#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
VPS13D	55187	broad.mit.edu	37	1	12414081	12414081	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:12414081A>G	ENST00000358136.3	+	47	9612	c.9482A>G	c.(9481-9483)aAc>aGc	p.N3161S	VPS13D_ENST00000356315.4_Missense_Mutation_p.N3136S	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATGCCCTCAAACATATTTTCT	0.363																																						uc001atv.2																			0				ovary(4)|pancreas(1)	5						c.(9481-9483)AAC>AGC		vacuolar protein sorting 13D isoform 1							90.0	84.0	86.0					1																	12414081		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12414081A>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9482A>G	1.37:g.12414081A>G	ENSP00000350854:p.Asn3161Ser					VPS13D_uc001atw.2_Missense_Mutation_p.N3136S|VPS13D_uc001atx.2_Missense_Mutation_p.N2348S	p.N3161S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	47	9623	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3160						Missense_Mutation	SNP	ENST00000358136.3	37	c.9482A>G	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.067|8.067	0.769488|0.769488	0.15983|0.15983	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.52295|.	0.67;0.68|.	5.86|5.86	2.34|2.34	0.29019|0.29019	.|.	0.221820|.	0.52532|.	N|.	0.000068|.	T|T	0.35799|0.35799	0.0944|0.0944	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B;B|.	0.10296|.	0.003;0.0|.	B;B|.	0.06405|.	0.002;0.001|.	T|T	0.04467|0.04467	-1.0949|-1.0949	10|5	0.08179|.	T|.	0.78|.	.|.	8.8293|8.8293	0.35074|0.35074	0.6505:0.0:0.3495:0.0|0.6505:0.0:0.3495:0.0	.|.	3136;3160|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	S|A	3136;3161|1983	ENSP00000348666:N3136S;ENSP00000350854:N3161S|.	ENSP00000348666:N3136S|.	N|T	+|+	2|1	0|0	VPS13D|VPS13D	12336668|12336668	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	2.968000|2.968000	0.49224|0.49224	0.217000|0.217000	0.20800|0.20800	0.528000|0.528000	0.53228|0.53228	AAC|ACA		0.363	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	
HSPB7	27129	broad.mit.edu	37	1	16342135	16342135	+	Silent	SNP	T	T	C			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:16342135T>C	ENST00000311890.9	-	3	1279	c.453A>G	c.(451-453)gcA>gcG	p.A151A	HSPB7_ENST00000375718.4_Silent_p.A226A|HSPB7_ENST00000406363.2_Silent_p.A155A|HSPB7_ENST00000487046.1_Silent_p.A156A|HSPB7_ENST00000411503.1_Silent_p.A146A	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	151					regulation of heart contraction (GO:0008016)|response to unfolded protein (GO:0006986)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGACGCCGTGCCCGGATAG	0.642																																						uc001axo.2																			0					0						c.(451-453)GCA>GCG		cardiovascular heat shock protein							108.0	87.0	94.0					1																	16342135		2203	4300	6503	SO:0001819	synonymous_variant	27129				regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding	g.chr1:16342135T>C	AF155908	CCDS30611.1	1p36.23-p34.3	2011-09-02	2002-08-29		ENSG00000173641	ENSG00000173641		"""Heat shock proteins / HSPB"""	5249	protein-coding gene	gene with protein product		610692	"""heat shock 27kD protein family, member 7 (cardiovascular)"""			10593960	Standard	NM_014424		Approved	cvHSP	uc001axo.2	Q9UBY9	OTTHUMG00000009531	ENST00000311890.9:c.453A>G	1.37:g.16342135T>C						HSPB7_uc001axp.2_Silent_p.A234A|HSPB7_uc001axq.2_Silent_p.A243A|HSPB7_uc001axr.2_Silent_p.A244A|HSPB7_uc001axs.2_Silent_p.A226A	p.A151A	NM_014424	NP_055239	Q9UBY9	HSPB7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)	3	1280	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	151					B3KQ37|C9K0Y0|Q9NU17	Silent	SNP	ENST00000311890.9	37	c.453A>G	CCDS30611.1																																																																																				0.642	HSPB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026334.2	NM_014424	
EPHA8	2046	broad.mit.edu	37	1	22927421	22927421	+	Silent	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:22927421C>T	ENST00000166244.3	+	15	2641	c.2569C>T	c.(2569-2571)Ctg>Ttg	p.L857L		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	857	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGGGTACCGCCTGCCCGCACC	0.697																																						uc001bfx.1																			0				central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(2569-2571)CTG>TTG		ephrin receptor EphA8 isoform 1 precursor							46.0	49.0	48.0					1																	22927421		2203	4297	6500	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22927421C>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2569C>T	1.37:g.22927421C>T							p.L857L	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	15	2694	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	857			Cytoplasmic (Potential).|Protein kinase.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.2569C>T	CCDS225.1																																																																																				0.697	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526	
PHACTR4	65979	broad.mit.edu	37	1	28818258	28818258	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:28818258C>T	ENST00000373839.3	+	12	2236	c.1975C>T	c.(1975-1977)Cga>Tga	p.R659*	PHACTR4_ENST00000373836.3_Nonsense_Mutation_p.R669*|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	659					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TTATGACCGGCGAGCCGACAA	0.453																																						uc001bpw.2																			0					0						c.(1975-1977)CGA>TGA		phosphatase and actin regulator 4 isoform 1							73.0	80.0	78.0					1																	28818258		1914	4133	6047	SO:0001587	stop_gained	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28818258C>T	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1975C>T	1.37:g.28818258C>T	ENSP00000362945:p.Arg659*					PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Nonsense_Mutation_p.R643*|PHACTR4_uc001bpy.2_Nonsense_Mutation_p.R669*|PHACTR4_uc001bpz.2_RNA	p.R659*	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	12	2257	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	659					A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Nonsense_Mutation	SNP	ENST00000373839.3	37	c.1975C>T	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	C	39	7.609819	0.98387	.	.	ENSG00000204138	ENST00000373839;ENST00000373836	.	.	.	5.77	1.47	0.22746	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.445	9.5907	0.39543	0.5237:0.4078:0.0:0.0686	.	.	.	.	X	659;669	.	ENSP00000362942:R669X	R	+	1	2	PHACTR4	28690845	0.259000	0.24043	0.985000	0.45067	0.996000	0.88848	0.270000	0.18607	0.333000	0.23563	0.558000	0.71614	CGA		0.453	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923	
IPP	3652	broad.mit.edu	37	1	46165793	46165793	+	Missense_Mutation	SNP	G	G	C	rs147854966		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:46165793G>C	ENST00000396478.3	-	9	1702	c.1600C>G	c.(1600-1602)Ctt>Gtt	p.L534V	IPP_ENST00000495072.1_5'UTR	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	534						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					ACATACAGAAGACCATTGACT	0.423																																						uc001cou.2																			0				ovary(1)	1						c.(1600-1602)CTT>GTT		intracisternal A particle-promoted polypeptide							140.0	141.0	141.0					1																	46165793		2203	4300	6503	SO:0001583	missense	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46165793G>C	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1600C>G	1.37:g.46165793G>C	ENSP00000379739:p.Leu534Val					IPP_uc001cos.3_Missense_Mutation_p.L534V	p.L534V	NM_005897	NP_005888	Q9Y573	IPP_HUMAN			9	1867	-	Acute lymphoblastic leukemia(166;0.155)		534					A2A6V4|D3DQ11|Q8N5C3	Missense_Mutation	SNP	ENST00000396478.3	37	c.1600C>G	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534090	0.64972	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	T;T	0.77620	-0.22;-1.11	5.87	5.87	0.94306	Galactose oxidase, beta-propeller (1);	0.117788	0.64402	D	0.000017	T	0.74473	0.3721	L	0.58583	1.82	0.51012	D	0.9999	B;P	0.37233	0.062;0.588	B;B	0.35813	0.11;0.211	T	0.74131	-0.3764	10	0.39692	T	0.17	.	15.362	0.74483	0.0683:0.0:0.9317:0.0	.	534;534	Q9Y573;A2A6V3	IPP_HUMAN;.	V	534	ENSP00000353024:L534V;ENSP00000379739:L534V	ENSP00000353024:L534V	L	-	1	0	IPP	45938380	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.260000	0.58835	2.785000	0.95823	0.591000	0.81541	CTT		0.423	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897	
GADD45A	1647	broad.mit.edu	37	1	68152267	68152267	+	Silent	SNP	G	G	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:68152267G>T	ENST00000370986.4	+	3	815	c.381G>T	c.(379-381)gtG>gtT	p.V127V	GADD45A_ENST00000460575.1_3'UTR|GADD45A_ENST00000370985.3_Silent_p.V93V	NM_001924.3	NP_001915.1	P24522	GA45A_HUMAN	growth arrest and DNA-damage-inducible, alpha	127					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|signal transduction in response to DNA damage (GO:0042770)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter binding (GO:0001047)			lung(2)|ovary(2)	4						GCGTGCTGGTGACGGTAAGGG	0.706																																						uc001ddz.1																			0				ovary(1)	1						c.(379-381)GTG>GTT		growth arrest and DNA-damage-inducible, alpha							10.0	12.0	12.0					1																	68152267		2167	4260	6427	SO:0001819	synonymous_variant	1647				apoptosis|cell cycle arrest|cellular response to ionizing radiation|cellular response to mechanical stimulus|DNA repair|positive regulation of reactive oxygen species metabolic process|regulation of cyclin-dependent protein kinase activity|signal transduction in response to DNA damage	nucleus	protein binding	g.chr1:68152267G>T	M60974	CCDS640.1, CCDS55605.1, CCDS72806.1	1p31.2	2010-08-27			ENSG00000116717	ENSG00000116717			4095	protein-coding gene	gene with protein product		126335		DDIT1		1990262, 8226988	Standard	NM_001924		Approved	GADD45	uc001ddz.2	P24522	OTTHUMG00000009374	ENST00000370986.4:c.381G>T	1.37:g.68152267G>T						GADD45A_uc009wbb.1_Silent_p.V93V|GADD45A_uc009wbc.1_Intron|GADD45A_uc009wbd.1_Intron	p.V127V	NM_001924	NP_001915	P24522	GA45A_HUMAN			3	676	+			127					Q5TCA7|Q5TCA8	Silent	SNP	ENST00000370986.4	37	c.381G>T	CCDS640.1																																																																																				0.706	GADD45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025988.2	NM_001924	
ABCA4	24	broad.mit.edu	37	1	94522271	94522271	+	Silent	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:94522271G>A	ENST00000370225.3	-	15	2354	c.2268C>T	c.(2266-2268)tcC>tcT	p.S756S	ABCA4_ENST00000535735.1_Intron	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	756					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GACTGGCCTTGGAGAAGAAGG	0.542																																						uc001dqh.2																			0				ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(2266-2268)TCC>TCT		ATP-binding cassette, sub-family A member 4							94.0	85.0	88.0					1																	94522271		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94522271G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2268C>T	1.37:g.94522271G>A						ABCA4_uc010otn.1_Intron	p.S756S	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	15	2372	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	756					O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.2268C>T	CCDS747.1																																																																																				0.542	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	
CGN	57530	broad.mit.edu	37	1	151491406	151491406	+	Silent	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:151491406C>T	ENST00000271636.7	+	2	544	c.411C>T	c.(409-411)tcC>tcT	p.S137S		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	131	Head.|Interacts with ZO-2.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTTCCCACTCCCAGGCCTCAC	0.592																																						uc009wmw.2																			0				ovary(2)|pancreas(1)	3						c.(409-411)TCC>TCT		cingulin							45.0	45.0	45.0					1																	151491406		2203	4300	6503	SO:0001819	synonymous_variant	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151491406C>T	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.411C>T	1.37:g.151491406C>T							p.S137S	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	555	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		131			Interacts with ZO-2.|Head.		A6H8L3|A7MD22|Q5T386|Q9NR25	Silent	SNP	ENST00000271636.7	37	c.411C>T	CCDS999.1																																																																																				0.592	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770	
S100A14	57402	broad.mit.edu	37	1	153587428	153587428	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:153587428C>G	ENST00000368702.1	-	5	520	c.248G>C	c.(247-249)aGt>aCt	p.S83T	S100A14_ENST00000476873.1_Missense_Mutation_p.S83T|S100A14_ENST00000368700.3_5'UTR|S100A16_ENST00000474991.1_5'Flank|S100A14_ENST00000344616.2_Missense_Mutation_p.S83T|S100A16_ENST00000368706.4_5'Flank|S100A14_ENST00000368701.1_Missense_Mutation_p.S83T			Q9HCY8	S10AE_HUMAN	S100 calcium binding protein A14	83					apoptotic process (GO:0006915)|calcium ion homeostasis (GO:0055074)|defense response to bacterium (GO:0042742)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)	extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|chemokine receptor binding (GO:0042379)			kidney(2)|large_intestine(1)|lung(1)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCCCAGAAACTCCTGAACTC	0.557																																						uc001fce.2																			0					0						c.(247-249)AGT>ACT		S100 calcium binding protein A14							73.0	74.0	74.0					1																	153587428		2203	4300	6503	SO:0001583	missense	57402				calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway	cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm	calcium ion binding|chemokine receptor binding	g.chr1:153587428C>G	AY007220	CCDS1046.1	1q21.1	2008-02-05			ENSG00000189334	ENSG00000189334		"""S100 calcium binding proteins"""	18901	protein-coding gene	gene with protein product		607986				11944983	Standard	NM_020672		Approved	S100A15, BCMP84	uc001fce.3	Q9HCY8	OTTHUMG00000035030	ENST00000368702.1:c.248G>C	1.37:g.153587428C>G	ENSP00000357691:p.Ser83Thr					S100A16_uc001fcd.1_5'Flank	p.S83T	NM_020672	NP_065723	Q9HCY8	S10AE_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	346	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		83			2; high affinity (Potential).		Q5RHT0	Missense_Mutation	SNP	ENST00000368702.1	37	c.248G>C	CCDS1046.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253504	0.39797	.	.	ENSG00000189334	ENST00000476873;ENST00000368701;ENST00000368702;ENST00000344616	T;T;T;T	0.06449	3.3;3.3;3.3;3.3	4.86	2.92	0.33932	EF-hand-like domain (1);	0.296997	0.36134	N	0.002766	T	0.02380	0.0073	L	0.44542	1.39	0.24378	N	0.99481	B	0.02656	0.0	B	0.04013	0.001	T	0.38993	-0.9635	10	0.87932	D	0	-12.0754	11.391	0.49815	0.0:0.6486:0.3514:0.0	.	83	Q9HCY8	S10AE_HUMAN	T	83	ENSP00000420296:S83T;ENSP00000357690:S83T;ENSP00000357691:S83T;ENSP00000340463:S83T	ENSP00000340463:S83T	S	-	2	0	S100A14	151854052	0.054000	0.20591	0.582000	0.28627	0.862000	0.49288	0.459000	0.21908	0.595000	0.29777	0.609000	0.83330	AGT		0.557	S100A14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084788.2	NM_020672	
NUP210L	91181	broad.mit.edu	37	1	153973356	153973356	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:153973356C>A	ENST00000368559.3	-	37	5433	c.5362G>T	c.(5362-5364)Gct>Tct	p.A1788S	NUP210L_ENST00000271854.3_Intron|NUP210L_ENST00000368553.1_Intron|U3_ENST00000516860.1_RNA	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1788					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TCTTTCATAGCCCTCACTACC	0.408																																						uc001fdw.2																			0				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(5362-5364)GCT>TCT		nucleoporin 210kDa-like isoform 1							176.0	169.0	171.0					1																	153973356		1977	4157	6134	SO:0001583	missense	91181					integral to membrane		g.chr1:153973356C>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.5362G>T	1.37:g.153973356C>A	ENSP00000357547:p.Ala1788Ser					NUP210L_uc009woq.2_Missense_Mutation_p.A697S|NUP210L_uc010peh.1_Intron	p.A1788S	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		37	5434	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1788					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.5362G>T	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914813	0.33815	.	.	ENSG00000143552	ENST00000368559	T	0.05199	3.48	5.47	5.47	0.80525	.	0.102624	0.42964	D	0.000622	T	0.03959	0.0111	L	0.47716	1.5	0.80722	D	1	P	0.34562	0.457	B	0.34038	0.174	T	0.45629	-0.9248	10	0.32370	T	0.25	-36.3897	17.093	0.86627	0.0:1.0:0.0:0.0	.	1788	Q5VU65	P210L_HUMAN	S	1788	ENSP00000357547:A1788S	ENSP00000357547:A1788S	A	-	1	0	NUP210L	152239980	0.997000	0.39634	0.985000	0.45067	0.610000	0.37248	2.815000	0.48018	2.567000	0.86603	0.484000	0.47621	GCT		0.408	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308	
PYHIN1	149628	broad.mit.edu	37	1	158914677	158914677	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:158914677A>G	ENST00000368140.1	+	7	1449	c.1204A>G	c.(1204-1206)Aca>Gca	p.T402A	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Missense_Mutation_p.T393A|PYHIN1_ENST00000392254.2_Missense_Mutation_p.T402A|PYHIN1_ENST00000392252.3_Missense_Mutation_p.T393A	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	402					cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					ACAGAAAAATACAAACCAGAG	0.373																																						uc001ftb.2																			0				ovary(3)|pancreas(1)	4						c.(1204-1206)ACA>GCA		pyrin and HIN domain family, member 1 alpha 1							56.0	56.0	56.0					1																	158914677		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158914677A>G	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1204A>G	1.37:g.158914677A>G	ENSP00000357122:p.Thr402Ala					PYHIN1_uc001ftc.2_Missense_Mutation_p.T393A|PYHIN1_uc001ftd.2_Missense_Mutation_p.T402A|PYHIN1_uc001fte.2_Missense_Mutation_p.T393A	p.T402A	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN			7	1449	+	all_hematologic(112;0.0378)		402					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.1204A>G	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.577774	0.00879	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.05717	3.45;3.4;3.43;3.42	2.32	-4.64	0.03349	Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.00906	0.0030	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.28258	0.205;0.205;0.205;0.13	B;B;B;B	0.26770	0.073;0.046;0.073;0.021	T	0.44997	-0.9291	9	0.40728	T	0.16	.	0.8064	0.01084	0.1816:0.3062:0.1358:0.3764	.	393;402;393;402	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	A	402;393;402;393	ENSP00000357122:T402A;ENSP00000357120:T393A;ENSP00000376083:T402A;ENSP00000376082:T393A	ENSP00000357120:T393A	T	+	1	0	PYHIN1	157181301	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.599000	0.05700	-1.775000	0.01287	-0.334000	0.08254	ACA		0.373	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501	
AXDND1	126859	broad.mit.edu	37	1	179364322	179364322	+	Missense_Mutation	SNP	C	C	T	rs367975765		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:179364322C>T	ENST00000367618.3	+	11	1481	c.1094C>T	c.(1093-1095)gCg>gTg	p.A365V	AXDND1_ENST00000457238.2_Missense_Mutation_p.A365V|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	365										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						CTTTTAAATGCGGAAAAGAAT	0.353																																						uc001gmo.2																			0					0						c.(1093-1095)GCG>GTG		hypothetical protein LOC126859 isoform 1		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	167.0	185.0	178.0		1094	4.8	1.0	1		178	1,8599	1.2+/-3.3	0,1,4299	no	missense	AXDND1	NM_144696.4	64	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	365/1013	179364322	2,13004	2203	4300	6503	SO:0001583	missense	126859							g.chr1:179364322C>T	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1094C>T	1.37:g.179364322C>T	ENSP00000356590:p.Ala365Val					C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Missense_Mutation_p.A153V|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.A365V	p.A365V	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN			11	1221	+			365			Potential.		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.1094C>T	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994154	0.74703	2.27E-4	1.16E-4	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.54479	1.83;0.57;1.85	5.65	4.75	0.60458	.	0.513848	0.22242	N	0.062675	T	0.64136	0.2571	L	0.46157	1.445	0.28721	N	0.903017	D;D;P	0.89917	1.0;0.999;0.774	D;D;B	0.75020	0.985;0.952;0.066	T	0.60084	-0.7332	10	0.44086	T	0.13	-11.1647	12.6786	0.56908	0.0:0.9198:0.0:0.0802	.	323;365;365	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	V	365;323;365;299	ENSP00000356590:A365V;ENSP00000416712:A365V;ENSP00000391716:A299V	ENSP00000353471:A323V	A	+	2	0	AXDND1	177630945	0.998000	0.40836	0.996000	0.52242	0.970000	0.65996	5.435000	0.66532	1.395000	0.46643	-0.122000	0.15005	GCG		0.353	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696	
HMCN1	83872	broad.mit.edu	37	1	186134268	186134268	+	Silent	SNP	C	C	T	rs371625429		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:186134268C>T	ENST00000271588.4	+	98	15511	c.15282C>T	c.(15280-15282)tcC>tcT	p.S5094S	HMCN1_ENST00000367492.2_Silent_p.S5094S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5094					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						AGTGCCCCTCCGGGTTTACCT	0.408																																						uc001grq.1																			0				ovary(22)|skin(1)	23						c.(15280-15282)TCC>TCT		hemicentin 1 precursor							167.0	164.0	165.0					1																	186134268		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186134268C>T	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.15282C>T	1.37:g.186134268C>T						HMCN1_uc001grs.1_Silent_p.S663S	p.S5094S	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			98	15511	+			5094					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.15282C>T	CCDS30956.1																																																																																				0.408	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
FCAMR	83953	broad.mit.edu	37	1	207140441	207140441	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:207140441G>A	ENST00000324852.4	-	3	599	c.125C>T	c.(124-126)gCg>gTg	p.A42V	FCAMR_ENST00000450945.2_Missense_Mutation_p.A42V|FCAMR_ENST00000400962.3_Missense_Mutation_p.A42V	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	341					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TTTCCATCCCGCCCTCCTGCT	0.527																																					Ovarian(199;1883 2142 16966 44409 45154)	uc001hfa.3																			0				ovary(1)	1						c.(124-126)GCG>GTG		Fc receptor, IgA, IgM, high affinity isoform 2							66.0	59.0	61.0					1																	207140441		1568	3582	5150	SO:0001583	missense	83953					integral to membrane|plasma membrane	receptor activity	g.chr1:207140441G>A	AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.125C>T	1.37:g.207140441G>A	ENSP00000316491:p.Ala42Val					FCAMR_uc001hfb.2_Missense_Mutation_p.A42V|FCAMR_uc009xca.1_Missense_Mutation_p.A42V|FCAMR_uc001hfc.2_Intron	p.A42V	NM_001122980	NP_001116452	Q8WWV6	FCAMR_HUMAN			3	625	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	ENST00000324852.4	37	c.125C>T	CCDS53468.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553845	0.65425	.	.	ENSG00000162897	ENST00000400962;ENST00000324852;ENST00000450945	T;T;T	0.10960	2.82;3.18;2.82	5.35	4.44	0.53790	.	.	.	.	.	T	0.16811	0.0404	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.08534	-1.0717	6	0.66056	D	0.02	.	9.9263	0.41494	0.094:0.0:0.906:0.0	.	.	.	.	V	42	ENSP00000383746:A42V;ENSP00000316491:A42V;ENSP00000392707:A42V	ENSP00000316491:A42V	A	-	2	0	FCAMR	205207064	0.533000	0.26354	0.013000	0.15412	0.012000	0.07955	2.878000	0.48515	1.262000	0.44165	0.655000	0.94253	GCG		0.527	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	NM_032029	
USH2A	7399	broad.mit.edu	37	1	215848243	215848243	+	Missense_Mutation	SNP	G	G	A	rs527236137		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:215848243G>A	ENST00000307340.3	-	63	13396	c.13010C>T	c.(13009-13011)aCg>aTg	p.T4337M	USH2A_ENST00000366943.2_Missense_Mutation_p.T4337M	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4337	Fibronectin type-III 28. {ECO:0000255|PROSITE-ProRule:PRU00316}.		T -> M (in USH2A). {ECO:0000269|PubMed:17085681}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCTCCACTCGTGCAGGCTTG	0.498										HNSCC(13;0.011)																												uc001hku.1																			0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	GRCh37	CM065508	USH2A	M		c.(13009-13011)ACG>ATG		usherin isoform B							78.0	77.0	77.0					1																	215848243		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215848243G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13010C>T	1.37:g.215848243G>A	ENSP00000305941:p.Thr4337Met	HNSCC(13;0.011)					p.T4337M	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13397	-			4337		T -> M (in USH2A).	Fibronectin type-III 28.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.13010C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569930	0.86542	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.58940	0.41;0.3	5.12	5.12	0.69794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.163742	0.28176	U	0.016305	T	0.82208	0.4987	M	0.92077	3.27	0.58432	D	0.999992	D	0.89917	1.0	D	0.75484	0.986	D	0.86978	0.2102	10	0.87932	D	0	.	18.5712	0.91136	0.0:0.0:1.0:0.0	.	4337	O75445	USH2A_HUMAN	M	4337	ENSP00000305941:T4337M;ENSP00000355910:T4337M	ENSP00000305941:T4337M	T	-	2	0	USH2A	213914866	1.000000	0.71417	0.907000	0.35723	0.976000	0.68499	7.655000	0.83696	2.384000	0.81235	0.467000	0.42956	ACG		0.498	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	216538373	216538373	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:216538373G>A	ENST00000307340.3	-	4	1092	c.706C>T	c.(706-708)Cct>Tct	p.P236S	USH2A_ENST00000366943.2_Missense_Mutation_p.P236S|USH2A_ENST00000366942.3_Missense_Mutation_p.P236S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	236					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCATTGAAAGGTGTATGATCC	0.353										HNSCC(13;0.011)																												uc001hku.1																			0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(706-708)CCT>TCT		usherin isoform B							136.0	127.0	130.0					1																	216538373		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216538373G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.706C>T	1.37:g.216538373G>A	ENSP00000305941:p.Pro236Ser	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.P236S	p.P236S	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	4	1093	-			236			Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.706C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733751	0.30684	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.61859	0.07;0.07;0.07	5.5	4.59	0.56863	Concanavalin A-like lectin/glucanase (1);LamG-like jellyroll fold (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.366689	0.19527	U	0.112135	T	0.55401	0.1918	L	0.42245	1.32	0.31556	N	0.658142	B;B	0.32753	0.383;0.101	B;B	0.37387	0.248;0.096	T	0.63629	-0.6594	10	0.52906	T	0.07	.	15.9907	0.80202	0.0:0.736:0.2639:0.0	.	236;236	O75445-2;O75445	.;USH2A_HUMAN	S	236	ENSP00000305941:P236S;ENSP00000355910:P236S;ENSP00000355909:P236S	ENSP00000305941:P236S	P	-	1	0	USH2A	214604996	0.928000	0.31464	0.303000	0.25071	0.709000	0.40893	1.765000	0.38481	1.316000	0.45131	-0.340000	0.08031	CCT		0.353	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
OR2T33	391195	broad.mit.edu	37	1	248436840	248436840	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:248436840C>T	ENST00000318021.2	-	1	298	c.277G>A	c.(277-279)Gct>Act	p.A93T		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	93						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(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCACAGCCAGCGCGGGAGATG	0.577																																						uc010pzi.1																			0				large_intestine(1)|ovary(1)	2						c.(277-279)GCT>ACT		olfactory receptor, family 2, subfamily T,																																				SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436840C>T		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.277G>A	1.37:g.248436840C>T	ENSP00000324687:p.Ala93Thr						p.A93T	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	277	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		93			Extracellular (Potential).		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.277G>A	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	0.985	-0.695697	0.03279	.	.	ENSG00000177212	ENST00000318021	T	0.00397	7.57	2.7	0.338	0.15974	GPCR, rhodopsin-like superfamily (1);	0.230385	0.21954	U	0.066696	T	0.00178	0.0005	L	0.35854	1.095	0.09310	N	1	P	0.39250	0.665	B	0.28139	0.086	T	0.43556	-0.9384	10	0.31617	T	0.26	.	2.9908	0.05982	0.0:0.3022:0.2351:0.4627	.	93	Q8NG76	O2T33_HUMAN	T	93	ENSP00000324687:A93T	ENSP00000324687:A93T	A	-	1	0	OR2T33	246503463	0.000000	0.05858	0.014000	0.15608	0.002000	0.02628	-2.218000	0.01219	0.399000	0.25367	0.494000	0.49563	GCT		0.577	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695	
GPRIN2	9721	broad.mit.edu	37	10	46999114	46999114	+	Silent	SNP	T	T	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr10:46999114T>G	ENST00000374317.1	+	3	507	c.234T>G	c.(232-234)tcT>tcG	p.S78S	GPRIN2_ENST00000374314.4_Silent_p.S78S	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	78										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CACGGGCCTCTGGCCCCAAGG	0.706																																						uc001jec.2																			0					0						c.(232-234)TCT>TCG		G protein-regulated inducer of neurite outgrowth							30.0	38.0	35.0					10																	46999114		2198	4290	6488	SO:0001819	synonymous_variant	9721							g.chr10:46999114T>G	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.234T>G	10.37:g.46999114T>G						GPRIN2_uc010qfq.1_5'Flank	p.S78S	NM_014696	NP_055511	O60269	GRIN2_HUMAN			3	369	+			78					Q5SVF0	Silent	SNP	ENST00000374317.1	37	c.234T>G	CCDS31192.1																																																																																				0.706	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696	
PTEN	5728	broad.mit.edu	37	10	89624265	89624267	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr10:89624265_89624267delAAG	ENST00000371953.3	+	1	1396_1398	c.39_41delAAG	c.(37-42)aaaagg>aag	p.R15del	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	15	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> S (in glioma). {ECO:0000269|PubMed:9090379}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(13)|p.R14G(2)|p.R14fs*29(1)|p.R14M(1)|p.I8_R14>LRLICIF(1)|p.R14fs*10(1)|p.K13del(1)|p.N12fs*6(1)|p.R14_D22del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCAGAAACAAAAGGAGATATCAA	0.488		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		59	Whole gene deletion(37)|Unknown(13)|Substitution - Missense(3)|Deletion - In frame(2)|Deletion - Frameshift(2)|Insertion - Frameshift(1)|Complex - compound substitution(1)	p.?(13)|p.0?(12)|p.R15I(4)|p.R15S(3)|p.R14G(2)|p.R14fs*29(1)|p.R15K(1)|p.R15fs*28(1)|p.I8_R14>LRLICIF(1)|p.R14fs*10(1)|p.R15fs*9(1)|p.K13del(1)|p.N12fs*6(1)|p.R14_D22del(1)	prostate(14)|central_nervous_system(11)|skin(7)|lung(6)|endometrium(4)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|bone(2)|breast(2)|biliary_tract(1)|vulva(1)|stomach(1)|soft_tissue(1)|large_intestine(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CI000626	PTEN	I		c.(37-42)AAAAGG>AAG		phosphatase and tensin homolog																																				SO:0001651	inframe_deletion	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89624265_89624267delAAG	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.39_41delAAG	10.37:g.89624265_89624267delAAG	ENSP00000361021:p.Arg15del	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				KILLIN_uc009xti.2_5'Flank	p.R15del	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	2	1070_1072	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	15		R -> S (in glioma).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	In_Frame_Del	DEL	ENST00000371953.3	37	c.39_41delAAG	CCDS31238.1																																																																																				0.488	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
CPT1A	1374	broad.mit.edu	37	11	68549243	68549243	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr11:68549243C>T	ENST00000265641.5	-	11	1502	c.1348G>A	c.(1348-1350)Gac>Aac	p.D450N	CPT1A_ENST00000540367.1_Missense_Mutation_p.D450N|CPT1A_ENST00000376618.2_Missense_Mutation_p.D450N|CPT1A_ENST00000539743.1_Missense_Mutation_p.D450N	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	450					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	CGGTACCTGTCGTAACATCGG	0.473																																						uc001oog.3																			0				skin(2)	2						c.(1348-1350)GAC>AAC		carnitine palmitoyltransferase 1A liver isoform	L-Carnitine(DB00583)|Perhexiline(DB01074)						309.0	247.0	268.0					11																	68549243		2200	4294	6494	SO:0001583	missense	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68549243C>T	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1348G>A	11.37:g.68549243C>T	ENSP00000265641:p.Asp450Asn					CPT1A_uc001oof.3_Missense_Mutation_p.D450N|CPT1A_uc009ysj.2_Intron	p.D450N	NM_001876	NP_001867	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		11	1518	-	Esophageal squamous(3;3.28e-14)		450			Cytoplasmic (Potential).		Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	c.1348G>A	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797341	0.31777	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.73885	0.3644	N	0.13371	0.34	0.80722	D	1	B;B	0.32573	0.376;0.042	B;B	0.34931	0.192;0.026	T	0.71862	-0.4464	10	0.02654	T	1	.	19.0511	0.93046	0.0:1.0:0.0:0.0	.	450;450	P50416;P50416-2	CPT1A_HUMAN;.	N	450	ENSP00000439084:D450N;ENSP00000365803:D450N;ENSP00000265641:D450N;ENSP00000446108:D450N	ENSP00000265641:D450N	D	-	1	0	CPT1A	68305819	1.000000	0.71417	0.949000	0.38748	0.057000	0.15508	7.575000	0.82447	2.512000	0.84698	0.655000	0.94253	GAC		0.473	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876	
FAT3	120114	broad.mit.edu	37	11	92539549	92539549	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr11:92539549C>T	ENST00000298047.6	+	11	9132	c.9115C>T	c.(9115-9117)Cct>Tct	p.P3039S	FAT3_ENST00000409404.2_Missense_Mutation_p.P3039S|FAT3_ENST00000525166.1_Missense_Mutation_p.P2889S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3039	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGCATTACTTCCTGAAGACAT	0.358										TCGA Ovarian(4;0.039)																												uc001pdj.3																			0				ovary(4)|pancreas(1)	5						c.(9115-9117)CCT>TCT		FAT tumor suppressor homolog 3							78.0	72.0	74.0					11																	92539549		1843	4097	5940	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92539549C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9115C>T	11.37:g.92539549C>T	ENSP00000298047:p.Pro3039Ser	TCGA Ovarian(4;0.039)					p.P3039S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			11	9132	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3039			Cadherin 28.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.9115C>T		.	.	.	.	.	.	.	.	.	.	C	17.74	3.463261	0.63513	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.52983	0.64;0.64;0.64	5.84	5.84	0.93424	.	.	.	.	.	T	0.38904	0.1058	N	0.24115	0.695	0.80722	D	1	P	0.38223	0.623	B	0.37508	0.252	T	0.10636	-1.0621	9	0.28530	T	0.3	.	20.1379	0.98040	0.0:1.0:0.0:0.0	.	3039	Q8TDW7-3	.	S	3039;3039;2889	ENSP00000298047:P3039S;ENSP00000387040:P3039S;ENSP00000432586:P2889S	ENSP00000298047:P3039S	P	+	1	0	FAT3	92179197	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.384000	0.59607	2.779000	0.95612	0.655000	0.94253	CCT		0.358	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
CD163L1	283316	broad.mit.edu	37	12	7559424	7559424	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:7559424A>G	ENST00000313599.3	-	5	848	c.791T>C	c.(790-792)cTt>cCt	p.L264P	CD163L1_ENST00000416109.2_Missense_Mutation_p.L274P|CD163L1_ENST00000396630.1_Missense_Mutation_p.L264P			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	264	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCCACCTACAAGCCTTAGTTC	0.448																																						uc001qsy.2																			0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(790-792)CTT>CCT		scavenger receptor cysteine-rich type 1							162.0	149.0	153.0					12																	7559424		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7559424A>G	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.791T>C	12.37:g.7559424A>G	ENSP00000315945:p.Leu264Pro					CD163L1_uc010sge.1_Missense_Mutation_p.L274P	p.L264P	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			5	817	-			264			SRCR 3.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.791T>C	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	A	15.88	2.964343	0.53507	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.61158	0.13;0.13;0.13	1.55	1.55	0.23275	Speract/scavenger receptor (1);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.77745	0.4176	M	0.93462	3.42	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.77930	-0.2403	9	0.66056	D	0.02	.	7.1225	0.25453	1.0:0.0:0.0:0.0	.	274;264	E7EVK4;Q9NR16	.;C163B_HUMAN	P	264;274;264	ENSP00000315945:L264P;ENSP00000393474:L274P;ENSP00000379871:L264P	ENSP00000315945:L264P	L	-	2	0	CD163L1	7450691	1.000000	0.71417	0.062000	0.19696	0.405000	0.30901	6.781000	0.75068	0.949000	0.37715	0.377000	0.23210	CTT		0.448	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	
AICDA	57379	broad.mit.edu	37	12	8759510	8759510	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:8759510C>T	ENST00000229335.6	-	2	210	c.107G>A	c.(106-108)cGt>cAt	p.R36H	AICDA_ENST00000537228.1_Missense_Mutation_p.R36H	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	36					B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					AGCACTGTCACGCCTCTTCAC	0.463																																					GBM(62;896 1067 5527 26594 30137)	uc001qur.2																			0				ovary(1)|pancreas(1)	2						c.(106-108)CGT>CAT		activation-induced cytidine deaminase							92.0	88.0	89.0					12																	8759510		1976	4149	6125	SO:0001583	missense	57379	Immune_Deficiency_with_Hyper-IgM			B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	g.chr12:8759510C>T	AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"""Apolipoprotein B mRNA editing enzymes"""	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.107G>A	12.37:g.8759510C>T	ENSP00000229335:p.Arg36His					AICDA_uc001qup.1_Missense_Mutation_p.R31H|AICDA_uc001quq.1_Missense_Mutation_p.R31H|AICDA_uc009zgd.1_RNA	p.R36H	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN			2	186	-	Lung SC(5;0.184)		36					Q6QJ81|Q8NFC1	Missense_Mutation	SNP	ENST00000229335.6	37	c.107G>A	CCDS41747.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.6|25.6	4.650610|4.650610	0.87958|0.87958	.|.	.|.	ENSG00000111732|ENSG00000111732	ENST00000229335;ENST00000537228|ENST00000543081;ENST00000544516;ENST00000545512	T;T|.	0.67698|.	-0.28;-0.28|.	5.36|5.36	5.36|5.36	0.76844|0.76844	APOBEC-like, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70430|0.70430	0.3223|0.3223	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.999|.	T|T	0.67688|0.67688	-0.5606|-0.5606	10|5	0.44086|.	T|.	0.13|.	-19.4192|-19.4192	17.6431|17.6431	0.88142|0.88142	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	36;36;36|.	Q9GZX7;Q6QJ80;Q6QJ81|.	AICDA_HUMAN;.;.|.	H|M	36|35	ENSP00000229335:R36H;ENSP00000445691:R36H|.	ENSP00000229335:R36H|.	R|V	-|-	2|1	0|0	AICDA|AICDA	8650777|8650777	0.919000|0.919000	0.31177|0.31177	0.988000|0.988000	0.46212|0.46212	0.901000|0.901000	0.52897|0.52897	7.245000|7.245000	0.78237|0.78237	2.505000|2.505000	0.84491|0.84491	0.467000|0.467000	0.42956|0.42956	CGT|GTG		0.463	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661	
SENP1	29843	broad.mit.edu	37	12	48465464	48465464	+	Silent	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:48465464C>T	ENST00000004980.5	-	9	1459	c.981G>A	c.(979-981)caG>caA	p.Q327Q	SENP1_ENST00000549518.1_Silent_p.Q327Q|SENP1_ENST00000549595.1_Silent_p.Q327Q|SENP1_ENST00000448372.1_Silent_p.Q327Q|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000551330.1_Silent_p.Q327Q			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	327					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				GAGTTGGAGTCTGGGAATCTT	0.358																																						uc001rqx.2																			0				pancreas(2)|lung(1)	3						c.(979-981)CAG>CAA		sentrin/SUMO-specific protease 1							40.0	38.0	39.0					12																	48465464		1798	4067	5865	SO:0001819	synonymous_variant	29843				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity	g.chr12:48465464C>T	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.981G>A	12.37:g.48465464C>T						SENP1_uc001rqw.2_Silent_p.Q327Q|SENP1_uc001rqy.2_Silent_p.Q128Q|SENP1_uc001rqz.2_Silent_p.Q128Q|SENP1_uc009zkx.2_Silent_p.Q327Q	p.Q327Q	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN			9	1427	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	327					A8K7P5|Q86XC8	Silent	SNP	ENST00000004980.5	37	c.981G>A	CCDS44868.2																																																																																				0.358	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554	
DGKA	1606	broad.mit.edu	37	12	56336026	56336026	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:56336026C>T	ENST00000331886.5	+	17	1859	c.1405C>T	c.(1405-1407)Cga>Tga	p.R469*	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Nonsense_Mutation_p.R469*|DGKA_ENST00000394147.1_Nonsense_Mutation_p.R469*	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	469	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TGATCTGGCTCGATGCCTAAG	0.498																																						uc001sij.2																			0				ovary(3)|pancreas(1)	4						c.(1405-1407)CGA>TGA		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						216.0	176.0	190.0					12																	56336026		2203	4300	6503	SO:0001587	stop_gained	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56336026C>T	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.1405C>T	12.37:g.56336026C>T	ENSP00000328405:p.Arg469*					DGKA_uc001sih.1_Nonsense_Mutation_p.R357*|DGKA_uc001sii.1_Nonsense_Mutation_p.R327*|DGKA_uc009zod.1_Nonsense_Mutation_p.R388*|DGKA_uc001sik.2_Nonsense_Mutation_p.R469*|DGKA_uc001sil.2_Nonsense_Mutation_p.R469*|DGKA_uc001sim.2_Nonsense_Mutation_p.R469*|DGKA_uc001sin.2_Nonsense_Mutation_p.R469*|DGKA_uc009zof.2_Nonsense_Mutation_p.R115*|DGKA_uc001sio.2_Nonsense_Mutation_p.R211*	p.R469*	NM_001345	NP_001336	P23743	DGKA_HUMAN			17	1669	+			469			DAGKc.		O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Nonsense_Mutation	SNP	ENST00000331886.5	37	c.1405C>T	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732683	0.89482	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156;ENST00000552903	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.8066	0.88602	0.0:1.0:0.0:0.0	.	.	.	.	X	469;388;469;469;79	.	ENSP00000328405:R469X	R	+	1	2	DGKA	54622293	0.988000	0.35896	1.000000	0.80357	0.996000	0.88848	2.832000	0.48152	2.826000	0.97356	0.491000	0.48974	CGA		0.498	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1		
SSH1	54434	broad.mit.edu	37	12	109194640	109194640	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:109194640T>C	ENST00000326495.5	-	12	1157	c.1064A>G	c.(1063-1065)tAt>tGt	p.Y355C	SSH1_ENST00000551165.1_Missense_Mutation_p.Y355C|SSH1_ENST00000360239.3_Missense_Mutation_p.Y43C|SSH1_ENST00000326470.5_Missense_Mutation_p.Y366C	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	355	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GATGTTATGATATGCAAATAA	0.363																																						uc001tnm.2																			0				ovary(4)	4						c.(1063-1065)TAT>TGT		slingshot 1 isoform 1							108.0	112.0	110.0					12																	109194640		2203	4300	6503	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109194640T>C	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1064A>G	12.37:g.109194640T>C	ENSP00000315713:p.Tyr355Cys					SSH1_uc001tnl.2_Missense_Mutation_p.Y43C|SSH1_uc010sxg.1_Missense_Mutation_p.Y366C|SSH1_uc001tnn.3_Missense_Mutation_p.Y355C	p.Y355C	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN			12	1151	-			355			Tyrosine-protein phosphatase.		Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.1064A>G	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.223570	0.79576	.	.	ENSG00000084112	ENST00000360239;ENST00000326495;ENST00000551165;ENST00000326470	T;T;T;T	0.66280	1.03;-0.2;-0.2;-0.2	5.72	5.72	0.89469	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.83552	0.5279	M	0.91300	3.195	0.58432	D	0.999996	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.983;0.998;1.0;1.0	D	0.87352	0.2338	10	0.87932	D	0	-22.2681	16.3141	0.82909	0.0:0.0:0.0:1.0	.	366;355;355;43	Q8WYL5-5;Q8WYL5-2;Q8WYL5;Q8WYL5-4	.;.;SSH1_HUMAN;.	C	43;355;355;366	ENSP00000353374:Y43C;ENSP00000315713:Y355C;ENSP00000448824:Y355C;ENSP00000326107:Y366C	ENSP00000326107:Y366C	Y	-	2	0	SSH1	107718769	1.000000	0.71417	0.606000	0.28943	0.829000	0.46940	8.040000	0.89188	2.317000	0.78254	0.460000	0.39030	TAT		0.363	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984	
VSIG10	54621	broad.mit.edu	37	12	118509166	118509166	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:118509166T>G	ENST00000359236.5	-	6	1604	c.1328A>C	c.(1327-1329)aAa>aCa	p.K443T		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	443						integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GTCCTTACCTTTCCAGCAGAA	0.532																																						uc001tws.2																			0					0						c.(1327-1329)AAA>ACA		V-set and immunoglobulin domain containing 10							87.0	92.0	91.0					12																	118509166		1879	4109	5988	SO:0001583	missense	54621					integral to membrane		g.chr12:118509166T>G		CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.1328A>C	12.37:g.118509166T>G	ENSP00000352172:p.Lys443Thr						p.K443T	NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN			6	1662	-			443			Cytoplasmic (Potential).		Q9NWQ7	Missense_Mutation	SNP	ENST00000359236.5	37	c.1328A>C	CCDS44992.1	.	.	.	.	.	.	.	.	.	.	T	14.52	2.560035	0.45590	.	.	ENSG00000176834	ENST00000359236	T	0.55234	0.53	4.72	3.47	0.39725	.	0.000000	0.47852	D	0.000209	T	0.58524	0.2128	M	0.63428	1.95	0.32387	N	0.553801	D	0.69078	0.997	P	0.60789	0.879	T	0.61893	-0.6969	10	0.22109	T	0.4	11.99	6.6745	0.23085	0.0:0.0897:0.1578:0.7525	.	443	Q8N0Z9	VSI10_HUMAN	T	443	ENSP00000352172:K443T	ENSP00000352172:K443T	K	-	2	0	VSIG10	116993549	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	1.555000	0.36277	2.088000	0.63022	0.374000	0.22700	AAA		0.532	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2	NM_019086	
RB1	5925	broad.mit.edu	37	13	48941638	48941641	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr13:48941638_48941641delTCTT	ENST00000267163.4	+	10	1086_1089	c.948_951delTCTT	c.(946-951)aatcttfs	p.NL316fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	316					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AGGTTGAAAATCTTTCTAAACGAT	0.299		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		22	Whole gene deletion(15)|Unknown(7)	p.?(6)	bone(11)|breast(5)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358						c.(946-951)AATCTTfs		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48941638_48941641delTCTT	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.948_951delTCTT	13.37:g.48941638_48941641delTCTT	ENSP00000267163:p.Asn316fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010act.1_Frame_Shift_Del_p.N17fs	p.N316fs	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	10	1114_1117	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	316_317					A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	c.948_951delTCTT	CCDS31973.1																																																																																				0.299	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
PIBF1	10464	broad.mit.edu	37	13	73372127	73372127	+	Nonsense_Mutation	SNP	T	T	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr13:73372127T>A	ENST00000326291.6	+	5	973	c.635T>A	c.(634-636)tTa>tAa	p.L212*		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	212						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GCAGAAGAATTAAGTACAAAC	0.373																																						uc001vjc.2																			0				ovary(1)|breast(1)	2						c.(634-636)TTA>TAA		progesterone-induced blocking factor 1							108.0	113.0	111.0					13																	73372127		2203	4300	6503	SO:0001587	stop_gained	10464					centrosome		g.chr13:73372127T>A	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.635T>A	13.37:g.73372127T>A	ENSP00000317144:p.Leu212*					PIBF1_uc001vja.1_Nonsense_Mutation_p.L212*|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Nonsense_Mutation_p.L212*|PIBF1_uc010aep.2_Intron	p.L212*	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	5	940	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	212					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Nonsense_Mutation	SNP	ENST00000326291.6	37	c.635T>A	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	T	39	7.330834	0.98217	.	.	ENSG00000083535	ENST00000326291;ENST00000538949	.	.	.	5.31	5.31	0.75309	.	0.408397	0.23591	N	0.046556	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0752	15.2716	0.73705	0.0:0.0:0.0:1.0	.	.	.	.	X	212	.	ENSP00000317144:L212X	L	+	2	0	PIBF1	72270128	0.646000	0.27295	0.857000	0.33713	0.886000	0.51366	3.692000	0.54727	2.012000	0.59069	0.528000	0.53228	TTA		0.373	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346	
MIA2	117153	broad.mit.edu	37	14	39722420	39722420	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr14:39722420G>T	ENST00000280082.3	+	6	2131	c.1932G>T	c.(1930-1932)ttG>ttT	p.L644F	RP11-407N17.3_ENST00000553728.1_Intron	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	0					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TACCTATTTTGCTAAATATAA	0.289																																						uc001wux.2																			0				ovary(1)|breast(1)	2						c.(1930-1932)TTG>TTT		melanoma inhibitory activity 2							69.0	76.0	74.0					14																	39722420		2199	4276	6475	SO:0001583	missense	117153					extracellular region		g.chr14:39722420G>T	BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.1932G>T	14.37:g.39722420G>T	ENSP00000280082:p.Leu644Phe						p.L644F	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)	6	2126	+	Hepatocellular(127;0.213)		Error:Variant_position_missing_in_Q96PC5_after_alignment					A1L4H0|Q9H6C1	Missense_Mutation	SNP	ENST00000280082.3	37	c.1932G>T	CCDS9672.1	.	.	.	.	.	.	.	.	.	.	G	9.610	1.130924	0.21041	.	.	ENSG00000150526	ENST00000280082	T	0.51325	0.71	4.29	-3.09	0.05331	.	.	.	.	.	T	0.24736	0.0600	.	.	.	0.09310	N	1	B	0.22683	0.073	B	0.23018	0.043	T	0.19386	-1.0307	7	.	.	.	.	3.6176	0.08083	0.2719:0.0:0.2763:0.4518	.	644	Q96PC5-2	.	F	644	ENSP00000280082:L644F	.	L	+	3	2	MIA2	38792171	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.647000	0.05397	-0.676000	0.05238	-0.312000	0.09012	TTG		0.289	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024	
FLVCR2	55640	broad.mit.edu	37	14	76107379	76107379	+	Silent	SNP	C	C	T	rs573951578		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr14:76107379C>T	ENST00000238667.4	+	7	1673	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000555027.1_Silent_p.S154S|FLVCR2_ENST00000539311.1_Silent_p.S234S	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	439				S -> F (in Ref. 3; BAA91126). {ECO:0000305}.	heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		GCATCTCCTCCGGCCTCCTCA	0.502													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21751	0.0		0.0	False		,,,				2504	0.0					uc001xrs.2																			0					0						c.(1315-1317)TCC>TCT		feline leukemia virus subgroup C cellular							128.0	113.0	118.0					14																	76107379		2203	4300	6503	SO:0001819	synonymous_variant	55640				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	g.chr14:76107379C>T	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.1317C>T	14.37:g.76107379C>T						FLVCR2_uc010tvd.1_Silent_p.S234S	p.S439S	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	7	1693	+			439	S -> F (in Ref. 3; BAA91126).		Helical; (Potential).		B7Z485|Q53ZT9|Q96JY3|Q9NX90	Silent	SNP	ENST00000238667.4	37	c.1317C>T	CCDS9844.1																																																																																				0.502	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791	
SPTBN5	51332	broad.mit.edu	37	15	42148626	42148626	+	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:42148626delA	ENST00000320955.6	-	53	9206	c.8979delT	c.(8977-8979)cttfs	p.L2995fs		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2995					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCTGCAGCAGAAGCCGCCTCC	0.697																																						uc001zos.2																			0				ovary(1)|central_nervous_system(1)	2						c.(8872-8874)CTTfs		spectrin, beta, non-erythrocytic 5							10.0	14.0	13.0					15																	42148626		2030	4165	6195	SO:0001589	frameshift_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42148626delA	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.8979delT	15.37:g.42148626delA	ENSP00000317790:p.Leu2995fs						p.L2958fs	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	53	9207	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	2993			Spectrin 26.			Frame_Shift_Del	DEL	ENST00000320955.6	37	c.8874delT																																																																																					0.697	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642	
ZSCAN29	146050	broad.mit.edu	37	15	43661801	43661801	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:43661801C>G	ENST00000396976.2	-	1	445	c.311G>C	c.(310-312)aGa>aCa	p.R104T	TUBGCP4_ENST00000564079.1_5'Flank|TUBGCP4_ENST00000260383.7_5'Flank|ZSCAN29_ENST00000563508.1_5'Flank|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.R104T|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.R103T|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.R103T|TUBGCP4_ENST00000570081.1_3'UTR	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	104			R -> G (in dbSNP:rs3809482). {ECO:0000269|PubMed:14702039}.		regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CACCGAAGATCTAGGTCTTCC	0.468																																						uc001zrk.1																			0				skin(1)	1						c.(310-312)AGA>ACA		zinc finger protein 690							95.0	105.0	102.0					15																	43661801		2201	4299	6500	SO:0001583	missense	146050				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:43661801C>G	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.311G>C	15.37:g.43661801C>G	ENSP00000380174:p.Arg104Thr					ZSCAN29_uc001zrj.1_5'Flank|ZSCAN29_uc010bdf.1_Missense_Mutation_p.R103T|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Missense_Mutation_p.R103T|ZSCAN29_uc001zrm.2_Missense_Mutation_p.R103T|TUBGCP4_uc001zrn.2_5'Flank|TUBGCP4_uc001zro.2_5'Flank	p.R104T	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	1	458	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	104					B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	37	c.311G>C	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478507	0.26511	.	.	ENSG00000140265	ENST00000396976;ENST00000396972	T;T	0.04234	3.67;3.67	4.79	3.86	0.44501	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	0.138436	0.33161	N	0.005210	T	0.08044	0.0201	M	0.77820	2.39	0.80722	D	1	B;B;B;B	0.27140	0.007;0.169;0.14;0.001	B;B;B;B	0.34346	0.011;0.18;0.113;0.001	T	0.08848	-1.0702	10	0.28530	T	0.3	-9.2469	5.5106	0.16878	0.1993:0.7017:0.0:0.099	.	104;103;104;104	Q8IWY8-4;C9K0J8;Q8IWY8-3;Q8IWY8	.;.;.;ZSC29_HUMAN	T	104	ENSP00000380174:R104T;ENSP00000380170:R104T	ENSP00000380170:R104T	R	-	2	0	ZSCAN29	41449093	0.700000	0.27796	0.986000	0.45419	0.838000	0.47535	0.681000	0.25320	2.632000	0.89209	0.655000	0.94253	AGA		0.468	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455	
ONECUT1	3175	broad.mit.edu	37	15	53081863	53081863	+	Silent	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:53081863C>T	ENST00000305901.5	-	1	346	c.219G>A	c.(217-219)cgG>cgA	p.R73R	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	73					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GCTCAGGGGCCCGGTGGTGGT	0.711																																						uc002aci.1																			0					0						c.(217-219)CGG>CGA		one cut homeobox 1							22.0	22.0	22.0					15																	53081863		2190	4288	6478	SO:0001819	synonymous_variant	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53081863C>T	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.219G>A	15.37:g.53081863C>T							p.R73R	NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	347	-			73					B2RTV4|Q99744|Q9UMR6	Silent	SNP	ENST00000305901.5	37	c.219G>A	CCDS10150.1																																																																																				0.711	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2		
TCF12	6938	broad.mit.edu	37	15	57565229	57565244	+	Splice_Site	DEL	AGTACTAATGAAGATG	AGTACTAATGAAGATG	-			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:57565229_57565244delAGTACTAATGAAGATG	ENST00000267811.5	+	18	1979_1994	c.1675_1690delAGTACTAATGAAGATG	c.(1675-1692)agtactaatgaagatgag>ag	p.STNEDE559fs	TCF12_ENST00000559703.1_Splice_Site_p.KY**R*216fs|TCF12_ENST00000438423.2_Splice_Site_p.STNEDE583fs|TCF12_ENST00000343827.3_Splice_Site_p.STNEDE389fs|TCF12_ENST00000557843.1_Splice_Site_p.STNEDE559fs|TCF12_ENST00000452095.2_Splice_Site_p.STNEDE579fs|TCF12_ENST00000543579.1_Splice_Site_p.STNEDE413fs|TCF12_ENST00000559710.1_Splice_Site_p.STNEDE193fs|TCF12_ENST00000333725.5_Splice_Site_p.STNEDE583fs|TCF12_ENST00000537840.1_Splice_Site_p.STNEDE323fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	559					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ATTTTCTAGCAGTACTAATGAAGATGAGGATTTGAA	0.384			T	TEC	extraskeletal myxoid chondrosarcoma																																	uc002aec.2				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma		0				central_nervous_system(5)|ovary(2)|lung(1)	8						c.(1675-1692)AGTACTAATGAAGATGAGfs		transcription factor 12 isoform b																																				SO:0001630	splice_region_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57565229_57565244delAGTACTAATGAAGATG	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1674-1AGTACTAATGAAGATG>-	15.37:g.57565229_57565244delAGTACTAATGAAGATG						TCF12_uc010ugm.1_Frame_Shift_Del_p.S611fs|TCF12_uc010ugn.1_Frame_Shift_Del_p.S579fs|TCF12_uc002aea.2_Frame_Shift_Del_p.S583fs|TCF12_uc010bfs.2_5'UTR|TCF12_uc002aeb.2_Frame_Shift_Del_p.S583fs|TCF12_uc002aed.2_Frame_Shift_Del_p.S559fs|TCF12_uc002aee.2_Frame_Shift_Del_p.S389fs|TCF12_uc010bft.2_Frame_Shift_Del_p.S413fs|TCF12_uc010ugo.1_Frame_Shift_Del_p.S323fs|TCF12_uc010ugp.1_Splice_Site_p.S216_splice|TCF12_uc010ugq.1_Frame_Shift_Del_p.S193fs|TCF12_uc010ugr.1_Frame_Shift_Del_p.S172fs	p.S559fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	18	1959_1974	+		Colorectal(260;0.0907)	559_564					Q7Z3D9|Q86TC1|Q86VM2	Frame_Shift_Del	DEL	ENST00000267811.5	37	c.1675_1690delAGTACTAATGAAGATG	CCDS10159.1																																																																																				0.384	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205	Frame_Shift_Del
ZNF592	9640	broad.mit.edu	37	15	85326217	85326217	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:85326217C>A	ENST00000560079.2	+	4	599	c.311C>A	c.(310-312)cCc>cAc	p.P104H	ZNF592_ENST00000299927.3_Missense_Mutation_p.P104H	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	104					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCTCCAGATCCCCACAACTGT	0.512																																						uc002bld.2																			0				ovary(4)|skin(2)	6						c.(310-312)CCC>CAC		zinc finger protein 592							59.0	61.0	60.0					15																	85326217		2203	4299	6502	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85326217C>A	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.311C>A	15.37:g.85326217C>A	ENSP00000452877:p.Pro104His					ZNF592_uc010upb.1_RNA	p.P104H	NM_014630	NP_055445	Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		4	647	+			104					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.311C>A	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047394	0.75846	.	.	ENSG00000166716	ENST00000299927	T	0.00623	6.15	6.06	6.06	0.98353	.	0.311390	0.40222	N	0.001152	T	0.01124	0.0037	N	0.19112	0.55	0.41106	D	0.985705	P	0.48503	0.911	P	0.49752	0.621	T	0.79596	-0.1738	10	0.66056	D	0.02	-8.0711	18.1147	0.89549	0.0:1.0:0.0:0.0	.	104	Q92610	ZN592_HUMAN	H	104	ENSP00000299927:P104H	ENSP00000299927:P104H	P	+	2	0	ZNF592	83127221	1.000000	0.71417	0.977000	0.42913	0.993000	0.82548	7.346000	0.79347	2.882000	0.98803	0.655000	0.94253	CCC		0.512	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630	
SLC28A1	9154	broad.mit.edu	37	15	85478601	85478601	+	Missense_Mutation	SNP	C	C	T	rs116070802		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:85478601C>T	ENST00000286749.3	+	14	1523	c.1433C>T	c.(1432-1434)gCg>gTg	p.A478V	SLC28A1_ENST00000537216.1_Missense_Mutation_p.A478V|SLC28A1_ENST00000537624.1_Missense_Mutation_p.A478V|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000394573.1_Missense_Mutation_p.A478V			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	478					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	ATGGGTGTGGCGTGGGAGGAC	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21054	0.0		0.0	False		,,,				2504	0.0					uc002blg.2																			0				skin(2)|ovary(1)	3						c.(1432-1434)GCG>GTG		solute carrier family 28, member 1 isoform 1		C	VAL/ALA	6,4400	11.4+/-27.6	0,6,2197	114.0	92.0	99.0		1433	2.0	0.9	15	dbSNP_132	99	1,8597	1.2+/-3.3	0,1,4298	yes	missense	SLC28A1	NM_004213.3	64	0,7,6495	TT,TC,CC		0.0116,0.1362,0.0538	benign	478/650	85478601	7,12997	2203	4299	6502	SO:0001583	missense	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85478601C>T	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1433C>T	15.37:g.85478601C>T	ENSP00000286749:p.Ala478Val					SLC28A1_uc010bnb.2_Missense_Mutation_p.A478V|SLC28A1_uc010upe.1_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.A478V|SLC28A1_uc010upg.1_Missense_Mutation_p.A478V	p.A478V	NM_004213	NP_004204	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		15	1635	+			478					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	c.1433C>T	CCDS10334.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	7.318	0.616397	0.14129	0.001362	1.16E-4	ENSG00000156222	ENST00000537216;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.06768	3.26;3.26;3.26;3.26	5.12	1.96	0.26148	Na dependent nucleoside transporter, C-terminal (1);	0.538676	0.21238	N	0.077872	T	0.09113	0.0225	M	0.68952	2.095	0.58432	D	0.999999	B;B;B	0.14012	0.009;0.001;0.003	B;B;B	0.10450	0.005;0.005;0.005	T	0.10428	-1.0630	10	0.38643	T	0.18	-4.7113	5.121	0.14860	0.2507:0.5491:0.1227:0.0775	.	478;478;478	B7Z533;F5H560;O00337	.;.;S28A1_HUMAN	V	478	ENSP00000440546:A478V;ENSP00000444700:A478V;ENSP00000286749:A478V;ENSP00000378074:A478V	ENSP00000286749:A478V	A	+	2	0	SLC28A1	83279605	0.995000	0.38212	0.900000	0.35374	0.154000	0.21943	1.485000	0.35519	0.316000	0.23135	-1.521000	0.00933	GCG		0.597	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2		
CRTC3	64784	broad.mit.edu	37	15	91184403	91184403	+	Silent	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:91184403C>T	ENST00000268184.6	+	14	1627	c.1623C>T	c.(1621-1623)tgC>tgT	p.C541C	CRTC3_ENST00000420329.2_Silent_p.C541C|RP11-387D10.2_ENST00000559531.1_RNA			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	541					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			ATTCCAACTGCGGGAGTCTCC	0.507			T	MAML2	salivary gland mucoepidermoid																																	uc002bpp.2				Dom	yes		15	15q26.1	64784	T	CREB regulated transcription coactivator 3			E	MAML2		salivary gland mucoepidermoid	CRTC3/MAML2(26)	0				salivary_gland(26)|ovary(1)	27						c.(1621-1623)TGC>TGT		transducer of regulated CREB protein 3 isoform							94.0	77.0	83.0					15																	91184403		2198	4298	6496	SO:0001819	synonymous_variant	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91184403C>T		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.1623C>T	15.37:g.91184403C>T						CRTC3_uc002bpo.2_Silent_p.C541C	p.C541C	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)		14	1729	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		541					Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Silent	SNP	ENST00000268184.6	37	c.1623C>T	CCDS32331.1																																																																																				0.507	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769	
WDR90	197335	broad.mit.edu	37	16	711897	711897	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:711897C>T	ENST00000293879.4	+	32	3871	c.3871C>T	c.(3871-3873)Cga>Tga	p.R1291*	WDR90_ENST00000549091.1_Nonsense_Mutation_p.R1291*			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1291										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCAGGTGCGTCGAGAGCCAGT	0.637																																						uc002cii.1																			0				ovary(1)	1						c.(3871-3873)CGA>TGA		WD repeat domain 90							84.0	107.0	99.0					16																	711897		2067	4213	6280	SO:0001587	stop_gained	197335							g.chr16:711897C>T	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.3871C>T	16.37:g.711897C>T	ENSP00000293879:p.Arg1291*					WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Nonsense_Mutation_p.R818*|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Nonsense_Mutation_p.R465*|WDR90_uc002cin.1_5'UTR	p.R1291*	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			32	3925	+		Hepatocellular(780;0.0218)	1291					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Nonsense_Mutation	SNP	ENST00000293879.4	37	c.3871C>T	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	C	41	8.773581	0.98948	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	.	.	.	5.45	0.846	0.18955	.	0.154081	0.39544	U	0.001339	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.3416	0.21327	0.3861:0.4522:0.0:0.1617	.	.	.	.	X	1291	.	ENSP00000293879:R1291X	R	+	1	2	WDR90	651898	0.014000	0.17966	0.000000	0.03702	0.009000	0.06853	0.622000	0.24433	0.263000	0.21812	0.561000	0.74099	CGA		0.637	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294	
MLST8	64223	broad.mit.edu	37	16	2256621	2256621	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:2256621C>T	ENST00000569417.1	+	4	659	c.305C>T	c.(304-306)aCg>aTg	p.T102M	MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000397124.1_Missense_Mutation_p.T102M|MLST8_ENST00000301725.7_Missense_Mutation_p.T121M|MLST8_ENST00000301724.10_Missense_Mutation_p.T102M|AC009065.3_ENST00000517149.1_RNA|MLST8_ENST00000382450.4_Missense_Mutation_p.T101M|MLST8_ENST00000564088.1_Missense_Mutation_p.T102M|MLST8_ENST00000565250.1_Missense_Mutation_p.T102M	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	102					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						TGGATGTACACGGGCGGCGAG	0.632																																						uc002coz.2																			0					0						c.(304-306)ACG>ATG		G protein beta subunit-like							108.0	113.0	111.0					16																	2256621		2016	4180	6196	SO:0001583	missense	64223				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding	g.chr16:2256621C>T		CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"""WD repeat domain containing"""	24825	protein-coding gene	gene with protein product	"""G protein beta subunit like"""	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.305C>T	16.37:g.2256621C>T	ENSP00000456405:p.Thr102Met					MLST8_uc002coy.2_Missense_Mutation_p.T102M|MLST8_uc002cpa.2_Translation_Start_Site|MLST8_uc002cpb.2_Missense_Mutation_p.T101M|MLST8_uc010uvx.1_Missense_Mutation_p.T36M|MLST8_uc002cpc.2_Missense_Mutation_p.T102M|MLST8_uc002cpd.2_Missense_Mutation_p.T36M|MLST8_uc002cpe.2_Missense_Mutation_p.T102M|MLST8_uc010uvy.1_Missense_Mutation_p.T102M|MLST8_uc002cpg.2_Missense_Mutation_p.T121M|MLST8_uc002cph.2_RNA|MLST8_uc002cpf.2_Missense_Mutation_p.T102M	p.T102M	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN			4	424	+			102			WD 3.		B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Missense_Mutation	SNP	ENST00000569417.1	37	c.305C>T	CCDS10462.2	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777517	0.90195	.	.	ENSG00000167965	ENST00000382450;ENST00000301724;ENST00000397124;ENST00000301725	T;T;T	0.68181	-0.31;-0.31;-0.31	4.96	4.96	0.65561	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87881	0.6289	H	0.96889	3.9	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;P;D;D	0.79784	0.993;0.855;0.966;0.991	D	0.92177	0.5748	10	0.87932	D	0	-19.1623	16.7681	0.85528	0.0:1.0:0.0:0.0	.	102;121;36;102	B4E2R3;Q9BVC4-4;Q9BVC4-3;Q9BVC4	.;.;.;LST8_HUMAN	M	102;102;102;121	ENSP00000301724:T102M;ENSP00000380313:T102M;ENSP00000301725:T121M	ENSP00000301724:T102M	T	+	2	0	MLST8	2196622	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.909000	0.69923	2.298000	0.77334	0.561000	0.74099	ACG		0.632	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	NM_022372	
CCNF	899	broad.mit.edu	37	16	2506722	2506722	+	Missense_Mutation	SNP	C	C	T	rs527471283	byFrequency	TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:2506722C>T	ENST00000397066.4	+	17	2150	c.2062C>T	c.(2062-2064)Cgc>Tgc	p.R688C	RP11-715J22.4_ENST00000566085.1_lincRNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	688	PEST.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				ACCCCTGGTCCGCACCAGCCG	0.662													C|||	4	0.000798722	0.0	0.0	5008	,	,		19828	0.004		0.0	False		,,,				2504	0.0					uc002cqd.1																			0				central_nervous_system(1)|kidney(1)	2						c.(2062-2064)CGC>TGC		cyclin F							59.0	57.0	58.0					16																	2506722		2198	4300	6498	SO:0001583	missense	899				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	g.chr16:2506722C>T	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.2062C>T	16.37:g.2506722C>T	ENSP00000380256:p.Arg688Cys					CCNF_uc002cqe.1_Missense_Mutation_p.R380C	p.R688C	NM_001761	NP_001752	P41002	CCNF_HUMAN			17	2150	+		Ovarian(90;0.17)	688			PEST.		B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	c.2062C>T	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586488	0.28268	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.21932	1.98	5.08	-5.95	0.02241	.	1.890110	0.01858	N	0.036400	T	0.06872	0.0175	N	0.00436	-1.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34254	-0.9836	10	0.36615	T	0.2	-1.1167	14.4355	0.67277	0.0:0.7304:0.0:0.2696	.	688	P41002	CCNF_HUMAN	C	688;603	ENSP00000380256:R688C	ENSP00000293968:R603C	R	+	1	0	CCNF	2446723	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.264000	0.01173	-1.065000	0.03168	-2.715000	0.00133	CGC		0.662	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761	
GOT2	2806	broad.mit.edu	37	16	58752174	58752174	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:58752174G>A	ENST00000245206.5	-	6	756	c.628C>T	c.(628-630)Cat>Tat	p.H210Y	GOT2_ENST00000434819.2_Missense_Mutation_p.H167Y|GOT2_ENST00000564400.1_5'UTR	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	210					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	GCGCAGGCATGCAGAAGAAGA	0.498																																						uc002eof.1																			0				central_nervous_system(1)|skin(1)	2						c.(628-630)CAT>TAT		aspartate aminotransferase 2 precursor	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						100.0	92.0	95.0					16																	58752174		2198	4300	6498	SO:0001583	missense	2806				aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding	g.chr16:58752174G>A		CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"""kynurenine aminotransferase IV"", ""aspartate aminotransferase 2"", ""aspartate transaminase 2"""	138150	"""glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"""			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.628C>T	16.37:g.58752174G>A	ENSP00000245206:p.His210Tyr					GOT2_uc010vim.1_Missense_Mutation_p.H167Y	p.H210Y	NM_002080	NP_002071	P00505	AATM_HUMAN			6	742	-			210					B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Missense_Mutation	SNP	ENST00000245206.5	37	c.628C>T	CCDS10801.1	.	.	.	.	.	.	.	.	.	.	G	33	5.212089	0.95069	.	.	ENSG00000125166	ENST00000245206;ENST00000434819	D;D	0.91407	-2.84;-2.84	5.73	5.73	0.89815	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.97542	0.9195	H	0.98559	4.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98732	1.0713	9	.	.	.	0.4913	18.8967	0.92426	0.0:0.0:1.0:0.0	.	167;210	E7ERW2;P00505	.;AATM_HUMAN	Y	210;167	ENSP00000245206:H210Y;ENSP00000394100:H167Y	.	H	-	1	0	GOT2	57309675	1.000000	0.71417	0.999000	0.59377	0.923000	0.55619	9.684000	0.98659	2.723000	0.93209	0.561000	0.74099	CAT		0.498	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3		
CNTNAP4	85445	broad.mit.edu	37	16	76486640	76486640	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:76486640G>A	ENST00000476707.1	+	7	1455	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G363E|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.G435E|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G387E|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	436	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TACCAGCCAGGAAAATTACCC	0.428																																						uc002feu.1																			0				ovary(1)|pancreas(1)	2						c.(1306-1308)GGA>GAA		cell recognition protein CASPR4 isoform 1							37.0	38.0	38.0					16																	76486640		2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76486640G>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1316G>A	16.37:g.76486640G>A	ENSP00000417628:p.Gly439Glu					CNTNAP4_uc002fev.1_Missense_Mutation_p.G300E|CNTNAP4_uc010chb.1_Missense_Mutation_p.G363E|CNTNAP4_uc002fex.1_Missense_Mutation_p.G439E|CNTNAP4_uc002few.2_Missense_Mutation_p.G411E	p.G436E	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			10	1692	+			436			Extracellular (Potential).|Laminin G-like 2.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.1307G>A		.	.	.	.	.	.	.	.	.	.	G	19.93	3.917377	0.73098	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	5.43	5.43	0.79202	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.181513	0.26442	N	0.024344	D	0.90577	0.7046	.	.	.	0.53688	D	0.999976	B;B;B;P	0.47409	0.163;0.238;0.238;0.895	B;B;B;P	0.55455	0.33;0.445;0.314;0.776	D	0.90285	0.4318	9	0.54805	T	0.06	.	19.4288	0.94756	0.0:0.0:1.0:0.0	.	363;439;411;436	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	E	435;387;363;439	ENSP00000306893:G435E;ENSP00000439733:G387E;ENSP00000418741:G363E;ENSP00000417628:G439E	ENSP00000306893:G435E	G	+	2	0	CNTNAP4	75044141	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.182000	0.65059	2.829000	0.97493	0.655000	0.94253	GGA		0.428	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401	
ZC3H18	124245	broad.mit.edu	37	16	88688687	88688687	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:88688687C>T	ENST00000301011.5	+	9	1758	c.1558C>T	c.(1558-1560)Cgc>Tgc	p.R520C	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R544C	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	520						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GGACCCTTGGCGCCGATCCAA	0.602																																					Ovarian(121;375 2276 20373 38669)	uc002fky.2																			0				skin(1)	1						c.(1558-1560)CGC>TGC		zinc finger CCCH-type containing 18							54.0	56.0	56.0					16																	88688687		2198	4300	6498	SO:0001583	missense	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88688687C>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1558C>T	16.37:g.88688687C>T	ENSP00000301011:p.Arg520Cys					ZC3H18_uc010voz.1_Missense_Mutation_p.R544C|ZC3H18_uc010chw.2_RNA	p.R520C	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	9	1758	+			520					Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.1558C>T	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951073	0.73787	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	T;T	0.54279	0.58;0.58	5.83	5.83	0.93111	.	0.160950	0.64402	D	0.000020	T	0.47154	0.1430	L	0.45581	1.43	0.80722	D	1	P;P	0.38110	0.618;0.618	B;B	0.29440	0.102;0.102	T	0.51092	-0.8749	10	0.56958	D	0.05	-17.7083	19.7135	0.96105	0.0:1.0:0.0:0.0	.	544;520	E7ERS3;Q86VM9	.;ZCH18_HUMAN	C	520;488;544	ENSP00000301011:R520C;ENSP00000416951:R544C	ENSP00000289509:R488C	R	+	1	0	ZC3H18	87216188	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.386000	0.59620	2.769000	0.95229	0.655000	0.94253	CGC		0.602	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604	
PITPNM3	83394	broad.mit.edu	37	17	6376097	6376097	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr17:6376097C>T	ENST00000262483.8	-	11	1396	c.1309G>A	c.(1309-1311)Gca>Aca	p.A437T	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Missense_Mutation_p.A401T	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	437	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GAGGGGTCTGCGCAATGGAAG	0.632																																						uc002gdd.3																			0				ovary(2)|central_nervous_system(2)	4						c.(1309-1311)GCA>ACA		PITPNM family member 3 isoform 1							60.0	59.0	60.0					17																	6376097		2203	4300	6503	SO:0001583	missense	83394				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding	g.chr17:6376097C>T	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1309G>A	17.37:g.6376097C>T	ENSP00000262483:p.Ala437Thr					PITPNM3_uc010cln.2_Missense_Mutation_p.A401T|PITPNM3_uc010clm.2_5'UTR|PITPNM3_uc002gdc.3_Missense_Mutation_p.A28T	p.A437T	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN		Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)	11	1460	-			437			DDHD.		A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.1309G>A	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751647	0.69533	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.44482	0.94;0.92	5.09	5.09	0.68999	DDHD (2);	0.059124	0.64402	D	0.000002	T	0.39279	0.1072	N	0.13098	0.295	0.52099	D	0.999948	P;D	0.71674	0.764;0.998	B;P	0.59424	0.181;0.857	T	0.08953	-1.0697	10	0.06625	T	0.88	.	16.3484	0.83171	0.0:1.0:0.0:0.0	.	401;437	F8WEW5;Q9BZ71	.;PITM3_HUMAN	T	437;401	ENSP00000262483:A437T;ENSP00000407882:A401T	ENSP00000262483:A437T	A	-	1	0	PITPNM3	6316821	1.000000	0.71417	0.983000	0.44433	0.973000	0.67179	4.793000	0.62474	2.516000	0.84829	0.561000	0.74099	GCA		0.632	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220	
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T	rs587782144		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr17:7578457C>T	ENST00000269305.4	-	5	662	c.473G>A	c.(472-474)cGc>cAc	p.R158H	TP53_ENST00000455263.2_Missense_Mutation_p.R158H|TP53_ENST00000420246.2_Missense_Mutation_p.R158H|TP53_ENST00000413465.2_Missense_Mutation_p.R158H|TP53_ENST00000445888.2_Missense_Mutation_p.R158H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R158H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCCATGGCGCGGACGCGGGT	0.627		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		244	Substitution - Missense(188)|Deletion - Frameshift(19)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Insertion - In frame(4)|Complex - frameshift(2)	p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1)	lung(78)|central_nervous_system(33)|oesophagus(20)|haematopoietic_and_lymphoid_tissue(19)|large_intestine(18)|upper_aerodigestive_tract(12)|stomach(12)|urinary_tract(9)|prostate(7)|kidney(6)|liver(6)|breast(5)|bone(4)|soft_tissue(3)|ovary(3)|pancreas(3)|thyroid(2)|biliary_tract(2)|vulva(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM994513	TP53	M		c.(472-474)CGC>CAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							49.0	51.0	50.0					17																	7578457		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578457C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.473G>A	17.37:g.7578457C>T	ENSP00000269305:p.Arg158His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.2_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.1_Missense_Mutation_p.R119H	p.R158H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	158		R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.473G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306299	0.40795	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	D	0.000010	D	0.99809	0.9917	M	0.77486	2.375	0.58432	D	0.999999	D;P;D;D;P;P;D	0.89917	0.998;0.631;0.984;0.982;0.831;0.48;1.0	P;B;P;P;P;B;D	0.97110	0.907;0.274;0.76;0.751;0.516;0.242;1.0	D	0.96738	0.9544	10	0.87932	D	0	-10.4795	12.6491	0.56751	0.0:0.9196:0.0:0.0804	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158H;ENSP00000352610:R158H;ENSP00000269305:R158H;ENSP00000398846:R158H;ENSP00000391127:R158H;ENSP00000391478:R158H;ENSP00000425104:R26H;ENSP00000423862:R65H;ENSP00000424104:R158H	ENSP00000269305:R158H	R	-	2	0	TP53	7519182	1.000000	0.71417	0.034000	0.17996	0.175000	0.22909	7.775000	0.85489	1.514000	0.48869	-0.140000	0.14226	CGC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MED13	9969	broad.mit.edu	37	17	60072508	60072512	+	Splice_Site	DEL	CTTAC	CTTAC	-			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr17:60072508_60072512delCTTAC	ENST00000397786.2	-	10	2258		c.e10+1			NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13						androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGTGATTTCTCTTACCTTGTGTTTT	0.346																																						uc002izo.2																			0				large_intestine(1)|ovary(1)	2						c.e10+1		mediator complex subunit 13																																				SO:0001630	splice_region_variant	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60072508_60072512delCTTAC	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2181+1GTAAG>-	17.37:g.60072508_60072512delCTTAC							p.K727_splice	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			10	2258	-								B2RU05|O60334	Splice_Site	DEL	ENST00000397786.2	37	c.2181_splice	CCDS42366.1																																																																																				0.346	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121	Intron
FSCN2	25794	broad.mit.edu	37	17	79503762	79503762	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr17:79503762C>T	ENST00000417245.2	+	4	1356	c.1220C>T	c.(1219-1221)tCc>tTc	p.S407F	FSCN2_ENST00000334850.7_Missense_Mutation_p.S431F	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	407					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			ACCAACCGCTCCGTCTACGAC	0.701																																						uc010wup.1																			0					0						c.(1219-1221)TCC>TTC		fascin 2 isoform 1							17.0	22.0	20.0					17																	79503762		2127	4229	6356	SO:0001583	missense	25794				actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging	g.chr17:79503762C>T	AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"""Fascins"""	3960	protein-coding gene	gene with protein product		607643	"""fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)"", ""fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"""			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.1220C>T	17.37:g.79503762C>T	ENSP00000388716:p.Ser407Phe					FSCN2_uc010wuo.1_Missense_Mutation_p.S431F	p.S407F	NM_012418	NP_036550	O14926	FSCN2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		4	1361	+	all_neural(118;0.0878)|Melanoma(429;0.242)		407					A0AVC4|A8MRA6	Missense_Mutation	SNP	ENST00000417245.2	37	c.1220C>T	CCDS45811.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592430	0.86953	.	.	ENSG00000186765	ENST00000417245;ENST00000334850	T;T	0.46819	0.86;1.38	3.94	2.95	0.34219	Fascin domain (1);Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.64875	0.2638	M	0.74647	2.275	0.80722	D	1	P;D	0.89917	0.704;1.0	B;D	0.87578	0.149;0.998	T	0.68618	-0.5361	10	0.72032	D	0.01	-4.1242	10.4862	0.44724	0.0:0.9002:0.0:0.0998	.	407;431	O14926;A8MRA6	FSCN2_HUMAN;.	F	407;431	ENSP00000388716:S407F;ENSP00000334665:S431F	ENSP00000334665:S431F	S	+	2	0	FSCN2	77114238	1.000000	0.71417	0.872000	0.34217	0.969000	0.65631	5.509000	0.67012	1.714000	0.51371	0.484000	0.47621	TCC		0.701	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394746.1	NM_012418	
LAMA3	3909	broad.mit.edu	37	18	21441699	21441699	+	Silent	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr18:21441699G>A	ENST00000313654.9	+	35	4753	c.4512G>A	c.(4510-4512)gcG>gcA	p.A1504A	LAMA3_ENST00000399516.3_Silent_p.A1504A	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1504	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GTATGGTGGCGGATCTCCAGG	0.587																																						uc002kuq.2																			0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(4510-4512)GCG>GCA		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						42.0	45.0	44.0					18																	21441699		2033	4192	6225	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21441699G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.4512G>A	18.37:g.21441699G>A						LAMA3_uc002kur.2_Silent_p.A1504A	p.A1504A	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			35	4598	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1504			Laminin IV type A.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.4512G>A	CCDS42419.1																																																																																				0.587	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	
DPP9	91039	broad.mit.edu	37	19	4704202	4704202	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:4704202G>A	ENST00000598800.1	-	7	959	c.454C>T	c.(454-456)Ctc>Ttc	p.L152F	DPP9_ENST00000262960.9_Missense_Mutation_p.L181F|DPP9_ENST00000597849.1_Missense_Mutation_p.L181F|DPP9_ENST00000594671.1_Missense_Mutation_p.L152F			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	152						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GCCTGGAAGAGGAAGAGGCCA	0.657																																						uc002mba.2																			0				skin(1)	1						c.(541-543)CTC>TTC		dipeptidylpeptidase 9							47.0	58.0	54.0					19																	4704202		2051	4193	6244	SO:0001583	missense	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4704202G>A	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.454C>T	19.37:g.4704202G>A	ENSP00000469603:p.Leu152Phe					DPP9_uc002mbb.2_Missense_Mutation_p.L181F|DPP9_uc002mbc.2_Missense_Mutation_p.L181F	p.L181F	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	6	799	-		Hepatocellular(1079;0.137)	152					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	37	c.541C>T		.	.	.	.	.	.	.	.	.	.	G	15.53	2.860326	0.51482	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.38401	1.14	4.5	3.45	0.39498	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.065030	0.64402	D	0.000006	T	0.63450	0.2512	M	0.87900	2.915	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.87578	0.992;0.998	T	0.70978	-0.4725	10	0.87932	D	0	-36.165	13.1753	0.59624	0.0:0.0:0.8397:0.1603	.	152;181	Q86TI2;Q1ZZB8	DPP9_HUMAN;.	F	260;122;181	ENSP00000262960:L181F	ENSP00000262960:L181F	L	-	1	0	DPP9	4655202	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	6.387000	0.73191	1.104000	0.41587	0.561000	0.74099	CTC		0.657	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2		
VAV1	7409	broad.mit.edu	37	19	6828671	6828671	+	Silent	SNP	C	C	T	rs61750002		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:6828671C>T	ENST00000602142.1	+	12	1213	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	VAV1_ENST00000304076.2_Silent_p.N377N|VAV1_ENST00000596764.1_Silent_p.N345N|VAV1_ENST00000599806.1_Silent_p.N322N|VAV1_ENST00000539284.1_Silent_p.N280N	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	377					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AGCGAGACAACGAGACACTGC	0.637																																						uc002mfu.1																			0				lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						c.(1129-1131)AAC>AAT		vav 1 guanine nucleotide exchange factor							133.0	132.0	133.0					19																	6828671		2203	4300	6503	SO:0001819	synonymous_variant	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6828671C>T		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1131C>T	19.37:g.6828671C>T						VAV1_uc010xjh.1_Silent_p.N345N|VAV1_uc010dva.1_Silent_p.N377N|VAV1_uc002mfv.1_Silent_p.N322N	p.N377N	NM_005428	NP_005419	P15498	VAV_HUMAN			12	1228	+			377					B4DVK9|M0QXX6|Q15860	Silent	SNP	ENST00000602142.1	37	c.1131C>T	CCDS12174.1																																																																																				0.637	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1		
IL12RB1	3594	broad.mit.edu	37	19	18174730	18174730	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:18174730G>A	ENST00000600835.2	-	14	1872	c.1574C>T	c.(1573-1575)gCg>gTg	p.A525V	IL12RB1_ENST00000593993.2_Missense_Mutation_p.A525V			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	525	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						CCTCAGCCACGCTGTGTCTGC	0.632																																						uc002nhw.1																			0				pancreas(1)	1						c.(1573-1575)GCG>GTG		interleukin 12 receptor, beta 1 isoform 1							33.0	37.0	35.0					19																	18174730		2082	4220	6302	SO:0001583	missense	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.chr19:18174730G>A	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.1574C>T	19.37:g.18174730G>A	ENSP00000470788:p.Ala525Val					IL12RB1_uc010xqb.1_Missense_Mutation_p.A525V|IL12RB1_uc002nhx.1_Missense_Mutation_p.A565V	p.A525V	NM_005535	NP_005526	P42701	I12R1_HUMAN			13	1638	-			525			Extracellular (Potential).|Fibronectin type-III 5.		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	ENST00000600835.2	37	c.1574C>T	CCDS54232.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916046	0.52546	.	.	ENSG00000096996	ENST00000430026	T	0.56103	0.48	3.21	-3.05	0.05396	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.782500	0.11031	N	0.607226	T	0.58850	0.2151	M	0.66939	2.045	0.09310	N	0.999999	D;D	0.76494	0.999;0.999	P;D	0.65773	0.898;0.938	T	0.50448	-0.8827	10	0.37606	T	0.19	-13.3869	3.4787	0.07594	0.4458:0.0:0.3741:0.18	.	525;525	P42701-2;P42701	.;I12R1_HUMAN	V	525	ENSP00000403103:A525V	ENSP00000403103:A525V	A	-	2	0	IL12RB1	18035730	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-0.177000	0.09796	-0.495000	0.06659	-0.424000	0.05967	GCG		0.632	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3		
RPSAP58	388524	broad.mit.edu	37	19	24010294	24010294	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:24010294C>G	ENST00000496398.1	+	4	754	c.331C>G	c.(331-333)Cag>Gag	p.Q111E	RP11-255H23.4_ENST00000599944.1_lincRNA|RP11-255H23.2_ENST00000471224.1_RNA|RPSAP58_ENST00000354585.4_Missense_Mutation_p.Q111E					ribosomal protein SA pseudogene 58									p.Q111E(12)		endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						CTTCACTAACCAGATCCAGGC	0.567																																						uc002nrn.2																			12	Substitution - Missense(12)		kidney(6)|urinary_tract(2)|prostate(2)|endometrium(2)		0						c.(331-333)CAG>GAG		ribosomal protein SA																																				SO:0001583	missense	388524							g.chr19:24010294C>G			19p12	2010-06-16			ENSG00000205246	ENSG00000205246			36809	pseudogene	pseudogene						19123937	Standard	NR_003662		Approved		uc002nrn.3		OTTHUMG00000158122	ENST00000496398.1:c.331C>G	19.37:g.24010294C>G	ENSP00000417240:p.Gln111Glu						p.Q111E	NM_002295	NP_002286					4	754	+									Missense_Mutation	SNP	ENST00000496398.1	37	c.331C>G		.	.	.	.	.	.	.	.	.	.	.	13.90	2.375690	0.42105	.	.	ENSG00000205246	ENST00000496398;ENST00000354585	T;T	0.21932	1.98;1.98	2.52	2.52	0.30459	.	0.000000	0.64402	U	0.000001	T	0.17619	0.0423	.	.	.	0.48830	D	0.999718	B	0.34226	0.443	B	0.32624	0.149	T	0.11084	-1.0602	9	0.72032	D	0.01	.	10.8987	0.47038	0.0:1.0:0.0:0.0	.	111	A6NE09	.	E	111	ENSP00000417240:Q111E;ENSP00000346598:Q111E	ENSP00000346598:Q111E	Q	+	1	0	RPSAP58	23802134	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	4.812000	0.62613	1.477000	0.48234	0.627000	0.83407	CAG		0.567	RPSAP58-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000350238.1	NR_003662	
POU2F2	5452	broad.mit.edu	37	19	42596307	42596307	+	Silent	SNP	T	T	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:42596307T>G	ENST00000526816.2	-	13	1329	c.1314A>C	c.(1312-1314)ccA>ccC	p.P438P	POU2F2_ENST00000560558.1_Silent_p.P383P|POU2F2_ENST00000389341.5_Silent_p.P422P|POU2F2_ENST00000560398.1_Silent_p.P444P|POU2F2_ENST00000529952.1_Silent_p.P438P|POU2F2_ENST00000342301.4_Silent_p.P438P|POU2F2_ENST00000529067.1_Intron|POU2F2_ENST00000533720.1_Silent_p.P422P			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	438					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)	TGGCCGGGGGTGGGGGAGTGA	0.701																																						uc002osp.2																			0				ovary(1)|skin(1)	2						c.(1312-1314)CCA>CCC		POU domain, class 2, transcription factor 2							19.0	23.0	21.0					19																	42596307		2203	4294	6497	SO:0001819	synonymous_variant	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42596307T>G		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.1314A>C	19.37:g.42596307T>G						POU2F2_uc002osn.2_Silent_p.P422P|POU2F2_uc002oso.2_Silent_p.P211P|POU2F2_uc002osq.2_Intron|POU2F2_uc002osr.1_Silent_p.P438P	p.P438P	NM_002698	NP_002689	P09086	PO2F2_HUMAN			13	1381	-		Prostate(69;0.059)	438					Q16648|Q7M4M8|Q9BRS4	Silent	SNP	ENST00000526816.2	37	c.1314A>C	CCDS56095.1																																																																																				0.701	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3		
IGFL3	388555	broad.mit.edu	37	19	46627409	46627409	+	Silent	SNP	A	A	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:46627409A>T	ENST00000341415.2	-	3	108	c.84T>A	c.(82-84)gcT>gcA	p.A28A	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	28						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		AGCCAACAGGAGCGTCTGGGG	0.507																																						uc002pea.1																			0					0						c.(82-84)GCT>GCA		IGF-like family member 3 precursor							77.0	73.0	74.0					19																	46627409		2185	4300	6485	SO:0001819	synonymous_variant	388555					extracellular region	protein binding	g.chr19:46627409A>T	AY358434	CCDS33058.1	19q13.32	2006-07-14				ENSG00000188624			32930	protein-coding gene	gene with protein product		610546				14702039	Standard	NM_207393		Approved	UNQ483	uc002pea.1	Q6UXB1		ENST00000341415.2:c.84T>A	19.37:g.46627409A>T							p.A28A	NM_207393	NP_997276	Q6UXB1	IGFL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)	3	109	-		Ovarian(192;0.0175)|all_neural(266;0.0476)	28						Silent	SNP	ENST00000341415.2	37	c.84T>A	CCDS33058.1																																																																																				0.507	IGFL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421323.1	NM_207393	
SULT2B1	6820	broad.mit.edu	37	19	49090651	49090651	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:49090651C>T	ENST00000201586.2	+	3	558	c.380C>T	c.(379-381)cCc>cTc	p.P127L	SULT2B1_ENST00000323090.4_Missense_Mutation_p.P112L	NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	127					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	alcohol sulfotransferase activity (GO:0004027)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		TCCCATCTTCCCATCCAGATC	0.612																																						uc002pjl.2																			0				skin(1)	1						c.(379-381)CCC>CTC		sulfotransferase family, cytosolic, 2B, member 1							98.0	87.0	90.0					19																	49090651		2203	4300	6503	SO:0001583	missense	6820				3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity	g.chr19:49090651C>T	U92314	CCDS12723.1, CCDS12724.1	19q13.3	2008-02-05				ENSG00000088002		"""Sulfotransferases, cytosolic"""	11459	protein-coding gene	gene with protein product		604125				9799594	Standard	NM_177973		Approved	HSST2	uc002pjl.3	O00204		ENST00000201586.2:c.380C>T	19.37:g.49090651C>T	ENSP00000201586:p.Pro127Leu					SULT2B1_uc002pjm.2_Missense_Mutation_p.P112L	p.P127L	NM_177973	NP_814444	O00204	ST2B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)	3	461	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	127					O00205|O75814	Missense_Mutation	SNP	ENST00000201586.2	37	c.380C>T	CCDS12723.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286856	0.59867	.	.	ENSG00000088002	ENST00000201586;ENST00000323090	D;D	0.85171	-1.95;-1.95	4.88	4.88	0.63580	Sulfotransferase domain (1);	0.132791	0.32175	N	0.006478	D	0.93304	0.7866	M	0.89353	3.025	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.94475	0.7688	10	0.87932	D	0	.	15.8803	0.79197	0.0:1.0:0.0:0.0	.	112;127	O00204-2;O00204	.;ST2B1_HUMAN	L	127;112	ENSP00000201586:P127L;ENSP00000312880:P112L	ENSP00000201586:P127L	P	+	2	0	SULT2B1	53782463	1.000000	0.71417	0.996000	0.52242	0.300000	0.27592	5.151000	0.64875	2.429000	0.82318	0.579000	0.79373	CCC		0.612	SULT2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466140.1	NM_004605	
KLK9	284366	broad.mit.edu	37	19	51509764	51509764	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:51509764G>A	ENST00000594211.1	-	3	416	c.416C>T	c.(415-417)cCa>cTa	p.P139L	CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000376832.4_Missense_Mutation_p.P139L|KLK9_ENST00000250366.6_Missense_Mutation_p.P139L			Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	139	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CTGCATGCCTGGGGAGACACA	0.602																																						uc002pux.1																			0				central_nervous_system(1)	1						c.(415-417)CCA>CTA		kallikrein-related peptidase 9 precursor							43.0	40.0	41.0					19																	51509764		2203	4297	6500	SO:0001583	missense	284366				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51509764G>A	AF135026	CCDS12816.1	19q13.33	2008-02-05	2006-10-27					"""Kallikreins"""	6370	protein-coding gene	gene with protein product		605504	"""kallikrein 9"""			16800724, 16800723	Standard	NM_012315		Approved	KLK-L3	uc002pux.1	Q9UKQ9		ENST00000594211.1:c.416C>T	19.37:g.51509764G>A	ENSP00000469417:p.Pro139Leu					KLK9_uc002puw.1_RNA|KLK9_uc010eol.1_Missense_Mutation_p.P110L|KLK9_uc002puv.1_5'Flank	p.P139L	NM_012315	NP_036447	Q9UKQ9	KLK9_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)	3	503	-		all_neural(266;0.0652)	139			Peptidase S1.		Q6QA55	Missense_Mutation	SNP	ENST00000594211.1	37	c.416C>T	CCDS12816.1	.	.	.	.	.	.	.	.	.	.	g	13.31	2.200512	0.38905	.	.	ENSG00000213022	ENST00000376832;ENST00000250366	D;D	0.88586	-2.4;-2.4	4.12	2.73	0.32206	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.77631	0.4159	N	0.12920	0.275	0.38269	D	0.942108	B;B	0.27068	0.167;0.167	B;B	0.30572	0.117;0.117	T	0.70048	-0.4979	9	0.33940	T	0.23	.	6.0757	0.19913	0.1953:0.0:0.8047:0.0	.	139;139	Q2XQG6;Q9UKQ9	.;KLK9_HUMAN	L	139	ENSP00000366028:P139L;ENSP00000250366:P139L	ENSP00000250366:P139L	P	-	2	0	KLK9	56201576	0.209000	0.23505	0.889000	0.34880	0.907000	0.53573	3.371000	0.52379	0.737000	0.32582	0.457000	0.33378	CCA		0.602	KLK9-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465226.1	NM_012315	
SIGLEC8	27181	broad.mit.edu	37	19	51957534	51957534	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:51957534G>T	ENST00000321424.3	-	6	1250	c.1184C>A	c.(1183-1185)gCa>gAa	p.A395E	SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.A286E|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.A302E	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	395					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CACGCCCGCTGCTGGCCTTGC	0.602																																						uc002pwt.2																			0				ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(1183-1185)GCA>GAA		sialic acid binding Ig-like lectin 8 precursor							110.0	102.0	104.0					19																	51957534		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51957534G>T	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1184C>A	19.37:g.51957534G>T	ENSP00000321077:p.Ala395Glu					SIGLEC8_uc010yda.1_Missense_Mutation_p.A286E|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.A302E	p.A395E	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	6	1251	-		all_neural(266;0.0199)	395			Cytoplasmic (Potential).		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.1184C>A	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	8.706	0.910948	0.17833	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.64991	1.25;-0.13;0.98	1.91	-0.661	0.11417	.	.	.	.	.	T	0.70928	0.3280	M	0.81802	2.56	0.09310	N	1	D;D;B	0.71674	0.998;0.988;0.126	P;P;B	0.61722	0.893;0.844;0.035	T	0.58451	-0.7634	9	0.48119	T	0.1	.	3.9338	0.09298	0.0:0.27:0.455:0.275	.	286;302;395	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	E	286;395;302	ENSP00000389142:A286E;ENSP00000321077:A395E;ENSP00000339448:A302E	ENSP00000321077:A395E	A	-	2	0	SIGLEC8	56649346	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.329000	0.02677	-0.070000	0.12908	0.502000	0.49764	GCA		0.602	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442	
ZNF845	91664	broad.mit.edu	37	19	53854579	53854579	+	Silent	SNP	T	T	C			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:53854579T>C	ENST00000595091.1	+	5	870	c.651T>C	c.(649-651)tgT>tgC	p.C217C	ZNF845_ENST00000458035.1_Silent_p.C217C			Q96IR2	ZN845_HUMAN	zinc finger protein 845	217					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(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CTTTCCAATGTAATGAGAGTG	0.353																																						uc010ydv.1																			0					0						c.(649-651)TGT>TGC		zinc finger protein 845							68.0	54.0	58.0					19																	53854579		692	1591	2283	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53854579T>C	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.651T>C	19.37:g.53854579T>C						ZNF845_uc010ydw.1_Silent_p.C217C	p.C217C	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN			4	768	+			217			C2H2-type 1; degenerate.			Silent	SNP	ENST00000595091.1	37	c.651T>C	CCDS46170.1																																																																																				0.353	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908	
NLRP9	338321	broad.mit.edu	37	19	56241342	56241342	+	Missense_Mutation	SNP	C	C	T	rs200243299		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:56241342C>T	ENST00000332836.2	-	3	1876	c.1849G>A	c.(1849-1851)Gtc>Atc	p.V617I		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	617						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CGCCAGTAGACGAGCTTCTCA	0.418																																						uc002qly.2																			0				skin(4)|ovary(2)|breast(1)	7						c.(1849-1851)GTC>ATC		NLR family, pyrin domain containing 9		C	ILE/VAL	0,4406		0,0,2203	71.0	74.0	73.0		1849	-6.8	0.0	19		73	3,8597	3.0+/-9.4	0,3,4297	yes	missense	NLRP9	NM_176820.2	29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	617/992	56241342	3,13003	2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56241342C>T	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1849G>A	19.37:g.56241342C>T	ENSP00000331857:p.Val617Ile						p.V617I	NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	3	1877	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	617					B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.1849G>A	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	c	0.175	-1.067857	0.01934	0.0	3.49E-4	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.52754	0.65	3.4	-6.8	0.01709	.	.	.	.	.	T	0.20251	0.0487	N	0.11789	0.175	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.11421	-1.0588	9	0.30854	T	0.27	.	2.3841	0.04361	0.1605:0.4208:0.2285:0.1902	.	617	Q7RTR0	NALP9_HUMAN	I	617	ENSP00000331857:V617I	ENSP00000331857:V617I	V	-	1	0	NLRP9	60933154	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.279000	0.01159	-2.053000	0.00901	-1.196000	0.01674	GTC		0.418	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820	
IAH1	285148	broad.mit.edu	37	2	9628296	9628296	+	Silent	SNP	A	A	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr2:9628296A>G	ENST00000497473.1	+	6	622	c.585A>G	c.(583-585)tcA>tcG	p.S195S	IAH1_ENST00000470914.1_Silent_p.S82S|IAH1_ENST00000482918.1_Silent_p.S82S|IAH1_ENST00000489468.1_3'UTR|IAH1_ENST00000545602.1_Silent_p.S82S	NM_001039613.1	NP_001034702.1	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	195					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTATTTATCAGATGGACTAC	0.448																																						uc002qzr.2																			0					0						c.(583-585)TCA>TCG		isoamyl acetate-hydrolyzing esterase 1 homolog							112.0	104.0	106.0					2																	9628296		1856	4099	5955	SO:0001819	synonymous_variant	285148				lipid catabolic process		hydrolase activity, acting on ester bonds	g.chr2:9628296A>G	BC111025	CCDS42651.1	2p25.1	2010-08-05			ENSG00000134330	ENSG00000134330			27696	protein-coding gene	gene with protein product						12477932	Standard	XR_426950		Approved		uc002qzr.3	Q2TAA2	OTTHUMG00000159076	ENST00000497473.1:c.585A>G	2.37:g.9628296A>G						IAH1_uc002qzs.2_Silent_p.S82S|IAH1_uc002qzt.2_Silent_p.S82S|IAH1_uc010yiz.1_RNA	p.S195S	NM_001039613	NP_001034702	Q2TAA2	IAH1_HUMAN			6	611	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		195					B4DMV3	Silent	SNP	ENST00000497473.1	37	c.585A>G	CCDS42651.1	.	.	.	.	.	.	.	.	.	.	A	10.15	1.271353	0.23221	.	.	ENSG00000134330	ENST00000481367	.	.	.	6.17	-6.04	0.02178	.	.	.	.	.	T	0.35624	0.0938	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46884	-0.9159	4	.	.	.	-21.3727	1.2851	0.02049	0.4451:0.1536:0.2569:0.1444	.	.	.	.	R	175	.	.	Q	+	2	0	IAH1	9545747	0.000000	0.05858	0.884000	0.34674	0.739000	0.42172	-2.327000	0.01113	-0.320000	0.08640	0.533000	0.62120	CAG		0.448	IAH1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353192.1	NM_001039613	
TTN	7273	broad.mit.edu	37	2	179542390	179542392	+	In_Frame_Del	DEL	CTT	CTT	-	rs397517549	byFrequency	TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr2:179542390_179542392delCTT	ENST00000591111.1	-	144	33520_33522	c.33296_33298delAAG	c.(33295-33300)gaagtc>gtc	p.E11099del	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_In_Frame_Del_p.E11416del|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_In_Frame_Del_p.E10172del|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	10217	Glu-rich.|Pro-rich.				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)			TCTGGAAGGACTTCTTCTTCAGG	0.443														15	0.00299521	0.0	0.0	5008	,	,		15455	0.0		0.0	False		,,,				2504	0.0153					uc010zfg.1																			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.(30514-30519)GAAGTC>GTC		titin isoform N2-A																																				SO:0001651	inframe_deletion	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179542390_179542392delCTT	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.33296_33298delAAG	2.37:g.179542396_179542398delCTT	ENSP00000465570:p.Glu11099del					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_In_Frame_Del_p.E6833del|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	p.E10172del	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		143	30739_30741	-			11099					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	In_Frame_Del	DEL	ENST00000591111.1	37	c.30515_30517delAAG																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
COL3A1	1281	broad.mit.edu	37	2	189859008	189859008	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr2:189859008C>T	ENST00000304636.3	+	18	1413	c.1243C>T	c.(1243-1245)Cct>Tct	p.P415S	COL3A1_ENST00000317840.5_Missense_Mutation_p.P415S	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	415	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AGCCCGGGGTCCTCCAGGACC	0.498																																						uc002uqj.1																			0				central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(1243-1245)CCT>TCT		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						74.0	83.0	80.0					2																	189859008		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189859008C>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1243C>T	2.37:g.189859008C>T	ENSP00000304408:p.Pro415Ser					COL3A1_uc010frw.1_RNA	p.P415S	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		18	1360	+			415			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.1243C>T	CCDS2297.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.15|17.15	3.316824|3.316824	0.60524|0.60524	.|.	.|.	ENSG00000168542|ENSG00000168542	ENST00000304636;ENST00000317840|ENST00000450867	D;D|.	0.98649|.	-5.05;-5.05|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|.	0.51477|.	D|.	0.000094|.	T|T	0.75613|0.75613	0.3873|0.3873	M|M	0.67953|0.67953	2.075|2.075	0.50632|0.50632	D|D	0.999883|0.999883	P|.	0.51791|.	0.948|.	P|.	0.54140|.	0.743|.	T|T	0.72912|0.72912	-0.4148|-0.4148	10|5	0.16420|.	T|.	0.52|.	.|.	19.8898|19.8898	0.96926|0.96926	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	415|.	P02461|.	CO3A1_HUMAN|.	S|F	415|81	ENSP00000304408:P415S;ENSP00000315243:P415S|.	ENSP00000304408:P415S|.	P|S	+|+	1|2	0|0	COL3A1|COL3A1	189567253|189567253	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.853000|4.853000	0.62911|0.62911	2.775000|2.775000	0.95449|0.95449	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.498	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	
TSHZ2	128553	broad.mit.edu	37	20	51870661	51870661	+	Missense_Mutation	SNP	G	G	A	rs141167641	byFrequency	TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr20:51870661G>A	ENST00000371497.5	+	2	1551	c.664G>A	c.(664-666)Gcg>Acg	p.A222T	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A219T|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A219T	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	222					multicellular organismal development (GO:0007275)|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.A222T(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACAGTGCAGCGCGGCCTATGA	0.562													G|||	4	0.000798722	0.0	0.0	5008	,	,		19301	0.0		0.001	False		,,,				2504	0.0031					uc002xwo.2																			1	Substitution - Missense(1)	p.A222T(1)	ovary(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(664-666)GCG>ACG		teashirt zinc finger homeobox 2							57.0	52.0	53.0					20																	51870661		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870661G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.664G>A	20.37:g.51870661G>A	ENSP00000360552:p.Ala222Thr						p.A222T	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	1620	+			222			C2H2-type 1.		B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.664G>A	CCDS33490.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	24.9	4.584970	0.86748	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.16073	2.37;2.37	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.17715	-1.0360	10	0.66056	D	0.02	-21.8975	19.0899	0.93223	0.0:0.0:1.0:0.0	.	222	Q9NRE2	TSH2_HUMAN	T	222;219	ENSP00000360552:A222T;ENSP00000333114:A219T	ENSP00000333114:A219T	A	+	1	0	TSHZ2	51304068	1.000000	0.71417	0.730000	0.30809	0.640000	0.38277	9.414000	0.97362	2.579000	0.87056	0.643000	0.83706	GCG		0.562	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485	
PCK1	5105	broad.mit.edu	37	20	56137157	56137157	+	Silent	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr20:56137157G>A	ENST00000319441.4	+	3	419	c.255G>A	c.(253-255)gtG>gtA	p.V85V	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	85					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCAGGGATGTGGCCAGGATCG	0.572																																						uc002xyn.3																			0				skin(1)	1						c.(253-255)GTG>GTA		cytosolic phosphoenolpyruvate carboxykinase 1							90.0	78.0	82.0					20																	56137157		2203	4300	6503	SO:0001819	synonymous_variant	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56137157G>A		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.255G>A	20.37:g.56137157G>A						PCK1_uc010zzm.1_Intron	p.V85V	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		3	418	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		85					A8K437|B4DT64|Q8TCA3|Q9UJD2	Silent	SNP	ENST00000319441.4	37	c.255G>A	CCDS13460.1																																																																																				0.572	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2		
SYCP2	10388	broad.mit.edu	37	20	58467201	58467201	+	Silent	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr20:58467201C>T	ENST00000357552.3	-	24	2433	c.2208G>A	c.(2206-2208)tcG>tcA	p.S736S	SYCP2_ENST00000371001.2_Silent_p.S736S			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	736					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TATATATCAGCGATTCTTCAA	0.348																																						uc002yaz.2																			0				ovary(3)|lung(2)	5						c.(2206-2208)TCG>TCA		synaptonemal complex protein 2							111.0	112.0	112.0					20																	58467201		2201	4300	6501	SO:0001819	synonymous_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58467201C>T	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2208G>A	20.37:g.58467201C>T							p.S736S	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		23	2347	-	all_lung(29;0.00344)		736					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Silent	SNP	ENST00000357552.3	37	c.2208G>A	CCDS13482.1																																																																																				0.348	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	
KRTAP26-1	388818	broad.mit.edu	37	21	31692021	31692021	+	Silent	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr21:31692021G>A	ENST00000360542.3	-	1	586	c.333C>T	c.(331-333)tcC>tcT	p.S111S		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	111						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GTGGTCTACAGGATACTGGAA	0.547																																						uc002ynw.2																			0				ovary(1)	1						c.(331-333)TCC>TCT		keratin associated protein 26-1							114.0	117.0	116.0					21																	31692021		2203	4300	6503	SO:0001819	synonymous_variant	388818					intermediate filament		g.chr21:31692021G>A	AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"""Keratin associated proteins"""	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.333C>T	21.37:g.31692021G>A							p.S111S	NM_203405	NP_981950	Q6PEX3	KR261_HUMAN			1	587	-			111					B0RZD3	Silent	SNP	ENST00000360542.3	37	c.333C>T	CCDS13588.1																																																																																				0.547	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405	
BPIFC	254240	broad.mit.edu	37	22	32828374	32828374	+	Missense_Mutation	SNP	C	C	T	rs370577187	byFrequency	TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr22:32828374C>T	ENST00000397452.1	-	11	1245	c.1135G>A	c.(1135-1137)Gtt>Att	p.V379I	BPIFC_ENST00000300399.3_Missense_Mutation_p.V379I|BPIFC_ENST00000432451.2_Intron|BPIFC_ENST00000534972.1_Missense_Mutation_p.V103I			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	379						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TCCATGGAAACGATGGTTTCA	0.512													C|||	2	0.000399361	0.0	0.0	5008	,	,		19575	0.0		0.0	False		,,,				2504	0.002					uc003amn.2																			0				ovary(1)|skin(1)	2						c.(1135-1137)GTT>ATT		bactericidal/permeability-increasing		C	ILE/VAL	0,4406		0,0,2203	197.0	177.0	184.0		1135	3.7	1.0	22		184	1,8599	1.2+/-3.3	0,1,4299	no	missense	BPIFC	NM_174932.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	379/508	32828374	1,13005	2203	4300	6503	SO:0001583	missense	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32828374C>T	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.1135G>A	22.37:g.32828374C>T	ENSP00000380594:p.Val379Ile					BPIL2_uc010gwo.2_Intron|BPIL2_uc011amb.1_Missense_Mutation_p.V103I	p.V379I	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN			10	1135	-			379					A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	c.1135G>A	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998085	0.54147	0.0	1.16E-4	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000534972	T;T;T	0.07800	3.16;3.16;3.16	5.86	3.65	0.41850	.	0.117701	0.56097	D	0.000024	T	0.13543	0.0328	M	0.81802	2.56	0.28894	N	0.893687	D	0.54397	0.966	P	0.45506	0.483	T	0.09773	-1.0659	10	0.24483	T	0.36	-17.7348	9.2459	0.37525	0.1534:0.5499:0.2967:0.0	.	379	Q8NFQ6	BPIFC_HUMAN	I	379;379;103	ENSP00000380594:V379I;ENSP00000300399:V379I;ENSP00000439123:V103I	ENSP00000300399:V379I	V	-	1	0	BPIFC	31158374	0.828000	0.29307	0.994000	0.49952	0.980000	0.70556	0.691000	0.25467	1.486000	0.48398	0.650000	0.86243	GTT		0.512	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932	
PRR34	55267	broad.mit.edu	37	22	46449890	46449890	+	Frame_Shift_Del	DEL	G	G	-	rs374981205	byFrequency	TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr22:46449890delG	ENST00000396008.2	-	1	134	c.84delC	c.(82-84)cccfs	p.P28fs	C22orf26_ENST00000333761.1_Frame_Shift_Del_p.P28fs|RP6-109B7.3_ENST00000445441.1_RNA|RP6-109B7.5_ENST00000608644.1_RNA|RP6-109B7.3_ENST00000416202.1_RNA|RP6-109B7.3_ENST00000451166.1_RNA|RP6-109B7.2_ENST00000439423.1_lincRNA|FLJ27365_ENST00000381051.2_Intron			Q9NV39	PRR34_HUMAN		28	Pro-rich.		P -> L (in dbSNP:rs12159707).										Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.0784)|LUAD - Lung adenocarcinoma(64;0.247)		TTGCGGGGTTGGGGGGGGAGG	0.751																																						uc003bgq.1																			0					0						c.(82-84)CCCfs		hypothetical protein LOC55267				54,25,3479		10,0,34,1,23,1711	5.0	5.0	5.0			-3.8	0.0	22		5	41,55,7048		5,0,31,4,47,3485	no	codingComplex	C22orf26	NM_018280.2		15,0,65,5,70,5196	A1A1,A1A2,A1R,A2A2,A2R,RR		1.3438,2.2203,1.6352			46449890	95,80,10527	1914	3875	5789	SO:0001589	frameshift_variant	55267							g.chr22:46449890delG																												ENST00000396008.2:c.84delC	22.37:g.46449890delG	ENSP00000379329:p.Pro28fs					LOC150381_uc011aqw.1_Intron|LOC400931_uc003bgr.3_Intron	p.P28fs	NM_018280	NP_060750	Q9NV39	CV026_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.0784)|LUAD - Lung adenocarcinoma(64;0.247)	1	135	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	28			Pro-rich.		B0QZ24	Frame_Shift_Del	DEL	ENST00000396008.2	37	c.84delC	CCDS14071.1																																																																																				0.751	C22orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317994.1		
NUP210	23225	broad.mit.edu	37	3	13427820	13427820	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr3:13427820A>G	ENST00000254508.5	-	6	854	c.772T>C	c.(772-774)Tcc>Ccc	p.S258P		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	258					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TAGTGAATGGAGGTTCCCACC	0.468																																						uc003bxv.1																			0				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(772-774)TCC>CCC		nucleoporin 210 precursor							210.0	184.0	193.0					3																	13427820		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13427820A>G	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.772T>C	3.37:g.13427820A>G	ENSP00000254508:p.Ser258Pro						p.S258P	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			6	855	-	all_neural(104;0.187)		258			Lumenal (Probable).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.772T>C	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.628626	0.28978	.	.	ENSG00000132182	ENST00000254508	T	0.05855	3.38	5.31	2.85	0.33270	.	0.104567	0.64402	D	0.000002	T	0.16896	0.0406	M	0.63428	1.95	0.52099	D	0.999946	D	0.64830	0.994	P	0.61658	0.892	T	0.00333	-1.1810	10	0.36615	T	0.2	1.0E-4	11.9124	0.52747	0.705:0.295:0.0:0.0	.	258	Q8TEM1	PO210_HUMAN	P	258	ENSP00000254508:S258P	ENSP00000254508:S258P	S	-	1	0	NUP210	13402820	1.000000	0.71417	0.507000	0.27676	0.016000	0.09150	4.428000	0.59894	0.302000	0.22762	-0.331000	0.08364	TCC		0.468	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923	
NKTR	4820	broad.mit.edu	37	3	42678511	42678511	+	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr3:42678511delA	ENST00000232978.8	+	13	1503	c.1315delA	c.(1315-1317)aaafs	p.K441fs	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	441	Arg/Lys-rich (basic).				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GGTTAAGCATAAAAAGAAAGG	0.368																																						uc003clo.2																			0				ovary(2)|skin(1)	3						c.(1315-1317)AAAfs		natural killer-tumor recognition sequence							48.0	47.0	47.0					3																	42678511		2203	4300	6503	SO:0001589	frameshift_variant	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42678511delA		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.1315delA	3.37:g.42678511delA	ENSP00000232978:p.Lys441fs					NKTR_uc003clm.1_Frame_Shift_Del_p.K186fs|NKTR_uc003clp.2_Frame_Shift_Del_p.K186fs|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Frame_Shift_Del_p.K329fs|NKTR_uc003clr.1_Frame_Shift_Del_p.K186fs|NKTR_uc003cls.2_Frame_Shift_Del_p.K139fs	p.K439fs	NM_005385	NP_005376	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	1462	+			439			Arg/Lys-rich (basic).			Frame_Shift_Del	DEL	ENST00000232978.8	37	c.1315delA	CCDS2702.1																																																																																				0.368	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385	
ALAS1	211	broad.mit.edu	37	3	52242221	52242221	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr3:52242221G>A	ENST00000394965.2	+	9	1648	c.1288G>A	c.(1288-1290)Gat>Aat	p.D430N	ALAS1_ENST00000310271.2_Missense_Mutation_p.D430N|ALAS1_ENST00000484952.1_Missense_Mutation_p.D430N|ALAS1_ENST00000469224.1_Missense_Mutation_p.D430N	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	430					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	TGGGGATCGGGATGGAGTCAT	0.483																																						uc003dcy.1																			0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1288-1290)GAT>AAT		5-aminolevulinate synthase 1 precursor	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						141.0	128.0	132.0					3																	52242221		2203	4300	6503	SO:0001583	missense	211				heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr3:52242221G>A	X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.1288G>A	3.37:g.52242221G>A	ENSP00000378416:p.Asp430Asn					ALAS1_uc003dcz.1_Missense_Mutation_p.D430N|ALAS1_uc011bec.1_Missense_Mutation_p.D447N	p.D430N	NM_000688	NP_000679	P13196	HEM1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	9	1625	+			430						Missense_Mutation	SNP	ENST00000394965.2	37	c.1288G>A	CCDS2847.1	.	.	.	.	.	.	.	.	.	.	G	35	5.433973	0.96150	.	.	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952	D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58	5.11	5.11	0.69529	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.97816	0.9283	M	0.91612	3.225	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.979	D	0.98880	1.0769	10	0.87932	D	0	-17.307	18.1523	0.89678	0.0:0.0:1.0:0.0	.	447;430	B4DVA0;P13196	.;HEM1_HUMAN	N	430	ENSP00000417719:D430N;ENSP00000378416:D430N;ENSP00000309259:D430N;ENSP00000418779:D430N	ENSP00000309259:D430N	D	+	1	0	ALAS1	52217261	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	9.852000	0.99516	2.372000	0.80975	0.655000	0.94253	GAT		0.483	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1		
DNAH1	25981	broad.mit.edu	37	3	52422839	52422839	+	Silent	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr3:52422839G>A	ENST00000420323.2	+	59	9642	c.9381G>A	c.(9379-9381)tcG>tcA	p.S3127S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3192					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)		ACGGGCTGTCGGATGAGAAGG	0.667																																						uc011bef.1																			0				large_intestine(3)	3						c.(9379-9381)TCG>TCA		dynein, axonemal, heavy chain 1							44.0	52.0	49.0					3																	52422839		2090	4209	6299	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.chr3:52422839G>A	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.9381G>A	3.37:g.52422839G>A						DNAH1_uc003ddv.2_5'UTR	p.S3127S	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)	59	9642	+			3192			Potential.		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.9381G>A	CCDS46842.1																																																																																				0.667	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
SERPINI1	5274	broad.mit.edu	37	3	167525043	167525043	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr3:167525043A>C	ENST00000295777.5	+	6	1324	c.893A>C	c.(892-894)gAa>gCa	p.E298A	SERPINI1_ENST00000446050.2_Missense_Mutation_p.E298A|SERPINI1_ENST00000488374.1_3'UTR	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	298					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TTCACAGTGGAACAGGAAATT	0.338																																						uc003ffa.3																			0				skin(1)	1						c.(892-894)GAA>GCA		neuroserpin precursor							62.0	68.0	66.0					3																	167525043		2203	4295	6498	SO:0001583	missense	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167525043A>C	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.893A>C	3.37:g.167525043A>C	ENSP00000295777:p.Glu298Ala					SERPINI1_uc003ffb.3_Missense_Mutation_p.E298A	p.E298A	NM_001122752	NP_001116224	Q99574	NEUS_HUMAN			6	1091	+			298					A8K217|D3DNP1|Q6AHZ4	Missense_Mutation	SNP	ENST00000295777.5	37	c.893A>C	CCDS3203.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701202	0.68501	.	.	ENSG00000163536	ENST00000446050;ENST00000295777;ENST00000466979	T;T	0.78364	-1.17;-1.17	5.36	5.36	0.76844	Serpin domain (3);	0.046212	0.85682	D	0.000000	D	0.89591	0.6759	M	0.90977	3.165	0.58432	D	0.999995	D	0.67145	0.996	D	0.68353	0.957	D	0.91794	0.5446	10	0.87932	D	0	.	13.5774	0.61883	1.0:0.0:0.0:0.0	.	298	Q99574	NEUS_HUMAN	A	298;298;46	ENSP00000397373:E298A;ENSP00000295777:E298A	ENSP00000295777:E298A	E	+	2	0	SERPINI1	169007737	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.408000	0.66368	2.025000	0.59659	0.533000	0.62120	GAA		0.338	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1		
ATP8A1	10396	broad.mit.edu	37	4	42581956	42581956	+	Missense_Mutation	SNP	G	G	A	rs374228770		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr4:42581956G>A	ENST00000381668.5	-	11	1105	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	ATP8A1_ENST00000264449.10_Missense_Mutation_p.R292W	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	292					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R292W(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TTTGTAATCCGTTCCACATTT	0.343																																						uc003gwr.2																			1	Substitution - Missense(1)		pancreas(1)	skin(2)|central_nervous_system(1)	3						c.(874-876)CGG>TGG		ATPase, aminophospholipid transporter (APLT),	Phosphatidylserine(DB00144)	G	TRP/ARG,TRP/ARG	1,4403	2.1+/-5.4	0,1,2201	52.0	51.0	52.0		874,874	2.8	1.0	4		52	0,8600		0,0,4300	no	missense,missense	ATP8A1	NM_001105529.1,NM_006095.2	101,101	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	292/1150,292/1165	42581956	1,13003	2202	4300	6502	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42581956G>A	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.874C>T	4.37:g.42581956G>A	ENSP00000371084:p.Arg292Trp					ATP8A1_uc003gws.2_Missense_Mutation_p.R292W|ATP8A1_uc011byz.1_Missense_Mutation_p.R292W	p.R292W	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN			11	1106	-			292			Cytoplasmic (Potential).		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.874C>T	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604489	0.66445	2.27E-4	0.0	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.76060	-0.99;-0.99	5.66	2.78	0.32641	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.89825	0.6827	H	0.95539	3.685	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.81914	0.995;0.978;0.953	D	0.93227	0.6614	10	0.87932	D	0	.	16.5221	0.84320	0.0:0.0:0.5557:0.4443	.	292;292;292	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	W	292	ENSP00000371084:R292W;ENSP00000264449:R292W	ENSP00000264449:R292W	R	-	1	2	ATP8A1	42276713	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	2.628000	0.46477	0.816000	0.34421	0.650000	0.86243	CGG		0.343	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095	
CENPE	1062	broad.mit.edu	37	4	104065619	104065619	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr4:104065619G>A	ENST00000265148.3	-	33	5103	c.5014C>T	c.(5014-5016)Cag>Tag	p.Q1672*	CENPE_ENST00000380026.3_Nonsense_Mutation_p.Q1647*	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1672					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTAGTATCTGAGTCAACCTT	0.393																																						uc003hxb.1																			0				ovary(5)|breast(4)	9						c.(5014-5016)CAG>TAG		centromere protein E							182.0	175.0	177.0					4																	104065619		2203	4300	6503	SO:0001587	stop_gained	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104065619G>A	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.5014C>T	4.37:g.104065619G>A	ENSP00000265148:p.Gln1672*					CENPE_uc003hxc.1_Nonsense_Mutation_p.Q1647*	p.Q1672*	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	33	5104	-			1672			Potential.		A6NKY9|A8K2U7|Q4LE75	Nonsense_Mutation	SNP	ENST00000265148.3	37	c.5014C>T	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	42	9.646144	0.99229	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	.	.	.	5.13	2.33	0.28932	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	15.6834	0.77391	0.0:0.5193:0.4807:0.0	.	.	.	.	X	1672;1672;1647	.	ENSP00000265148:Q1672X	Q	-	1	0	CENPE	104285068	0.997000	0.39634	0.335000	0.25508	0.503000	0.33858	1.857000	0.39399	0.154000	0.19237	0.544000	0.68410	CAG		0.393	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
CEP170P1	645455	broad.mit.edu	37	4	119444540	119444540	+	RNA	SNP	G	G	A	rs567977490		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr4:119444540G>A	ENST00000412784.2	+	0	113					NR_003135.2		Q96L14	C170L_HUMAN	centrosomal protein 170kDa pseudogene 1								identical protein binding (GO:0042802)										TTCAAACACCGGATTAAAGAG	0.443																																						uc003icb.2																			0					0						c.(28-30)CGG>CAG		RecName: Full=Cep170-like protein;																																						645455							g.chr4:119444540G>A	BC014590		4q26	2010-10-11	2010-10-11	2010-10-11	ENSG00000154608	ENSG00000154608			28364	pseudogene	pseudogene			"""KIAA0470-like"", ""centrosomal protein 170kDa-like"""	KIAA0470L, CEP170L			Standard	NR_003135		Approved	MGC26143, FAM68B	uc003icb.3	Q96L14	OTTHUMG00000132958		4.37:g.119444540G>A							p.R10Q	NR_003135						2	113	+									Missense_Mutation	SNP	ENST00000412784.2	37	c.29G>A																																																																																					0.443	CEP170P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000364033.2	NR_003135.2	
KIAA1109	84162	broad.mit.edu	37	4	123184110	123184110	+	Silent	SNP	T	T	C			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr4:123184110T>C	ENST00000264501.4	+	43	7327	c.6954T>C	c.(6952-6954)gcT>gcC	p.A2318A	KIAA1109_ENST00000388738.3_Silent_p.A2318A|KIAA1109_ENST00000455637.1_Silent_p.A2318A			Q2LD37	K1109_HUMAN	KIAA1109	2318					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCAGTGCTGCTGTGAAAAGTA	0.463																																						uc003ieh.2																			0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(6952-6954)GCT>GCC		fragile site-associated protein							91.0	94.0	93.0					4																	123184110		1950	4143	6093	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123184110T>C	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.6954T>C	4.37:g.123184110T>C						KIAA1109_uc003iel.1_Silent_p.A253A|KIAA1109_uc003iek.2_Silent_p.A937A	p.A2318A	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			41	6999	+			2318					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.6954T>C	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.416|5.416	0.261984|0.261984	0.10239|0.10239	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000419325|ENST00000446180	.|.	.|.	.|.	5.31|5.31	-3.97|-3.97	0.04094|0.04094	.|.	.|.	.|.	.|.	.|.	T|T	0.36220|0.36220	0.0959|0.0959	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.40590|0.40590	-0.9555|-0.9555	4|4	.|.	.|.	.|.	.|.	0.7377|0.7377	0.00968|0.00968	0.3517:0.1289:0.1745:0.3448|0.3517:0.1289:0.1745:0.3448	.|.	.|.	.|.	.|.	R|P	276|891	.|.	.|.	C|L	+|+	1|2	0|0	KIAA1109|KIAA1109	123403560|123403560	0.267000|0.267000	0.24122|0.24122	0.995000|0.995000	0.50966|0.50966	0.482000|0.482000	0.33219|0.33219	-0.397000|-0.397000	0.07269|0.07269	-0.209000|-0.209000	0.10156|0.10156	-0.333000|-0.333000	0.08304|0.08304	TGT|CTG		0.463	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
KIAA1109	84162	broad.mit.edu	37	4	123192519	123192519	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr4:123192519C>T	ENST00000264501.4	+	47	8213	c.7840C>T	c.(7840-7842)Cgg>Tgg	p.R2614W	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R2614W|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R2614W			Q2LD37	K1109_HUMAN	KIAA1109	2614					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CAGAAAACATCGGGACTTTCG	0.403																																						uc003ieh.2																			0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(7840-7842)CGG>TGG		fragile site-associated protein							92.0	85.0	87.0					4																	123192519		1879	4103	5982	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123192519C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.7840C>T	4.37:g.123192519C>T	ENSP00000264501:p.Arg2614Trp					KIAA1109_uc003iel.1_Missense_Mutation_p.R549W|KIAA1109_uc003iek.2_Missense_Mutation_p.R1233W	p.R2614W	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			45	7885	+			2614					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.7840C>T	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.80|17.80	3.477268|3.477268	0.63849|0.63849	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000419325	T;T;T|.	0.24723|.	2.43;2.43;1.84|.	5.97|5.97	4.18|4.18	0.49190|0.49190	.|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.48677|0.48677	0.1513|0.1513	N|N	0.19112|0.19112	0.55|0.55	0.44469|0.44469	D|D	0.997401|0.997401	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.83275|.	0.992;0.996;0.993|.	T|T	0.34428|0.34428	-0.9829|-0.9829	10|5	0.87932|.	D|.	0|.	.|.	14.0565|14.0565	0.64772|0.64772	0.5603:0.4397:0.0:0.0|0.5603:0.4397:0.0:0.0	.|.	2614;2613;2614|.	Q2LD37-6;Q2LD37-2;Q2LD37|.	.;.;K1109_HUMAN|.	W|L	2614|571	ENSP00000264501:R2614W;ENSP00000373390:R2614W;ENSP00000389925:R2614W|.	ENSP00000264501:R2614W|.	R|S	+|+	1|2	2|0	KIAA1109|KIAA1109	123411969|123411969	0.975000|0.975000	0.34042|0.34042	0.996000|0.996000	0.52242|0.52242	0.998000|0.998000	0.95712|0.95712	1.393000|1.393000	0.34497|0.34497	0.788000|0.788000	0.33755|0.33755	0.585000|0.585000	0.79938|0.79938	CGG|TCG		0.403	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
SLC10A7	84068	broad.mit.edu	37	4	147227117	147227117	+	Silent	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr4:147227117C>T	ENST00000507030.1	-	7	515	c.516G>A	c.(514-516)caG>caA	p.Q172Q	SLC10A7_ENST00000335472.7_Silent_p.Q172Q|SLC10A7_ENST00000394062.3_Silent_p.Q172Q|SLC10A7_ENST00000432059.2_Silent_p.Q159Q|SLC10A7_ENST00000264986.3_3'UTR			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	172					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					TCATAAAAAGCTGAGAAAAAA	0.338																																						uc010ioz.2																			0					0						c.(514-516)CAG>CAA		solute carrier family 10 (sodium/bile acid							79.0	75.0	77.0					4																	147227117		2203	4300	6503	SO:0001819	synonymous_variant	84068					integral to membrane	bile acid:sodium symporter activity	g.chr4:147227117C>T	AY346324	CCDS3768.1, CCDS34073.1, CCDS75198.1	4q31.2	2013-07-18	2013-07-18	2006-12-19	ENSG00000120519	ENSG00000120519		"""Solute carriers"""	23088	protein-coding gene	gene with protein product		611459	"""chromosome 4 open reading frame 13"""	C4orf13		15932064	Standard	NM_032128		Approved	MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438	uc003ikr.2	Q0GE19	OTTHUMG00000161437	ENST00000507030.1:c.516G>A	4.37:g.147227117C>T						SLC10A7_uc003ikr.2_Silent_p.Q172Q|SLC10A7_uc010ipa.2_Silent_p.Q159Q|SLC10A7_uc003iks.2_RNA	p.Q172Q	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN			7	770	-	all_hematologic(180;0.151)		172			Helical; (Potential).		A7E2E6|A7MAX9|Q0VAP9|Q45NG1|Q45NG2|Q5H9S6|Q6P4E6|Q8IZ62|Q8NBP8|Q9H0M9	Silent	SNP	ENST00000507030.1	37	c.516G>A	CCDS34073.1																																																																																				0.338	SLC10A7-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366932.1	NM_032128	
WWC2	80014	broad.mit.edu	37	4	184201996	184201998	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr4:184201996_184201998delAAG	ENST00000403733.3	+	17	2829_2831	c.2630_2632delAAG	c.(2629-2634)caagaa>caa	p.E882del	WWC2_ENST00000508747.1_5'Flank|WWC2_ENST00000448232.2_In_Frame_Del_p.E882del|WWC2_ENST00000504005.1_In_Frame_Del_p.E564del|WWC2_ENST00000513834.1_In_Frame_Del_p.E833del	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	882					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		gaattagcacaagaagaagaaga	0.424																																						uc010irx.2																			0				ovary(2)|lung(1)	3						c.(2629-2634)CAAGAA>CAA		WW and C2 domain containing 2																																				SO:0001651	inframe_deletion	80014							g.chr4:184201996_184201998delAAG	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.2630_2632delAAG	4.37:g.184202005_184202007delAAG	ENSP00000384222:p.Glu882del					WWC2_uc003ivk.3_In_Frame_Del_p.E677del|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_In_Frame_Del_p.E564del|WWC2_uc003ivn.3_In_Frame_Del_p.E397del|WWC2_uc010irz.2_In_Frame_Del_p.E199del|WWC2_uc003ivo.3_5'Flank	p.E882del	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	17	2812_2814	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	882			Potential.		Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	In_Frame_Del	DEL	ENST00000403733.3	37	c.2630_2632delAAG	CCDS34109.2																																																																																				0.424	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949	
ZFR	51663	broad.mit.edu	37	5	32388633	32388636	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:32388633_32388636delCAGA	ENST00000265069.8	-	13	2389_2392	c.2287_2290delTCTG	c.(2287-2292)tctgaafs	p.SE763fs		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	763	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TTCTCATGTTCAGACAAACTGTCT	0.358																																						uc003jhr.1																			0					0						c.(2287-2292)TCTGAAfs		zinc finger RNA binding protein																																				SO:0001589	frameshift_variant	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32388633_32388636delCAGA	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2287_2290delTCTG	5.37:g.32388633_32388636delCAGA	ENSP00000265069:p.Ser763fs					ZFR_uc011cny.1_RNA	p.S763fs	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	13	2367_2370	-			763_764					B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Frame_Shift_Del	DEL	ENST00000265069.8	37	c.2287_2290delTCTG	CCDS34139.1																																																																																				0.358	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1		
ADAMTS12	81792	broad.mit.edu	37	5	33881270	33881270	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:33881270T>C	ENST00000504830.1	-	2	778	c.443A>G	c.(442-444)cAg>cGg	p.Q148R	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q148R|ADAMTS12_ENST00000515401.1_Missense_Mutation_p.Q148R	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	148					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTGGTGCCCTGCTGTAGAAC	0.577										HNSCC(64;0.19)																												uc003jia.1																			0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(442-444)CAG>CGG		ADAM metallopeptidase with thrombospondin type 1							58.0	56.0	57.0					5																	33881270		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33881270T>C	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.443A>G	5.37:g.33881270T>C	ENSP00000422554:p.Gln148Arg	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.Q148R|ADAMTS12_uc003jib.1_Missense_Mutation_p.Q148R	p.Q148R	NM_030955	NP_112217	P58397	ATS12_HUMAN			2	606	-			148					A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.443A>G	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.501441	0.44455	.	.	ENSG00000151388	ENST00000504830;ENST00000352040;ENST00000515401	T;T;T	0.05996	3.36;3.36;3.36	5.65	2.09	0.27110	Peptidase M12B, propeptide (1);	0.484707	0.22074	N	0.064986	T	0.05502	0.0145	L	0.48986	1.54	0.09310	N	0.999999	B;P;B	0.38677	0.004;0.642;0.085	B;B;B	0.37550	0.006;0.253;0.158	T	0.32824	-0.9892	10	0.12430	T	0.62	.	6.0121	0.19582	0.0:0.1832:0.3394:0.4773	.	148;148;148	P58397-3;D6REX0;P58397	.;.;ATS12_HUMAN	R	148	ENSP00000422554:Q148R;ENSP00000344847:Q148R;ENSP00000421638:Q148R	ENSP00000344847:Q148R	Q	-	2	0	ADAMTS12	33917027	0.101000	0.21875	0.992000	0.48379	0.892000	0.51952	0.876000	0.28092	0.433000	0.26313	0.383000	0.25322	CAG		0.577	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
GPR98	84059	broad.mit.edu	37	5	90046453	90046453	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:90046453G>A	ENST00000405460.2	+	53	11156	c.11060G>A	c.(11059-11061)cGt>cAt	p.R3687H		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3687	Calx-beta 24. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACATATGGCCGTATAACCATA	0.343																																						uc003kju.2																			0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(11059-11061)CGT>CAT		G protein-coupled receptor 98 precursor							188.0	186.0	186.0					5																	90046453		1869	4103	5972	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90046453G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11060G>A	5.37:g.90046453G>A	ENSP00000384582:p.Arg3687His					GPR98_uc003kjt.2_Missense_Mutation_p.R1393H|GPR98_uc003kjv.2_Missense_Mutation_p.R1287H	p.R3687H	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	53	11156	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3687			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.11060G>A	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.95|12.95	2.092138|2.092138	0.36952|0.36952	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.27720|.	1.65|.	5.52|5.52	1.66|1.66	0.24008|0.24008	.|.	0.152878|.	0.64402|.	N|.	0.000017|.	T|T	0.55097|0.55097	0.1899|0.1899	L|L	0.45051|0.45051	1.395|1.395	0.80722|0.80722	D|D	1|1	B;B|.	0.26483|.	0.15;0.101|.	B;B|.	0.18561|.	0.022;0.01|.	T|T	0.43653|0.43653	-0.9378|-0.9378	10|5	0.37606|.	T|.	0.19|.	.|.	11.2443|11.2443	0.48987|0.48987	0.2377:0.0:0.7623:0.0|0.2377:0.0:0.7623:0.0	.|.	3687;3687|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	H|I	3687|1253	ENSP00000384582:R3687H|.	ENSP00000296619:R3687H|.	R|V	+|+	2|1	0|0	GPR98|GPR98	90082209|90082209	0.096000|0.096000	0.21769|0.21769	0.050000|0.050000	0.19076|0.19076	0.779000|0.779000	0.44077|0.44077	0.982000|0.982000	0.29539|0.29539	0.028000|0.028000	0.15324|0.15324	-0.123000|-0.123000	0.14984|0.14984	CGT|GTA		0.343	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GPR98	84059	broad.mit.edu	37	5	90144497	90144497	+	Missense_Mutation	SNP	G	G	A	rs374682222		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:90144497G>A	ENST00000405460.2	+	79	17159	c.17063G>A	c.(17062-17064)cGa>cAa	p.R5688Q	GPR98_ENST00000425867.2_Missense_Mutation_p.R1349Q	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5688					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTTGCCAGCCGAACTCTTTTC	0.323																																						uc003kju.2																			0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(17062-17064)CGA>CAA		G protein-coupled receptor 98 precursor		G	GLN/ARG	0,3616		0,0,1808	59.0	53.0	55.0		17063	5.1	1.0	5		55	1,8139		0,1,4069	no	missense	GPR98	NM_032119.3	43	0,1,5877	AA,AG,GG		0.0123,0.0,0.0085	probably-damaging	5688/6307	90144497	1,11755	1808	4070	5878	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90144497G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.17063G>A	5.37:g.90144497G>A	ENSP00000384582:p.Arg5688Gln					GPR98_uc003kjt.2_Missense_Mutation_p.R3394Q|GPR98_uc003kjw.2_Missense_Mutation_p.R1349Q	p.R5688Q	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	79	17159	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5688			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.17063G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793268	0.90453	0.0	1.23E-4	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.33438	1.41;1.48	5.95	5.09	0.68999	.	0.057543	0.64402	D	0.000001	T	0.52224	0.1721	M	0.66939	2.045	0.53005	D	0.999969	D;B;D	0.89917	1.0;0.4;1.0	P;B;D	0.67900	0.901;0.022;0.954	T	0.52540	-0.8562	9	.	.	.	.	15.2664	0.73666	0.067:0.0:0.933:0.0	.	1349;5688;1349	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	Q	5688;5688;1349	ENSP00000384582:R5688Q;ENSP00000392618:R1349Q	.	R	+	2	0	GPR98	90180253	1.000000	0.71417	0.997000	0.53966	0.931000	0.56810	3.790000	0.55461	1.524000	0.49035	0.655000	0.94253	CGA		0.323	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GPR98	84059	broad.mit.edu	37	5	90159635	90159635	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:90159635A>T	ENST00000405460.2	+	83	17913	c.17817A>T	c.(17815-17817)aaA>aaT	p.K5939N	GPR98_ENST00000425867.2_Missense_Mutation_p.K1600N	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5939					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGCAGCTAAACTTCTGACTC	0.423																																						uc003kju.2																			0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(17815-17817)AAA>AAT		G protein-coupled receptor 98 precursor							205.0	190.0	195.0					5																	90159635		1932	4132	6064	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90159635A>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.17817A>T	5.37:g.90159635A>T	ENSP00000384582:p.Lys5939Asn					GPR98_uc003kjt.2_Missense_Mutation_p.K3645N|GPR98_uc003kjw.2_Missense_Mutation_p.K1600N	p.K5939N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	83	17913	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5939			Cytoplasmic (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.17817A>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.002389	0.93227	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.44482	0.92;0.92	6.05	-6.97	0.01616	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.57621	0.2066	M	0.77313	2.365	0.58432	D	0.999998	D;D;D	0.76494	0.973;0.999;0.967	P;D;P	0.75020	0.901;0.985;0.84	T	0.68674	-0.5346	9	.	.	.	.	16.6581	0.85234	0.4941:0.0:0.5059:0.0	.	1600;5939;1600	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	N	5939;5939;1600	ENSP00000384582:K5939N;ENSP00000392618:K1600N	.	K	+	3	2	GPR98	90195391	1.000000	0.71417	0.863000	0.33907	0.998000	0.95712	0.876000	0.28092	-1.199000	0.02666	0.528000	0.53228	AAA		0.423	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
EPB41L4A	64097	broad.mit.edu	37	5	111540130	111540130	+	Missense_Mutation	SNP	G	G	A	rs562929678		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:111540130G>A	ENST00000261486.5	-	15	1594	c.1318C>T	c.(1318-1320)Cgt>Tgt	p.R440C	CTC-459M5.2_ENST00000506875.1_RNA|EPB41L4A_ENST00000507810.1_5'UTR|CTC-459M5.2_ENST00000505825.1_RNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	440						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TTTCGGCGACGCGTGTAAGGG	0.488																																						uc003kpv.1																			0				ovary(1)	1						c.(1318-1320)CGT>TGT		erythrocyte protein band 4.1-like 4							185.0	186.0	186.0					5																	111540130		1965	4150	6115	SO:0001583	missense	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111540130G>A	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.1318C>T	5.37:g.111540130G>A	ENSP00000261486:p.Arg440Cys					EPB41L4A_uc003kpp.1_Missense_Mutation_p.R67C	p.R440C	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	15	1592	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	440					A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	c.1318C>T	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445010	0.83993	.	.	ENSG00000129595	ENST00000261486	D	0.85088	-1.94	5.89	5.89	0.94794	.	0.062088	0.64402	D	0.000003	D	0.91825	0.7413	M	0.71581	2.175	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.79108	0.926;0.992	D	0.91919	0.5546	10	0.66056	D	0.02	.	17.1785	0.86848	0.0:0.0:1.0:0.0	.	440;67	Q9HCS5;Q8N8X1	E41LA_HUMAN;.	C	440	ENSP00000261486:R440C	ENSP00000261486:R440C	R	-	1	0	EPB41L4A	111568029	0.994000	0.37717	0.873000	0.34254	0.732000	0.41865	4.472000	0.60189	2.793000	0.96121	0.655000	0.94253	CGT		0.488	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1		
ATG12	9140	broad.mit.edu	37	5	115177086	115177087	+	Splice_Site	INS	-	-	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:115177086_115177087insT	ENST00000509910.1	-	1	468_469		c.e1+1		ATG12_ENST00000500945.2_Splice_Site|ATG12_ENST00000274459.4_Splice_Site|ATG12_ENST00000509598.1_5'Flank|AP3S1_ENST00000316788.7_5'Flank			O94817	ATG12_HUMAN	autophagy related 12						autophagic vacuole assembly (GO:0000045)|C-terminal protein lipidation (GO:0006501)|cellular response to nitrogen starvation (GO:0006995)|innate immune response (GO:0045087)|mitochondrion degradation (GO:0000422)|negative regulation of type I interferon production (GO:0032480)|nucleophagy (GO:0044804)	Atg12-Atg5-Atg16 complex (GO:0034274)|pre-autophagosomal structure membrane (GO:0034045)	Atg8 ligase activity (GO:0019776)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		AATTCAGTTACTTTTTTTCTTG	0.55																																						uc003krh.2																			0					0						c.e1+1		APG12 autophagy 12-like																																				SO:0001630	splice_region_variant	9140				autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding	g.chr5:115177086_115177087insT	AB017507	CCDS4122.1, CCDS4122.2, CCDS64222.1	5q21-q22	2014-02-12	2012-06-06	2005-09-11	ENSG00000145782	ENSG00000145782			588	protein-coding gene	gene with protein product	"""APG12 autophagy 12-like"""	609608	"""Apg12 (autophagy 12, S. cerevisiae)-like"", ""APG12 autophagy 12-like (S. cerevisiae)"", ""ATG12 autophagy related 12 homolog (S. cerevisiae)"""	APG12L		9852036	Standard	NM_004707		Approved	APG12	uc003krh.3	O94817	OTTHUMG00000128889	ENST00000509910.1:c.163+1->A	5.37:g.115177093_115177093dupT						AP3S1_uc003krl.2_5'Flank|AP3S1_uc003krk.2_5'Flank|AP3S1_uc003krm.2_5'Flank|ATG12_uc003kri.2_Splice_Site_p.I102_splice|ATG12_uc003krj.2_RNA	p.I102_splice	NM_004707	NP_004698	O94817	ATG12_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)	1	413	-		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)						Q6PJV2	Splice_Site	INS	ENST00000509910.1	37	c.304_splice	CCDS4122.2																																																																																				0.550	ATG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250851.3	NM_004707	Intron
PRR16	51334	broad.mit.edu	37	5	120022105	120022105	+	Missense_Mutation	SNP	C	C	T	rs137912065		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:120022105C>T	ENST00000407149.2	+	2	825	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	PRR16_ENST00000505123.1_Missense_Mutation_p.R136W|PRR16_ENST00000446965.1_Missense_Mutation_p.R136W|PRR16_ENST00000379551.2_Missense_Mutation_p.R183W			Q569H4	LARGN_HUMAN	proline rich 16	206	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AGAACGAGTTCGGTTTAATGA	0.473													C|||	0	0.0	0.0	0.0	5008	,	,		18866	0.0		0.0	False		,,,				2504	0.0					uc003ksq.2																			0				pancreas(2)|ovary(1)	3						c.(616-618)CGG>TGG		proline rich 16		C	TRP/ARG	0,4406		0,0,2203	70.0	71.0	71.0		547	2.3	0.7	5	dbSNP_134	71	7,8593	5.7+/-21.5	0,7,4293	yes	missense	PRR16	NM_016644.1	101	0,7,6496	TT,TC,CC		0.0814,0.0,0.0538	probably-damaging	183/282	120022105	7,12999	2203	4300	6503	SO:0001583	missense	51334							g.chr5:120022105C>T	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.616C>T	5.37:g.120022105C>T	ENSP00000385118:p.Arg206Trp					PRR16_uc003ksp.2_Missense_Mutation_p.R183W|PRR16_uc003ksr.2_Missense_Mutation_p.R136W	p.R206W	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	2	779	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	206			Pro-rich.		D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	37	c.616C>T		.	.	.	.	.	.	.	.	.	.	C	18.44	3.623465	0.66901	0.0	8.14E-4	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000509923;ENST00000505123;ENST00000446965	T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65	5.34	2.35	0.29111	.	0.000000	0.85682	D	0.000000	T	0.81240	0.4781	M	0.69823	2.125	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80618	-0.1302	9	.	.	.	-0.0429	13.121	0.59327	0.416:0.584:0.0:0.0	.	206;183	Q569H4;Q569H4-3	PRR16_HUMAN;.	W	206;183;136;136;136	ENSP00000385118:R206W;ENSP00000368869:R183W;ENSP00000421256:R136W;ENSP00000423446:R136W;ENSP00000405491:R136W	.	R	+	1	2	PRR16	120050004	0.991000	0.36638	0.661000	0.29709	0.994000	0.84299	2.950000	0.49081	0.609000	0.30018	0.650000	0.86243	CGG		0.473	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644	
CSNK1G3	1456	broad.mit.edu	37	5	122893189	122893189	+	Splice_Site	SNP	G	G	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:122893189G>T	ENST00000361991.2	+	3	250	c.220G>T	c.(220-222)Gag>Tag	p.E74*	CSNK1G3_ENST00000512718.3_5'UTR|CSNK1G3_ENST00000510842.2_Splice_Site_p.E74*|CSNK1G3_ENST00000521364.1_Splice_Site_p.E74*|CSNK1G3_ENST00000395412.1_Splice_Site_p.E74*|CSNK1G3_ENST00000345990.4_Splice_Site_p.E74*|CSNK1G3_ENST00000360683.2_Splice_Site_p.E74*|CSNK1G3_ENST00000395411.1_Splice_Site_p.E74*|CSNK1G3_ENST00000511130.2_Intron			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	74	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TTTCAATTAGGAGCCCATGAA	0.303																																					Pancreas(187;2868 2964 4353 6297)	uc003ktm.2																			0					0						c.(220-222)GAG>TAG		casein kinase 1, gamma 3 isoform 1							51.0	55.0	54.0					5																	122893189		2203	4296	6499	SO:0001630	splice_region_variant	1456				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr5:122893189G>T	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.220-1G>T	5.37:g.122893189G>T						CSNK1G3_uc003ktl.2_Nonsense_Mutation_p.E74*|CSNK1G3_uc003ktn.2_Nonsense_Mutation_p.E74*|CSNK1G3_uc003kto.2_Nonsense_Mutation_p.E74*|CSNK1G3_uc011cwr.1_5'UTR|CSNK1G3_uc011cws.1_Intron|CSNK1G3_uc010jda.2_Nonsense_Mutation_p.E74*	p.E74*	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)	4	939	+		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	74			Protein kinase.		A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Nonsense_Mutation	SNP	ENST00000361991.2	37	c.220G>T	CCDS4135.1	.	.	.	.	.	.	.	.	.	.	G	37	6.010177	0.97200	.	.	ENSG00000151292	ENST00000395412;ENST00000395411;ENST00000345990;ENST00000521364;ENST00000510842;ENST00000361991;ENST00000360683	.	.	.	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5899	0.91206	0.0:0.0:1.0:0.0	.	.	.	.	X	74	.	.	E	+	1	0	CSNK1G3	122921088	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.005000	0.88553	2.865000	0.98341	0.655000	0.94253	GAG		0.303	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384	Nonsense_Mutation
TRPC7	57113	broad.mit.edu	37	5	135693041	135693041	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:135693041C>T	ENST00000513104.1	-	2	317	c.35G>A	c.(34-36)cGc>cAc	p.R12H	TRPC7_ENST00000426057.2_Missense_Mutation_p.R12H|TRPC7_ENST00000355180.3_Missense_Mutation_p.R12H	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	12					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTGTGCCGGCGCTGCATGTT	0.572																																						uc003lbn.1																			0					0						c.(31-33)CGC>CAC		transient receptor potential cation channel,							33.0	37.0	36.0					5																	135693041		2091	4226	6317	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135693041C>T	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.35G>A	5.37:g.135693041C>T	ENSP00000426070:p.Arg12His					TRPC7_uc010jef.1_Missense_Mutation_p.R3H|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.R3H|TRPC7_uc010jei.1_Missense_Mutation_p.R3H|TRPC7_uc010jej.1_5'UTR	p.R11H	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	35	-			12			Cytoplasmic (Potential).		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.32G>A	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045401	0.93685	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.80304	-1.21;-1.36;-1.36	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.87989	0.6317	L	0.54323	1.7	0.48511	D	0.999663	D;D;D;D	0.89917	0.999;0.998;1.0;1.0	D;P;D;D	0.73380	0.98;0.897;0.915;0.931	D	0.88435	0.3038	10	0.87932	D	0	-14.9366	19.3333	0.94303	0.0:1.0:0.0:0.0	.	12;12;12;12	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	H	12	ENSP00000347312:R12H;ENSP00000441628:R12H;ENSP00000426070:R12H	ENSP00000265193:R12H	R	-	2	0	TRPC7	135720940	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.793000	0.96121	0.655000	0.94253	CGC		0.572	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389	
NDFIP1	80762	broad.mit.edu	37	5	141511419	141511419	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:141511419A>G	ENST00000253814.4	+	2	580	c.110A>G	c.(109-111)gAt>gGt	p.D37G	NDFIP1_ENST00000509436.1_3'UTR	NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	37					cellular iron ion homeostasis (GO:0006879)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of protein transport (GO:0051224)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transporter activity (GO:0032410)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein ubiquitination (GO:0031398)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of lymphocyte differentiation (GO:0045619)|regulation of myeloid leukocyte differentiation (GO:0002761)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cell cortex (GO:0005938)|endosome (GO:0005768)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCAGGTGATGCTCCTCCA	0.408																																						uc003lmi.3																			0					0						c.(109-111)GAT>GGT		Nedd4 family interacting protein 1							130.0	138.0	135.0					5																	141511419		2203	4300	6503	SO:0001583	missense	80762				cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm	signal transducer activity	g.chr5:141511419A>G	BC004317	CCDS4273.1	5q31.3	2008-02-05			ENSG00000131507	ENSG00000131507			17592	protein-coding gene	gene with protein product		612050				11042109, 11748237	Standard	NM_030571		Approved	N4WBP5, MGC10924	uc003lmi.4	Q9BT67	OTTHUMG00000129659	ENST00000253814.4:c.110A>G	5.37:g.141511419A>G	ENSP00000253814:p.Asp37Gly					NDFIP1_uc003lmj.1_Missense_Mutation_p.D37G	p.D37G	NM_030571	NP_085048	Q9BT67	NFIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	326	+		all_hematologic(541;0.0999)	37			Cytoplasmic (Potential).		B2RDB8|D3DQF0|Q658T8|Q8N2E3|Q8N2F9	Missense_Mutation	SNP	ENST00000253814.4	37	c.110A>G	CCDS4273.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.841506	0.91197	.	.	ENSG00000131507	ENST00000253814;ENST00000313129	.	.	.	5.74	5.74	0.90152	.	0.044765	0.85682	D	0.000000	T	0.74122	0.3675	L	0.55990	1.75	0.80722	D	1	D;D	0.76494	0.999;0.962	D;P	0.68765	0.96;0.597	T	0.72629	-0.4235	9	0.36615	T	0.2	-26.0109	16.0448	0.80714	1.0:0.0:0.0:0.0	.	37;37	Q9BT67-2;Q9BT67	.;NFIP1_HUMAN	G	37	.	ENSP00000253814:D37G	D	+	2	0	NDFIP1	141491603	1.000000	0.71417	0.796000	0.32109	0.929000	0.56500	7.003000	0.76310	2.206000	0.71126	0.482000	0.46254	GAT		0.408	NDFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251859.2	NM_030571	
GABRG2	2566	broad.mit.edu	37	5	161530925	161530925	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:161530925A>T	ENST00000361925.4	+	6	882	c.662A>T	c.(661-663)cAa>cTa	p.Q221L	GABRG2_ENST00000393933.4_Missense_Mutation_p.Q126L|GABRG2_ENST00000356592.3_Missense_Mutation_p.Q221L|GABRG2_ENST00000414552.2_Missense_Mutation_p.Q261L			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	221					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	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)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|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)	ATTGTTTATCAATGGAAGCGA	0.388																																						uc003lyz.3																			0				ovary(4)|skin(1)	5						c.(661-663)CAA>CTA		gamma-aminobutyric acid A receptor, gamma 2							107.0	102.0	103.0					5																	161530925		2203	4300	6503	SO:0001583	missense	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161530925A>T		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.662A>T	5.37:g.161530925A>T	ENSP00000354651:p.Gln221Leu					GABRG2_uc010jjc.2_Missense_Mutation_p.Q261L|GABRG2_uc003lyy.3_Missense_Mutation_p.Q221L|GABRG2_uc011dej.1_Missense_Mutation_p.Q126L	p.Q221L	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	6	1020	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	221			Extracellular (Probable).		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.662A>T	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.259258	0.39995	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	T;T;T;T;T	0.79554	-1.28;-1.03;-1.28;-1.28;-1.28	5.56	5.56	0.83823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.101918	0.64402	D	0.000002	T	0.59676	0.2211	N	0.04787	-0.16	0.44388	D	0.99729	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.003;0.002	T	0.57136	-0.7863	10	0.11182	T	0.66	.	11.4594	0.50202	0.8653:0.0:0.0:0.1347	.	261;221;221	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	L	221;261;221;126;126	ENSP00000349000:Q221L;ENSP00000410732:Q261L;ENSP00000354651:Q221L;ENSP00000377510:Q126L;ENSP00000430182:Q126L	ENSP00000349000:Q221L	Q	+	2	0	GABRG2	161463503	0.998000	0.40836	0.991000	0.47740	0.997000	0.91878	3.322000	0.52007	2.113000	0.64589	0.533000	0.62120	CAA		0.388	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		
BNIP1	662	broad.mit.edu	37	5	172585746	172585746	+	Splice_Site	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:172585746G>A	ENST00000351486.5	+	4	300		c.e4-1		BNIP1_ENST00000231668.9_Splice_Site|BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000352523.6_Intron	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1						apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCCAATTCCAGCAATCAGGCC	0.483																																						uc003mcj.3																			0				ovary(1)	1						c.e4-1		BCL2/adenovirus E1B 19kD interacting protein 1							115.0	96.0	102.0					5																	172585746		2203	4300	6503	SO:0001630	splice_region_variant	662				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding	g.chr5:172585746G>A	AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"""BCL2/adenovirus E1B 19kD-interacting protein 1"""			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.270-1G>A	5.37:g.172585746G>A						BNIP1_uc003mci.3_Splice_Site_p.S133_splice|BNIP1_uc003mck.3_Intron|BNIP1_uc003mcl.3_Intron	p.S90_splice	NM_001205	NP_001196	Q12981	SEC20_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		4	374	+	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)						D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Splice_Site	SNP	ENST00000351486.5	37	c.270_splice	CCDS4384.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603107	0.28534	.	.	ENSG00000113734	ENST00000231668;ENST00000351486	.	.	.	5.55	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.387	0.83514	0.0:0.132:0.868:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BNIP1	172518352	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	9.476000	0.97823	1.309000	0.44985	-0.175000	0.13238	.		0.483	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979	Intron
CDHR2	54825	broad.mit.edu	37	5	176004494	176004494	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:176004494A>G	ENST00000510636.1	+	13	1563	c.1289A>G	c.(1288-1290)cAg>cGg	p.Q430R	CDHR2_ENST00000506348.1_Missense_Mutation_p.Q430R|CDHR2_ENST00000261944.5_Missense_Mutation_p.Q430R	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	430	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GCCTCCGTTCAGGTGCTGGTG	0.672																																						uc003mem.1																			0				ovary(2)	2						c.(1288-1290)CAG>CGG		protocadherin LKC precursor							35.0	39.0	38.0					5																	176004494		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176004494A>G	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1289A>G	5.37:g.176004494A>G	ENSP00000424565:p.Gln430Arg					CDHR2_uc003men.1_Missense_Mutation_p.Q430R	p.Q430R	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN			13	1355	+			430			Extracellular (Potential).|Cadherin 4.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.1289A>G	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.439356	0.43326	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.56275	0.47;0.47;0.47	4.54	4.54	0.55810	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.52468	0.1736	M	0.69248	2.105	0.50632	D	0.99988	P	0.50272	0.933	B	0.42386	0.386	T	0.60929	-0.7165	9	0.62326	D	0.03	-21.5753	12.8936	0.58087	1.0:0.0:0.0:0.0	.	430	Q9BYE9	CDHR2_HUMAN	R	430	ENSP00000424565:Q430R;ENSP00000261944:Q430R;ENSP00000421078:Q430R	ENSP00000261944:Q430R	Q	+	2	0	CDHR2	175937100	1.000000	0.71417	0.995000	0.50966	0.044000	0.14063	5.380000	0.66202	2.041000	0.60428	0.368000	0.22195	CAG		0.672	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675	
DSP	1832	broad.mit.edu	37	6	7576615	7576615	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr6:7576615C>T	ENST00000379802.3	+	19	3060	c.2719C>T	c.(2719-2721)Cgc>Tgc	p.R907C	DSP_ENST00000418664.2_Missense_Mutation_p.R907C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	907	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGATGCTAAACGCCGCCAGGA	0.423																																						uc003mxp.1																			0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(2719-2721)CGC>TGC		desmoplakin isoform I							98.0	102.0	100.0					6																	7576615		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7576615C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2719C>T	6.37:g.7576615C>T	ENSP00000369129:p.Arg907Cys					DSP_uc003mxq.1_Missense_Mutation_p.R907C	p.R907C	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	19	2998	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	907			Globular 1.|Spectrin 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.2719C>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770351	0.90108	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.36340	1.26;1.96	6.02	6.02	0.97574	.	0.000000	0.64402	D	0.000002	T	0.37073	0.0990	L	0.34521	1.04	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	P;P	0.54706	0.543;0.759	T	0.09907	-1.0653	10	0.62326	D	0.03	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	954;907	Q4LE79;P15924	.;DESP_HUMAN	C	907;907;712	ENSP00000369129:R907C;ENSP00000396591:R907C	ENSP00000369129:R907C	R	+	1	0	DSP	7521614	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	5.346000	0.65992	2.865000	0.98341	0.655000	0.94253	CGC		0.423	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
TAP2	6891	broad.mit.edu	37	6	32798068	32798068	+	Silent	SNP	A	A	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr6:32798068A>G	ENST00000452392.2	-	9	1784	c.1611T>C	c.(1609-1611)taT>taC	p.Y537Y	TAP2_ENST00000374899.4_Silent_p.Y537Y|TAP2_ENST00000374897.2_Silent_p.Y537Y|TAP2_ENST00000485701.1_5'Flank			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	AGCAGTGTTCATACTGTGAGA	0.587																																						uc003occ.2																			0					0						c.(1609-1611)TAT>TAC		transporter 2, ATP-binding cassette, sub-family							142.0	134.0	137.0					6																	32798068		1511	2708	4219	SO:0001819	synonymous_variant	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32798068A>G	M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"""ATP binding cassette transporters / subfamily B"""	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.1611T>C	6.37:g.32798068A>G						TAP2_uc011dqf.1_Silent_p.Y537Y|TAP2_uc003ocb.1_Silent_p.Y537Y|TAP2_uc003ocd.2_Silent_p.Y537Y	p.Y537Y	NM_018833	NP_061313	Q03519	TAP2_HUMAN			8	1642	-			537			ABC transporter.|Cytoplasmic (Potential).		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Silent	SNP	ENST00000452392.2	37	c.1611T>C																																																																																					0.587	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	NM_000544	
TREML2	79865	broad.mit.edu	37	6	41166078	41166078	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr6:41166078G>A	ENST00000483722.1	-	2	330	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	49	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCTCCACGCGGTTTTTGTAG	0.547																																						uc010jxm.1																			0				ovary(1)|central_nervous_system(1)	2						c.(145-147)CGC>TGC		triggering receptor expressed on myeloid							162.0	172.0	168.0					6																	41166078		2203	4300	6503	SO:0001583	missense	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41166078G>A	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.145C>T	6.37:g.41166078G>A	ENSP00000418767:p.Arg49Cys						p.R49C	NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN			2	324	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		49			Ig-like V-type.|Extracellular (Potential).		Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	c.145C>T	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	9.788	1.177231	0.21787	.	.	ENSG00000112195	ENST00000483722	T	0.66815	-0.23	4.75	1.71	0.24356	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.508980	0.04411	N	0.366043	T	0.61763	0.2373	L	0.61218	1.895	0.09310	N	1	D	0.89917	1.0	P	0.60609	0.877	T	0.36648	-0.9739	10	0.38643	T	0.18	-1.4366	5.2161	0.15344	0.1909:0.0:0.6468:0.1623	.	49	Q5T2D2	TRML2_HUMAN	C	49	ENSP00000418767:R49C	ENSP00000418767:R49C	R	-	1	0	TREML2	41274056	0.002000	0.14202	0.001000	0.08648	0.028000	0.11728	0.836000	0.27545	0.505000	0.28104	0.563000	0.77884	CGC		0.547	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807	
ABCC10	89845	broad.mit.edu	37	6	43417751	43417751	+	Silent	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr6:43417751C>T	ENST00000372530.4	+	22	4616	c.4401C>T	c.(4399-4401)cgC>cgT	p.R1467R	ABCC10_ENST00000244533.3_Silent_p.R1439R	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1467	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CCACCCTGCGCAACCAGCCCC	0.642																																						uc003ouy.1																			0				ovary(6)|central_nervous_system(1)	7						c.(4399-4401)CGC>CGT		ATP-binding cassette, sub-family C, member 10							67.0	69.0	68.0					6																	43417751		2203	4300	6503	SO:0001819	synonymous_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43417751C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.4401C>T	6.37:g.43417751C>T						ABCC10_uc003ouz.1_Silent_p.R1439R|ABCC10_uc010jyo.1_Silent_p.R573R	p.R1467R	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		22	4616	+	all_lung(25;0.00536)		1467			ABC transporter 2.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	c.4401C>T	CCDS56430.1																																																																																				0.642	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450	
ZDHHC4	55146	broad.mit.edu	37	7	6628405	6628405	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr7:6628405G>A	ENST00000396706.2	+	8	1342	c.899G>A	c.(898-900)cGt>cAt	p.R300H	C7orf26_ENST00000359073.5_5'Flank|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.R300H|C7orf26_ENST00000344417.5_5'Flank|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.R300H|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.R300H|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.R300H|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.R300H			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	300						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.R300H(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TGGTGCCAGCGTTGTCCCCTT	0.577																																						uc003sqi.2																			2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|prostate(1)	breast(1)|pancreas(1)	2						c.(898-900)CGT>CAT		zinc finger, DHHC-type containing 4							122.0	109.0	113.0					7																	6628405		2203	4300	6503	SO:0001583	missense	55146					integral to membrane	acyltransferase activity|zinc ion binding	g.chr7:6628405G>A	AF201931	CCDS5352.1	7p22.1	2011-01-11			ENSG00000136247	ENSG00000136247		"""Zinc fingers, DHHC-type"""	18471	protein-coding gene	gene with protein product							Standard	NM_018106		Approved	FLJ10479, ZNF374	uc003sqj.3	Q9NPG8	OTTHUMG00000023579	ENST00000396706.2:c.899G>A	7.37:g.6628405G>A	ENSP00000379934:p.Arg300His					ZDHHC4_uc003sql.2_Missense_Mutation_p.R300H|ZDHHC4_uc003sqh.2_Missense_Mutation_p.R300H|ZDHHC4_uc003sqj.2_Missense_Mutation_p.R300H|ZDHHC4_uc003sqk.2_Missense_Mutation_p.R300H|ZDHHC4_uc003sqm.2_Missense_Mutation_p.R300H|uc011jwy.1_5'Flank|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank|C7orf26_uc003sqq.1_5'Flank	p.R300H	NM_001134388	NP_001127860	Q9NPG8	ZDHC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)	9	1257	+		Ovarian(82;0.232)	300					A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Missense_Mutation	SNP	ENST00000396706.2	37	c.899G>A	CCDS5352.1	.	.	.	.	.	.	.	.	.	.	G	6.659	0.490085	0.12702	.	.	ENSG00000136247	ENST00000405731;ENST00000396713;ENST00000396707;ENST00000335965;ENST00000396709;ENST00000396706	T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35	4.53	-8.02	0.01118	.	0.684599	0.14827	N	0.296085	T	0.07234	0.0183	N	0.02158	-0.66	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30357	-0.9981	10	0.02654	T	1	-20.1553	3.7761	0.08660	0.3325:0.1185:0.4324:0.1166	.	300	Q9NPG8	ZDHC4_HUMAN	H	300	ENSP00000385027:R300H;ENSP00000379941:R300H;ENSP00000379935:R300H;ENSP00000337475:R300H;ENSP00000379937:R300H;ENSP00000379934:R300H	ENSP00000337475:R300H	R	+	2	0	ZDHHC4	6594930	0.000000	0.05858	0.000000	0.03702	0.226000	0.24999	-0.511000	0.06321	-1.175000	0.02751	-1.099000	0.02127	CGT		0.577	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3	NM_018106	
CALCR	799	broad.mit.edu	37	7	93108737	93108737	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr7:93108737C>T	ENST00000394441.1	-	3	449	c.134G>A	c.(133-135)cGa>cAa	p.R45Q	CALCR_ENST00000359558.2_Missense_Mutation_p.R63Q|CALCR_ENST00000360249.4_Missense_Mutation_p.R45Q|CALCR_ENST00000426151.1_Missense_Mutation_p.R45Q|CALCR_ENST00000421592.1_Missense_Mutation_p.R45Q	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	63					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	CATCTTCTTTCGTCCTACGAC	0.403																																						uc003umv.1																			0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(187-189)CGA>CAA		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						246.0	228.0	234.0					7																	93108737		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93108737C>T	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.134G>A	7.37:g.93108737C>T	ENSP00000377959:p.Arg45Gln					CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.R45Q|CALCR_uc003umw.2_Missense_Mutation_p.R45Q	p.R63Q	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		4	449	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		45			Extracellular (Potential).		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.188G>A	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.176800	0.38413	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.21	2.38	0.29361	.	.	.	.	.	T	0.40498	0.1119	L	0.56769	1.78	0.09310	N	0.999999	P;B	0.35982	0.531;0.396	B;B	0.30179	0.112;0.042	T	0.22173	-1.0224	9	0.30854	T	0.27	.	4.4219	0.11484	0.0:0.5602:0.1636:0.2763	.	63;45	F5H605;A4D1G6	.;.	Q	63;45;45;45;45;45	ENSP00000352561:R63Q;ENSP00000353385:R45Q;ENSP00000399552:R45Q;ENSP00000377959:R45Q;ENSP00000389295:R45Q	ENSP00000352561:R63Q	R	-	2	0	CALCR	92946673	0.009000	0.17119	0.001000	0.08648	0.040000	0.13550	1.047000	0.30367	0.426000	0.26116	0.650000	0.86243	CGA		0.403	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742	
RBM28	55131	broad.mit.edu	37	7	127979698	127979698	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr7:127979698T>C	ENST00000223073.2	-	2	380	c.266A>G	c.(265-267)aAg>aGg	p.K89R	RBM28_ENST00000415472.2_Intron	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	89					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						ATTTTTCCCCTTTTCCTTTGT	0.443																																						uc003vmp.2																			0				ovary(2)	2						c.(265-267)AAG>AGG		RNA binding motif protein 28							176.0	176.0	176.0					7																	127979698		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127979698T>C	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.266A>G	7.37:g.127979698T>C	ENSP00000223073:p.Lys89Arg					RBM28_uc011koj.1_Intron|RBM28_uc011kok.1_Missense_Mutation_p.K36R	p.K89R	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN			2	381	-			89					A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.266A>G	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	T	12.86	2.064083	0.36373	.	.	ENSG00000106344	ENST00000223073;ENST00000478061;ENST00000459726	T;T;T	0.09350	2.99;3.42;3.42	5.73	4.56	0.56223	Nucleotide-binding, alpha-beta plait (1);	0.592553	0.19280	N	0.118171	T	0.06962	0.0177	N	0.24115	0.695	0.80722	D	1	B	0.33694	0.421	B	0.25987	0.065	T	0.40627	-0.9553	10	0.25106	T	0.35	-15.273	10.9514	0.47332	0.0:0.0:0.1635:0.8365	.	89	Q9NW13	RBM28_HUMAN	R	89;89;123	ENSP00000223073:K89R;ENSP00000418071:K89R;ENSP00000420503:K123R	ENSP00000223073:K89R	K	-	2	0	RBM28	127766934	0.438000	0.25602	0.977000	0.42913	0.909000	0.53808	0.640000	0.24705	0.982000	0.38575	0.528000	0.53228	AAG		0.443	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077	
INTS10	55174	broad.mit.edu	37	8	19677962	19677962	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr8:19677962C>T	ENST00000397977.3	+	4	772	c.374C>T	c.(373-375)aCg>aTg	p.T125M	INTS10_ENST00000521758.1_Intron	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	125					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TGCTTCAACACGTTAGAACGA	0.403																																						uc003wzj.2																			0				ovary(1)	1						c.(373-375)ACG>ATG		integrator complex subunit 10							139.0	132.0	134.0					8																	19677962		1910	4126	6036	SO:0001583	missense	55174				snRNA processing	integrator complex	protein binding	g.chr8:19677962C>T	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.374C>T	8.37:g.19677962C>T	ENSP00000381064:p.Thr125Met						p.T125M	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	4	505	+			125					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	ENST00000397977.3	37	c.374C>T	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	C	31	5.093404	0.94149	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.77705	0.4170	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78038	-0.2360	9	0.72032	D	0.01	-22.4927	18.7657	0.91871	0.0:1.0:0.0:0.0	.	125	Q9NVR2	INT10_HUMAN	M	125	.	ENSP00000381064:T125M	T	+	2	0	INTS10	19722242	1.000000	0.71417	0.966000	0.40874	0.991000	0.79684	7.316000	0.79007	2.776000	0.95493	0.655000	0.94253	ACG		0.403	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142	
DCAF4L2	138009	broad.mit.edu	37	8	88886278	88886278	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr8:88886278C>T	ENST00000319675.3	-	0	18					NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2											breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTTACAAGCACGACTTGGCAC	0.577																																						uc003ydz.2																			0				ovary(1)	1						c.(-80--76)TCGTG>TCATG		WD repeat domain 21C																																						138009							g.chr8:88886278C>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.-79G>A	8.37:g.88886278C>T								NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	19	-									Translation_Start_Site	SNP	ENST00000319675.3	37	c.-78G>A	CCDS6245.1																																																																																				0.577	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418	
SLC25A32	81034	broad.mit.edu	37	8	104417070	104417070	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr8:104417070A>T	ENST00000297578.4	-	3	491	c.325T>A	c.(325-327)Tat>Aat	p.Y109N	SLC25A32_ENST00000543107.1_Intron|SLC25A32_ENST00000523701.1_5'Flank	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	109					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TCTGTTTTATATGACTTGATG	0.353																																						uc003yll.2																			0				ovary(1)	1						c.(325-327)TAT>AAT		solute carrier family 25, member 32	Folic Acid(DB00158)						134.0	108.0	117.0					8																	104417070		2203	4300	6503	SO:0001583	missense	81034				folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity	g.chr8:104417070A>T	AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"""Solute carriers"""	29683	protein-coding gene	gene with protein product		610815	"""solute carrier family 25, member 32"""			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790	ENST00000297578.4:c.325T>A	8.37:g.104417070A>T	ENSP00000297578:p.Tyr109Asn					SLC25A32_uc011lhr.1_Intron	p.Y109N	NM_030780	NP_110407	Q9H2D1	MFTC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		3	628	-			109			Solcar 1.		Q96JZ6|Q96SU7	Missense_Mutation	SNP	ENST00000297578.4	37	c.325T>A	CCDS6300.1	.	.	.	.	.	.	.	.	.	.	A	15.66	2.899231	0.52227	.	.	ENSG00000164933	ENST00000297578;ENST00000424899	T	0.79033	-1.23	6.06	4.91	0.64330	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.69405	0.3107	L	0.39397	1.21	0.80722	D	1	B	0.25609	0.13	B	0.25405	0.06	T	0.64411	-0.6414	10	0.37606	T	0.19	-3.6645	12.0991	0.53772	0.9334:0.0:0.0666:0.0	.	109	Q9H2D1	MFTC_HUMAN	N	109;93	ENSP00000297578:Y109N	ENSP00000297578:Y109N	Y	-	1	0	SLC25A32	104486246	1.000000	0.71417	0.986000	0.45419	0.987000	0.75469	8.070000	0.89493	1.121000	0.41925	0.533000	0.62120	TAT		0.353	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780	
SPATA31C2	645961	broad.mit.edu	37	9	90745328	90745328	+	IGR	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr9:90745328G>A								U6 (132078 upstream) : U3 (243855 downstream)																							CACAACAGTGGCAGAAACTTG	0.537																																						uc011lti.1																			0											c.(2623-2625)GCC>GTC		SubName: Full=cDNA FLJ59639;							41.0	39.0	40.0					9																	90745328		692	1591	2283	SO:0001628	intergenic_variant	0							g.chr9:90745328G>A																													9.37:g.90745328G>A						uc004apx.1_5'Flank	p.A875V							4	2653	-									Missense_Mutation	SNP		37	c.2624C>T																																																																																				0	0.537								
KAL1	3730	broad.mit.edu	37	X	8555862	8555862	+	Silent	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:8555862G>A	ENST00000262648.3	-	5	848	c.699C>T	c.(697-699)gaC>gaT	p.D233D		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	233	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						AGTGAGTGGCGTCATCTTCGC	0.423																																						uc004csf.2																			0				ovary(3)|pancreas(1)	4						c.(697-699)GAC>GAT		Kallmann syndrome 1 protein precursor							79.0	60.0	66.0					X																	8555862		2203	4300	6503	SO:0001819	synonymous_variant	3730				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8555862G>A		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.699C>T	X.37:g.8555862G>A							p.D233D	NM_000216	NP_000207	P23352	KALM_HUMAN			5	849	-			233			Fibronectin type-III 1.		B2RPF8	Silent	SNP	ENST00000262648.3	37	c.699C>T	CCDS14130.1																																																																																				0.423	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216	
BEND2	139105	broad.mit.edu	37	X	18238990	18238990	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:18238990G>A	ENST00000380033.4	-	0	13				BEND2_ENST00000380030.3_De_novo_Start_OutOfFrame	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2											NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GCGTACACTCGTTGTCCGAGG	0.647																																						uc004cyj.3																			0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(-121--117)AACGA>AATGA		BEN domain containing 2																																						139105							g.chrX:18238990G>A	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.-120C>T	X.37:g.18238990G>A						BEND2_uc010nfb.2_Translation_Start_Site		NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN			1	35	-								E9PFY2|Q4V9S2|Q5JXE5	Translation_Start_Site	SNP	ENST00000380033.4	37	c.-119C>T	CCDS14184.1																																																																																				0.647	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346	
ARHGEF9	23229	broad.mit.edu	37	X	62875413	62875413	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:62875413T>C	ENST00000253401.6	-	8	2061	c.1261A>G	c.(1261-1263)Aga>Gga	p.R421G	ARHGEF9_ENST00000374878.1_Missense_Mutation_p.R419G|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.R319G|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.R148G|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.R400G|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.R368G	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	421	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|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)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTCTCTTCTCTGAAAGCCCTG	0.413																																						uc004dvl.2																			0				ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8						c.(1261-1263)AGA>GGA		Cdc42 guanine exchange factor 9							205.0	176.0	186.0					X																	62875413		2203	4300	6503	SO:0001583	missense	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62875413T>C	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.1261A>G	X.37:g.62875413T>C	ENSP00000253401:p.Arg421Gly					ARHGEF9_uc004dvj.1_Missense_Mutation_p.R310G|ARHGEF9_uc004dvk.1_Missense_Mutation_p.R239G|ARHGEF9_uc011mos.1_Missense_Mutation_p.R400G|ARHGEF9_uc004dvm.1_Missense_Mutation_p.R400G|ARHGEF9_uc011mot.1_Missense_Mutation_p.R368G|ARHGEF9_uc004dvn.2_Missense_Mutation_p.R428G	p.R421G	NM_015185	NP_056000	O43307	ARHG9_HUMAN			8	2100	-			421			PH.		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	c.1261A>G	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.984158	0.35036	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000433323;ENST00000374872	T;T;T;T;D;T	0.88586	-1.01;-1.01;-1.01;-1.01;-2.4;-1.01	5.54	4.34	0.51931	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.111649	0.64402	D	0.000007	T	0.79650	0.4482	N	0.19112	0.55	0.41541	D	0.988515	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.10450	0.003;0.005;0.003;0.003	T	0.70128	-0.4957	10	0.28530	T	0.3	.	9.8589	0.41103	0.0:0.0:0.3268:0.6731	.	368;419;421;421	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	G	421;419;368;319;148;400	ENSP00000253401:R421G;ENSP00000364012:R419G;ENSP00000399994:R368G;ENSP00000364004:R319G;ENSP00000404478:R148G;ENSP00000364006:R400G	ENSP00000253401:R421G	R	-	1	2	ARHGEF9	62792138	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.493000	0.45320	0.713000	0.32060	0.356000	0.21956	AGA		0.413	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1		
LAS1L	81887	broad.mit.edu	37	X	64749656	64749656	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:64749656A>T	ENST00000374811.3	-	5	657	c.617T>A	c.(616-618)aTa>aAa	p.I206K	LAS1L_ENST00000374804.5_Missense_Mutation_p.I164K|LAS1L_ENST00000312391.8_Missense_Mutation_p.I206K|LAS1L_ENST00000374807.5_Missense_Mutation_p.I206K	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	206					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CTCTTCCTCTATCCCTTCCCT	0.488																																						uc004dwa.1																			0				ovary(3)|large_intestine(1)	4						c.(616-618)ATA>AAA		LAS1-like							208.0	178.0	188.0					X																	64749656		2203	4300	6503	SO:0001583	missense	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64749656A>T	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.617T>A	X.37:g.64749656A>T	ENSP00000363944:p.Ile206Lys					LAS1L_uc004dwc.1_Missense_Mutation_p.I206K|LAS1L_uc004dwd.1_Missense_Mutation_p.I164K	p.I206K	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN			5	689	-			206					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	ENST00000374811.3	37	c.617T>A	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	A	0.915	-0.717652	0.03182	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804;ENST00000312391	.	.	.	5.76	1.45	0.22620	.	0.811706	0.10969	N	0.614087	T	0.26629	0.0651	N	0.22421	0.69	0.09310	N	1	B;B;B	0.23990	0.065;0.095;0.039	B;B;B	0.21917	0.025;0.037;0.011	T	0.21655	-1.0239	9	0.29301	T	0.29	.	7.7363	0.28817	0.4425:0.0:0.5575:0.0	.	164;206;206	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2	.;.;LAS1L_HUMAN	K	206;206;164;206	.	ENSP00000308649:I206K	I	-	2	0	LAS1L	64666381	0.018000	0.18449	0.066000	0.19879	0.051000	0.14879	-0.115000	0.10741	0.197000	0.20387	-0.287000	0.09952	ATA		0.488	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206	
MED12	9968	broad.mit.edu	37	X	70357763	70357763	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:70357763C>A	ENST00000374080.3	+	41	6046	c.6014C>A	c.(6013-6015)aCc>aAc	p.T2005N	MED12_ENST00000333646.6_Missense_Mutation_p.T2008N|MED12_ENST00000374102.1_Missense_Mutation_p.T2004N			Q93074	MED12_HUMAN	mediator complex subunit 12	2005	Gln-rich.|Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CAGGCCCCCACCTATGGACAT	0.547			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.2				Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(6013-6015)ACC>AAC		mediator complex subunit 12							56.0	56.0	56.0					X																	70357763		2073	4167	6240	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70357763C>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6014C>A	X.37:g.70357763C>A	ENSP00000363193:p.Thr2005Asn					MED12_uc011mpq.1_Missense_Mutation_p.T1980N|MED12_uc004dyz.2_Missense_Mutation_p.T2004N|MED12_uc004dza.2_Missense_Mutation_p.T1855N|MED12_uc010nla.2_Missense_Mutation_p.T634N	p.T2005N	NM_005120	NP_005111	Q93074	MED12_HUMAN			41	6213	+	Renal(35;0.156)		2005			Gln-rich.|Interaction with CTNNB1 and GLI3.		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.6014C>A	CCDS43970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	12.60|12.60	1.985947|1.985947	0.35036|0.35036	.|.	.|.	ENSG00000184634|ENSG00000184634	ENST00000444034|ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	.|D;D;D;T;T	.|0.84298	.|-1.83;-1.83;-1.83;2.19;2.19	5.0|5.0	4.08|4.08	0.47627|0.47627	.|Mediator complex, subunit Med12, catenin-binding (1);	.|0.409612	.|0.26680	.|N	.|0.023060	T|T	0.69788|0.69788	0.3150|0.3150	N|N	0.08118|0.08118	0|0	0.30706|0.30706	N|N	0.749805|0.749805	.|B;B;B;B	.|0.23128	.|0.065;0.08;0.034;0.042	.|B;B;B;B	.|0.28709	.|0.022;0.093;0.027;0.046	T|T	0.63563|0.63563	-0.6609|-0.6609	5|10	.|0.16420	.|T	.|0.52	-6.2223|-6.2223	11.5472|11.5472	0.50700|0.50700	0.0:0.5131:0.4869:0.0|0.0:0.5131:0.4869:0.0	.|.	.|1980;1855;2004;2005	.|F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.|.;.;.;MED12_HUMAN	T|N	201|2008;1980;2004;2005;1955;753	.|ENSP00000333125:T2008N;ENSP00000363215:T2004N;ENSP00000363193:T2005N;ENSP00000414203:T1955N;ENSP00000408388:T753N	.|ENSP00000333125:T2008N	P|T	+|+	1|2	0|0	MED12|MED12	70274488|70274488	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.968000|0.968000	0.65278|0.65278	2.381000|2.381000	0.44336|0.44336	2.250000|2.250000	0.74265|0.74265	0.529000|0.529000	0.55759|0.55759	CCT|ACC		0.547	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120	
TBX22	50945	broad.mit.edu	37	X	79282236	79282236	+	Silent	SNP	C	C	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:79282236C>A	ENST00000373294.5	+	5	695	c.667C>A	c.(667-669)Cga>Aga	p.R223R	TBX22_ENST00000373296.3_Silent_p.R223R|TBX22_ENST00000442340.1_Silent_p.R103R|TBX22_ENST00000373291.1_Silent_p.R103R	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	223					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|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)	p.R223*(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTACAAACCCCGAGTGCACGT	0.453																																						uc010nmg.1																			1	Substitution - Nonsense(1)		large_intestine(1)	lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15	GRCh37	CD013205	TBX22	D		c.(667-669)CGA>AGA		T-box 22 isoform 1							158.0	128.0	138.0					X																	79282236		2203	4300	6503	SO:0001819	synonymous_variant	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79282236C>A	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.667C>A	X.37:g.79282236C>A						TBX22_uc004edi.1_Silent_p.R103R|TBX22_uc004edj.1_Silent_p.R223R	p.R223R	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			6	801	+			223			T-box.		Q5JZ06|Q96LC0|Q9HBF1	Silent	SNP	ENST00000373294.5	37	c.667C>A	CCDS14445.1																																																																																				0.453	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954	
KLHL4	56062	broad.mit.edu	37	X	86890583	86890583	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:86890583G>A	ENST00000373119.4	+	9	1878	c.1733G>A	c.(1732-1734)cGt>cAt	p.R578H	KLHL4_ENST00000373114.4_Missense_Mutation_p.R578H	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	578						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ATTGGTGGACGTGATGGAAGT	0.393																																						uc004efb.2																			0				ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(1732-1734)CGT>CAT		kelch-like 4 isoform 1							109.0	92.0	98.0					X																	86890583		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86890583G>A	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1733G>A	X.37:g.86890583G>A	ENSP00000362211:p.Arg578His					KLHL4_uc004efa.2_Missense_Mutation_p.R578H	p.R578H	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			9	1915	+			578			Kelch 4.		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1733G>A	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978893	0.74360	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.79033	-1.23;-1.23	4.44	3.58	0.41010	Galactose oxidase, beta-propeller (1);	0.127317	0.53938	D	0.000058	T	0.75845	0.3905	N	0.16790	0.44	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.982	T	0.71394	-0.4606	10	0.23891	T	0.37	.	10.8468	0.46746	0.0949:0.0:0.9051:0.0	.	578;578	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	H	578	ENSP00000362211:R578H;ENSP00000362206:R578H	ENSP00000362206:R578H	R	+	2	0	KLHL4	86777239	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	8.896000	0.92521	0.988000	0.38734	0.513000	0.50165	CGT		0.393	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1		
PCDH11X	27328	broad.mit.edu	37	X	91133806	91133806	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:91133806C>T	ENST00000373094.1	+	2	3412	c.2567C>T	c.(2566-2568)aCc>aTc	p.T856I	PCDH11X_ENST00000504220.2_Missense_Mutation_p.T856I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T856I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T856I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T856I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T856I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.T856I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.T856I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T856I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	856					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GAATGGGCTACCCCAAACCCA	0.403																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			0				large_intestine(2)	2						c.(2566-2568)ACC>ATC		protocadherin 11 X-linked isoform c							65.0	60.0	62.0					X																	91133806		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133806C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2567C>T	X.37:g.91133806C>T	ENSP00000362186:p.Thr856Ile					PCDH11X_uc004efl.1_Missense_Mutation_p.T856I|PCDH11X_uc004efo.1_Missense_Mutation_p.T856I|PCDH11X_uc010nmv.1_Missense_Mutation_p.T856I|PCDH11X_uc004efm.1_Missense_Mutation_p.T856I|PCDH11X_uc004efn.1_Missense_Mutation_p.T856I|PCDH11X_uc004efh.1_Missense_Mutation_p.T856I|PCDH11X_uc004efj.1_Missense_Mutation_p.T856I	p.T856I	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	3412	+			856			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2567C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358552	0.24598	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.16	4.3	0.51218	Protocadherin (1);	0.121499	0.56097	N	0.000027	T	0.50411	0.1614	M	0.71581	2.175	0.34995	D	0.75542	D;D;D;D;D;D;D;D	0.67145	0.987;0.996;0.996;0.996;0.996;0.996;0.987;0.987	P;D;D;D;D;D;P;P	0.68621	0.886;0.931;0.931;0.931;0.931;0.959;0.886;0.886	T	0.61088	-0.7133	10	0.33141	T	0.24	.	11.9575	0.52988	0.0:0.914:0.0:0.086	.	856;856;856;856;856;856;856;856	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	I	856	ENSP00000378746:T856I;ENSP00000362186:T856I;ENSP00000362189:T856I;ENSP00000355040:T856I;ENSP00000362180:T856I;ENSP00000423762:T856I;ENSP00000355105:T856I;ENSP00000384758:T856I;ENSP00000298274:T856I	ENSP00000298274:T856I	T	+	2	0	PCDH11X	91020462	1.000000	0.71417	0.998000	0.56505	0.193000	0.23685	5.519000	0.67074	0.951000	0.37770	-0.192000	0.12808	ACC		0.403	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
TAF7L	54457	broad.mit.edu	37	X	100541563	100541563	+	Splice_Site	SNP	G	G	A	rs149116664		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:100541563G>A	ENST00000372907.3	-	3	414	c.403C>T	c.(403-405)Cct>Tct	p.P135S	TAF7L_ENST00000356784.1_Splice_Site_p.P49S|TAF7L_ENST00000372905.2_Splice_Site_p.P49S|Y_RNA_ENST00000410271.1_RNA|TAF7L_ENST00000324762.6_Splice_Site_p.P49S	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	135					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AACTACTTACGCAATAAGTCA	0.333													G|||	1	0.000264901	0.0008	0.0	3775	,	,		16459	0.0		0.0	False		,,,				2504	0.0				Ovarian(104;431 1530 3210 15406 18594)	uc004ehb.2																			0				breast(1)	1						c.(403-405)CCT>TCT		TATA box binding protein-associated factor, RNA		G	SER/PRO,SER/PRO	4,3831		0,4,1628,571	102.0	77.0	85.0		145,403	-3.6	0.0	X	dbSNP_134	85	0,6727		0,0,2428,1871	yes	missense-near-splice,missense-near-splice	TAF7L	NM_001168474.1,NM_024885.3	74,74	0,4,4056,2442	AA,AG,GG,G		0.0,0.1043,0.0379	benign,benign	49/377,135/463	100541563	4,10558	2203	4299	6502	SO:0001630	splice_region_variant	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100541563G>A	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.403+1C>T	X.37:g.100541563G>A						TAF7L_uc004eha.2_Missense_Mutation_p.P49S|TAF7L_uc004ehc.1_Missense_Mutation_p.P49S	p.P135S	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN			3	415	-			135					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	c.403C>T	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	G	1.671	-0.508935	0.04231	0.001043	0.0	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.21191	3.56;2.02;2.02;3.56	5.7	-3.63	0.04529	TAFII55 protein, conserved region (1);	0.717962	0.12085	N	0.500917	T	0.10121	0.0248	N	0.21448	0.665	0.24286	N	0.995182	B;B	0.28512	0.214;0.093	B;B	0.17433	0.018;0.005	T	0.23297	-1.0192	9	.	.	.	-1.325	7.8872	0.29656	0.4451:0.2205:0.3344:0.0	.	135;49	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	S	135;49;49;49	ENSP00000361998:P135S;ENSP00000361996:P49S;ENSP00000320283:P49S;ENSP00000349235:P49S	.	P	-	1	0	TAF7L	100428219	0.300000	0.24435	0.001000	0.08648	0.020000	0.10135	-0.248000	0.08854	-1.626000	0.01552	-0.322000	0.08575	CCT		0.333	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2		Missense_Mutation
ACSL4	2182	broad.mit.edu	37	X	108924259	108924259	+	Nonsense_Mutation	SNP	G	G	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:108924259G>T	ENST00000469796.2	-	6	1142	c.746C>A	c.(745-747)tCa>tAa	p.S249*	ACSL4_ENST00000348502.6_Nonsense_Mutation_p.S208*|ACSL4_ENST00000340800.2_Nonsense_Mutation_p.S249*			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	249					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	CTCTTCTACTGATTGCATGCT	0.333																																					Pancreas(188;358 2127 38547 41466 45492)	uc004eoi.2																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(745-747)TCA>TAA		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)						137.0	122.0	127.0					X																	108924259		2203	4300	6503	SO:0001587	stop_gained	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108924259G>T	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.746C>A	X.37:g.108924259G>T	ENSP00000419171:p.Ser249*					ACSL4_uc004eoj.2_Nonsense_Mutation_p.S208*|ACSL4_uc004eok.2_Nonsense_Mutation_p.S208*|ACSL4_uc010npp.1_Nonsense_Mutation_p.S249*	p.S249*	NM_022977	NP_075266	O60488	ACSL4_HUMAN			7	1251	-			249			Cytoplasmic (Potential).		D3DUY2|O60848|O60849|Q5JWV8	Nonsense_Mutation	SNP	ENST00000469796.2	37	c.746C>A	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	G	41	8.767187	0.98945	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	.	.	.	5.95	5.95	0.96441	.	0.430804	0.25238	N	0.032115	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-11.2175	19.2627	0.93974	0.0:0.0:1.0:0.0	.	.	.	.	X	208;249;249	.	ENSP00000339787:S249X	S	-	2	0	ACSL4	108810915	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.245000	0.65405	2.501000	0.84356	0.513000	0.50165	TCA		0.333	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458	
UPF3B	65109	broad.mit.edu	37	X	118975081	118975084	+	Frame_Shift_Del	DEL	TCTG	TCTG	-	rs142862074	byFrequency	TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:118975081_118975084delTCTG	ENST00000276201.2	-	7	831_834	c.762_765delCAGA	c.(760-765)gacagafs	p.DR254fs	UPF3B_ENST00000478840.1_5'UTR|UPF3B_ENST00000345865.2_Frame_Shift_Del_p.DR254fs	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	254	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R255K(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TTTCTGGAATTCTGTCTATCTTCT	0.328																																						uc004erz.1																			1	Substitution - Missense(1)	p.R255K(1)	ovary(1)	ovary(2)|kidney(1)	3						c.(760-765)GACAGAfs		UPF3 regulator of nonsense transcripts homolog B																																				SO:0001589	frameshift_variant	65109				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:118975081_118975084delTCTG	AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.762_765delCAGA	X.37:g.118975081_118975084delTCTG	ENSP00000276201:p.Asp254fs					UPF3B_uc004esa.1_Frame_Shift_Del_p.D254fs	p.D254fs	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN			7	839_842	-			254_255			Sufficient for association with EJC core.|Necessary for interaction with UPF2.		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Frame_Shift_Del	DEL	ENST00000276201.2	37	c.762_765delCAGA	CCDS14588.1																																																																																				0.328	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1		
DCAF12L1	139170	broad.mit.edu	37	X	125685564	125685564	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:125685564G>A	ENST00000371126.1	-	1	1270	c.1028C>T	c.(1027-1029)cCc>cTc	p.P343L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	343										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGAACACAGGGGCCGGATGTT	0.602																																						uc004eul.2																			0				skin(3)|ovary(1)	4						c.(1027-1029)CCC>CTC		DDB1 and CUL4 associated factor 12-like 1							42.0	42.0	42.0					X																	125685564		2203	4300	6503	SO:0001583	missense	139170							g.chrX:125685564G>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1028C>T	X.37:g.125685564G>A	ENSP00000360167:p.Pro343Leu						p.P343L	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	1279	-			343					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.1028C>T	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	G	6.988	0.552398	0.13374	.	.	ENSG00000198889	ENST00000371126	T	0.63096	-0.02	3.64	1.82	0.25136	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.35677	N	0.003046	T	0.46718	0.1407	L	0.46157	1.445	0.19775	N	0.999955	B	0.21071	0.051	B	0.16722	0.016	T	0.22417	-1.0217	10	0.19147	T	0.46	.	5.5905	0.17299	0.1144:0.0:0.6896:0.196	.	343	Q5VU92	DC121_HUMAN	L	343	ENSP00000360167:P343L	ENSP00000360167:P343L	P	-	2	0	DCAF12L1	125513245	1.000000	0.71417	0.000000	0.03702	0.294000	0.27393	6.136000	0.71703	0.367000	0.24454	0.429000	0.28392	CCC		0.602	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470	
STK26	51765	broad.mit.edu	37	X	131207025	131207025	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:131207025C>T	ENST00000354719.6	+	10	1274	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	MST4_ENST00000496850.1_Missense_Mutation_p.A315V|MST4_ENST00000481105.1_Missense_Mutation_p.A399V|MST4_ENST00000394334.2_Missense_Mutation_p.A377V|MST4_ENST00000394335.2_Missense_Mutation_p.A300V																endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AGGAATCAGGCGATTGAAGAA	0.358																																						uc004ewk.1																			0				ovary(3)|lung(3)|stomach(2)|upper_aerodigestive_tract(1)	9						c.(1129-1131)GCG>GTG		serine/threonine protein kinase MST4 isoform 1							66.0	71.0	69.0					X																	131207025		2198	4295	6493	SO:0001583	missense	51765				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:131207025C>T																												ENST00000354719.6:c.1058C>T	X.37:g.131207025C>T	ENSP00000346755:p.Ala353Val					MST4_uc004ewl.1_Missense_Mutation_p.A300V|MST4_uc011mux.1_Missense_Mutation_p.A399V|MST4_uc010nrj.1_Missense_Mutation_p.A353V|MST4_uc004ewm.1_Missense_Mutation_p.A315V	p.A377V	NM_016542	NP_057626	Q9P289	MST4_HUMAN			11	1431	+	Acute lymphoblastic leukemia(192;0.000127)		377						Missense_Mutation	SNP	ENST00000354719.6	37	c.1130C>T		.	.	.	.	.	.	.	.	.	.	c	19.59	3.855480	0.71719	.	.	ENSG00000134602	ENST00000394334;ENST00000481105;ENST00000354719;ENST00000394335;ENST00000496850	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000005	T	0.29491	0.0735	N	0.21617	0.685	0.58432	D	0.999998	B;B;P;B;B	0.34892	0.051;0.008;0.474;0.042;0.013	B;B;B;B;B	0.24394	0.017;0.008;0.053;0.018;0.008	T	0.05053	-1.0909	10	0.27785	T	0.31	.	19.0056	0.92849	0.0:1.0:0.0:0.0	.	399;353;315;300;377	B4E0Y9;Q8NBY1;Q9P289-3;Q9P289-2;Q9P289	.;.;.;.;MST4_HUMAN	V	377;399;353;300;315	ENSP00000377867:A377V;ENSP00000418753:A399V;ENSP00000346755:A353V;ENSP00000377868:A300V;ENSP00000419702:A315V	ENSP00000346755:A353V	A	+	2	0	AL109749.1	131034706	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	5.507000	0.66999	2.437000	0.82529	0.519000	0.50382	GCG		0.358	MST4-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000058308.2		
