame_Del_p.QP771del|MECOM_ENST00000433243.2_In_Frame_Del_p.QP584del|MECOM_ENST00000472280.1_In_Frame_Del_p.QP584del|MECOM_ENST00000264674.3_In_Frame_Del_p.QP648del	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTTAGATCCAGGGGCTGGTCTTGGCT	0.534																																						uc003ffi.3		NaN																	0				lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(1747-1755)CAGCCCCTG>CTG		MDS1 and EVI1 complex locus isoform b																																				SO:0001651	inframe_deletion	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168833343_168833348delGGGGCT	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1748_1753delAGCCCC	3.37:g.168833343_168833348delGGGGCT	ENSP00000419770:p.Gln583_Pro584del					MECOM_uc010hwk.1_In_Frame_Del_p.QP606del|MECOM_uc003ffj.3_In_Frame_Del_p.QP648del|MECOM_uc011bpi.1_In_Frame_Del_p.QP584del|MECOM_uc003ffn.3_In_Frame_Del_p.QP583del|MECOM_uc003ffk.2_In_Frame_Del_p.QP583del|MECOM_uc003ffl.2_In_Frame_Del_p.QP743del|MECOM_uc011bpj.1_In_Frame_Del_p.QP771del|MECOM_uc011bpk.1_In_Frame_Del_p.QP573del|MECOM_uc010hwn.2_In_Frame_Del_p.QP771del	p.QP583del	NM_005241	NP_005232	Q03112	EVI1_HUMAN			7	2017_2022	-			583_584			CTBP-binding motif 2 (By similarity).		Q13466|Q6FH90	In_Frame_Del	DEL	ENST00000464456.1	37	c.1748_1753delAGCCCC	CCDS54669.1																																																																																				0.534	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1		NM_005241, NM_004991		15	170	NaN	NaN	NaN	NaN	NaN	15	170	---	---
SLC22A4	6583	broad.mit.edu	37	5	131676327	131676327	+	Frame_Shift_Del	DEL	T	T	-	rs72552721		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:131676327delT	ENST00000200652.3	+	9	1688	c.1514delT	c.(1513-1515)cttfs	p.L505fs	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	505					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)	p.E509fs*1(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	ATCCTCACCCTTTTTTTCCCT	0.418																																						uc003kwq.2		NaN																	1	Insertion - Frameshift(1)		ovary(1)		0						c.(1513-1515)CTTfs		solute carrier family 22 member 4	L-Carnitine(DB00583)						222.0	206.0	211.0					5																	131676327		2203	4300	6503	SO:0001589	frameshift_variant	6583				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	g.chr5:131676327delT	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.1514delT	5.37:g.131676327delT	ENSP00000200652:p.Leu505fs					uc003kwr.3_Intron	p.L505fs	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1679	+		all_cancers(142;0.0752)|Breast(839;0.198)	505			Helical; Name=12; (Potential).		O14546	Frame_Shift_Del	DEL	ENST00000200652.3	37	c.1514delT	CCDS4153.1																																																																																				0.418	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1		NM_003059		8	267	NaN	NaN	NaN	NaN	NaN	8	267	---	---
PCDHGA7	56108	broad.mit.edu	37	5	140763792	140763792	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr5:140763792delG	ENST00000518325.1	+	1	1326	c.1326delG	c.(1324-1326)gtgfs	p.V442fs	PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	442	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATGCAGGTGGCAGACACCA	0.507																																						uc003lka.1		NaN																	0					0						c.(1324-1326)GTGfs		protocadherin gamma subfamily A, 7 isoform 1							65.0	70.0	68.0					5																	140763792		2026	4191	6217	SO:0001589	frameshift_variant	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140763792delG	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1326delG	5.37:g.140763792delG	ENSP00000430024:p.Val442fs					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Frame_Shift_Del_p.V442fs	p.V442fs	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1326	+			442			Cadherin 4.|Extracellular (Potential).		B2RN87|Q9Y5D0	Frame_Shift_Del	DEL	ENST00000518325.1	37	c.1326delG	CCDS54927.1																																																																																				0.507	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1		NM_018920		13	116	NaN	NaN	NaN	NaN	NaN	13	116	---	---
MDC1	9656	broad.mit.edu	37	6	30671304	30671305	+	Frame_Shift_Ins	INS	-	-	T	rs545354255		TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:30671304_30671305insT	ENST00000376406.3	-	11	6219_6220	c.5572_5573insA	c.(5572-5574)actfs	p.T1858fs	MDC1_ENST00000376405.2_Frame_Shift_Ins_p.T1594fs|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1858	Required for nuclear localization (NLS2).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TGGTTTTGGAGTCACGACATCC	0.505								Other conserved DNA damage response genes																														uc003nrg.3		NaN																	0				breast(2)|ovary(1)|kidney(1)	4						c.(5572-5574)ACTfs	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1																																				SO:0001589	frameshift_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30671304_30671305insT	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.5573dupA	6.37:g.30671305_30671305dupT	ENSP00000365588:p.Thr1858fs					MDC1_uc003nrf.3_Frame_Shift_Ins_p.T489fs	p.T1858fs	NM_014641	NP_055456	Q14676	MDC1_HUMAN			11	6012_6013	-			1858			Required for nuclear localization (NLS2).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Frame_Shift_Ins	INS	ENST00000376406.3	37	c.5572_5573insA	CCDS34384.1																																																																																				0.505	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1		NM_014641		223	167	NaN	NaN	NaN	NaN	NaN	223	167	---	---
CDKN1A	1026	broad.mit.edu	37	6	36651884	36651885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr6:36651884_36651885insG	ENST00000405375.1	+	2	241_242	c.6_7insG	c.(7-9)gaafs	p.E3fs	CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.E3fs|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.E37fs|CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.E3fs|CDKN1A_ENST00000478800.1_3'UTR	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	3					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						GCGCCATGTCAGAACCGGCTGG	0.629																																						uc003omm.3		NaN																	0				ovary(1)|breast(1)	2						c.(4-9)TCAGAAfs		cyclin-dependent kinase inhibitor 1A																																				SO:0001589	frameshift_variant	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.chr6:36651884_36651885insG	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.7dupG	6.37:g.36651885_36651885dupG	ENSP00000384849:p.Glu3fs					CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.S36fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.S2fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.S2fs	p.S2fs	NM_000389	NP_000380	P38936	CDN1A_HUMAN			2	128_129	+			2_3					Q14010|Q6FI05|Q9BUT4	Frame_Shift_Ins	INS	ENST00000405375.1	37	c.6_7insG	CCDS4824.1																																																																																				0.629	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1		NM_078467		18	18	NaN	NaN	NaN	NaN	NaN	18	18	---	---
GTF2I	2969	broad.mit.edu	37	7	74105441	74105469	+	Splice_Site	DEL	ATTGTAAGCATTGTATTTTTATCTTTTGC	ATTGTAAGCATTGTATTTTTATCTTTTGC	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:74105441_74105469delATTGTAAGCATTGTATTTTTATCTTTTGC	ENST00000324896.4	+	3	625_627	c.236_238delATTGTAAGCATTGTATTTTTATCTTTTGC	c.(235-240)tattgt>tgt	p.Y79fs	GTF2I_ENST00000353920.4_Splice_Site_p.Y79fs|GTF2I_ENST00000416070.1_Splice_Site_p.Y79fs|GTF2I_ENST00000443166.1_Splice_Site_p.Y79fs|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000346152.4_Splice_Site_p.Y79fs	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	79					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						TTTGTAAAATATTGTAAGCATTGTATTTTTATCTTTTGCATTTCATTAA	0.284																																						uc003uau.2		NaN																	0					0						c.e3+1		general transcription factor IIi isoform 1																																				SO:0001630	splice_region_variant	2969				negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:74105441_74105469delATTGTAAGCATTGTATTTTTATCTTTTGC	U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.238+1ATTGTAAGCATTGTATTTTTATCTTTTGC>-	7.37:g.74105441_74105469delATTGTAAGCATTGTATTTTTATCTTTTGC						GTF2I_uc003uat.2_Splice_Site_p.C80_splice|GTF2I_uc003uav.2_Splice_Site_p.C80_splice|GTF2I_uc003uaw.2_Splice_Site_p.C80_splice|GTF2I_uc003uay.2_Splice_Site_p.C80_splice|GTF2I_uc003uax.2_Splice_Site_p.C80_splice	p.C80_splice	NM_032999	NP_127492	P78347	GTF2I_HUMAN			3	608	+								O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Splice_Site	DEL	ENST00000324896.4	37	c.238_splice	CCDS5573.1																																																																																				0.284	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1		NM_032999	Frame_Shift_Del	8	98	NaN	NaN	NaN	NaN	NaN	8	98	---	---
PLXNA4	91584	broad.mit.edu	37	7	131825479	131825493	+	In_Frame_Del	DEL	CAGAGAGGCAGGCGT	CAGAGAGGCAGGCGT	-	rs374483138	byFrequency	TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr7:131825479_131825493delCAGAGAGGCAGGCGT	ENST00000359827.3	-	30	6265_6279	c.5303_5317delACGCCTGCCTCTCTG	c.(5302-5319)gacgcctgcctctctgtg>gtg	p.DACLS1768del	PLXNA4_ENST00000321063.4_In_Frame_Del_p.DACLS1768del			Q9HCM2	PLXA4_HUMAN	plexin A4	1768					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.C1770G(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGAGCCACCACAGAGAGGCAGGCGTCTGTGATGCT	0.558																																						uc003vra.3		NaN																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(5302-5319)GACGCCTGCCTCTCTGTG>GTG		plexin A4 isoform 1																																				SO:0001651	inframe_deletion	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131825479_131825493delCAGAGAGGCAGGCGT	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5303_5317delACGCCTGCCTCTCTG	7.37:g.131825479_131825493delCAGAGAGGCAGGCGT	ENSP00000352882:p.Asp1768_Ser1772del					PLXNA4_uc003vqz.3_In_Frame_Del_p.DACLS53del	p.DACLS1768del	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			30	5532_5546	-			1768_1772			Cytoplasmic (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	In_Frame_Del	DEL	ENST00000359827.3	37	c.5303_5317delACGCCTGCCTCTCTG	CCDS43646.1																																																																																				0.558	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2		NM_181775		15	195	NaN	NaN	NaN	NaN	NaN	15	195	---	---
FNTA	2339	broad.mit.edu	37	8	42911569	42911570	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr8:42911569_42911570insC	ENST00000302279.3	+	1	274_275	c.80_81insC	c.(79-84)cacccafs	p.HP27fs	FNTA_ENST00000342116.4_Frame_Shift_Ins_p.HP27fs|FNTA_ENST00000529687.1_5'Flank|RP11-598P20.5_ENST00000534420.1_Intron|FNTA_ENST00000524546.1_3'UTR	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	27	Pro-rich.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CCCCAGCCGCACCCACCGCCGC	0.748																																						uc003xps.2		NaN																	0				ovary(1)	1						c.(79-81)CACfs		farnesyltransferase, CAAX box, alpha isoform a																																				SO:0001589	frameshift_variant	2339				cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity	g.chr8:42911569_42911570insC	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"""Prenyltransferase alpha subunit repeat containing"""	3782	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 2"""	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.83dupC	8.37:g.42911572_42911572dupC	ENSP00000303423:p.His27fs					FNTA_uc003xpt.2_5'UTR|FNTA_uc003xpu.2_Frame_Shift_Ins_p.H27fs|FNTA_uc003xpv.2_RNA	p.H27fs	NM_002027	NP_002018	P49354	FNTA_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		1	128_129	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	27			Pro-rich.		A6NJW0|Q53XJ9|Q9UDC1	Frame_Shift_Ins	INS	ENST00000302279.3	37	c.80_81insC	CCDS6140.1																																																																																				0.748	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1		NM_002027		5	4	NaN	NaN	NaN	NaN	NaN	5	4	---	---
TSC1	7248	broad.mit.edu	37	9	135802666	135802666	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A42C-01A-11D-A23M-08	TCGA-BT-A42C-10A-01D-A23K-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	ecdb39bc-f59d-4b7e-8541-985acea634f9	109c7ef3-fe4f-4d2a-8dc1-7ed3ba4735b2	g.chr9:135802666delG	ENST00000298552.3	-	4	353	c.132delC	c.(130-132)accfs	p.T44fs	TSC1_ENST00000403810.1_Frame_Shift_Del_p.T44fs|TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000440111.2_Frame_Shift_Del_p.T44fs|TSC1_ENST00000545250.1_Frame_Shift_Del_p.T44fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	44					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)			NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		AATCCACCAAGGTGTTTACAA	0.448			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc004cca.2		NaN	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	D|Mis|N|F|S	tuberous sclerosis 1 gene			"""E, O"""		hamartoma|renal cell			0				lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14						c.(130-132)ACCfs		tuberous sclerosis 1 protein isoform 1							137.0	114.0	122.0					9																	135802666		2203	4300	6503	SO:0001589	frameshift_variant	7248	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135802666delG	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.132delC	9.37:g.135802666delG	ENSP00000298552:p.Thr44fs					TSC1_uc004ccb.3_Frame_Shift_Del_p.T44fs|TSC1_uc011mcq.1_Frame_Shift_Del_p.T44fs|TSC1_uc011mcr.1_Intron|TSC1_uc011mcs.1_Intron|TSC1_uc004ccc.1_Frame_Shift_Del_p.T44fs|TSC1_uc004ccd.2_Frame_Shift_Del_p.T44fs|TSC1_uc004cce.1_Frame_Shift_Del_p.T44fs	p.T44fs	NM_000368	NP_000359	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	4	366	-			44					B7Z897|Q5VVN5	Frame_Shift_Del	DEL	ENST00000298552.3	37	c.132delC	CCDS6956.1																																																																																				0.448	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1				33	13	NaN	NaN	NaN	NaN	NaN	33	13	---	---
