#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NOC2L	26155	broad.mit.edu	37	1	892349	892349	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:892349G>T	ENST00000327044.6	-	4	460	c.411C>A	c.(409-411)ccC>ccA	p.P137P	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	137					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCAGCCCTCTGGGGACTCTGT	0.582																																						ENST00000327044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16						c.(409-411)ccC>ccA		nucleolar complex associated 2 homolog (S. cerevisiae)							144.0	147.0	146.0					1																	892349		2203	4300	6503	SO:0001819	synonymous_variant	26155					nucleolus	protein binding	g.chr1:892349G>T	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.411C>A	1.37:g.892349G>T			Somatic				NOC2L_ENST00000487214.1_5'UTR	p.P137P	NM_015658.3	NP_056473	WXS	Illumina GAIIx	Phase_I	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	4	460	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	137					Q5SVA3|Q9BTN6	Silent	SNP	ENST00000327044.6	37	c.411C>A	CCDS3.1																																																																																				0.582	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		7	164	7	164	---	---	---	---
TMEM201	199953	broad.mit.edu	37	1	9662326	9662326	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:9662326C>A	ENST00000340381.6	+	6	1165	c.1156C>A	c.(1156-1158)Cga>Aga	p.R386R	TMEM201_ENST00000340305.5_Silent_p.R386R|TMEM201_ENST00000377376.4_Silent_p.R386R	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	386					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		GTTCCGGCCCCGAAGGTCAGA	0.642																																						ENST00000340305.5																			0				lung(3)|upper_aerodigestive_tract(1)	4						c.(1156-1158)Cga>Aga		transmembrane protein 201							23.0	22.0	22.0					1																	9662326		2200	4300	6500	SO:0001819	synonymous_variant	199953					integral to membrane|nuclear inner membrane		g.chr1:9662326C>A		CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.1156C>A	1.37:g.9662326C>A			Somatic				TMEM201_ENST00000340381.6_Silent_p.R386R|TMEM201_ENST00000377376.4_Silent_p.R386R	p.R386R	NM_001010866.3	NP_001010866.1	WXS	Illumina GAIIx	Phase_I	Q5SNT2	TM201_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)	6	1165	+	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	386					B9EH90|Q5SNT3	Silent	SNP	ENST00000340381.6	37	c.1156C>A	CCDS44055.2	.	.	.	.	.	.	.	.	.	.	c	10.48	1.361575	0.24684	.	.	ENSG00000188807	ENST00000416541	.	.	.	4.75	2.73	0.32206	.	.	.	.	.	T	0.61677	0.2366	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59182	-0.7502	5	0.36615	T	0.2	-3.9904	11.1266	0.48322	0.3328:0.6672:0.0:0.0	.	.	.	.	Q	295	.	ENSP00000393626:P295Q	P	+	2	0	TMEM201	9584913	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.072000	0.57563	0.965000	0.38133	0.457000	0.33378	CCG		0.642	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866		4	20	4	20	---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22157724	22157724	+	Missense_Mutation	SNP	C	C	A	rs144525987	byFrequency	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:22157724C>A	ENST00000374695.3	-	84	11625	c.11546G>T	c.(11545-11547)cGg>cTg	p.R3849L	HSPG2_ENST00000486901.1_5'Flank	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3849	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGGCCGGTCCCGACAGGTGGG	0.682																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(11545-11547)cGg>cTg		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						87.0	95.0	92.0					1																	22157724		2203	4299	6502	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22157724C>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.11546G>T	1.37:g.22157724C>A	ENSP00000363827:p.Arg3849Leu		Somatic					p.R3849L	NM_005529.5	NP_005520.4	WXS	Illumina GAIIx	Phase_I	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	84	11625	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3849			EGF-like 1.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.11546G>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	c	15.15	2.747901	0.49257	.	.	ENSG00000142798	ENST00000374695	D	0.91843	-2.92	5.46	1.51	0.23008	Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.551628	0.13760	N	0.364673	T	0.76681	0.4021	N	0.02345	-0.59	0.29216	N	0.874233	B;B	0.32283	0.292;0.362	B;B	0.29785	0.061;0.107	T	0.70741	-0.4789	10	0.30854	T	0.27	.	7.1399	0.25550	0.0:0.5021:0.0:0.4979	.	1789;3849	Q59EG0;P98160	.;PGBM_HUMAN	L	3849	ENSP00000363827:R3849L	ENSP00000363827:R3849L	R	-	2	0	HSPG2	22030311	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	1.079000	0.30766	0.433000	0.26313	0.457000	0.33378	CGG		0.682	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		5	125	5	125	---	---	---	---
MYOM3	127294	broad.mit.edu	37	1	24388587	24388587	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:24388587C>A	ENST00000374434.3	-	33	3945	c.3783G>T	c.(3781-3783)ctG>ctT	p.L1261L	MYOM3_ENST00000338909.5_Silent_p.L154L|MYOM3_ENST00000330966.7_Silent_p.L1264L|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1261						M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CACCACTCTCCAGACGTTTGT	0.517																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(3790-3792)ctG>ctT		myomesin 3							154.0	153.0	153.0					1																	24388587		1949	4133	6082	SO:0001819	synonymous_variant	127294							g.chr1:24388587C>A	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.3783G>T	1.37:g.24388587C>A			Somatic				MYOM3_ENST00000338909.5_Silent_p.L154L|MYOM3_ENST00000374434.3_Silent_p.L1261L|RP11-293P20.2_ENST00000439239.2_RNA	p.L1264L			WXS	Illumina GAIIx	Phase_I	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	33	3954	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1261					A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	ENST00000374434.3	37	c.3792G>T	CCDS41281.1																																																																																				0.517	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		6	172	6	172	---	---	---	---
AHDC1	27245	broad.mit.edu	37	1	27878163	27878163	+	Missense_Mutation	SNP	G	G	T	rs201594464		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:27878163G>T	ENST00000247087.5	-	5	1060	c.464C>A	c.(463-465)cCg>cAg	p.P155Q	AHDC1_ENST00000374011.2_Missense_Mutation_p.P155Q			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	155	Pro-rich.						DNA binding (GO:0003677)	p.P155Q(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CGGTGCAGGCGGGCGGCTCAG	0.637																																						ENST00000374011.2																			2	Substitution - Missense(2)	p.P155Q(2)	lung(2)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(463-465)cCg>cAg		AT hook, DNA binding motif, containing 1							103.0	107.0	106.0					1																	27878163		2203	4300	6503	SO:0001583	missense	27245						DNA binding	g.chr1:27878163G>T	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.464C>A	1.37:g.27878163G>T	ENSP00000247087:p.Pro155Gln		Somatic				AHDC1_ENST00000247087.5_Missense_Mutation_p.P155Q	p.P155Q	NM_001029882.2	NP_001025053.1	WXS	Illumina GAIIx	Phase_I	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	1432	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	155			Pro-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.464C>A	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096574	0.56075	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.43294	0.95;0.95	4.35	3.36	0.38483	.	.	.	.	.	T	0.29190	0.0726	N	0.14661	0.345	0.30443	N	0.776005	D	0.53312	0.959	B	0.43274	0.414	T	0.24190	-1.0167	9	0.72032	D	0.01	-4.594	12.5026	0.55964	0.0:0.17:0.83:0.0	.	155	Q5TGY3	AHDC1_HUMAN	Q	155	ENSP00000247087:P155Q;ENSP00000363123:P155Q	ENSP00000247087:P155Q	P	-	2	0	AHDC1	27750750	0.986000	0.35501	0.913000	0.36048	0.626000	0.37791	2.006000	0.40874	1.961000	0.56991	0.305000	0.20034	CCG		0.637	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			5	162	5	162	---	---	---	---
THEMIS2	9473	broad.mit.edu	37	1	28203119	28203119	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:28203119G>T	ENST00000373921.3	+	2	119	c.115G>T	c.(115-117)Ggg>Tgg	p.G39W	THEMIS2_ENST00000328928.7_Missense_Mutation_p.G39W|THEMIS2_ENST00000373925.1_Missense_Mutation_p.G39W|THEMIS2_ENST00000373927.3_Missense_Mutation_p.G39W	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	39	CABIT 1.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGAGATCTCTGGGAATGAGTG	0.597																																						ENST00000373921.3																			0											c.(115-117)Ggg>Tgg		thymocyte selection associated family member 2							127.0	115.0	119.0					1																	28203119		2203	4300	6503	SO:0001583	missense	9473							g.chr1:28203119G>T	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.115G>T	1.37:g.28203119G>T	ENSP00000363031:p.Gly39Trp		Somatic				THEMIS2_ENST00000328928.7_Missense_Mutation_p.G39W|THEMIS2_ENST00000373927.3_Missense_Mutation_p.G39W|THEMIS2_ENST00000373925.1_Missense_Mutation_p.G39W	p.G39W	NM_001105556.1	NP_001099026.1	WXS	Illumina GAIIx	Phase_I					2	119	+								A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	ENST00000373921.3	37	c.115G>T	CCDS41290.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648251	0.47258	.	.	ENSG00000130775	ENST00000373925;ENST00000328928;ENST00000373927;ENST00000442118;ENST00000373921	T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.51432	0.1674	M	0.81802	2.56	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.54536	-0.8279	10	0.87932	D	0	-44.008	18.2613	0.90037	0.0:0.0:1.0:0.0	.	39;39;39;39;39	Q5TEJ8-5;Q5TEJ8-6;Q5TEJ8;Q5TEJ8-4;Q5TEJ8-2	.;.;THMS2_HUMAN;.;.	W	39	ENSP00000363035:G39W;ENSP00000329862:G39W;ENSP00000363037:G39W;ENSP00000413725:G39W;ENSP00000363031:G39W	ENSP00000329862:G39W	G	+	1	0	C1orf38	28075706	1.000000	0.71417	0.955000	0.39395	0.218000	0.24690	8.562000	0.90719	2.657000	0.90304	0.650000	0.86243	GGG		0.597	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848		8	135	8	135	---	---	---	---
DNAJC8	22826	broad.mit.edu	37	1	28530322	28530322	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:28530322C>A	ENST00000263697.4	-	8	601	c.575G>T	c.(574-576)aGg>aTg	p.R192M	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	192					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)				kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTTCTTCCCTTTGTCGTTT	0.413																																						ENST00000263697.4																			0				kidney(1)|large_intestine(3)|lung(2)	6						c.(574-576)aGg>aTg		DnaJ (Hsp40) homolog, subfamily C, member 8							128.0	112.0	117.0					1																	28530322		1846	4087	5933	SO:0001583	missense	22826				nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding	g.chr1:28530322C>A	AF083190	CCDS41292.1	1p35	2011-09-02			ENSG00000126698	ENSG00000126698		"""Heat shock proteins / DNAJ (HSP40)"""	15470	protein-coding gene	gene with protein product						11147971	Standard	NM_014280		Approved	SPF31	uc001bpn.3	O75937	OTTHUMG00000003538	ENST00000263697.4:c.575G>T	1.37:g.28530322C>A	ENSP00000263697:p.Arg192Met		Somatic				DNAJC8_ENST00000489277.1_5'UTR	p.R192M	NM_014280.2	NP_055095.2	WXS	Illumina GAIIx	Phase_I	O75937	DNJC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)	8	601	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	192					B4DUU4|D3DPM0|Q6IBA4|Q8N4Z5|Q9P051|Q9P067	Missense_Mutation	SNP	ENST00000263697.4	37	c.575G>T	CCDS41292.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394943	0.83011	.	.	ENSG00000126698	ENST00000263697	T	0.67171	-0.25	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.81987	0.4939	M	0.79123	2.44	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	D	0.84011	0.0348	10	0.56958	D	0.05	-15.5833	18.2919	0.90133	0.0:1.0:0.0:0.0	.	192	O75937	DNJC8_HUMAN	M	192	ENSP00000263697:R192M	ENSP00000263697:R192M	R	-	2	0	DNAJC8	28402909	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.944000	0.75940	2.388000	0.81334	0.650000	0.86243	AGG		0.413	DNAJC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009860.1	NM_014280		5	87	5	87	---	---	---	---
FABP3	2170	broad.mit.edu	37	1	31842339	31842339	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:31842339C>A	ENST00000373713.2	-	2	200	c.139G>T	c.(139-141)Ggg>Tgg	p.G47W	FABP3_ENST00000497275.1_5'UTR	NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN	fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	47					cholesterol homeostasis (GO:0042632)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid import (GO:0044539)|negative regulation of cell proliferation (GO:0008285)|phospholipid homeostasis (GO:0055091)|positive regulation of phospholipid biosynthetic process (GO:0071073)|regulation of fatty acid oxidation (GO:0046320)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasm (GO:0016528)	cytoskeletal protein binding (GO:0008092)|icosatetraenoic acid binding (GO:0050543)|long-chain fatty acid binding (GO:0036041)|long-chain fatty acid transporter activity (GO:0005324)|oleic acid binding (GO:0070538)			large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		AGAATGTCCCCATTCTTTTCG	0.488																																						ENST00000373713.2																			0				large_intestine(1)|lung(2)|ovary(2)	5						c.(139-141)Ggg>Tgg		fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)							406.0	346.0	367.0					1																	31842339		2203	4300	6503	SO:0001583	missense	2170				negative regulation of cell proliferation			g.chr1:31842339C>A	U57623	CCDS342.1	1p33-p32	2013-03-01	2003-09-10		ENSG00000121769	ENSG00000121769		"""Fatty acid binding protein family"""	3557	protein-coding gene	gene with protein product		134651	"""fatty acid binding protein 11"""	MDGI, FABP11		8661024	Standard	NM_004102		Approved	H-FABP, O-FABP	uc001bss.1	P05413	OTTHUMG00000003797	ENST00000373713.2:c.139G>T	1.37:g.31842339C>A	ENSP00000362817:p.Gly47Trp		Somatic				FABP3_ENST00000497275.1_5'UTR	p.G47W	NM_004102.3	NP_004093.1	WXS	Illumina GAIIx	Phase_I	P05413	FABPH_HUMAN		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)	2	200	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)	47					B2RAB6|Q5VV93|Q99957	Missense_Mutation	SNP	ENST00000373713.2	37	c.139G>T	CCDS342.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452293	0.84209	.	.	ENSG00000121769	ENST00000373713	T	0.61980	0.06	5.0	5.0	0.66597	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	D	0.85716	0.5761	H	0.95151	3.63	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	D	0.89711	0.3912	10	0.87932	D	0	.	18.4939	0.90856	0.0:1.0:0.0:0.0	.	47	P05413	FABPH_HUMAN	W	47	ENSP00000362817:G47W	ENSP00000362817:G47W	G	-	1	0	FABP3	31614926	1.000000	0.71417	0.946000	0.38457	0.875000	0.50365	7.562000	0.82300	2.770000	0.95276	0.650000	0.86243	GGG		0.488	FABP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010683.1	NM_004102		6	175	6	175	---	---	---	---
AGO1	26523	broad.mit.edu	37	1	36383945	36383945	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:36383945C>A	ENST00000373204.4	+	17	2399	c.2186C>A	c.(2185-2187)cCa>cAa	p.P729Q	AGO1_ENST00000373206.1_Missense_Mutation_p.P654Q	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	729	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GGTAACATCCCAGCTGGGACC	0.512																																						ENST00000373204.4																			0											c.(2185-2187)cCa>cAa		argonaute RISC catalytic component 1							312.0	289.0	297.0					1																	36383945		2203	4300	6503	SO:0001583	missense	26523							g.chr1:36383945C>A	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.2186C>A	1.37:g.36383945C>A	ENSP00000362300:p.Pro729Gln		Somatic				AGO1_ENST00000373206.1_Missense_Mutation_p.P654Q	p.P729Q	NM_012199.2	NP_036331.1	WXS	Illumina GAIIx	Phase_I					17	2399	+								Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	c.2186C>A	CCDS398.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592722	0.86953	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.29655	1.56;1.56	5.61	5.61	0.85477	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.62600	0.2441	M	0.90705	3.14	0.80722	D	1	D	0.62365	0.991	P	0.61201	0.885	T	0.67444	-0.5669	10	0.51188	T	0.08	-5.393	20.0016	0.97412	0.0:1.0:0.0:0.0	.	729	Q9UL18	AGO1_HUMAN	Q	654;729	ENSP00000362302:P654Q;ENSP00000362300:P729Q	ENSP00000362300:P729Q	P	+	2	0	EIF2C1	36156532	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.806000	0.86020	2.802000	0.96397	0.655000	0.94253	CCA		0.512	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			8	228	8	228	---	---	---	---
ZC3H12A	80149	broad.mit.edu	37	1	37948984	37948984	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:37948984C>A	ENST00000373087.6	+	6	1688	c.1572C>A	c.(1570-1572)ccC>ccA	p.P524P		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGCCCCCACCCACATCAGTCC	0.667																																						ENST00000373087.6																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1570-1572)ccC>ccA		zinc finger CCCH-type containing 12A							63.0	75.0	71.0					1																	37948984		2203	4300	6503	SO:0001819	synonymous_variant	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37948984C>A		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.1572C>A	1.37:g.37948984C>A			Somatic					p.P524P	NM_025079.2	NP_079355.2	WXS	Illumina GAIIx	Phase_I	Q5D1E8	ZC12A_HUMAN			6	1688	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	524			Pro-rich.			Silent	SNP	ENST00000373087.6	37	c.1572C>A	CCDS417.1																																																																																				0.667	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		6	118	6	118	---	---	---	---
PTCH2	8643	broad.mit.edu	37	1	45297648	45297648	+	Splice_Site	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:45297648C>A	ENST00000372192.3	-	4	654	c.524G>T	c.(523-525)cGg>cTg	p.R175L	PTCH2_ENST00000447098.2_Splice_Site_p.R175L	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	175				R -> W (in Ref. 1; AAC79847 and 4; AAQ88919/AAQ89375). {ECO:0000305}.	epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)	p.R175L(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GACACTTACCCGCTCAATCAT	0.507									Basal Cell Nevus syndrome																													ENST00000447098.2																			1	Substitution - Missense(1)	p.R175L(1)	lung(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(523-525)cGg>cTg		patched 2							110.0	116.0	114.0					1																	45297648		2203	4300	6503	SO:0001630	splice_region_variant	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45297648C>A	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.525+1G>T	1.37:g.45297648C>A			Somatic				PTCH2_ENST00000372192.3_Splice_Site_p.R175L	p.R175L	NM_001166292.1	NP_001159764.1	WXS	Illumina GAIIx	Phase_I	Q9Y6C5	PTC2_HUMAN			4	535	-	Acute lymphoblastic leukemia(166;0.155)		175	R -> W (in Ref. 1; AAC79847 and 4; AAQ88919/AAQ89375).				O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Splice_Site	SNP	ENST00000372192.3	37	c.524G>T	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567218	0.86439	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.92595	-3.06;-3.07	4.39	4.39	0.52855	.	0.000000	0.41712	D	0.000838	D	0.94052	0.8094	L	0.60455	1.87	0.58432	D	0.999998	D	0.61697	0.99	P	0.62298	0.9	D	0.93186	0.6579	10	0.35671	T	0.21	-19.5825	15.8855	0.79244	0.0:1.0:0.0:0.0	.	175	Q9Y6C5	PTC2_HUMAN	L	175	ENSP00000389703:R175L;ENSP00000361266:R175L	ENSP00000361266:R175L	R	-	2	0	PTCH2	45070235	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	4.277000	0.58939	2.271000	0.75665	0.462000	0.41574	CGG		0.507	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738	Missense_Mutation	6	171	6	171	---	---	---	---
HECTD3	79654	broad.mit.edu	37	1	45475081	45475081	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:45475081C>A	ENST00000372172.4	-	6	1020	c.949G>T	c.(949-951)Ggg>Tgg	p.G317W	UROD_ENST00000246337.4_5'Flank|HECTD3_ENST00000372168.3_5'Flank	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	317	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G317W(1)|p.G33W(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					AGGTTGTCCCCTTCACCCCCA	0.532																																						ENST00000372172.4																			2	Substitution - Missense(2)	p.G317W(1)|p.G33W(1)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28						c.(949-951)Ggg>Tgg		HECT domain containing E3 ubiquitin protein ligase 3							258.0	265.0	263.0					1																	45475081		2138	4241	6379	SO:0001583	missense	79654				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity	g.chr1:45475081C>A	BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.949G>T	1.37:g.45475081C>A	ENSP00000361245:p.Gly317Trp		Somatic					p.G317W	NM_024602.5	NP_078878.3	WXS	Illumina GAIIx	Phase_I	Q5T447	HECD3_HUMAN			6	1020	-	Acute lymphoblastic leukemia(166;0.155)		317			DOC.		B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	ENST00000372172.4	37	c.949G>T	CCDS41318.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257480	0.59321	.	.	ENSG00000126107	ENST00000372172	T	0.66995	-0.24	4.87	4.87	0.63330	Anaphase-promoting complex, subunit 10/DOC domain (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.74627	0.3741	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.74728	-0.3567	10	0.49607	T	0.09	.	11.8527	0.52419	0.0:0.9185:0.0:0.0815	.	317	Q5T447	HECD3_HUMAN	W	317	ENSP00000361245:G317W	ENSP00000361245:G317W	G	-	1	0	HECTD3	45247668	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.365000	0.59486	2.422000	0.82143	0.655000	0.94253	GGG		0.532	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1	NM_024602		14	283	14	283	---	---	---	---
MROH7	374977	broad.mit.edu	37	1	55144482	55144482	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:55144482C>A	ENST00000421030.2	+	11	2289	c.2004C>A	c.(2002-2004)ccC>ccA	p.P668P	MROH7_ENST00000454855.2_Silent_p.P186P|MROH7_ENST00000339553.5_Silent_p.P668P|MROH7_ENST00000545244.1_Silent_p.P236P|MROH7_ENST00000395690.2_Silent_p.P668P|MROH7-TTC4_ENST00000414150.2_Silent_p.P668P|MROH7_ENST00000409996.1_Silent_p.P236P	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	668						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TCCTGGGGCCCTACAACCCTG	0.577																																						ENST00000414150.2																			0											c.(2002-2004)ccC>ccA									87.0	95.0	93.0					1																	55144482		1971	4140	6111	SO:0001819	synonymous_variant	100527960							g.chr1:55144482C>A	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.2004C>A	1.37:g.55144482C>A			Somatic				MROH7_ENST00000395690.2_Silent_p.P668P|MROH7_ENST00000545244.1_Silent_p.P236P|MROH7_ENST00000454855.2_Silent_p.P186P|MROH7_ENST00000339553.5_Silent_p.P668P|MROH7_ENST00000409996.1_Silent_p.P236P|MROH7_ENST00000421030.2_Silent_p.P668P	p.P668P			WXS	Illumina GAIIx	Phase_I					11	2282	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	c.2004C>A	CCDS41342.2																																																																																				0.577	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		5	66	5	66	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145109576	145109576	+	RNA	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:145109576C>A	ENST00000453618.1	+	0	565							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											AGCTGCCTTCCCTAAGACGTT	0.428																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)							445.0	436.0	439.0					1																	145109576		2041	4195	6236			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109576C>A	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109576C>A			Somatic								WXS	Illumina GAIIx	Phase_I	O75396	SC22B_HUMAN			0	565	+								A8K1G0	RNA	SNP	ENST00000453618.1	37																																																																																						0.428	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		10	525	10	525	---	---	---	---
RP11-337C18.8	0	broad.mit.edu	37	1	146649722	146649722	+	RNA	SNP	G	G	T	rs587748559	byFrequency	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:146649722G>T	ENST00000607149.1	+	0	350				RP11-337C18.9_ENST00000606152.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000440377.2_RNA																							CGCTGTTCCCGGGCGTGGCGC	0.741																																						ENST00000607149.1																			0																																																			0							g.chr1:146649722G>T																													1.37:g.146649722G>T			Somatic				RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA				WXS	Illumina GAIIx	Phase_I					0	350	+									RNA	SNP	ENST00000607149.1	37																																																																																						0.741	RP11-337C18.8-004	KNOWN	not_organism_supported|basic	antisense	antisense	OTTHUMT00000471324.1			3	21	3	21	---	---	---	---
CHD1L	9557	broad.mit.edu	37	1	146765330	146765330	+	Silent	SNP	T	T	C			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:146765330T>C	ENST00000369258.4	+	21	2450	c.2430T>C	c.(2428-2430)aaT>aaC	p.N810N	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Silent_p.N606N|CHD1L_ENST00000361293.5_Silent_p.N529N|CHD1L_ENST00000431239.1_Silent_p.N716N	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	810	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					ATCGTTCCAATGTCCTGTCTG	0.463																																						ENST00000369258.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2428-2430)aaT>aaC		chromodomain helicase DNA binding protein 1-like							191.0	185.0	187.0					1																	146765330		2203	4300	6503	SO:0001819	synonymous_variant	9557				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr1:146765330T>C	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.2430T>C	1.37:g.146765330T>C			Somatic				CHD1L_ENST00000369259.3_Silent_p.N606N|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Silent_p.N529N|CHD1L_ENST00000431239.1_Silent_p.N716N	p.N810N	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	WXS	Illumina GAIIx	Phase_I	Q86WJ1	CHD1L_HUMAN			21	2450	+	all_hematologic(923;0.0487)		810			Macro.		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Silent	SNP	ENST00000369258.4	37	c.2430T>C	CCDS927.1																																																																																				0.463	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		26	151	26	151	---	---	---	---
SELENBP1	8991	broad.mit.edu	37	1	151339248	151339248	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:151339248G>T	ENST00000368868.5	-	6	705	c.614C>A	c.(613-615)gCa>gAa	p.A205E	SELENBP1_ENST00000435071.1_Missense_Mutation_p.A141E|SELENBP1_ENST00000447402.3_Missense_Mutation_p.A143E|SELENBP1_ENST00000426705.2_Missense_Mutation_p.A247E|SELENBP1_ENST00000473693.1_5'Flank	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	205					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)	p.A205E(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATTGGGAGCTGCCCACTCAGT	0.587																																						ENST00000426705.2																			1	Substitution - Missense(1)	p.A205E(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20						c.(739-741)gCa>gAa		selenium binding protein 1							217.0	180.0	192.0					1																	151339248		2203	4300	6503	SO:0001583	missense	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151339248G>T	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.614C>A	1.37:g.151339248G>T	ENSP00000357861:p.Ala205Glu		Somatic				SELENBP1_ENST00000447402.3_Missense_Mutation_p.A143E|SELENBP1_ENST00000368868.5_Missense_Mutation_p.A205E|SELENBP1_ENST00000435071.1_Missense_Mutation_p.A141E	p.A247E	NM_001258289.1	NP_001245218.1	WXS	Illumina GAIIx	Phase_I	Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		6	884	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		205					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Missense_Mutation	SNP	ENST00000368868.5	37	c.740C>A	CCDS995.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.540721|4.540721	0.85917|0.85917	.|.	.|.	ENSG00000143416|ENSG00000143416	ENST00000368868;ENST00000447402;ENST00000435071;ENST00000458566;ENST00000426705|ENST00000424475	.|.	.|.	.|.	5.22|5.22	4.28|4.28	0.50868|0.50868	.|.	0.052893|.	0.85682|.	D|.	0.000000|.	T|T	0.61035|0.61035	0.2315|0.2315	M|M	0.67700|0.67700	2.07|2.07	0.40172|0.40172	D|D	0.977188|0.977188	P;D;D;P;P;D;P|.	0.58970|.	0.946;0.984;0.984;0.953;0.741;0.973;0.853|.	P;D;D;P;P;P;P|.	0.63703|.	0.741;0.917;0.917;0.864;0.648;0.809;0.794|.	T|T	0.63028|0.63028	-0.6728|-0.6728	9|5	0.72032|.	D|.	0.01|.	-13.3816|-13.3816	13.5488|13.5488	0.61719|0.61719	0.0:0.423:0.577:0.0|0.0:0.423:0.577:0.0	.|.	143;247;165;189;58;141;205|.	B4E1F3;A6PVW9;A6PVW8;A6PVX1;B4DPI7;Q13228-2;Q13228|.	.;.;.;.;.;.;SBP1_HUMAN|.	E|K	205;143;141;189;247|166	.|.	ENSP00000357861:A205E|.	A|Q	-|-	2|1	0|0	SELENBP1|SELENBP1	149605872|149605872	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	3.707000|3.707000	0.54838|0.54838	1.272000|1.272000	0.44329|0.44329	0.561000|0.561000	0.74099|0.74099	GCA|CAG		0.587	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			6	194	6	194	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152329418	152329418	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:152329418A>T	ENST00000388718.5	-	3	916	c.844T>A	c.(844-846)Tat>Aat	p.Y282N	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	282	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATTGCTATAACCACATGCA	0.428																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(844-846)Tat>Aat		filaggrin family member 2							181.0	165.0	170.0					1																	152329418		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152329418A>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.844T>A	1.37:g.152329418A>T	ENSP00000373370:p.Tyr282Asn		Somatic				FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.Y282N	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	916	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		282			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.844T>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	A	6.762	0.509513	0.12883	.	.	ENSG00000143520	ENST00000388718	T	0.01133	5.29	5.9	1.81	0.25067	.	.	.	.	.	T	0.00300	0.0009	N	0.22421	0.69	0.09310	N	1	P	0.37101	0.582	B	0.28011	0.085	T	0.41142	-0.9525	9	0.27082	T	0.32	-0.3416	5.6986	0.17869	0.558:0.151:0.0:0.291	.	282	Q5D862	FILA2_HUMAN	N	282	ENSP00000373370:Y282N	ENSP00000373370:Y282N	Y	-	1	0	FLG2	150596042	0.001000	0.12720	0.001000	0.08648	0.117000	0.20001	1.002000	0.29796	1.036000	0.39998	0.528000	0.53228	TAT		0.428	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		33	157	33	157	---	---	---	---
HAX1	10456	broad.mit.edu	37	1	154247929	154247929	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:154247929C>A	ENST00000328703.7	+	6	937	c.724C>A	c.(724-726)Cga>Aga	p.R242R	HAX1_ENST00000483970.2_Silent_p.R250R|HAX1_ENST00000457918.2_Silent_p.R194R|HAX1_ENST00000532105.1_Silent_p.R114R	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	242	Involved in ATP2A2 binding.|Involved in GNA13 binding.|Involved in HCLS1 binding.|Involved in PKD2 binding.|Required for localization in sarcoplasmic reticulum. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)	p.R242R(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TACAGTAACCCGACACGAAGC	0.493									Kostmann syndrome																													ENST00000328703.7																			1	Substitution - coding silent(1)	p.R242R(1)	lung(1)	cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(724-726)Cga>Aga		HCLS1 associated protein X-1							141.0	148.0	146.0					1																	154247929		2203	4300	6503	SO:0001819	synonymous_variant	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154247929C>A	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.724C>A	1.37:g.154247929C>A			Somatic				HAX1_ENST00000532105.1_Silent_p.R114R|HAX1_ENST00000483970.2_Silent_p.R250R|HAX1_ENST00000457918.2_Silent_p.R194R	p.R242R	NM_006118.3	NP_006109.2	WXS	Illumina GAIIx	Phase_I	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		6	937	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		242			Involved in ATP2A2 binding.|Involved in GNA13 binding.|Involved in HCLS1 binding.|Involved in PKD2 binding.|Required for localization in sarcoplasmic reticulum (By similarity).		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Silent	SNP	ENST00000328703.7	37	c.724C>A	CCDS1064.1																																																																																				0.493	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		5	191	5	191	---	---	---	---
ATP8B2	57198	broad.mit.edu	37	1	154317895	154317895	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:154317895C>A	ENST00000368489.3	+	23	2667	c.2667C>A	c.(2665-2667)ctC>ctA	p.L889L		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	875					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|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)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGCAGCGCCTCCTGCTGGTGC	0.532											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(2665-2667)ctC>ctA		ATPase, aminophospholipid transporter, class I, type 8B, member 2							243.0	249.0	247.0					1																	154317895		2203	4300	6503	SO:0001819	synonymous_variant	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154317895C>A	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.2667C>A	1.37:g.154317895C>A			Somatic	OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1762		p.L889L	NM_020452.3	NP_065185.1	WXS	Illumina GAIIx	Phase_I	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		23	2667	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		875					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Silent	SNP	ENST00000368489.3	37	c.2667C>A	CCDS1066.1																																																																																				0.532	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		10	434	10	434	---	---	---	---
OR10K1	391109	broad.mit.edu	37	1	158435737	158435737	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:158435737C>A	ENST00000289451.2	+	1	466	c.386C>A	c.(385-387)cCa>cAa	p.P129Q		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					ATCTGTAACCCACTGCGCTAC	0.552																																						ENST00000289451.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27						c.(385-387)cCa>cAa		olfactory receptor, family 10, subfamily K, member 1							210.0	198.0	202.0					1																	158435737		2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158435737C>A	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.386C>A	1.37:g.158435737C>A	ENSP00000289451:p.Pro129Gln		Somatic					p.P129Q	NM_001004473.1	NP_001004473.1	WXS	Illumina GAIIx	Phase_I	Q8NGX5	O10K1_HUMAN			1	466	+	all_hematologic(112;0.0378)		129					Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.386C>A	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	c	15.43	2.830047	0.50845	.	.	ENSG00000173285	ENST00000289451	T	0.01902	4.57	4.5	4.5	0.54988	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000672	T	0.16428	0.0395	H	0.97491	4.015	0.41696	D	0.989374	D	0.89917	1.0	D	0.91635	0.999	T	0.27297	-1.0078	10	0.87932	D	0	.	16.1284	0.81410	0.0:1.0:0.0:0.0	.	129	Q8NGX5	O10K1_HUMAN	Q	129	ENSP00000289451:P129Q	ENSP00000289451:P129Q	P	+	2	0	OR10K1	156702361	1.000000	0.71417	0.927000	0.36925	0.093000	0.18481	7.098000	0.76974	2.311000	0.77944	0.557000	0.71058	CCA		0.552	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			7	193	7	193	---	---	---	---
ATP1A2	477	broad.mit.edu	37	1	160097494	160097494	+	Missense_Mutation	SNP	G	G	T	rs121918612		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:160097494G>T	ENST00000361216.3	+	8	990	c.901G>T	c.(901-903)Ggg>Tgg	p.G301W	ATP1A2_ENST00000392233.3_Missense_Mutation_p.G301W	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	301					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGTATTCCTGGGGGTCTCCTT	0.577																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	GRCh37	CM045040	ATP1A2	M	rs121918612	c.(901-903)Ggg>Tgg		ATPase, Na+/K+ transporting, alpha 2 polypeptide							143.0	134.0	137.0					1																	160097494		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160097494G>T	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.901G>T	1.37:g.160097494G>T	ENSP00000354490:p.Gly301Trp		Somatic				ATP1A2_ENST00000392233.3_Missense_Mutation_p.G301W	p.G301W	NM_000702.3	NP_000693.1	WXS	Illumina GAIIx	Phase_I	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		8	990	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		301					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.901G>T	CCDS1196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.9|24.9	4.583813|4.583813	0.86748|0.86748	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000538123;ENST00000361216;ENST00000392233|ENST00000447527	D;D|.	0.91068|.	-2.78;-2.78|.	4.89|4.89	4.89|4.89	0.63831|0.63831	ATPase, P-type, ATPase-associated domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87553|0.87553	0.6206|0.6206	H|H	0.97806|0.97806	4.08|4.08	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|D	0.92196|0.92196	0.5764|0.5764	10|5	0.87932|.	D|.	0|.	.|.	17.1782|17.1782	0.86846|0.86846	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	146;201;301|.	B4DHD7;F5GXJ7;P50993|.	.;.;AT1A2_HUMAN|.	W|C	146;301;301|11	ENSP00000354490:G301W;ENSP00000376066:G301W|.	ENSP00000354490:G301W|.	G|W	+|+	1|3	0|0	ATP1A2|ATP1A2	158364118|158364118	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	9.779000|9.779000	0.99018|0.99018	2.410000|2.410000	0.81850|0.81850	0.561000|0.561000	0.74099|0.74099	GGG|TGG		0.577	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		7	196	7	196	---	---	---	---
FCRLB	127943	broad.mit.edu	37	1	161693343	161693343	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:161693343C>A	ENST00000367948.2	+	5	454	c.239C>A	c.(238-240)cCa>cAa	p.P80Q	FCRLB_ENST00000367944.3_Missense_Mutation_p.P73Q|FCRLB_ENST00000367945.1_Missense_Mutation_p.P73Q|FCRLB_ENST00000367946.3_Missense_Mutation_p.P80Q|FCRLB_ENST00000336830.5_Missense_Mutation_p.P80Q|FCRLB_ENST00000392158.1_Missense_Mutation_p.P80Q			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	80	Ig-like C2-type 1.				negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GTGCAGACACCAGGGGTGTAT	0.592																																						ENST00000367948.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(238-240)cCa>cAa		Fc receptor-like B							94.0	84.0	88.0					1																	161693343		2203	4300	6503	SO:0001583	missense	127943					endoplasmic reticulum		g.chr1:161693343C>A	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26431	protein-coding gene	gene with protein product		609251	"""Fc receptor-like and mucin-like 2"""	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.239C>A	1.37:g.161693343C>A	ENSP00000356925:p.Pro80Gln		Somatic				FCRLB_ENST00000367944.3_Missense_Mutation_p.P73Q|FCRLB_ENST00000367945.1_Missense_Mutation_p.P73Q|FCRLB_ENST00000367946.3_Missense_Mutation_p.P80Q|FCRLB_ENST00000392158.1_Missense_Mutation_p.P80Q|FCRLB_ENST00000336830.5_Missense_Mutation_p.P80Q	p.P80Q			WXS	Illumina GAIIx	Phase_I	Q6BAA4	FCRLB_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		5	454	+	all_hematologic(112;0.0359)		80			Ig-like C2-type 1.		A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Missense_Mutation	SNP	ENST00000367948.2	37	c.239C>A	CCDS30927.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452387	0.84209	.	.	ENSG00000162746	ENST00000367948;ENST00000367946;ENST00000367945;ENST00000336830;ENST00000367944;ENST00000392158	T;T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74;2.74	5.61	5.61	0.85477	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.126603	0.36338	N	0.002654	T	0.21103	0.0508	L	0.43152	1.355	0.35880	D	0.828896	D;D;D;D;D	0.89917	0.998;1.0;0.999;1.0;1.0	P;D;D;D;D	0.75484	0.905;0.984;0.952;0.984;0.986	T	0.00802	-1.1560	10	0.66056	D	0.02	.	15.1472	0.72667	0.0:1.0:0.0:0.0	.	73;73;80;80;80	Q6BAA4-3;Q6BAA4-5;Q6BAA4-2;Q6BAA4-4;Q6BAA4	.;.;.;.;FCRLB_HUMAN	Q	80;80;73;80;73;80	ENSP00000356925:P80Q;ENSP00000356923:P80Q;ENSP00000356922:P73Q;ENSP00000338598:P80Q;ENSP00000356921:P73Q;ENSP00000375999:P80Q	ENSP00000338598:P80Q	P	+	2	0	FCRLB	159959967	0.999000	0.42202	0.994000	0.49952	0.950000	0.60333	3.627000	0.54252	2.629000	0.89072	0.655000	0.94253	CCA		0.592	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378		5	92	5	92	---	---	---	---
F5	2153	broad.mit.edu	37	1	169511557	169511557	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:169511557C>A	ENST00000367797.3	-	13	2972	c.2771G>T	c.(2770-2772)tGg>tTg	p.W924L	F5_ENST00000367796.3_Missense_Mutation_p.W929L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	924	2 X 17 AA tandem repeats.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AGGGTCCTTCCAGGGCCTCAT	0.488																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(2785-2787)tGg>tTg		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						106.0	112.0	110.0					1																	169511557		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169511557C>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2771G>T	1.37:g.169511557C>A	ENSP00000356771:p.Trp924Leu		Somatic				F5_ENST00000367797.3_Missense_Mutation_p.W924L	p.W929L			WXS	Illumina GAIIx	Phase_I	P12259	FA5_HUMAN			13	2987	-	all_hematologic(923;0.208)		924			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.2786G>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	3.185	-0.167156	0.06461	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.20463	2.07;2.07	5.11	0.332	0.15938	.	1.361850	0.04255	N	0.339246	T	0.02848	0.0085	N	0.14661	0.345	0.23309	N	0.997936	B	0.02656	0.0	B	0.01281	0.0	T	0.34850	-0.9812	9	0.12430	T	0.62	.	4.229	0.10594	0.1653:0.5151:0.0:0.3196	.	924	P12259	FA5_HUMAN	L	924;929	ENSP00000356771:W924L;ENSP00000356770:W929L	ENSP00000356770:W929L	W	-	2	0	F5	167778181	0.000000	0.05858	0.006000	0.13384	0.092000	0.18411	0.178000	0.16820	0.178000	0.19917	0.458000	0.33432	TGG		0.488	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		6	144	6	144	---	---	---	---
FAM129A	116496	broad.mit.edu	37	1	184787940	184787940	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:184787940C>A	ENST00000367511.3	-	9	1198	c.1005G>T	c.(1003-1005)gcG>gcT	p.A335A	RNU7-13P_ENST00000516413.1_RNA|FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	335					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						AGCTTTTCTCCGCCGGCTGGG	0.547																																						ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(1003-1005)gcG>gcT		family with sequence similarity 129, member A							110.0	113.0	112.0					1																	184787940		2203	4300	6503	SO:0001819	synonymous_variant	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184787940C>A	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1005G>T	1.37:g.184787940C>A			Somatic				FAM129A_ENST00000487074.1_5'UTR	p.A335A	NM_052966.2	NP_443198.1	WXS	Illumina GAIIx	Phase_I	Q9BZQ8	NIBAN_HUMAN			9	1198	-			335					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Silent	SNP	ENST00000367511.3	37	c.1005G>T	CCDS1364.1																																																																																				0.547	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			5	169	5	169	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186275976	186275976	+	Silent	SNP	C	C	A	rs374026500		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:186275976C>A	ENST00000445192.2	+	7	1170	c.1125C>A	c.(1123-1125)ccC>ccA	p.P375P	PRG4_ENST00000367483.4_Silent_p.P334P|PRG4_ENST00000367484.3_Silent_p.P334P|PRG4_ENST00000367486.3_Silent_p.P332P|PRG4_ENST00000367485.4_Silent_p.P282P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	375	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AGTCTGCACCCACCACCCCCA	0.637																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1123-1125)ccC>ccA		proteoglycan 4							175.0	168.0	171.0					1																	186275976		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186275976C>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1125C>A	1.37:g.186275976C>A			Somatic				PRG4_ENST00000367486.3_Silent_p.P332P|PRG4_ENST00000367484.3_Silent_p.P334P|PRG4_ENST00000367485.4_Silent_p.P282P|PRG4_ENST00000367483.4_Silent_p.P334P	p.P375P	NM_005807.3	NP_005798.2	WXS	Illumina GAIIx	Phase_I	Q92954	PRG4_HUMAN			7	1170	+			375			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1125C>A	CCDS1369.1																																																																																				0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		6	110	6	110	---	---	---	---
PARP1	142	broad.mit.edu	37	1	226550822	226550822	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:226550822G>T	ENST00000366794.5	-	21	2969	c.2826C>A	c.(2824-2826)ccC>ccA	p.P942P	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	942	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GCTTGCCCTTGGGTAACTTGC	0.512								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(2824-2826)ccC>ccA	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							194.0	158.0	170.0					1																	226550822		2203	4300	6503	SO:0001819	synonymous_variant	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226550822G>T	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2826C>A	1.37:g.226550822G>T			Somatic				PARP1_ENST00000490921.1_5'UTR	p.P942P	NM_001618.3	NP_001609.2	WXS	Illumina GAIIx	Phase_I	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	21	2969	-	Breast(184;0.133)		942			PARP catalytic.		B1ANJ4|Q8IUZ9	Silent	SNP	ENST00000366794.5	37	c.2826C>A	CCDS1554.1																																																																																				0.512	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		5	98	5	98	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232579422	232579422	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:232579422G>T	ENST00000366630.1	-	11	3721	c.3363C>A	c.(3361-3363)ccC>ccA	p.P1121P	SIPA1L2_ENST00000262861.4_Silent_p.P1121P|SIPA1L2_ENST00000308942.4_Silent_p.P195P			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1121					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACTGGTTGCTGGGTGAGCTTC	0.493																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(3361-3363)ccC>ccA		signal-induced proliferation-associated 1 like 2							77.0	88.0	85.0					1																	232579422		1957	4148	6105	SO:0001819	synonymous_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232579422G>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3363C>A	1.37:g.232579422G>T			Somatic				SIPA1L2_ENST00000308942.4_Silent_p.P195P|SIPA1L2_ENST00000262861.4_Silent_p.P1121P	p.P1121P			WXS	Illumina GAIIx	Phase_I	Q9P2F8	SI1L2_HUMAN			11	3721	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1121					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	c.3363C>A	CCDS41474.1																																																																																				0.493	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		6	143	6	143	---	---	---	---
NID1	4811	broad.mit.edu	37	1	236205549	236205549	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:236205549C>A	ENST00000264187.6	-	4	878	c.796G>T	c.(796-798)Ggg>Tgg	p.G266W	NID1_ENST00000366595.3_Missense_Mutation_p.G266W	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	266	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GCTGGACTCCCAATCTCAAAC	0.547																																						ENST00000264187.6																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(796-798)Ggg>Tgg		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						185.0	187.0	187.0					1																	236205549		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236205549C>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.796G>T	1.37:g.236205549C>A	ENSP00000264187:p.Gly266Trp		Somatic				NID1_ENST00000366595.3_Missense_Mutation_p.G266W	p.G266W	NM_002508.2	NP_002499.2	WXS	Illumina GAIIx	Phase_I	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		4	878	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	266			NIDO.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.796G>T	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.183654	0.57800	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.75260	-0.92;-0.92	5.29	5.29	0.74685	Nidogen, extracellular domain (3);	0.150102	0.64402	D	0.000011	D	0.87341	0.6153	M	0.82716	2.605	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.88726	0.3233	10	0.87932	D	0	.	17.2737	0.87109	0.0:1.0:0.0:0.0	.	266;266	P14543-2;P14543	.;NID1_HUMAN	W	266	ENSP00000264187:G266W;ENSP00000355554:G266W	ENSP00000264187:G266W	G	-	1	0	NID1	234272172	0.998000	0.40836	0.831000	0.32960	0.101000	0.19017	3.904000	0.56325	2.749000	0.94314	0.563000	0.77884	GGG		0.547	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		7	274	7	274	---	---	---	---
HEATR1	55127	broad.mit.edu	37	1	236734959	236734959	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:236734959C>A	ENST00000366582.3	-	27	3849	c.3735G>T	c.(3733-3735)caG>caT	p.Q1245H	HEATR1_ENST00000366581.2_Missense_Mutation_p.Q1164H	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1245					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CCATATTTCCCTGCTCTTGTG	0.378																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(3733-3735)caG>caT		HEAT repeat containing 1							132.0	131.0	131.0					1																	236734959		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236734959C>A	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.3735G>T	1.37:g.236734959C>A	ENSP00000355541:p.Gln1245His		Somatic				HEATR1_ENST00000366581.2_Missense_Mutation_p.Q1164H	p.Q1245H	NM_018072.5	NP_060542.4	WXS	Illumina GAIIx	Phase_I	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		27	3849	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1245					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.3735G>T	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284568	0.59867	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.66995	-0.24;3.4	5.58	2.63	0.31362	Armadillo-like helical (1);Armadillo-type fold (1);	0.172873	0.52532	N	0.000067	T	0.47783	0.1464	L	0.35854	1.095	0.80722	D	1	B;P	0.38788	0.093;0.647	B;B	0.29598	0.046;0.104	T	0.39375	-0.9617	10	0.56958	D	0.05	.	7.0456	0.25044	0.0:0.6511:0.1255:0.2234	.	1164;1245	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	H	1245;1164	ENSP00000355541:Q1245H;ENSP00000355540:Q1164H	ENSP00000355540:Q1164H	Q	-	3	2	HEATR1	234801582	0.281000	0.24258	0.998000	0.56505	0.939000	0.58152	0.181000	0.16880	0.278000	0.22164	0.585000	0.79938	CAG		0.378	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		5	55	5	55	---	---	---	---
GREB1	9687	broad.mit.edu	37	2	11718500	11718500	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:11718500C>A	ENST00000381486.2	+	6	1015	c.715C>A	c.(715-717)Ccc>Acc	p.P239T	GREB1_ENST00000389825.3_Missense_Mutation_p.P129T|GREB1_ENST00000381483.2_Missense_Mutation_p.P239T|GREB1_ENST00000234142.5_Missense_Mutation_p.P239T|GREB1_ENST00000263834.5_Missense_Mutation_p.P239T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	239						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGCTGCCTTCCCCAGCGAGCC	0.617																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(715-717)Ccc>Acc		growth regulation by estrogen in breast cancer 1							87.0	86.0	86.0					2																	11718500		2203	4300	6503	SO:0001583	missense	9687					integral to membrane		g.chr2:11718500C>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.715C>A	2.37:g.11718500C>A	ENSP00000370896:p.Pro239Thr		Somatic				GREB1_ENST00000389825.3_Missense_Mutation_p.P129T|GREB1_ENST00000234142.5_Missense_Mutation_p.P239T|GREB1_ENST00000381483.2_Missense_Mutation_p.P239T|GREB1_ENST00000263834.5_Missense_Mutation_p.P239T	p.P239T	NM_014668.3	NP_055483.2	WXS	Illumina GAIIx	Phase_I	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	6	1015	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		239					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.715C>A	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	0.051	-1.250278	0.01469	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000389825;ENST00000381483;ENST00000234142	T;T;T;T;T	0.41065	3.37;2.37;1.01;2.36;3.37	5.71	-4.73	0.03259	.	1.042200	0.07555	N	0.916086	T	0.14700	0.0355	N	0.11427	0.14	0.19945	N	0.999945	B;B;B;B	0.21753	0.002;0.06;0.007;0.0	B;B;B;B	0.18871	0.011;0.023;0.015;0.0	T	0.28038	-1.0056	10	0.05959	T	0.93	-13.0525	2.3485	0.04278	0.1772:0.2661:0.0863:0.4703	.	239;129;239;239	Q4ZG55-2;F8W6E5;Q4ZG55-3;Q4ZG55	.;.;.;GREB1_HUMAN	T	239;239;129;239;239	ENSP00000370896:P239T;ENSP00000263834:P239T;ENSP00000374475:P129T;ENSP00000370892:P239T;ENSP00000234142:P239T	ENSP00000234142:P239T	P	+	1	0	GREB1	11635951	0.010000	0.17322	0.060000	0.19600	0.124000	0.20399	-0.386000	0.07370	-0.503000	0.06586	0.655000	0.94253	CCC		0.617	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		6	140	6	140	---	---	---	---
KCNK3	3777	broad.mit.edu	37	2	26950700	26950700	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:26950700G>T	ENST00000302909.3	+	2	574	c.449G>T	c.(448-450)cGg>cTg	p.R150L		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	150					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	CTGGGCATGCGGCGCGCCGAC	0.652																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(448-450)cGg>cTg		potassium channel, subfamily K, member 3							71.0	65.0	67.0					2																	26950700		2203	4300	6503	SO:0001583	missense	3777				synaptic transmission	integral to plasma membrane		g.chr2:26950700G>T	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.449G>T	2.37:g.26950700G>T	ENSP00000306275:p.Arg150Leu		Somatic					p.R150L	NM_002246.2	NP_002237.1	WXS	Illumina GAIIx	Phase_I	O14649	KCNK3_HUMAN			2	574	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		150					Q53SU2	Missense_Mutation	SNP	ENST00000302909.3	37	c.449G>T	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607821	0.87258	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.21734	1.99	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	M	0.83483	2.645	0.49389	D	0.999787	D	0.55800	0.973	P	0.56042	0.79	T	0.50127	-0.8864	10	0.72032	D	0.01	.	16.7393	0.85455	0.0:0.0:1.0:0.0	.	150	O14649	KCNK3_HUMAN	L	27;150	ENSP00000306275:R150L	ENSP00000306275:R150L	R	+	2	0	KCNK3	26804204	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.757000	0.74924	2.619000	0.88677	0.561000	0.74099	CGG		0.652	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246		5	102	5	102	---	---	---	---
CGREF1	10669	broad.mit.edu	37	2	27324270	27324270	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:27324270C>A	ENST00000260595.5	-	7	1070	c.778G>T	c.(778-780)Ggg>Tgg	p.G260W	CGREF1_ENST00000402394.1_Missense_Mutation_p.G277W|CGREF1_ENST00000405600.1_Missense_Mutation_p.G277W|CGREF1_ENST00000404694.3_Missense_Mutation_p.G399W|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.G277W			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	260					cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCTGGCCCCCAGCTTCCCCT	0.637																																						ENST00000402394.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10						c.(829-831)Ggg>Tgg		cell growth regulator with EF-hand domain 1							132.0	150.0	144.0					2																	27324270		2203	4300	6503	SO:0001583	missense	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27324270C>A	BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"""EF-hand domain containing"""	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.778G>T	2.37:g.27324270C>A	ENSP00000260595:p.Gly260Trp		Somatic				CGREF1_ENST00000260595.5_Missense_Mutation_p.G260W|CGREF1_ENST00000405600.1_Missense_Mutation_p.G277W|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.G277W|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000404694.3_Missense_Mutation_p.G399W	p.G277W	NM_006569.5	NP_006560.3	WXS	Illumina GAIIx	Phase_I	Q99674	CGRE1_HUMAN			6	1097	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		260					A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Missense_Mutation	SNP	ENST00000260595.5	37	c.829G>T		.	.	.	.	.	.	.	.	.	.	C	11.08	1.534539	0.27475	.	.	ENSG00000138028	ENST00000402394;ENST00000405600;ENST00000389521;ENST00000312734;ENST00000404694;ENST00000260595	T;T;T;T;T	0.80480	-1.19;-1.19;-1.19;-1.24;-1.38	5.3	-1.01	0.10169	.	.	.	.	.	T	0.73953	0.3653	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.64487	-0.6396	6	0.59425	D	0.04	-17.5109	4.1981	0.10453	0.249:0.4593:0.0:0.2917	.	.	.	.	W	277;277;260;277;399;260	ENSP00000385452:G277W;ENSP00000386113:G277W;ENSP00000324025:G277W;ENSP00000385574:G399W;ENSP00000260595:G260W	ENSP00000260595:G260W	G	-	1	0	CGREF1	27177774	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.289000	0.08365	-0.528000	0.06366	-0.298000	0.09462	GGG		0.637	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		9	377	9	377	---	---	---	---
CEP68	23177	broad.mit.edu	37	2	65299088	65299088	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:65299088C>A	ENST00000377990.2	+	3	1061	c.858C>A	c.(856-858)ccC>ccA	p.P286P	CEP68_ENST00000497039.1_3'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000260569.4_Silent_p.P286P|CEP68_ENST00000546106.1_Silent_p.P286P|CEP68_ENST00000537589.1_5'UTR	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	286					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTCCATCACCCGACCGCCACT	0.577																																						ENST00000377990.2																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(856-858)ccC>ccA		centrosomal protein 68kDa							69.0	79.0	76.0					2																	65299088		2203	4300	6503	SO:0001819	synonymous_variant	23177				centrosome organization	centrosome		g.chr2:65299088C>A	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.858C>A	2.37:g.65299088C>A			Somatic				RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000260569.4_Silent_p.P286P|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000546106.1_Silent_p.P286P	p.P286P	NM_015147.2	NP_055962.2	WXS	Illumina GAIIx	Phase_I	Q76N32	CEP68_HUMAN			3	1061	+			286					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Silent	SNP	ENST00000377990.2	37	c.858C>A	CCDS1880.2																																																																																				0.577	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		6	160	6	160	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71730401	71730401	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:71730401C>A	ENST00000258104.3	+	4	571	c.294C>A	c.(292-294)tcC>tcA	p.S98S	DYSF_ENST00000409744.1_Silent_p.S99S|DYSF_ENST00000409762.1_Silent_p.S98S|DYSF_ENST00000429174.2_Silent_p.S98S|DYSF_ENST00000409582.3_Silent_p.S98S|DYSF_ENST00000409651.1_Silent_p.S99S|DYSF_ENST00000409366.1_Silent_p.S99S|DYSF_ENST00000394120.2_Silent_p.S99S|DYSF_ENST00000410020.3_Silent_p.S99S|DYSF_ENST00000410041.1_Silent_p.S99S|DYSF_ENST00000413539.2_Silent_p.S98S	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	98					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTAGTCTGTCCGCCAGCTTCA	0.587																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(292-294)tcC>tcA		dysferlin							112.0	111.0	111.0					2																	71730401		2203	4300	6503	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71730401C>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.294C>A	2.37:g.71730401C>A			Somatic				DYSF_ENST00000409651.1_Silent_p.S99S|DYSF_ENST00000410020.3_Silent_p.S99S|DYSF_ENST00000410041.1_Silent_p.S99S|DYSF_ENST00000429174.2_Silent_p.S98S|DYSF_ENST00000413539.2_Silent_p.S98S|DYSF_ENST00000409744.1_Silent_p.S99S|DYSF_ENST00000409762.1_Silent_p.S98S|DYSF_ENST00000409366.1_Silent_p.S99S|DYSF_ENST00000409582.3_Silent_p.S98S|DYSF_ENST00000394120.2_Silent_p.S99S	p.S98S	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	WXS	Illumina GAIIx	Phase_I	O75923	DYSF_HUMAN			4	571	+			98					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.294C>A	CCDS1918.1																																																																																				0.587	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		5	138	5	138	---	---	---	---
TTC31	64427	broad.mit.edu	37	2	74720244	74720244	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:74720244C>A	ENST00000233623.5	+	13	1466	c.1459C>A	c.(1459-1461)Cag>Aag	p.Q487K	TTC31_ENST00000410003.1_3'UTR|TTC31_ENST00000442235.2_Silent_p.P145P	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	487										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GCCCCTCTCCCAGACTCAGAG	0.597																																						ENST00000233623.5																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(1459-1461)Cag>Aag		tetratricopeptide repeat domain 31							105.0	111.0	109.0					2																	74720244		1928	4114	6042	SO:0001583	missense	64427						binding	g.chr2:74720244C>A	AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"""Tetratricopeptide (TTC) repeat domain containing"""	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.1459C>A	2.37:g.74720244C>A	ENSP00000233623:p.Gln487Lys		Somatic				TTC31_ENST00000410003.1_3'UTR|TTC31_ENST00000442235.2_Silent_p.P145P	p.Q487K	NM_022492.4	NP_071937.4	WXS	Illumina GAIIx	Phase_I	Q49AM3	TTC31_HUMAN			13	1466	+			487					Q4KN40|Q53FD4|Q9H9F7	Missense_Mutation	SNP	ENST00000233623.5	37	c.1459C>A	CCDS42701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.52|12.52	1.963722|1.963722	0.34659|0.34659	.|.	.|.	ENSG00000115282|ENSG00000115282	ENST00000435361|ENST00000233623	.|T	.|0.64803	.|-0.12	3.63|3.63	3.63|3.63	0.41609|0.41609	.|.	.|0.354377	.|0.26016	.|N	.|0.026860	T|T	0.45498|0.45498	0.1345|0.1345	L|L	0.32530|0.32530	0.975|0.975	0.58432|0.58432	D|D	0.999995|0.999995	.|B;P	.|0.40970	.|0.11;0.734	.|B;B	.|0.34652	.|0.145;0.187	T|T	0.42932|0.42932	-0.9422|-0.9422	6|10	0.87932|0.30854	D|T	0|0.27	.|.	10.9893|10.9893	0.47541|0.47541	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|455;487	.|Q86XF2;Q49AM3	.|.;TTC31_HUMAN	Q|K	152|487	.|ENSP00000233623:Q487K	ENSP00000397652:P152Q|ENSP00000233623:Q487K	P|Q	+|+	2|1	0|0	TTC31|TTC31	74573752|74573752	0.954000|0.954000	0.32549|0.32549	0.187000|0.187000	0.23214|0.23214	0.110000|0.110000	0.19582|0.19582	2.888000|2.888000	0.48594|0.48594	2.031000|2.031000	0.59945|0.59945	0.491000|0.491000	0.48974|0.48974	CCA|CAG		0.597	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	NM_022492		8	167	8	167	---	---	---	---
M1AP	130951	broad.mit.edu	37	2	74789417	74789417	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:74789417C>A	ENST00000290536.5	-	8	1324	c.1208G>T	c.(1207-1209)cGg>cTg	p.R403L	M1AP_ENST00000536235.1_Missense_Mutation_p.R403L|M1AP_ENST00000409585.1_Missense_Mutation_p.R403L|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000358434.2_Intron	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	403					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.R403Q(1)									CATCAGTTCCCGCGTGGCCAC	0.587																																						ENST00000290536.5																			1	Substitution - Missense(1)	p.R403Q(1)	endometrium(1)								c.(1207-1209)cGg>cTg		meiosis 1 associated protein							201.0	170.0	181.0					2																	74789417		2203	4300	6503	SO:0001583	missense	130951							g.chr2:74789417C>A		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.1208G>T	2.37:g.74789417C>A	ENSP00000290536:p.Arg403Leu		Somatic				M1AP_ENST00000358434.2_Intron|M1AP_ENST00000409585.1_Missense_Mutation_p.R403L|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.R403L	p.R403L	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	WXS	Illumina GAIIx	Phase_I					8	1324	-								B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP	ENST00000290536.5	37	c.1208G>T	CCDS33229.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618328	0.66787	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235	T;T;T	0.50548	0.74;0.74;0.74	5.41	5.41	0.78517	.	0.129832	0.49305	D	0.000143	T	0.45357	0.1338	L	0.59436	1.845	0.80722	D	1	P;P;P	0.44241	0.554;0.554;0.829	B;B;B	0.38985	0.242;0.242;0.287	T	0.48375	-0.9041	10	0.46703	T	0.11	-13.6368	14.7033	0.69171	0.0:1.0:0.0:0.0	.	403;403;159	E9PGG8;Q8TC57;B3KX03	.;CB065_HUMAN;.	L	403	ENSP00000290536:R403L;ENSP00000386793:R403L;ENSP00000445662:R403L	ENSP00000290536:R403L	R	-	2	0	C2orf65	74642925	1.000000	0.71417	0.940000	0.37924	0.484000	0.33280	5.514000	0.67043	2.535000	0.85469	0.655000	0.94253	CGG		0.587	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804		6	164	6	164	---	---	---	---
REG3G	130120	broad.mit.edu	37	2	79253898	79253898	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:79253898G>T	ENST00000272324.5	+	3	320	c.136G>T	c.(136-138)Gcc>Tcc	p.A46S	REG3G_ENST00000409471.1_Missense_Mutation_p.A46S|REG3G_ENST00000393897.2_Missense_Mutation_p.A46S	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	46					acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGCTCCAAGGCCTATGGCTC	0.512																																						ENST00000272324.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(136-138)Gcc>Tcc		regenerating islet-derived 3 gamma							88.0	85.0	86.0					2																	79253898		2203	4300	6503	SO:0001583	missense	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79253898G>T	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.136G>T	2.37:g.79253898G>T	ENSP00000272324:p.Ala46Ser		Somatic				REG3G_ENST00000409471.1_Missense_Mutation_p.A46S|REG3G_ENST00000393897.2_Missense_Mutation_p.A46S	p.A46S	NM_001008387.2	NP_001008388.1	WXS	Illumina GAIIx	Phase_I	Q6UW15	REG3G_HUMAN			3	320	+			46					A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	c.136G>T	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.605878	0.66445	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.16457	4.3;4.3;2.34	5.05	1.2	0.21068	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.116181	0.39083	N	0.001466	T	0.32852	0.0843	M	0.89414	3.03	0.09310	N	1	D;B	0.62365	0.991;0.002	P;B	0.58970	0.849;0.024	T	0.18398	-1.0338	10	0.24483	T	0.36	.	3.8989	0.09152	0.2668:0.0:0.5664:0.1667	.	46;46	Q3SYE6;Q6UW15	.;REG3G_HUMAN	S	46	ENSP00000377475:A46S;ENSP00000272324:A46S;ENSP00000387105:A46S	ENSP00000272324:A46S	A	+	1	0	REG3G	79107406	0.001000	0.12720	0.000000	0.03702	0.527000	0.34593	0.641000	0.24720	0.105000	0.17753	0.655000	0.94253	GCC		0.512	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		12	58	12	58	---	---	---	---
KANSL3	55683	broad.mit.edu	37	2	97271200	97271200	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:97271200C>A	ENST00000431828.1	-	15	1866	c.1790G>T	c.(1789-1791)aGg>aTg	p.R597M	KANSL3_ENST00000440133.1_Missense_Mutation_p.R417M|KANSL3_ENST00000441706.2_Missense_Mutation_p.R510M|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000599854.1_Missense_Mutation_p.R510M			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	623					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CAGCTGAACCCTAAGATCCTC	0.502																																						ENST00000599854.1																			0											c.(1528-1530)aGg>aTg		KAT8 regulatory NSL complex subunit 3							114.0	115.0	115.0					2																	97271200		1987	4158	6145	SO:0001583	missense	55683							g.chr2:97271200C>A	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1790G>T	2.37:g.97271200C>A	ENSP00000396749:p.Arg597Met		Somatic				KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000431828.1_Missense_Mutation_p.R597M|KANSL3_ENST00000441706.2_Missense_Mutation_p.R510M|KANSL3_ENST00000440133.1_Missense_Mutation_p.R417M	p.R510M	NM_001115016.2	NP_001108488.1	WXS	Illumina GAIIx	Phase_I	Q9P2N6	K1310_HUMAN			15	1996	-			623					A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	37	c.1529G>T	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158596	0.78226	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000441706;ENST00000440133;ENST00000444759	T;T	0.55760	0.5;0.55	6.06	5.18	0.71444	.	0.165885	0.47852	D	0.000204	T	0.56140	0.1965	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.71674	0.992;0.99;0.99;0.998	P;P;P;P	0.61592	0.707;0.73;0.799;0.891	T	0.58295	-0.7661	10	0.49607	T	0.09	.	12.9	0.58121	0.0:0.9223:0.0:0.0777	.	391;597;510;485	B4E1W4;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;.;.;.	M	510;485;597;510;417;391	ENSP00000396749:R597M;ENSP00000406207:R417M	ENSP00000346144:R510M	R	-	2	0	KIAA1310	96634927	0.100000	0.21855	0.974000	0.42286	0.996000	0.88848	3.655000	0.54460	1.579000	0.49836	0.655000	0.94253	AGG		0.502	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991		6	108	6	108	---	---	---	---
RPL31	6160	broad.mit.edu	37	2	101619172	101619172	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:101619172C>A	ENST00000264258.3	+	2	610	c.9C>A	c.(7-9)ccC>ccA	p.P3P	RPL31_ENST00000409711.1_Silent_p.P3P|AC016738.4_ENST00000452364.1_RNA|RPL31_ENST00000409650.1_Silent_p.P3P|RPL31_ENST00000409000.1_Silent_p.P3P|RPL31_ENST00000409320.3_Silent_p.P3P|RPL31_ENST00000409733.1_Silent_p.P3P|RPL31_ENST00000409038.1_Silent_p.P3P|RPL31_ENST00000409028.4_Silent_p.P3P	NM_000993.4	NP_000984.1	P62899	RL31_HUMAN	ribosomal protein L31	3					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						AGATGGCTCCCGCAAAGAAGG	0.547																																						ENST00000409711.1																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						c.(7-9)ccC>ccA		ribosomal protein L31							56.0	55.0	55.0					2																	101619172		2203	4300	6503	SO:0001819	synonymous_variant	6160				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr2:101619172C>A	X15940	CCDS2049.1, CCDS46373.1, CCDS46374.1	2q11.2	2011-04-06			ENSG00000071082	ENSG00000071082		"""L ribosomal proteins"""	10334	protein-coding gene	gene with protein product						2780320, 11875025	Standard	NM_000993		Approved	L31	uc010fiu.1	P62899	OTTHUMG00000130687	ENST00000264258.3:c.9C>A	2.37:g.101619172C>A			Somatic				RPL31_ENST00000409038.1_Silent_p.P3P|RPL31_ENST00000409000.1_Silent_p.P3P|RPL31_ENST00000264258.3_Silent_p.P3P|RPL31_ENST00000409650.1_Silent_p.P3P|RPL31_ENST00000409028.4_Silent_p.P3P|RPL31_ENST00000409733.1_Silent_p.P3P|RPL31_ENST00000409320.3_Silent_p.P3P	p.P3P			WXS	Illumina GAIIx	Phase_I	P62899	RL31_HUMAN			1	20	+			3					B7Z4K2|D3DVJ4|P12947|Q53SQ5|Q6IRZ0|Q6LBJ6	Silent	SNP	ENST00000264258.3	37	c.9C>A	CCDS2049.1																																																																																				0.547	RPL31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253182.3	NM_001098577		4	59	4	59	---	---	---	---
MAP4K4	9448	broad.mit.edu	37	2	102456434	102456434	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:102456434C>A	ENST00000347699.4	+	10	927	c.927C>A	c.(925-927)acC>acA	p.T309T	MAP4K4_ENST00000324219.4_Silent_p.T309T|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000350198.4_Silent_p.T309T|MAP4K4_ENST00000350878.4_Silent_p.T289T|MAP4K4_ENST00000413150.2_Silent_p.T309T|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000425019.1_Silent_p.T309T	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	309					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TAGATCGTACCAGGAAGAAGA	0.403																																						ENST00000413150.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(925-927)acC>acA		mitogen-activated protein kinase kinase kinase kinase 4							76.0	71.0	73.0					2																	102456434		1859	4096	5955	SO:0001819	synonymous_variant	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102456434C>A	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.927C>A	2.37:g.102456434C>A			Somatic				MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000350198.4_Silent_p.T309T|MAP4K4_ENST00000324219.4_Silent_p.T309T|MAP4K4_ENST00000425019.1_Silent_p.T309T|MAP4K4_ENST00000347699.4_Silent_p.T309T|MAP4K4_ENST00000350878.4_Silent_p.T289T	p.T309T	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	WXS	Illumina GAIIx	Phase_I	O95819	M4K4_HUMAN			10	982	+			309					O75172|Q9NST7	Silent	SNP	ENST00000347699.4	37	c.927C>A	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	C	8.588	0.883824	0.17467	.	.	ENSG00000071054	ENST00000421882	.	.	.	5.91	2.95	0.34219	.	.	.	.	.	T	0.52517	0.1739	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44544	-0.9321	4	.	.	.	.	4.9006	0.13773	0.2507:0.4408:0.2429:0.0657	.	.	.	.	K	49	.	.	Q	+	1	0	MAP4K4	101822866	0.993000	0.37304	1.000000	0.80357	0.954000	0.61252	0.415000	0.21181	0.777000	0.33496	-0.176000	0.13171	CAG		0.403	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		5	82	5	82	---	---	---	---
IWS1	55677	broad.mit.edu	37	2	128281334	128281334	+	Missense_Mutation	SNP	C	C	A	rs569626200		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:128281334C>A	ENST00000295321.4	-	2	327	c.68G>T	c.(67-69)cGg>cTg	p.R23L	IWS1_ENST00000486662.1_Intron|IWS1_ENST00000455721.2_Missense_Mutation_p.R30L	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	23					mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R23L(1)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CCCTGAATCCCGTTCATCCTG	0.423																																						ENST00000295321.4																			1	Substitution - Missense(1)	p.R23L(1)	lung(1)	cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(67-69)cGg>cTg		IWS1 homolog (S. cerevisiae)							250.0	213.0	226.0					2																	128281334		2203	4300	6503	SO:0001583	missense	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128281334C>A	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.68G>T	2.37:g.128281334C>A	ENSP00000295321:p.Arg23Leu		Somatic				IWS1_ENST00000455721.2_Missense_Mutation_p.R30L|IWS1_ENST00000486662.1_Intron	p.R23L	NM_017969.2	NP_060439.2	WXS	Illumina GAIIx	Phase_I	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	2	327	-	Colorectal(110;0.1)		23					Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	c.68G>T	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993841	0.93167	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721;ENST00000409725	T;T	0.43294	0.95;0.97	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000003	T	0.57403	0.2051	L	0.53249	1.67	0.53005	D	0.99996	D	0.69078	0.997	P	0.59948	0.866	T	0.56195	-0.8019	10	0.56958	D	0.05	-11.7597	16.9798	0.86324	0.0:1.0:0.0:0.0	.	23	Q96ST2	IWS1_HUMAN	L	23;23;30;28	ENSP00000295321:R23L;ENSP00000399245:R30L	ENSP00000295321:R23L	R	-	2	0	IWS1	127997804	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.064000	0.49986	2.741000	0.93983	0.650000	0.86243	CGG		0.423	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		5	239	5	239	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141777643	141777643	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:141777643C>A	ENST00000389484.3	-	12	2789	c.1818G>T	c.(1816-1818)gtG>gtT	p.V606V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	606					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAATCCAGTCCACAGCAATGC	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(1816-1818)gtG>gtT		low density lipoprotein receptor-related protein 1B							97.0	98.0	98.0					2																	141777643		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141777643C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1818G>T	2.37:g.141777643C>A		TSP Lung(27;0.18)	Somatic					p.V606V	NM_018557.2	NP_061027.2	WXS	Illumina GAIIx	Phase_I	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	12	2789	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	606					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.1818G>T	CCDS2182.1																																																																																				0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	131	6	131	---	---	---	---
LY75	4065	broad.mit.edu	37	2	160709826	160709826	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:160709826C>A	ENST00000263636.4	-	20	2728	c.2701G>T	c.(2701-2703)Gga>Tga	p.G901*	LY75_ENST00000554112.1_Nonsense_Mutation_p.G901*|LY75_ENST00000553424.1_Nonsense_Mutation_p.G901*|LY75-CD302_ENST00000504764.1_Nonsense_Mutation_p.G901*|LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.G901*	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	901	C-type lectin 5. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CATTCCTCTCCAAATGTCACA	0.358																																						ENST00000263636.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(2701-2703)Gga>Tga		lymphocyte antigen 75							91.0	94.0	93.0					2																	160709826		2203	4300	6503	SO:0001587	stop_gained	4065							g.chr2:160709826C>A	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.2701G>T	2.37:g.160709826C>A	ENSP00000263636:p.Gly901*		Somatic				LY75_ENST00000554112.1_Nonsense_Mutation_p.G901*|LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.G901*|LY75_ENST00000553424.1_Nonsense_Mutation_p.G901*|LY75-CD302_ENST00000504764.1_Nonsense_Mutation_p.G901*	p.G901*	NM_002349.3	NP_002340.2	WXS	Illumina GAIIx	Phase_I				COAD - Colon adenocarcinoma(177;0.132)	20	2728	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Nonsense_Mutation	SNP	ENST00000263636.4	37	c.2701G>T	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	C	37	6.426821	0.97559	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	.	.	.	4.88	3.04	0.35103	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-7.6096	8.1219	0.30976	0.1722:0.6417:0.1861:0.0	.	.	.	.	X	901	.	ENSP00000423463:G901X	G	-	1	0	LY75;LY75-CD302	160418072	0.419000	0.25449	0.521000	0.27850	0.575000	0.36095	1.237000	0.32695	0.726000	0.32339	0.561000	0.74099	GGA		0.358	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			5	87	5	87	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166848589	166848589	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:166848589G>T	ENST00000303395.4	-	26	5195	c.5196C>A	c.(5194-5196)ccC>ccA	p.P1732P	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.P1721P|SCN1A_ENST00000409050.1_Silent_p.P1704P|SCN1A_ENST00000423058.2_Silent_p.P1732P|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1732					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTTGAGAATGGGTGCTAGCA	0.458																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(5194-5196)ccC>ccA		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						201.0	199.0	200.0					2																	166848589		2203	4300	6503	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848589G>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5196C>A	2.37:g.166848589G>T			Somatic				SCN1A_ENST00000375405.3_Silent_p.P1721P|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Silent_p.P1732P|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.P1704P	p.P1732P	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	WXS	Illumina GAIIx	Phase_I	P35498	SCN1A_HUMAN			26	5213	-			1732					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.5196C>A	CCDS54413.1																																																																																				0.458	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		8	275	8	275	---	---	---	---
CHN1	1123	broad.mit.edu	37	2	175677131	175677131	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:175677131C>A	ENST00000409900.3	-	9	1105	c.792G>T	c.(790-792)aaG>aaT	p.K264N	CHN1_ENST00000409156.3_Missense_Mutation_p.K238N|CHN1_ENST00000295497.7_Missense_Mutation_p.K139N|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409597.1_Missense_Mutation_p.K80N	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	264					ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)	p.K264N(1)|p.K139N(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			AGCTGTACACCTTTTTGACAT	0.443			T	TAF15	extraskeletal myxoid chondrosarcoma																																	ENST00000409900.3				Dom	yes		2	2q31-q32.1	1123	T	chimerin (chimaerin) 1			M	TAF15		extraskeletal myxoid chondrosarcoma		2	Substitution - Missense(2)	p.K264N(1)|p.K139N(1)	lung(2)	NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(790-792)aaG>aaT		chimerin 1							202.0	187.0	192.0					2																	175677131		1988	4175	6163	SO:0001583	missense	1123				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr2:175677131C>A		CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.792G>T	2.37:g.175677131C>A	ENSP00000386741:p.Lys264Asn		Somatic				CHN1_ENST00000409597.1_Missense_Mutation_p.K80N|CHN1_ENST00000409156.3_Missense_Mutation_p.K238N|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000295497.7_Missense_Mutation_p.K139N	p.K264N	NM_001822.5	NP_001813.1	WXS	Illumina GAIIx	Phase_I	P15882	CHIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.226)		9	1105	-			264					A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	ENST00000409900.3	37	c.792G>T	CCDS46455.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017458	0.75161	.	.	ENSG00000128656	ENST00000409900;ENST00000295497;ENST00000409597;ENST00000409156;ENST00000409089;ENST00000444394;ENST00000413882;ENST00000443238;ENST00000444573	T;T;T;T;T;T;T;T;D	0.92965	2.76;2.76;2.76;2.76;2.76;2.76;2.76;2.76;-3.14	6.05	0.585	0.17428	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.040721	0.85682	N	0.000000	D	0.91395	0.7285	L	0.45352	1.415	0.58432	D	0.999995	P;D;D	0.69078	0.952;0.975;0.997	P;P;D	0.63283	0.637;0.821;0.913	D	0.87850	0.2657	10	0.56958	D	0.05	.	6.317	0.21196	0.0:0.4025:0.1261:0.4714	.	238;264;139	B4DV19;P15882;P15882-2	.;CHIN_HUMAN;.	N	264;139;80;238;56;39;82;90;156	ENSP00000386741:K264N;ENSP00000295497:K139N;ENSP00000386469:K80N;ENSP00000386470:K238N;ENSP00000386322:K56N;ENSP00000411911:K39N;ENSP00000410496:K82N;ENSP00000409798:K90N;ENSP00000392603:K156N	ENSP00000295497:K139N	K	-	3	2	CHN1	175385377	0.999000	0.42202	0.998000	0.56505	0.997000	0.91878	0.584000	0.23864	0.034000	0.15491	0.650000	0.86243	AAG		0.443	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1	NM_001822		6	121	6	121	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179424579	179424579	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:179424579C>A	ENST00000591111.1	-	276	81581	c.81357G>T	c.(81355-81357)atG>atT	p.M27119I	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M26192I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M19887I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.M28760I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M19820I|TTN_ENST00000460472.2_Missense_Mutation_p.M19695I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27119	Ig-like 129.				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)			AGGTCTTCCTCATTTCACTGT	0.458																																						ENST00000589042.1																			0				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						c.(86278-86280)atG>atT		titin							147.0	142.0	143.0					2																	179424579		1971	4167	6138	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179424579C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.81357G>T	2.37:g.179424579C>A	ENSP00000465570:p.Met27119Ile		Somatic				TTN_ENST00000460472.2_Missense_Mutation_p.M19695I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M27119I|TTN_ENST00000342992.6_Missense_Mutation_p.M26192I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M19887I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M19820I|TTN-AS1_ENST00000592750.1_RNA	p.M28760I	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	86504	-			27119			Fibronectin type-III 109.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.86280G>T		.	.	.	.	.	.	.	.	.	.	C	13.95	2.390371	0.42410	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61859	0.07;0.23;0.22;0.19	5.87	4.99	0.66335	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48624	0.1510	L	0.29908	0.895	0.58432	D	0.999997	B;B;B;B	0.31125	0.309;0.201;0.309;0.201	B;B;B;B	0.28232	0.087;0.087;0.087;0.087	T	0.51888	-0.8648	9	0.87932	D	0	.	17.5919	0.87999	0.0:0.8768:0.1232:0.0	.	19695;19820;19887;27119	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	26192;19695;19887;19820;19692	ENSP00000343764:M26192I;ENSP00000434586:M19695I;ENSP00000340554:M19887I;ENSP00000352154:M19820I	ENSP00000340554:M19887I	M	-	3	0	TTN	179132825	1.000000	0.71417	0.991000	0.47740	0.929000	0.56500	7.729000	0.84864	1.601000	0.50113	0.655000	0.94253	ATG		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	191	6	191	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179449161	179449161	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:179449161C>A	ENST00000591111.1	-	261	60418	c.60194G>T	c.(60193-60195)tGg>tTg	p.W20065L	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W19138L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W12833L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.W21706L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W12766L|TTN_ENST00000460472.2_Missense_Mutation_p.W12641L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20065	Fibronectin type-III 45. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTTTCACCCACAGCAAACT	0.428																																						ENST00000589042.1																			0				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						c.(65116-65118)tGg>tTg		titin							106.0	102.0	103.0					2																	179449161		1910	4136	6046	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179449161C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.60194G>T	2.37:g.179449161C>A	ENSP00000465570:p.Trp20065Leu		Somatic				TTN_ENST00000460472.2_Missense_Mutation_p.W12641L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W20065L|TTN_ENST00000342992.6_Missense_Mutation_p.W19138L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W12833L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W12766L|TTN-AS1_ENST00000592750.1_RNA	p.W21706L	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		311	65341	-			20065			Ig-like 114.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.65117G>T		.	.	.	.	.	.	.	.	.	.	C	17.32	3.358815	0.61403	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.97	5.97	0.96955	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82398	0.5028	H	0.95224	3.64	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.86547	0.1832	9	0.87932	D	0	.	20.4062	0.99009	0.0:1.0:0.0:0.0	.	12641;12766;12833;20065	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	19138;12641;12833;12766;12639	ENSP00000343764:W19138L;ENSP00000434586:W12641L;ENSP00000340554:W12833L;ENSP00000352154:W12766L	ENSP00000340554:W12833L	W	-	2	0	TTN	179157407	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.770000	0.85390	2.831000	0.97527	0.655000	0.94253	TGG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	97	5	97	---	---	---	---
WDFY1	57590	broad.mit.edu	37	2	224746771	224746771	+	Missense_Mutation	SNP	C	C	A	rs144919121		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:224746771C>A	ENST00000233055.4	-	10	1054	c.952G>T	c.(952-954)Ggg>Tgg	p.G318W		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	318						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		ACAGCCTGCCCGCATTTCCTG	0.512																																						ENST00000233055.4																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18						c.(952-954)Ggg>Tgg		WD repeat and FYVE domain containing 1							171.0	175.0	174.0					2																	224746771		2203	4300	6503	SO:0001583	missense	57590					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding	g.chr2:224746771C>A	AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.952G>T	2.37:g.224746771C>A	ENSP00000233055:p.Gly318Trp		Somatic					p.G318W	NM_020830.3	NP_065881.1	WXS	Illumina GAIIx	Phase_I	Q8IWB7	WDFY1_HUMAN		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)	10	1054	-		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)	318					Q53S17|Q9H9D5|Q9P2B3	Missense_Mutation	SNP	ENST00000233055.4	37	c.952G>T	CCDS33387.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872266	0.91587	.	.	ENSG00000085449	ENST00000233055	D	0.85629	-2.01	5.9	5.9	0.94986	Zinc finger, RING/FYVE/PHD-type (1);WD40 repeat-like-containing domain (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.95881	0.8659	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95617	0.8677	10	0.38643	T	0.18	-26.3478	20.2789	0.98501	0.0:1.0:0.0:0.0	.	318	Q8IWB7	WDFY1_HUMAN	W	318	ENSP00000233055:G318W	ENSP00000233055:G318W	G	-	1	0	WDFY1	224455015	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	7.484000	0.81180	2.788000	0.95919	0.650000	0.86243	GGG		0.512	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830		6	286	6	286	---	---	---	---
SGOL1	151648	broad.mit.edu	37	3	20219807	20219807	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:20219807G>T	ENST00000263753.4	-	4	511	c.372C>A	c.(370-372)ccC>ccA	p.P124P	SGOL1_ENST00000452020.1_Silent_p.P124P|SGOL1_ENST00000437051.1_Silent_p.P124P|SGOL1_ENST00000383774.1_Silent_p.P124P|SGOL1_ENST00000425061.1_Silent_p.P124P|SGOL1_ENST00000419233.2_Silent_p.P124P|SGOL1_ENST00000412997.1_Silent_p.P124P|SGOL1_ENST00000412868.1_Silent_p.P124P|SGOL1_ENST00000443724.1_Silent_p.P124P|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000417364.1_Silent_p.P124P|SGOL1_ENST00000429446.3_Silent_p.P124P|SGOL1_ENST00000442720.1_Silent_p.P124P|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000306698.2_Silent_p.P124P|SGOL1_ENST00000421451.1_Silent_p.P124P	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	124	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						CATCACTATTGGGGTCCATTC	0.299																																						ENST00000412997.1																			0				kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						c.(370-372)ccC>ccA		shugoshin-like 1 (S. pombe)							100.0	103.0	102.0					3																	20219807		2203	4299	6502	SO:0001819	synonymous_variant	151648				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	g.chr3:20219807G>T	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.372C>A	3.37:g.20219807G>T			Somatic				SGOL1_ENST00000452020.1_Silent_p.P124P|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000383774.1_Silent_p.P124P|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000306698.2_Silent_p.P124P|SGOL1_ENST00000263753.4_Silent_p.P124P|SGOL1_ENST00000419233.2_Silent_p.P124P|SGOL1_ENST00000443724.1_Silent_p.P124P|SGOL1_ENST00000429446.3_Silent_p.P124P|SGOL1_ENST00000417364.1_Silent_p.P124P|SGOL1_ENST00000442720.1_Silent_p.P124P|SGOL1_ENST00000437051.1_Silent_p.P124P|SGOL1_ENST00000425061.1_Silent_p.P124P|SGOL1_ENST00000421451.1_Silent_p.P124P|SGOL1_ENST00000412868.1_Silent_p.P124P	p.P124P	NM_001199251.1	NP_001186180.1	WXS	Illumina GAIIx	Phase_I	Q5FBB7	SGOL1_HUMAN			4	723	-			124			Necessary for interaction with PPP2CA and PPP2R1A.		Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Silent	SNP	ENST00000263753.4	37	c.372C>A	CCDS33716.1																																																																																				0.299	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484		6	109	6	109	---	---	---	---
DLEC1	9940	broad.mit.edu	37	3	38139373	38139373	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:38139373C>A	ENST00000308059.6	+	18	2725	c.2704C>A	c.(2704-2706)Ctc>Atc	p.L902I	DLEC1_ENST00000346219.3_Missense_Mutation_p.L902I|DLEC1_ENST00000452631.2_Missense_Mutation_p.L902I					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCCAGTCTCCCTCCAGGAAAG	0.597																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(2704-2706)Ctc>Atc		deleted in lung and esophageal cancer 1							51.0	56.0	54.0					3																	38139373		2136	4256	6392	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38139373C>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2704C>A	3.37:g.38139373C>A	ENSP00000308597:p.Leu902Ile		Somatic				DLEC1_ENST00000346219.3_Missense_Mutation_p.L902I|DLEC1_ENST00000452631.2_Missense_Mutation_p.L902I	p.L902I			WXS	Illumina GAIIx	Phase_I	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	18	2725	+			902						Missense_Mutation	SNP	ENST00000308059.6	37	c.2704C>A	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	C	15.83	2.947646	0.53186	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.06218	3.35;3.33;3.57	5.16	5.16	0.70880	.	0.295265	0.24698	N	0.036323	T	0.21841	0.0526	M	0.72894	2.215	0.38503	D	0.948289	D;D;D;D	0.69078	0.997;0.978;0.994;0.996	P;P;P;P	0.61940	0.896;0.853;0.822;0.862	T	0.00992	-1.1488	9	.	.	.	-19.0378	16.1178	0.81321	0.0:1.0:0.0:0.0	.	902;902;902;902	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	I	902	ENSP00000308597:L902I;ENSP00000315914:L902I;ENSP00000410427:L902I	.	L	+	1	0	DLEC1	38114377	0.995000	0.38212	0.889000	0.34880	0.112000	0.19704	1.407000	0.34657	2.414000	0.81942	0.462000	0.41574	CTC		0.597	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		5	51	5	51	---	---	---	---
CCDC36	339834	broad.mit.edu	37	3	49294496	49294496	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:49294496C>A	ENST00000438782.1	+	8	1802	c.1566C>A	c.(1564-1566)ccC>ccA	p.P522P	CCDC36_ENST00000452691.2_Silent_p.P522P|CCDC36_ENST00000296449.5_Silent_p.P522P			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	522										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		CAGTCATGCCCAATAAGACAG	0.582																																						ENST00000438782.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14						c.(1564-1566)ccC>ccA		coiled-coil domain containing 36							82.0	87.0	85.0					3																	49294496		2203	4300	6503	SO:0001819	synonymous_variant	339834							g.chr3:49294496C>A	AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"""cancer/testis antigen 74"""						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.1566C>A	3.37:g.49294496C>A			Somatic				CCDC36_ENST00000296449.5_Silent_p.P522P|CCDC36_ENST00000452691.2_Silent_p.P522P	p.P522P			WXS	Illumina GAIIx	Phase_I	Q8IYA8	CCD36_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)	8	1802	+			522					C9JJL0|Q05DG9|Q96LP7	Silent	SNP	ENST00000438782.1	37	c.1566C>A	CCDS33755.2																																																																																				0.582	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342332.1	NM_178173		6	148	6	148	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52598192	52598192	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:52598192G>T	ENST00000296302.7	-	23	3750	c.3749C>A	c.(3748-3750)cCa>cAa	p.P1250Q	PBRM1_ENST00000409767.1_Missense_Mutation_p.P1265Q|PBRM1_ENST00000394830.3_Missense_Mutation_p.P1225Q|PBRM1_ENST00000409114.3_Missense_Mutation_p.P1265Q|PBRM1_ENST00000410007.1_Missense_Mutation_p.P1225Q|PBRM1_ENST00000356770.4_Missense_Mutation_p.P1218Q|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000337303.4_Missense_Mutation_p.P1250Q|PBRM1_ENST00000409057.1_Missense_Mutation_p.P1250Q			Q86U86	PB1_HUMAN	polybromo 1	1250	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GTCATTTTCTGGTATTTCAGT	0.408			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(3652-3654)cCa>cAa		polybromo 1							97.0	96.0	96.0					3																	52598192		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52598192G>T	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3749C>A	3.37:g.52598192G>T	ENSP00000296302:p.Pro1250Gln		Somatic				PBRM1_ENST00000409057.1_Missense_Mutation_p.P1250Q|PBRM1_ENST00000296302.7_Missense_Mutation_p.P1250Q|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000410007.1_Missense_Mutation_p.P1225Q|PBRM1_ENST00000337303.4_Missense_Mutation_p.P1250Q|PBRM1_ENST00000409767.1_Missense_Mutation_p.P1265Q|PBRM1_ENST00000394830.3_Missense_Mutation_p.P1225Q|PBRM1_ENST00000409114.3_Missense_Mutation_p.P1265Q	p.P1218Q			WXS	Illumina GAIIx	Phase_I	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	22	3655	-			1250			BAH 2.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.3653C>A		.	.	.	.	.	.	.	.	.	.	G	21.6	4.171443	0.78452	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	T;T;T;T;T;T;T;T;T	0.36878	1.38;1.23;1.42;1.38;1.39;1.24;1.85;1.38;1.39	5.43	5.43	0.79202	Bromo adjacent homology (BAH) domain (3);	0.236008	0.43416	D	0.000573	T	0.48040	0.1478	L	0.54323	1.7	0.38649	D	0.951802	P;P;P;B;P;P;P;P	0.44006	0.789;0.741;0.631;0.126;0.507;0.824;0.631;0.741	P;B;B;B;P;P;B;B	0.49421	0.61;0.377;0.259;0.191;0.447;0.588;0.259;0.377	T	0.47484	-0.9114	10	0.46703	T	0.11	-0.7183	19.2735	0.94021	0.0:0.0:1.0:0.0	.	1225;1225;1250;1265;1265;1250;1218;1250	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	Q	1218;1225;1250;1250;1250;1225;1265;1265;1249	ENSP00000349213:P1218Q;ENSP00000378307:P1225Q;ENSP00000296302:P1250Q;ENSP00000338302:P1250Q;ENSP00000386593:P1250Q;ENSP00000386529:P1225Q;ENSP00000386643:P1265Q;ENSP00000386601:P1265Q;ENSP00000387775:P1249Q	ENSP00000296302:P1250Q	P	-	2	0	PBRM1	52573232	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.968000	0.87980	2.549000	0.85964	0.655000	0.94253	CCA		0.408	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		5	98	5	98	---	---	---	---
MAGI1	9223	broad.mit.edu	37	3	65342651	65342651	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:65342651C>A	ENST00000402939.2	-	23	3790	c.3791G>T	c.(3790-3792)aGg>aTg	p.R1264M	RP11-88H12.2_ENST00000602316.1_RNA|MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1293					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTTCGGATCCCTTGCGTGTGC	0.592																																						ENST00000402939.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(3790-3792)aGg>aTg		membrane associated guanylate kinase, WW and PDZ domain containing 1							153.0	143.0	147.0					3																	65342651		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65342651C>A	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.3791G>T	3.37:g.65342651C>A	ENSP00000385450:p.Arg1264Met		Somatic				MAGI1_ENST00000330909.8_3'UTR	p.R1264M	NM_001033057.1	NP_001028229.1	WXS	Illumina GAIIx	Phase_I	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	23	3790	-		Lung NSC(201;0.0016)	1293					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000402939.2	37	c.3791G>T	CCDS33780.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426610	0.43020	.	.	ENSG00000151276	ENST00000402939	T	0.14516	2.5	4.6	-4.37	0.03633	.	0.602490	0.16824	N	0.198027	T	0.09202	0.0227	N	0.24115	0.695	0.80722	D	1	P	0.45827	0.867	P	0.44946	0.465	T	0.08953	-1.0697	10	0.52906	T	0.07	-2.6488	8.9972	0.36059	0.0:0.2196:0.1093:0.6711	.	1264	Q96QZ7-2	.	M	1264	ENSP00000385450:R1264M	ENSP00000385450:R1264M	R	-	2	0	MAGI1	65317691	0.873000	0.30073	0.346000	0.25655	0.710000	0.40934	0.228000	0.17814	-1.175000	0.02751	-0.339000	0.08088	AGG		0.592	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349126.1	NM_004742		6	131	6	131	---	---	---	---
SLC15A2	6565	broad.mit.edu	37	3	121641932	121641932	+	Missense_Mutation	SNP	C	C	A	rs367630543		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:121641932C>A	ENST00000489711.1	+	10	1301	c.913C>A	c.(913-915)Ctt>Att	p.L305I	SLC15A2_ENST00000295605.2_Missense_Mutation_p.L274I|AC072031.1_ENST00000581491.1_RNA	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	305					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)	p.L305I(1)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GGTACTATTCCTTTATATCCC	0.458																																						ENST00000489711.1																			1	Substitution - Missense(1)	p.L305I(1)	lung(1)	NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36						c.(913-915)Ctt>Att		solute carrier family 15 (oligopeptide transporter), member 2	Cefadroxil(DB01140)						171.0	176.0	174.0					3																	121641932		2203	4300	6503	SO:0001583	missense	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121641932C>A	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.913C>A	3.37:g.121641932C>A	ENSP00000417085:p.Leu305Ile		Somatic				SLC15A2_ENST00000295605.2_Missense_Mutation_p.L274I	p.L305I	NM_021082.3	NP_066568.3	WXS	Illumina GAIIx	Phase_I	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	10	1301	+			305					A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	37	c.913C>A	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	C	34	5.373029	0.95923	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	T;T	0.60299	0.2;0.2	5.86	5.86	0.93980	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.71476	0.3344	L	0.46819	1.47	0.80722	D	1	D;D	0.89917	1.0;0.975	D;D	0.97110	1.0;0.951	T	0.71024	-0.4712	10	0.56958	D	0.05	-14.4284	17.6924	0.88272	0.0:1.0:0.0:0.0	.	274;305	B4E2A7;Q16348	.;S15A2_HUMAN	I	305;267;274	ENSP00000417085:L305I;ENSP00000295605:L274I	ENSP00000295605:L274I	L	+	1	0	SLC15A2	123124622	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.278000	0.78587	2.781000	0.95711	0.650000	0.86243	CTT		0.458	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		7	215	7	215	---	---	---	---
ZNF148	7707	broad.mit.edu	37	3	124951822	124951822	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:124951822G>T	ENST00000360647.4	-	9	2233	c.1748C>A	c.(1747-1749)cCg>cAg	p.P583Q	ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.P583Q|ZNF148_ENST00000484491.1_Missense_Mutation_p.P583Q|ZNF148_ENST00000485866.1_Missense_Mutation_p.P583Q|ZNF148_ENST00000468369.1_Intron|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000497929.1_5'UTR	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	583					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						ATTCTCTGACGGGGTGACCTC	0.438																																						ENST00000360647.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(1747-1749)cCg>cAg		zinc finger protein 148							105.0	100.0	102.0					3																	124951822		2203	4299	6502	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124951822G>T	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.1748C>A	3.37:g.124951822G>T	ENSP00000353863:p.Pro583Gln		Somatic				SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Missense_Mutation_p.P583Q|ZNF148_ENST00000484491.1_Missense_Mutation_p.P583Q|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.P583Q|ZNF148_ENST00000468369.1_Intron	p.P583Q	NM_021964.2	NP_068799.2	WXS	Illumina GAIIx	Phase_I	Q9UQR1	ZN148_HUMAN			9	2233	-			583					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.1748C>A	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.624605	0.00117	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.67	0.689	0.18033	.	0.245040	0.42172	N	0.000756	T	0.17195	0.0413	N	0.04355	-0.22	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34054	-0.9844	10	0.02654	T	1	-0.8261	13.7778	0.63064	0.0:0.0:0.5102:0.4898	.	583	Q9UQR1	ZN148_HUMAN	Q	583	ENSP00000353863:P583Q;ENSP00000420335:P583Q;ENSP00000419322:P583Q;ENSP00000420448:P583Q	ENSP00000353863:P583Q	P	-	2	0	ZNF148	126434512	0.996000	0.38824	0.681000	0.30009	0.952000	0.60782	2.156000	0.42310	-0.020000	0.14032	-0.266000	0.10368	CCG		0.438	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		6	126	6	126	---	---	---	---
ZIC4	84107	broad.mit.edu	37	3	147108857	147108857	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:147108857C>A	ENST00000383075.3	-	4	1377	c.865G>T	c.(865-867)Ggg>Tgg	p.G289W	ZIC4_ENST00000425731.3_Missense_Mutation_p.G327W|ZIC4_ENST00000484399.1_Missense_Mutation_p.G289W|ZIC4_ENST00000525172.2_Missense_Mutation_p.G339W|ZIC4_ENST00000491672.1_Missense_Mutation_p.G83W|ZIC4_ENST00000473123.1_Missense_Mutation_p.G289W|ZIC4_ENST00000472749.2_5'UTR	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	289						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G289W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGCGAGCGCCCGTGCACCTTC	0.662																																						ENST00000383075.3																			1	Substitution - Missense(1)	p.G289W(1)	lung(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(865-867)Ggg>Tgg		Zic family member 4							32.0	40.0	38.0					3																	147108857		2193	4293	6486	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147108857C>A	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.865G>T	3.37:g.147108857C>A	ENSP00000372553:p.Gly289Trp		Somatic				ZIC4_ENST00000425731.3_Missense_Mutation_p.G327W|ZIC4_ENST00000525172.2_Missense_Mutation_p.G339W|ZIC4_ENST00000484399.1_Missense_Mutation_p.G289W|ZIC4_ENST00000473123.1_Missense_Mutation_p.G289W|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000491672.1_Missense_Mutation_p.G83W	p.G289W	NM_032153.5	NP_115529.2	WXS	Illumina GAIIx	Phase_I	Q8N9L1	ZIC4_HUMAN			4	1377	-			289					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.865G>T	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156573	0.78114	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.35789	2.44;2.44;2.44;2.44;2.44;1.29	5.05	4.08	0.47627	Zinc finger, C2H2 (1);	0.171210	0.28659	N	0.014572	T	0.47764	0.1463	L	0.47716	1.5	0.39814	D	0.972741	D;D	0.71674	0.998;0.998	D;D	0.64506	0.925;0.926	T	0.60454	-0.7260	9	0.66056	D	0.02	.	10.3599	0.43987	0.4522:0.5478:0.0:0.0	.	339;289	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	W	289;327;339;289;289;83	ENSP00000372553:G289W;ENSP00000397695:G327W;ENSP00000435509:G339W;ENSP00000417855:G289W;ENSP00000420775:G289W;ENSP00000418277:G83W	ENSP00000372553:G289W	G	-	1	0	ZIC4	148591547	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.495000	0.60353	2.337000	0.79520	0.462000	0.41574	GGG		0.662	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			4	72	4	72	---	---	---	---
MRPL47	57129	broad.mit.edu	37	3	179311582	179311582	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr3:179311582C>A	ENST00000476781.1	-	5	533	c.504G>T	c.(502-504)tgG>tgT	p.W168C	MRPL47_ENST00000259038.2_Missense_Mutation_p.W148C|MRPL47_ENST00000392659.2_Missense_Mutation_p.W58C	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	168					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TGTCTCTTCTCCAAGCACCAG	0.438																																						ENST00000476781.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11						c.(502-504)tgG>tgT		mitochondrial ribosomal protein L47							140.0	142.0	142.0					3																	179311582		2203	4300	6503	SO:0001583	missense	57129				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr3:179311582C>A	AF285120	CCDS3232.1, CCDS3233.1	3q26.33	2012-11-14			ENSG00000136522	ENSG00000136522		"""Mitochondrial ribosomal proteins / large subunits"""	16652	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma metastasis-related 1"""	611852				11551941	Standard	NM_177988		Approved	CGI-204, NCM1	uc003fjz.3	Q9HD33	OTTHUMG00000157784	ENST00000476781.1:c.504G>T	3.37:g.179311582C>A	ENSP00000417602:p.Trp168Cys		Somatic				MRPL47_ENST00000259038.2_Missense_Mutation_p.W148C|MRPL47_ENST00000392659.2_Missense_Mutation_p.W58C	p.W168C	NM_020409.2	NP_065142.2	WXS	Illumina GAIIx	Phase_I	Q9HD33	RM47_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		5	533	-	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		168					Q6XRG1|Q8N5D1	Missense_Mutation	SNP	ENST00000476781.1	37	c.504G>T	CCDS3232.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964114	0.74131	.	.	ENSG00000136522	ENST00000476781;ENST00000259038;ENST00000392659	T;T;T	0.46063	1.45;1.5;0.88	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.67804	0.2932	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.67650	-0.5616	10	0.62326	D	0.03	-12.2478	20.3812	0.98933	0.0:1.0:0.0:0.0	.	148;168	Q9HD33-2;Q9HD33	.;RM47_HUMAN	C	168;148;58	ENSP00000417602:W168C;ENSP00000259038:W148C;ENSP00000376427:W58C	ENSP00000259038:W148C	W	-	3	0	MRPL47	180794276	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.093000	0.71422	2.821000	0.97095	0.650000	0.86243	TGG		0.438	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349623.1	NM_020409		6	169	6	169	---	---	---	---
LNX1	84708	broad.mit.edu	37	4	54362300	54362300	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:54362300C>A	ENST00000263925.7	-	6	1554	c.1240G>T	c.(1240-1242)Ggc>Tgc	p.G414C	FIP1L1_ENST00000507166.1_Intron|LNX1-AS1_ENST00000502373.1_RNA|LNX1_ENST00000306888.2_Missense_Mutation_p.G318C	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	414	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GCCACACCGCCATCCAGCACA	0.502																																						ENST00000306888.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32						c.(952-954)Ggc>Tgc		ligand of numb-protein X 1, E3 ubiquitin protein ligase							161.0	137.0	145.0					4																	54362300		2203	4300	6503	SO:0001583	missense	84708					cytoplasm	zinc ion binding	g.chr4:54362300C>A	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.1240G>T	4.37:g.54362300C>A	ENSP00000263925:p.Gly414Cys		Somatic				LNX1_ENST00000263925.7_Missense_Mutation_p.G414C|FIP1L1_ENST00000507166.1_Intron	p.G318C	NM_032622.2	NP_116011.2	WXS	Illumina GAIIx	Phase_I	Q8TBB1	LNX1_HUMAN	GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)		5	1203	-	all_neural(26;0.153)		414			PDZ 1.		Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	c.952G>T	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298866	0.60195	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	T;T	0.43294	0.95;0.95	5.09	5.09	0.68999	PDZ/DHR/GLGF (4);	0.047477	0.85682	D	0.000000	T	0.78767	0.4335	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86994	0.2112	10	0.87932	D	0	.	18.685	0.91560	0.0:1.0:0.0:0.0	.	414;318	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	C	318;252;414	ENSP00000302879:G318C;ENSP00000263925:G414C	ENSP00000263925:G414C	G	-	1	0	LNX1	54057057	1.000000	0.71417	0.134000	0.22075	0.211000	0.24417	5.620000	0.67736	2.651000	0.90000	0.491000	0.48974	GGC		0.502	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			6	182	6	182	---	---	---	---
NOA1	84273	broad.mit.edu	37	4	57829644	57829644	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:57829644C>A	ENST00000264230.4	-	7	3306	c.2069G>T	c.(2068-2070)aGg>aTg	p.R690M	RP11-738E22.3_ENST00000602820.1_lincRNA	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	690					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										TTTCTTCTTCCTCACGTTGTA	0.373																																						ENST00000264230.4																			0											c.(2068-2070)aGg>aTg		nitric oxide associated 1							168.0	165.0	166.0					4																	57829644		2203	4300	6503	SO:0001583	missense	84273						GTP binding	g.chr4:57829644C>A	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.2069G>T	4.37:g.57829644C>A	ENSP00000264230:p.Arg690Met		Somatic					p.R690M	NM_032313.2	NP_115689.1	WXS	Illumina GAIIx	Phase_I	Q8NC60	CD014_HUMAN			7	3306	-			690					Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	ENST00000264230.4	37	c.2069G>T	CCDS3510.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259820	0.23051	.	.	ENSG00000084092	ENST00000264230	T	0.35236	1.32	5.41	-6.45	0.01914	.	0.868445	0.10122	N	0.713297	T	0.25938	0.0632	L	0.34521	1.04	0.09310	N	0.999999	P	0.38642	0.641	B	0.38500	0.275	T	0.32188	-0.9916	10	0.87932	D	0	.	12.7585	0.57350	0.0:0.4484:0.0:0.5516	.	690	Q8NC60	CD014_HUMAN	M	690	ENSP00000264230:R690M	ENSP00000264230:R690M	R	-	2	0	C4orf14	57524401	0.010000	0.17322	0.035000	0.18076	0.024000	0.10985	-0.189000	0.09629	-1.136000	0.02892	-1.202000	0.01658	AGG		0.373	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		7	207	7	207	---	---	---	---
HELQ	113510	broad.mit.edu	37	4	84374734	84374734	+	Missense_Mutation	SNP	C	C	A	rs188988182		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:84374734C>A	ENST00000295488.3	-	2	824	c.662G>T	c.(661-663)aGg>aTg	p.R221M	MRPS18C_ENST00000507349.1_5'Flank|MRPS18C_ENST00000507019.1_5'Flank|HELQ_ENST00000440639.2_5'Flank|HELQ_ENST00000510985.1_Missense_Mutation_p.R221M|MRPS18C_ENST00000295491.4_5'Flank	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	221					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CTTCCAATCCCTTTCTTTCAT	0.408								Other identified genes with known or suspected DNA repair function																														ENST00000295488.3																			0				breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						c.(661-663)aGg>aTg	Other identified genes with known or suspected DNA repair function	helicase, POLQ-like							115.0	118.0	117.0					4																	84374734		2203	4300	6503	SO:0001583	missense	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84374734C>A	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.662G>T	4.37:g.84374734C>A	ENSP00000295488:p.Arg221Met		Somatic				HELQ_ENST00000510985.1_Missense_Mutation_p.R221M	p.R221M	NM_133636.2	NP_598375	WXS	Illumina GAIIx	Phase_I	Q8TDG4	HELQ_HUMAN			2	824	-			221					Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	c.662G>T	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807192	0.31961	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.68025	0.16;-0.3	5.61	-1.42	0.08913	.	0.698160	0.13897	N	0.355220	T	0.56949	0.2020	L	0.40543	1.245	0.09310	N	1	B;P;B;B	0.51653	0.049;0.947;0.4;0.022	B;P;B;B	0.49999	0.01;0.628;0.121;0.01	T	0.49934	-0.8886	10	0.45353	T	0.12	-45.4395	3.1962	0.06634	0.1009:0.4393:0.0984:0.3613	.	221;221;184;221	E3W980;E3W982;Q8TDG4-2;Q8TDG4	.;.;.;HELQ_HUMAN	M	221	ENSP00000295488:R221M;ENSP00000424539:R221M	ENSP00000295488:R221M	R	-	2	0	HELQ	84593758	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.865000	0.04250	-0.422000	0.07405	-0.136000	0.14681	AGG		0.408	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		5	99	5	99	---	---	---	---
TBCK	93627	broad.mit.edu	37	4	107229970	107229970	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:107229970G>T	ENST00000273980.5	-	3	595	c.148C>A	c.(148-150)Cat>Aat	p.H50N	TBCK_ENST00000432496.2_Missense_Mutation_p.H50N|TBCK_ENST00000361687.4_Missense_Mutation_p.H50N|TBCK_ENST00000394706.3_Missense_Mutation_p.H50N|TBCK_ENST00000394708.2_Missense_Mutation_p.H50N					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						AGTCTGGGATGGGTGATGGTT	0.398																																						ENST00000273980.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(148-150)Cat>Aat		TBC1 domain containing kinase							142.0	150.0	147.0					4																	107229970		2203	4300	6503	SO:0001583	missense	93627					intracellular	Rab GTPase activator activity	g.chr4:107229970G>T		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.148C>A	4.37:g.107229970G>T	ENSP00000273980:p.His50Asn		Somatic				TBCK_ENST00000394706.3_Missense_Mutation_p.H50N|TBCK_ENST00000394708.2_Missense_Mutation_p.H50N|TBCK_ENST00000361687.4_Missense_Mutation_p.H50N|TBCK_ENST00000432496.2_Missense_Mutation_p.H50N	p.H50N			WXS	Illumina GAIIx	Phase_I	Q8TEA7	TBCK_HUMAN			3	595	-						Protein kinase.			Missense_Mutation	SNP	ENST00000273980.5	37	c.148C>A	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355558	0.82243	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708;ENST00000509532;ENST00000509862;ENST00000507696	T;T;T;T;T;T;T;T	0.78481	-1.18;-1.18;2.04;-1.18;-1.18;-1.18;-1.18;2.9	5.39	5.39	0.77823	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87970	0.6312	M	0.70903	2.155	0.80722	D	1	D;D;B	0.76494	0.965;0.999;0.281	D;D;B	0.87578	0.919;0.998;0.227	D	0.88473	0.3063	10	0.62326	D	0.03	.	19.1484	0.93477	0.0:0.0:1.0:0.0	.	50;50;50	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	N	50	ENSP00000273980:H50N;ENSP00000405847:H50N;ENSP00000355338:H50N;ENSP00000378196:H50N;ENSP00000378198:H50N;ENSP00000420985:H50N;ENSP00000425197:H50N;ENSP00000423637:H50N	ENSP00000273980:H50N	H	-	1	0	TBCK	107449419	1.000000	0.71417	0.826000	0.32828	0.938000	0.57974	9.869000	0.99810	2.549000	0.85964	0.591000	0.81541	CAT		0.398	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		6	115	6	115	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126237601	126237601	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:126237601C>A	ENST00000394329.3	+	1	48	c.35C>A	c.(34-36)cCg>cAg	p.P12Q		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	12					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTGGCCGCCCGTGGCTCCCG	0.557											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(34-36)cCg>cAg		FAT atypical cadherin 4							111.0	118.0	116.0					4																	126237601		1917	4132	6049	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126237601C>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.35C>A	4.37:g.126237601C>A	ENSP00000377862:p.Pro12Gln		Somatic	OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.P12Q	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	Q6V0I7	FAT4_HUMAN			1	48	+			12					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.35C>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	7.612	0.675031	0.14841	.	.	ENSG00000196159	ENST00000394329	T	0.72835	-0.69	4.75	-0.574	0.11738	.	.	.	.	.	T	0.47266	0.1436	N	0.22421	0.69	0.09310	N	0.999998	B	0.20671	0.047	B	0.12837	0.008	T	0.22836	-1.0205	9	0.14656	T	0.56	.	3.7206	0.08454	0.1096:0.3593:0.3685:0.1626	.	12	Q6V0I7	FAT4_HUMAN	Q	12	ENSP00000377862:P12Q	ENSP00000377862:P12Q	P	+	2	0	FAT4	126457051	0.060000	0.20803	0.711000	0.30485	0.402000	0.30811	0.186000	0.16978	-0.043000	0.13513	-0.259000	0.10710	CCG		0.557	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		5	222	5	222	---	---	---	---
INTU	27152	broad.mit.edu	37	4	128635247	128635247	+	Splice_Site	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:128635247G>T	ENST00000335251.6	+	15	2819	c.2716G>T	c.(2716-2718)Ggg>Tgg	p.G906W		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	906					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CTGGGTAGTAGGGTAAGTGAG	0.338																																						ENST00000335251.6																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(2716-2718)Ggg>Tgg		inturned planar cell polarity protein							90.0	88.0	88.0					4																	128635247		2203	4300	6503	SO:0001630	splice_region_variant	27152							g.chr4:128635247G>T	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.2717+1G>T	4.37:g.128635247G>T			Somatic					p.G906W	NM_015693.3	NP_056508.2	WXS	Illumina GAIIx	Phase_I	Q9ULD6	PDZD6_HUMAN			15	2819	+								A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Splice_Site	SNP	ENST00000335251.6	37	c.2716G>T	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253471	0.80135	.	.	ENSG00000164066	ENST00000335251	.	.	.	4.2	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.80654	0.4664	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84783	0.0774	9	0.87932	D	0	-8.8681	16.755	0.85497	0.0:0.0:1.0:0.0	.	906	Q9ULD6	PDZD6_HUMAN	W	906	.	ENSP00000334003:G906W	G	+	1	0	INTU	128854697	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.779000	0.91792	2.156000	0.67533	0.650000	0.86243	GGG		0.338	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707	Missense_Mutation	5	62	5	62	---	---	---	---
JADE1	79960	broad.mit.edu	37	4	129778549	129778549	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:129778549C>A	ENST00000226319.6	+	8	1201	c.921C>A	c.(919-921)ccC>ccA	p.P307P	PHF17_ENST00000452328.2_Silent_p.P295P|PHF17_ENST00000511647.1_Silent_p.P307P|PHF17_ENST00000512960.1_Silent_p.P307P|PHF17_ENST00000413543.2_Silent_p.P307P	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CACACATTCCCAGCAGCCGGT	0.522																																						ENST00000226319.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(919-921)ccC>ccA									149.0	154.0	152.0					4																	129778549		2203	4300	6503	SO:0001819	synonymous_variant	79960				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129778549C>A																												ENST00000226319.6:c.921C>A	4.37:g.129778549C>A			Somatic				PHF17_ENST00000413543.2_Silent_p.P307P|PHF17_ENST00000512960.1_Silent_p.P307P|PHF17_ENST00000452328.2_Silent_p.P295P|PHF17_ENST00000511647.1_Silent_p.P307P	p.P307P	NM_199320.2	NP_955352.1	WXS	Illumina GAIIx	Phase_I	Q6IE81	JADE1_HUMAN			8	1201	+			307						Silent	SNP	ENST00000226319.6	37	c.921C>A	CCDS34062.1																																																																																				0.522	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			8	262	8	262	---	---	---	---
SCLT1	132320	broad.mit.edu	37	4	129809839	129809839	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:129809839G>T	ENST00000281142.5	-	20	2502	c.1999C>A	c.(1999-2001)Cag>Aag	p.Q667K	SCLT1_ENST00000439369.2_Missense_Mutation_p.Q154K|SCLT1_ENST00000434680.1_Missense_Mutation_p.Q286K|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Missense_Mutation_p.Q263K	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	667					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CCTACCTGCTGGGAAGCTGAA	0.383																																						ENST00000281142.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						c.(1999-2001)Cag>Aag		sodium channel and clathrin linker 1							132.0	122.0	125.0					4																	129809839		2203	4300	6503	SO:0001583	missense	132320					centrosome		g.chr4:129809839G>T	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1999C>A	4.37:g.129809839G>T	ENSP00000281142:p.Gln667Lys		Somatic				SCLT1_ENST00000503215.1_Missense_Mutation_p.Q263K|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Missense_Mutation_p.Q286K|SCLT1_ENST00000439369.2_Missense_Mutation_p.Q154K	p.Q667K	NM_144643.2	NP_653244.2	WXS	Illumina GAIIx	Phase_I	Q96NL6	SCLT1_HUMAN			20	2502	-			667					A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	c.1999C>A	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	G	8.114	0.779385	0.16120	.	.	ENSG00000151466	ENST00000281142;ENST00000434680;ENST00000439369;ENST00000503215	T;T;T	0.49720	0.77;3.01;3.01	4.95	4.95	0.65309	.	0.124595	0.56097	D	0.000036	T	0.36936	0.0985	N	0.17082	0.46	0.23585	N	0.997359	P;P;P;B	0.40731	0.728;0.728;0.728;0.341	B;B;B;B	0.43445	0.346;0.346;0.42;0.167	T	0.23440	-1.0188	9	.	.	.	-2.5969	15.2488	0.73526	0.0:0.0:1.0:0.0	.	154;286;667;263	Q96NL6-3;Q96NL6-2;Q96NL6;D6RBP0	.;.;SCLT1_HUMAN;.	K	667;286;154;263	ENSP00000281142:Q667K;ENSP00000401539:Q286K;ENSP00000424029:Q263K	.	Q	-	1	0	SCLT1	130029289	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.134000	0.64770	2.560000	0.86352	0.650000	0.86243	CAG		0.383	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		6	108	6	108	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177069298	177069298	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:177069298G>T	ENST00000280190.4	+	14	1937	c.1781G>T	c.(1780-1782)tGg>tTg	p.W594L	WDR17_ENST00000393643.2_Missense_Mutation_p.W570L|WDR17_ENST00000507824.2_Missense_Mutation_p.W577L|WDR17_ENST00000508596.1_Missense_Mutation_p.W570L			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	594										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GTTCGAATCTGGGATTATACT	0.328																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(1708-1710)tGg>tTg		WD repeat domain 17							155.0	152.0	153.0					4																	177069298		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177069298G>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1781G>T	4.37:g.177069298G>T	ENSP00000280190:p.Trp594Leu		Somatic				WDR17_ENST00000508596.1_Missense_Mutation_p.W570L|WDR17_ENST00000507824.2_Missense_Mutation_p.W577L|WDR17_ENST00000280190.4_Missense_Mutation_p.W594L	p.W570L	NM_170710.4	NP_733828.2	WXS	Illumina GAIIx	Phase_I	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	13	1961	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	594					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.1709G>T	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915960	0.92178	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	D;D;D	0.83506	-1.73;-1.73;-1.73	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.94331	0.8178	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.95328	0.8427	10	0.87932	D	0	-8.4954	19.9915	0.97366	0.0:0.0:1.0:0.0	.	570;594	E7EQX0;Q8IZU2	.;WDR17_HUMAN	L	570;570;594;577	ENSP00000422763:W570L;ENSP00000377258:W570L;ENSP00000280190:W594L	ENSP00000280190:W594L	W	+	2	0	WDR17	177306292	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.085000	0.94083	2.723000	0.93209	0.655000	0.94253	TGG		0.328	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			5	126	5	126	---	---	---	---
NEIL3	55247	broad.mit.edu	37	4	178257465	178257465	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:178257465C>A	ENST00000264596.3	+	4	735	c.617C>A	c.(616-618)cCa>cAa	p.P206Q		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	206					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		GGTCTCCACCCAGCTGTTAAA	0.403								Base excision repair (BER), DNA glycosylases																														ENST00000264596.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(616-618)cCa>cAa	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 3 (E. coli)							98.0	101.0	100.0					4																	178257465		2203	4300	6503	SO:0001583	missense	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178257465C>A	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.617C>A	4.37:g.178257465C>A	ENSP00000264596:p.Pro206Gln		Somatic					p.P206Q	NM_018248.2	NP_060718	WXS	Illumina GAIIx	Phase_I	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	4	735	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	206					Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	c.617C>A	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914857	0.72983	.	.	ENSG00000109674	ENST00000264596	T	0.55760	0.5	4.93	4.93	0.64822	DNA glycosylase/AP lyase, H2TH DNA-binding (1);Ribosomal protein S13-like, H2TH (1);	0.000000	0.85682	D	0.000000	D	0.82664	0.5086	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88810	0.3291	10	0.87932	D	0	-13.6966	17.6857	0.88255	0.0:1.0:0.0:0.0	.	206	Q8TAT5	NEIL3_HUMAN	Q	206	ENSP00000264596:P206Q	ENSP00000264596:P206Q	P	+	2	0	NEIL3	178494459	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.088000	0.76901	2.713000	0.92767	0.655000	0.94253	CCA		0.403	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		5	89	5	89	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183522162	183522162	+	Silent	SNP	C	C	A	rs575697874		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:183522162C>A	ENST00000511685.1	+	4	720	c.597C>A	c.(595-597)tcC>tcA	p.S199S	TENM3_ENST00000406950.2_Silent_p.S199S			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	199	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ATCATCCATCCATCACTTCTC	0.552																																						ENST00000511685.1																			0											c.(595-597)tcC>tcA		teneurin transmembrane protein 3							139.0	149.0	146.0					4																	183522162		2010	4185	6195	SO:0001819	synonymous_variant	55714							g.chr4:183522162C>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.597C>A	4.37:g.183522162C>A			Somatic				TENM3_ENST00000406950.2_Silent_p.S199S	p.S199S			WXS	Illumina GAIIx	Phase_I					4	720	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.597C>A	CCDS47165.1																																																																																				0.552	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			7	235	7	235	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183714859	183714859	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:183714859C>A	ENST00000511685.1	+	26	7157	c.7034C>A	c.(7033-7035)cCa>cAa	p.P2345Q	TENM3_ENST00000406950.2_Missense_Mutation_p.P2345Q			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2345					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CTGTATGACCCACTCACCAAA	0.398																																						ENST00000511685.1																			0											c.(7033-7035)cCa>cAa		teneurin transmembrane protein 3							120.0	119.0	120.0					4																	183714859		1863	4089	5952	SO:0001583	missense	55714							g.chr4:183714859C>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.7034C>A	4.37:g.183714859C>A	ENSP00000424226:p.Pro2345Gln		Somatic				TENM3_ENST00000406950.2_Missense_Mutation_p.P2345Q	p.P2345Q			WXS	Illumina GAIIx	Phase_I					26	7157	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.7034C>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155665	0.78114	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86865	-2.18;-2.18	5.17	5.17	0.71159	Rhs repeat-associated core (1);	.	.	.	.	D	0.91805	0.7407	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.90336	0.4355	9	0.36615	T	0.2	.	18.8759	0.92334	0.0:1.0:0.0:0.0	.	2345	Q9P273	TEN3_HUMAN	Q	2345	ENSP00000424226:P2345Q;ENSP00000385276:P2345Q	ENSP00000385276:P2345Q	P	+	2	0	ODZ3	183951853	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.625000	0.83145	2.683000	0.91414	0.655000	0.94253	CCA		0.398	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			6	102	6	102	---	---	---	---
CDH6	1004	broad.mit.edu	37	5	31323130	31323130	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:31323130C>A	ENST00000265071.2	+	12	2353	c.2088C>A	c.(2086-2088)gcC>gcA	p.A696A		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	696					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGCCCGAAGCCCTTTTCCTAC	0.522																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(2086-2088)gcC>gcA		cadherin 6, type 2, K-cadherin (fetal kidney)							87.0	81.0	83.0					5																	31323130		2203	4300	6503	SO:0001819	synonymous_variant	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31323130C>A	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.2088C>A	5.37:g.31323130C>A			Somatic					p.A696A	NM_004932.3	NP_004923.1	WXS	Illumina GAIIx	Phase_I	P55285	CADH6_HUMAN			12	2353	+			696					A8K5H5|Q9BWS0	Silent	SNP	ENST00000265071.2	37	c.2088C>A	CCDS3894.1																																																																																				0.522	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		9	60	9	60	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31983622	31983622	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:31983622C>A	ENST00000438447.1	+	3	1226	c.838C>A	c.(838-840)Cat>Aat	p.H280N	PDZD2_ENST00000282493.3_Missense_Mutation_p.H280N			O15018	PDZD2_HUMAN	PDZ domain containing 2	280					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGCTGGACCCCATCTAGAGAG	0.522																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(838-840)Cat>Aat		PDZ domain containing 2							71.0	76.0	74.0					5																	31983622		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31983622C>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.838C>A	5.37:g.31983622C>A	ENSP00000402033:p.His280Asn		Somatic				PDZD2_ENST00000282493.3_Missense_Mutation_p.H280N	p.H280N			WXS	Illumina GAIIx	Phase_I	O15018	PDZD2_HUMAN			3	1226	+			280					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.838C>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.373620	0.42105	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06933	3.24;3.24	5.78	3.86	0.44501	.	0.445026	0.19250	N	0.118942	T	0.06508	0.0167	L	0.27053	0.805	0.20563	N	0.999887	B;B	0.12630	0.001;0.006	B;B	0.11329	0.001;0.006	T	0.32981	-0.9886	10	0.26408	T	0.33	.	10.6804	0.45811	0.3483:0.6517:0.0:0.0	.	106;280	B4E3P2;O15018	.;PDZD2_HUMAN	N	280	ENSP00000402033:H280N;ENSP00000282493:H280N	ENSP00000282493:H280N	H	+	1	0	PDZD2	32019379	0.364000	0.24997	0.587000	0.28692	0.978000	0.69477	1.967000	0.40491	1.403000	0.46800	0.650000	0.86243	CAT		0.522	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			5	125	5	125	---	---	---	---
HMGCS1	3157	broad.mit.edu	37	5	43294964	43294964	+	Splice_Site	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:43294964C>A	ENST00000325110.6	-	7	1112		c.e7-1		HMGCS1_ENST00000433297.2_Splice_Site	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)						brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						TTTAACATCCCTGAAAGATTT	0.323																																						ENST00000325110.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						c.e7-1		3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)							111.0	109.0	110.0					5																	43294964		2203	4299	6502	SO:0001630	splice_region_variant	3157				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity	g.chr5:43294964C>A		CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"""3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"""	142940	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"""	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.906-1G>T	5.37:g.43294964C>A			Somatic				HMGCS1_ENST00000433297.2_Splice_Site		NM_001098272.2	NP_001091742.1	WXS	Illumina GAIIx	Phase_I	Q01581	HMCS1_HUMAN			7	1112	-								B2RDL8	Splice_Site	SNP	ENST00000325110.6	37		CCDS34154.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019748	0.75275	.	.	ENSG00000112972	ENST00000325110;ENST00000433297;ENST00000545275	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.973	0.97292	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HMGCS1	43330721	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.487000	0.81328	2.725000	0.93324	0.460000	0.39030	.		0.323	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368022.1		Intron	7	87	7	87	---	---	---	---
POC5	134359	broad.mit.edu	37	5	74970301	74970301	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:74970301G>T	ENST00000428202.2	-	12	1876	c.1687C>A	c.(1687-1689)Cag>Aag	p.Q563K	POC5_ENST00000380475.2_Missense_Mutation_p.Q387K|POC5_ENST00000446329.2_Missense_Mutation_p.Q538K|POC5_ENST00000510798.1_Missense_Mutation_p.Q387K|POC5_ENST00000514838.2_Missense_Mutation_p.Q535K	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	563					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GTGAGAGACTGGGTGTGAGCT	0.443																																						ENST00000428202.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1687-1689)Cag>Aag		POC5 centriolar protein							228.0	224.0	225.0					5																	74970301		1903	4133	6036	SO:0001583	missense	134359				cell cycle	centriole		g.chr5:74970301G>T	AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 37"", ""POC5 centriolar protein homolog (Chlamydomonas)"""	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.1687C>A	5.37:g.74970301G>T	ENSP00000410216:p.Gln563Lys		Somatic				POC5_ENST00000380475.2_Missense_Mutation_p.Q387K|POC5_ENST00000514838.2_Missense_Mutation_p.Q535K|POC5_ENST00000510798.1_Missense_Mutation_p.Q387K|POC5_ENST00000446329.2_Missense_Mutation_p.Q538K	p.Q563K	NM_001099271.1	NP_001092741.1	WXS	Illumina GAIIx	Phase_I	Q8NA72	POC5_HUMAN			12	1876	-			563					B4DJG7|Q494X7|Q494X9|Q6P085	Missense_Mutation	SNP	ENST00000428202.2	37	c.1687C>A	CCDS47236.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690211	0.48097	.	.	ENSG00000152359	ENST00000428202;ENST00000514838;ENST00000380475;ENST00000510798;ENST00000446329	T;T;T;T;T	0.53423	1.87;1.46;0.62;0.62;1.86	5.68	5.68	0.88126	.	0.951788	0.08909	N	0.876125	T	0.56731	0.2005	M	0.74258	2.255	0.31064	N	0.713828	P;P;P	0.38504	0.634;0.493;0.493	B;B;B	0.36845	0.234;0.157;0.157	T	0.62886	-0.6759	10	0.51188	T	0.08	-0.8884	20.1553	0.98111	0.0:0.0:1.0:0.0	.	387;563;538	Q8NA72-2;Q8NA72;Q8NA72-3	.;POC5_HUMAN;.	K	563;535;387;387;538	ENSP00000410216:Q563K;ENSP00000420971:Q535K;ENSP00000369842:Q387K;ENSP00000426796:Q387K;ENSP00000399481:Q538K	ENSP00000369842:Q387K	Q	-	1	0	POC5	75006057	0.999000	0.42202	0.613000	0.29037	0.097000	0.18754	4.251000	0.58778	2.838000	0.97847	0.591000	0.81541	CAG		0.443	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369124.1	NM_152408		6	243	6	243	---	---	---	---
FBXL17	64839	broad.mit.edu	37	5	107216868	107216868	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:107216868A>G	ENST00000542267.1	-	8	2241	c.1835T>C	c.(1834-1836)aTt>aCt	p.I612T	FBXL17_ENST00000496714.1_Missense_Mutation_p.I214T|FBXL17_ENST00000359660.5_Missense_Mutation_p.I214T	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	612										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GTATCGCCCAATGGCTATCAG	0.453																																						ENST00000542267.1																			0				endometrium(1)|large_intestine(4)|lung(1)	6						c.(1834-1836)aTt>aCt		F-box and leucine-rich repeat protein 17							140.0	129.0	132.0					5																	107216868		2202	4300	6502	SO:0001583	missense	64839							g.chr5:107216868A>G	AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"""F-boxes / Leucine-rich repeats"""	13615	protein-coding gene	gene with protein product		609083	"""F-box only protein 13"""	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1835T>C	5.37:g.107216868A>G	ENSP00000437464:p.Ile612Thr		Somatic				FBXL17_ENST00000496714.1_Missense_Mutation_p.I214T|FBXL17_ENST00000359660.5_Missense_Mutation_p.I214T	p.I612T	NM_001163315.2	NP_001156787.2	WXS	Illumina GAIIx	Phase_I	Q9UF56	FXL17_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)	8	2241	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	612					A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	c.1835T>C	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.905940	0.72868	.	.	ENSG00000145743	ENST00000359660;ENST00000542267;ENST00000496714	T;T;T	0.02787	4.16;4.16;4.16	6.17	4.99	0.66335	.	0.076690	0.56097	D	0.000033	T	0.13114	0.0318	M	0.84156	2.68	0.45161	D	0.998176	D;D	0.57257	0.979;0.975	P;P	0.57960	0.681;0.83	T	0.00268	-1.1862	10	0.87932	D	0	.	12.7809	0.57476	0.8771:0.0:0.0:0.1228	.	612;214	Q9UF56;Q9UF56-2	FXL17_HUMAN;.	T	214;612;214	ENSP00000352683:I214T;ENSP00000437464:I612T;ENSP00000418111:I214T	ENSP00000352683:I214T	I	-	2	0	FBXL17	107244767	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.927000	0.92846	1.105000	0.41606	0.533000	0.62120	ATT		0.453	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				24	103	24	103	---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118483101	118483101	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:118483101G>T	ENST00000311085.8	+	17	2927	c.2847G>T	c.(2845-2847)atG>atT	p.M949I	DMXL1_ENST00000539542.1_Missense_Mutation_p.M949I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	949										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTTCAGAAATGGTTTATAGCC	0.363																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(2845-2847)atG>atT		Dmx-like 1							60.0	64.0	62.0					5																	118483101		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118483101G>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.2847G>T	5.37:g.118483101G>T	ENSP00000309690:p.Met949Ile		Somatic				DMXL1_ENST00000539542.1_Missense_Mutation_p.M949I	p.M949I	NM_005509.4	NP_005500.4	WXS	Illumina GAIIx	Phase_I	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	17	2927	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	949						Missense_Mutation	SNP	ENST00000311085.8	37	c.2847G>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559560	0.27827	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.29397	1.57;1.57	5.82	5.82	0.92795	.	0.190010	0.64402	D	0.000003	T	0.25158	0.0611	L	0.36672	1.1	0.37580	D	0.919772	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.08638	-1.0712	10	0.25751	T	0.34	-6.7308	13.5307	0.61621	0.0:0.0:0.7277:0.2723	.	949;949	F5H269;Q9Y485	.;DMXL1_HUMAN	I	949	ENSP00000309690:M949I;ENSP00000439479:M949I	ENSP00000309690:M949I	M	+	3	0	DMXL1	118511000	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.719000	0.47244	2.743000	0.94032	0.591000	0.81541	ATG		0.363	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		5	62	5	62	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127648440	127648440	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:127648440C>A	ENST00000508053.1	-	43	5739	c.4765G>T	c.(4765-4767)Ggg>Tgg	p.G1589W	FBN2_ENST00000262464.4_Missense_Mutation_p.G1589W			P35556	FBN2_HUMAN	fibrillin 2	1589	TB 6.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GACAGACTCCCATCTCCTCGA	0.557																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(4765-4767)Ggg>Tgg		fibrillin 2							228.0	227.0	227.0					5																	127648440		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127648440C>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4765G>T	5.37:g.127648440C>A	ENSP00000424571:p.Gly1589Trp		Somatic				FBN2_ENST00000262464.4_Missense_Mutation_p.G1589W	p.G1589W			WXS	Illumina GAIIx	Phase_I	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	43	5739	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1589			TB 6.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.4765G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869497	0.72065	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.93189	-3.18;-3.18	5.3	5.3	0.74995	Matrix fibril-associated (2);TGF-beta binding (1);	0.100162	0.45126	D	0.000384	D	0.96632	0.8901	M	0.81942	2.565	0.58432	D	0.999998	D	0.71674	0.998	D	0.65573	0.936	D	0.96766	0.9565	10	0.72032	D	0.01	.	19.1532	0.93499	0.0:1.0:0.0:0.0	.	1589	P35556	FBN2_HUMAN	W	1589	ENSP00000262464:G1589W;ENSP00000424571:G1589W	ENSP00000262464:G1589W	G	-	1	0	FBN2	127676339	0.998000	0.40836	0.975000	0.42487	0.310000	0.27922	5.847000	0.69451	2.769000	0.95229	0.655000	0.94253	GGG		0.557	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		8	302	8	302	---	---	---	---
EGR1	1958	broad.mit.edu	37	5	137803740	137803740	+	Silent	SNP	C	C	A	rs200636536		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:137803740C>A	ENST00000239938.4	+	2	1874	c.1602C>A	c.(1600-1602)acC>acA	p.T534T		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	534					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TGACAGCAACCTTTTCTCCCA	0.512																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(1600-1602)acC>acA		early growth response 1							68.0	71.0	70.0					5																	137803740		2203	4300	6503	SO:0001819	synonymous_variant	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137803740C>A	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1602C>A	5.37:g.137803740C>A			Somatic					p.T534T	NM_001964.2	NP_001955.1	WXS	Illumina GAIIx	Phase_I	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	1874	+			534						Silent	SNP	ENST00000239938.4	37	c.1602C>A	CCDS4206.1																																																																																				0.512	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		6	106	6	106	---	---	---	---
PCDHB10	56126	broad.mit.edu	37	5	140572969	140572969	+	Missense_Mutation	SNP	T	T	G	rs143726447	byFrequency	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:140572969T>G	ENST00000239446.4	+	1	1028	c.844T>G	c.(844-846)Ttt>Gtt	p.F282V		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	282	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTATTCATTTTTTGATGCCTC	0.393																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(844-846)Ttt>Gtt									77.0	82.0	80.0					5																	140572969		2203	4300	6503	SO:0001583	missense	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140572969T>G	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.844T>G	5.37:g.140572969T>G	ENSP00000239446:p.Phe282Val		Somatic					p.F282V	NM_018930.3	NP_061753.1	WXS	Illumina GAIIx	Phase_I	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1028	+			282			Cadherin 3.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.844T>G	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	T	9.101	1.004256	0.19199	.	.	ENSG00000120324	ENST00000239446	T	0.01647	4.71	3.41	3.41	0.39046	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01870	0.0059	N	0.13272	0.32	0.19775	N	0.99996	P	0.41848	0.763	P	0.49421	0.61	T	0.50516	-0.8819	9	0.35671	T	0.21	.	2.2733	0.04096	0.2348:0.1708:0.0:0.5944	.	282	Q9UN67	PCDBA_HUMAN	V	282	ENSP00000239446:F282V	ENSP00000239446:F282V	F	+	1	0	PCDHB10	140553153	0.045000	0.20229	1.000000	0.80357	0.344000	0.29017	1.263000	0.33004	1.572000	0.49736	0.454000	0.30748	TTT		0.393	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		12	58	12	58	---	---	---	---
PCDHGA5	56110	broad.mit.edu	37	5	140745592	140745592	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:140745592C>A	ENST00000518069.1	+	1	1695	c.1695C>A	c.(1693-1695)ccC>ccA	p.P565P	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	565					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGTACCCCGCCCTCCCCA	0.612																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(1693-1695)ccC>ccA									139.0	153.0	148.0					5																	140745592		2203	4300	6503	SO:0001819	synonymous_variant	56110							g.chr5:140745592C>A	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1695C>A	5.37:g.140745592C>A			Somatic				PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	p.P565P	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1695	+								Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	37	c.1695C>A	CCDS54925.1																																																																																				0.612	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		6	197	6	197	---	---	---	---
PCDHGA11	56105	broad.mit.edu	37	5	140801620	140801620	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:140801620G>T	ENST00000398587.2	+	1	859	c.826G>T	c.(826-828)Ggg>Tgg	p.G276W	PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.G276W|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	276	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G276R(2)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAATCAACGGGGAAGTAAT	0.463																																						ENST00000398587.2																			2	Substitution - Missense(2)	p.G276R(2)	lung(2)	breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49						c.(826-828)Ggg>Tgg									141.0	141.0	141.0					5																	140801620		1866	4103	5969	SO:0001583	missense	56105							g.chr5:140801620G>T	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.826G>T	5.37:g.140801620G>T	ENSP00000381589:p.Gly276Trp		Somatic				PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.G276W|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron	p.G276W	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	859	+								B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.826G>T	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	g	16.09	3.023930	0.54683	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.53423	0.62;0.62	5.82	4.9	0.64082	Cadherin (4);Cadherin-like (1);	229.351000	0.02392	U	0.079788	D	0.83367	0.5239	H	0.97390	3.995	0.34345	D	0.689198	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.73062	-0.4101	10	0.87932	D	0	.	15.3802	0.74648	0.0:0.0:0.86:0.14	.	276;276;276	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	W	276	ENSP00000381589:G276W;ENSP00000428333:G276W	ENSP00000381589:G276W	G	+	1	0	PCDHGA11	140781804	0.994000	0.37717	0.969000	0.41365	0.671000	0.39405	2.819000	0.48049	2.752000	0.94435	0.655000	0.94253	GGG		0.463	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		5	221	5	221	---	---	---	---
PPP2R2B	5521	broad.mit.edu	37	5	146080644	146080644	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:146080644C>A	ENST00000394413.3	-	2	702	c.132G>T	c.(130-132)aaG>aaT	p.K44N	PPP2R2B_ENST00000394409.3_Missense_Mutation_p.K102N|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.K44N|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.K33N|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.K44N|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.K44N|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.K33N|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.K110N|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.K47N|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.K50N			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	44					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCGACCCCCCTTGTCCCCTG	0.448																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(130-132)aaG>aaT		protein phosphatase 2, regulatory subunit B, beta							306.0	314.0	311.0					5																	146080644		2203	4300	6503	SO:0001583	missense	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146080644C>A	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.132G>T	5.37:g.146080644C>A	ENSP00000377935:p.Lys44Asn		Somatic				PPP2R2B_ENST00000336640.6_Missense_Mutation_p.K47N|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.K102N|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.K44N|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.K44N|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.K33N|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.K44N|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.K50N|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.K110N|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.K33N	p.K44N			WXS	Illumina GAIIx	Phase_I	Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	702	-			44					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	c.132G>T	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783107	0.70222	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409;ENST00000508267	T;T;T;T;T;T;T;T;T;T;T	0.76448	-1.01;-1.0;1.28;-1.01;-1.01;-1.01;-1.0;-1.02;-1.0;1.28;-0.52	6.07	5.21	0.72293	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86343	0.5910	M	0.75884	2.315	0.80722	D	1	D;D;D;P;P;D	0.63880	0.993;0.98;0.98;0.797;0.936;0.98	P;P;P;B;B;P	0.61658	0.868;0.858;0.858;0.42;0.364;0.892	D	0.88197	0.2881	10	0.87932	D	0	-14.403	15.5979	0.76602	0.0:0.9341:0.0:0.0659	.	102;50;33;110;47;44	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	N	44;33;110;44;44;44;33;47;50;102;24	ENSP00000377935:K44N;ENSP00000431320:K33N;ENSP00000377936:K110N;ENSP00000377933:K44N;ENSP00000349283:K44N;ENSP00000398779:K44N;ENSP00000377932:K33N;ENSP00000336591:K47N;ENSP00000421396:K50N;ENSP00000377931:K102N;ENSP00000421224:K24N	ENSP00000336591:K47N	K	-	3	2	AC011357.1	146060837	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.123000	0.41996	1.578000	0.49821	0.655000	0.94253	AAG		0.448	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		10	545	10	545	---	---	---	---
SPINK5	11005	broad.mit.edu	37	5	147486631	147486631	+	Missense_Mutation	SNP	G	G	T	rs567684545		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:147486631G>T	ENST00000256084.7	+	17	1553	c.1511G>T	c.(1510-1512)aGg>aTg	p.R504M	SPINK5_ENST00000359874.3_Missense_Mutation_p.R504M|SPINK5_ENST00000398454.1_Missense_Mutation_p.R504M	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	504	Kazal-like 8. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCAAGTGAGGAATGGAACA	0.438																																						ENST00000359874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64						c.(1510-1512)aGg>aTg		serine peptidase inhibitor, Kazal type 5							139.0	131.0	134.0					5																	147486631		1938	4143	6081	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147486631G>T	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1511G>T	5.37:g.147486631G>T	ENSP00000256084:p.Arg504Met		Somatic				SPINK5_ENST00000398454.1_Missense_Mutation_p.R504M|SPINK5_ENST00000256084.7_Missense_Mutation_p.R504M	p.R504M	NM_001127698.1	NP_001121170.1	WXS	Illumina GAIIx	Phase_I	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		17	1584	+			504			Kazal-like 8.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.1511G>T	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715909	0.48622	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.08008	3.14;3.14;3.14;3.14	4.81	3.0	0.34707	Proteinase inhibitor I1, Kazal (1);	0.121890	0.37261	N	0.002171	T	0.22126	0.0533	M	0.75777	2.31	0.23304	N	0.997945	D;D;D;D	0.62365	0.969;0.991;0.985;0.991	P;D;P;D	0.66497	0.77;0.944;0.77;0.944	T	0.02546	-1.1143	10	0.45353	T	0.12	-5.8154	7.7746	0.29030	0.194:0.0:0.806:0.0	.	485;504;504;504	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	M	504;504;485;504	ENSP00000381472:R504M;ENSP00000352936:R504M;ENSP00000421519:R485M;ENSP00000256084:R504M	ENSP00000256084:R504M	R	+	2	0	SPINK5	147466824	0.009000	0.17119	0.154000	0.22540	0.767000	0.43475	0.134000	0.15932	0.730000	0.32425	0.561000	0.74099	AGG		0.438	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		6	115	6	115	---	---	---	---
NKX2-5	1482	broad.mit.edu	37	5	172659608	172659608	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:172659608C>A	ENST00000329198.4	-	2	1212	c.939G>T	c.(937-939)tcG>tcT	p.S313S		NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	313					adult heart development (GO:0007512)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial cardiac muscle cell development (GO:0055014)|atrial septum morphogenesis (GO:0060413)|atrioventricular node cell development (GO:0060928)|atrioventricular node cell fate commitment (GO:0060929)|BMP signaling pathway (GO:0030509)|bundle of His development (GO:0003166)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac ventricle formation (GO:0003211)|cell differentiation (GO:0030154)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|hemopoiesis (GO:0030097)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|pharyngeal system development (GO:0060037)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart contraction (GO:0045823)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|proepicardium development (GO:0003342)|pulmonary myocardium development (GO:0003350)|Purkinje myocyte differentiation (GO:0003168)|regulation of cardiac muscle cell proliferation (GO:0060043)|regulation of cardiac muscle contraction (GO:0055117)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|sarcomere organization (GO:0045214)|septum secundum development (GO:0003285)|spleen development (GO:0048536)|thyroid gland development (GO:0030878)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGGACACTCCCGAGTTGCTCT	0.657																																					Esophageal Squamous(72;810 1219 2387 13420 44943)	ENST00000329198.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12						c.(937-939)tcG>tcT		NK2 homeobox 5							38.0	40.0	39.0					5																	172659608		2203	4300	6503	SO:0001819	synonymous_variant	1482				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	g.chr5:172659608C>A	AB021133	CCDS4387.1, CCDS54949.1, CCDS54950.1	5q34	2014-09-17	2011-06-01	2002-10-04	ENSG00000183072	ENSG00000183072		"""Homeoboxes / ANTP class : NKL subclass"""	2488	protein-coding gene	gene with protein product	"""tinman paralog (Drosophila)"""	600584	"""cardiac-specific homeo box"", ""NK2 transcription factor related, locus 5 (Drosophila)"""	CSX, NKX2E		7665173, 8900537	Standard	NM_004387		Approved	CSX1, NKX2.5, NKX4-1	uc003mcm.2	P52952	OTTHUMG00000130522	ENST00000329198.4:c.939G>T	5.37:g.172659608C>A			Somatic					p.S313S	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	WXS	Illumina GAIIx	Phase_I	P52952	NKX25_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1212	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	313					A8K3K0|B4DNB6|E9PBU6	Silent	SNP	ENST00000329198.4	37	c.939G>T	CCDS4387.1																																																																																				0.657	NKX2-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252942.2			4	50	4	50	---	---	---	---
IRF4	3662	broad.mit.edu	37	6	397187	397187	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:397187C>A	ENST00000380956.4	+	5	698	c.572C>A	c.(571-573)cCg>cAg	p.P191Q	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	191					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CCGGAAATCCCGTACCAATGT	0.567			T	IGH@	MM																																	ENST00000380956.4				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM		0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(571-573)cCg>cAg		interferon regulatory factor 4							107.0	111.0	109.0					6																	397187		2203	4300	6503	SO:0001583	missense	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:397187C>A	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.572C>A	6.37:g.397187C>A	ENSP00000370343:p.Pro191Gln		Somatic				IRF4_ENST00000495137.1_3'UTR	p.P191Q	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	WXS	Illumina GAIIx	Phase_I	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	5	698	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	191					Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	c.572C>A	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209616	0.58343	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.97303	-4.33	5.3	5.3	0.74995	.	0.419289	0.26293	N	0.025201	D	0.92378	0.7581	L	0.32530	0.975	0.53688	D	0.999979	B;B;B;P	0.41673	0.034;0.065;0.087;0.759	B;B;B;B	0.36289	0.034;0.038;0.041;0.221	D	0.92949	0.6379	10	0.44086	T	0.13	-6.3521	18.9705	0.92713	0.0:1.0:0.0:0.0	.	191;221;190;191	F2Z3D5;Q99419;Q15306-2;Q15306	.;.;.;IRF4_HUMAN	Q	191;220	ENSP00000370343:P191Q	ENSP00000370343:P191Q	P	+	2	0	IRF4	342187	1.000000	0.71417	0.630000	0.29268	0.722000	0.41435	6.346000	0.72999	2.490000	0.84030	0.555000	0.69702	CCG		0.567	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			6	143	6	143	---	---	---	---
EEF1E1	9521	broad.mit.edu	37	6	8097604	8097604	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:8097604C>A	ENST00000379715.5	-	2	240	c.184G>T	c.(184-186)Ggg>Tgg	p.G62W	EEF1E1_ENST00000429723.2_Missense_Mutation_p.G62W|EEF1E1-BLOC1S5_ENST00000397456.2_Missense_Mutation_p.G62W|EEF1E1_ENST00000507463.1_Missense_Mutation_p.G62W	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	62	GST C-terminal.|Linker.				gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					GCAGTACTCCCCAGCAAATAT	0.418																																						ENST00000379715.5																			0				endometrium(1)|prostate(1)	2						c.(184-186)Ggg>Tgg		eukaryotic translation elongation factor 1 epsilon 1							182.0	165.0	171.0					6																	8097604		2203	4300	6503	SO:0001583	missense	9521				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus		g.chr6:8097604C>A	AF054186	CCDS4507.1, CCDS47370.1	6p24.3	2009-05-20			ENSG00000124802	ENSG00000124802			3212	protein-coding gene	gene with protein product	"""aminoacyl tRNA synthetase complex-interacting multifunctional protein 3"""	609206		P18		9653160	Standard	NM_004280		Approved	AIMP3	uc003mxz.3	O43324	OTTHUMG00000014221	ENST00000379715.5:c.184G>T	6.37:g.8097604C>A	ENSP00000369038:p.Gly62Trp		Somatic				EEF1E1-BLOC1S5_ENST00000397456.2_Missense_Mutation_p.G62W|EEF1E1_ENST00000429723.2_Missense_Mutation_p.G62W|EEF1E1_ENST00000507463.1_Missense_Mutation_p.G62W	p.G62W	NM_004280.4	NP_004271.1	WXS	Illumina GAIIx	Phase_I	O43324	MCA3_HUMAN			2	240	-	Ovarian(93;0.0398)		62			GST C-terminal.		C9JLK5|Q5THS2	Missense_Mutation	SNP	ENST00000379715.5	37	c.184G>T	CCDS4507.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.838849|4.838849	0.91117|0.91117	.|.	.|.	ENSG00000124802|ENSG00000124802	ENST00000429723;ENST00000379715;ENST00000507463;ENST00000488226|ENST00000502429	T;T;T|.	0.15017|.	3.26;3.26;2.46|.	5.62|5.62	5.62|5.62	0.85841|0.85841	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);Thioredoxin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82737|0.82737	0.5102|0.5102	M|M	0.88570|0.88570	2.965|2.965	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.84560|0.84560	0.0649|0.0649	9|5	.|.	.|.	.|.	-20.0729|-20.0729	19.6614|19.6614	0.95875|0.95875	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	62;62|.	C9JLK5;O43324|.	.;MCA3_HUMAN|.	W|C	62;62;62;74|48	ENSP00000414363:G62W;ENSP00000369038:G62W;ENSP00000425577:G74W|.	.|.	G|W	-|-	1|3	0|0	EEF1E1|EEF1E1	8042603|8042603	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	6.723000|6.723000	0.74742|0.74742	2.633000|2.633000	0.89246|0.89246	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.418	EEF1E1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039799.2	NM_004280		6	135	6	135	---	---	---	---
MYLIP	29116	broad.mit.edu	37	6	16145414	16145414	+	Silent	SNP	C	C	A	rs141183183		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:16145414C>A	ENST00000356840.3	+	6	1312	c.1114C>A	c.(1114-1116)Cgg>Agg	p.R372R	MYLIP_ENST00000349606.4_Silent_p.R191R	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	372					cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R372R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			CCAGCAGACCCGGGTGCTGCA	0.582																																						ENST00000349606.4																			1	Substitution - coding silent(1)	p.R372R(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(571-573)Cgg>Agg		myosin regulatory light chain interacting protein							74.0	76.0	75.0					6																	16145414		2203	4300	6503	SO:0001819	synonymous_variant	29116				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:16145414C>A	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.1114C>A	6.37:g.16145414C>A			Somatic				MYLIP_ENST00000356840.3_Silent_p.R372R	p.R191R			WXS	Illumina GAIIx	Phase_I	Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		5	1075	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	372			FERM.		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Silent	SNP	ENST00000356840.3	37	c.571C>A	CCDS4536.1																																																																																				0.582	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		5	137	5	137	---	---	---	---
HIST1H2AE	3012	broad.mit.edu	37	6	26217532	26217532	+	Silent	SNP	C	C	A	rs16891432		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:26217532C>A	ENST00000303910.2	+	1	368	c.330C>A	c.(328-330)ccC>ccA	p.P110P	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	110						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				GTGTCCTGCCCAACATCCAGG	0.572																																						ENST00000303910.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10						c.(328-330)ccC>ccA		histone cluster 1, H2ae							66.0	65.0	65.0					6																	26217532		2203	4300	6503	SO:0001819	synonymous_variant	3012				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26217532C>A	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.330C>A	6.37:g.26217532C>A			Somatic					p.P110P	NM_021052.2	NP_066390.1	WXS	Illumina GAIIx	Phase_I	P04908	H2A1B_HUMAN			1	368	+		all_hematologic(11;0.196)	110					P28001|Q76P63	Silent	SNP	ENST00000303910.2	37	c.330C>A	CCDS4595.1																																																																																				0.572	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		5	71	5	71	---	---	---	---
ZNF322	79692	broad.mit.edu	37	6	26637649	26637649	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:26637649G>T	ENST00000415922.2	-	4	1778	c.1133C>A	c.(1132-1134)cCg>cAg	p.P378Q	ZNF322_ENST00000471278.1_Missense_Mutation_p.P378Q|ZNF322_ENST00000461899.1_5'Flank|RP11-457M11.2_ENST00000456172.1_RNA	NM_024639.4	NP_078915.2	Q6U7Q0	ZN322_HUMAN	zinc finger protein 322	378					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ACAGACAAACGGTTTTTCACC	0.443																																						ENST00000415922.2																			0											c.(1132-1134)cCg>cAg		zinc finger protein 322							341.0	252.0	282.0					6																	26637649		2202	4299	6501	SO:0001583	missense	79692				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr6:26637649G>T	AY376736	CCDS4617.1	6p22.1	2013-01-08	2011-07-29	2011-07-29	ENSG00000181315	ENSG00000181315		"""Zinc fingers, C2H2-type"""	23640	protein-coding gene	gene with protein product		610847	"""zinc finger protein 489"", ""HLA complex group 12"", ""zinc finger protein 322A"""	ZNF489, ZNF388, HCG12, ZNF322A		15555580	Standard	NM_024639		Approved	bA457M11.3, bA457M11.2	uc021yny.1	Q6U7Q0	OTTHUMG00000014460	ENST00000415922.2:c.1133C>A	6.37:g.26637649G>T	ENSP00000418897:p.Pro378Gln		Somatic				ZNF322_ENST00000471278.1_Missense_Mutation_p.P378Q	p.P378Q	NM_024639.4	NP_078915.2	WXS	Illumina GAIIx	Phase_I	Q6U7Q0	Z322A_HUMAN			4	1778	-			378					A8K1X3|Q0VDH6|Q6B0G2|Q86W72|Q9H5I9	Missense_Mutation	SNP	ENST00000415922.2	37	c.1133C>A	CCDS4617.1	.	.	.	.	.	.	.	.	.	.	g	16.19	3.052384	0.55218	.	.	ENSG00000181315	ENST00000415922;ENST00000471278	T;T	0.20598	2.06;2.06	4.53	4.53	0.55603	.	0.000000	0.42420	D	0.000707	T	0.37679	0.1012	M	0.84948	2.725	0.37130	D	0.901211	D	0.89917	1.0	D	0.77557	0.99	T	0.39165	-0.9627	10	0.87932	D	0	-5.4658	8.6716	0.34154	0.1031:0.0:0.8969:0.0	.	378	Q6U7Q0	ZN322_HUMAN	Q	378	ENSP00000418897:P378Q;ENSP00000419728:P378Q	ENSP00000418897:P378Q	P	-	2	0	ZNF322	26745628	1.000000	0.71417	0.686000	0.30086	0.903000	0.53119	4.558000	0.60789	2.491000	0.84063	0.655000	0.94253	CCG		0.443	ZNF322-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040126.2	NM_024639		7	394	7	394	---	---	---	---
HIST1H4L	8368	broad.mit.edu	37	6	27841267	27841267	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:27841267C>A	ENST00000355981.2	-	1	22	c.22G>T	c.(22-24)Ggg>Tgg	p.G8W	HIST1H3I_ENST00000328488.2_5'Flank	NM_003546.2	NP_003537.1	P62805	H4_HUMAN	histone cluster 1, H4l	8					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						AGACccttcccgcctttgccg	0.557																																						ENST00000355981.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(22-24)Ggg>Tgg		histone cluster 1, H4l							47.0	44.0	45.0					6																	27841267		2203	4300	6503	SO:0001583	missense	8368				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27841267C>A	X83548	CCDS4637.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198558	ENSG00000275126		"""Histones / Replication-dependent"""	4791	protein-coding gene	gene with protein product		602831	"""H4 histone family, member K"", ""histone 1, H4l"""	H4FK		9031620, 9439656, 12408966	Standard	NM_003546		Approved	H4.k, H4/k	uc003njz.3	P62805	OTTHUMG00000016211	ENST00000355981.2:c.22G>T	6.37:g.27841267C>A	ENSP00000348258:p.Gly8Trp		Somatic					p.G8W	NM_003546.2	NP_003537.1	WXS	Illumina GAIIx	Phase_I	P62805	H4_HUMAN			1	22	-			8					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000355981.2	37	c.22G>T	CCDS4637.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751375	0.49257	.	.	ENSG00000198558	ENST00000355981	.	.	.	3.91	3.0	0.34707	.	0.000000	0.64402	D	0.000002	T	0.61565	0.2357	.	.	.	0.44221	D	0.997058	.	.	.	.	.	.	T	0.66921	-0.5801	6	0.87932	D	0	.	10.8625	0.46835	0.1906:0.8094:0.0:0.0	.	.	.	.	W	8	.	ENSP00000348258:G8W	G	-	1	0	HIST1H4L	27949246	1.000000	0.71417	0.028000	0.17463	0.040000	0.13550	7.285000	0.78660	0.884000	0.36064	0.655000	0.94253	GGG		0.557	HIST1H4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043513.1	NM_003546		4	69	4	69	---	---	---	---
PPP1R18	170954	broad.mit.edu	37	6	30653707	30653707	+	Missense_Mutation	SNP	C	C	A	rs200269206		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:30653707C>A	ENST00000274853.3	-	1	1965	c.89G>T	c.(88-90)cGg>cTg	p.R30L	NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Missense_Mutation_p.R30L	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	30						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CAGGCGCTCCCGTTCTGCTTT	0.677																																						ENST00000274853.3																			0											c.(88-90)cGg>cTg		protein phosphatase 1, regulatory subunit 18							89.0	105.0	100.0					6																	30653707		1258	2535	3793	SO:0001583	missense	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30653707C>A	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29413	protein-coding gene	gene with protein product	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	610990	"""KIAA1949"""	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.89G>T	6.37:g.30653707C>A	ENSP00000274853:p.Arg30Leu		Somatic				PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Missense_Mutation_p.R30L	p.R30L	NM_133471.3	NP_597728.1	WXS	Illumina GAIIx	Phase_I	Q6NYC8	PHTNS_HUMAN			1	1965	-			30					A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Missense_Mutation	SNP	ENST00000274853.3	37	c.89G>T	CCDS43444.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281292	0.40394	.	.	ENSG00000146112	ENST00000274853;ENST00000399199;ENST00000376424	T;T	0.25250	1.81;1.81	5.56	1.75	0.24633	.	0.176669	0.25887	N	0.027656	T	0.06188	0.0160	L	0.27053	0.805	0.32058	N	0.596028	B	0.16603	0.018	B	0.22753	0.041	T	0.15578	-1.0432	10	0.72032	D	0.01	-5.9648	4.8836	0.13692	0.1358:0.5519:0.0:0.3123	.	30	Q6NYC8	PPR18_HUMAN	L	30	ENSP00000274853:R30L;ENSP00000382150:R30L	ENSP00000274853:R30L	R	-	2	0	KIAA1949	30761686	0.583000	0.26757	0.354000	0.25760	0.716000	0.41182	-0.047000	0.11963	0.311000	0.23014	0.655000	0.94253	CGG		0.677	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		6	193	6	193	---	---	---	---
CFB	629	broad.mit.edu	37	6	31914338	31914338	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:31914338C>A	ENST00000425368.2	+	2	766	c.253C>A	c.(253-255)Ctg>Atg	p.L85M	CFB_ENST00000456570.1_Missense_Mutation_p.L587M|CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Missense_Mutation_p.L587M	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	85	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CTGGAGCACCCTGAAGACTCA	0.577																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(1759-1761)Ctg>Atg		complement factor B							73.0	57.0	63.0					6																	31914338		1511	2709	4220	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31914338C>A	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.253C>A	6.37:g.31914338C>A	ENSP00000416561:p.Leu85Met		Somatic				CFB_ENST00000425368.2_Missense_Mutation_p.L85M|CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Missense_Mutation_p.L587M	p.L587M			WXS	Illumina GAIIx	Phase_I	P00751	CFAB_HUMAN			14	1814	+			85			Peptidase S1.		B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	c.1759C>A	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380922	0.42207	.	.	ENSG00000243649;ENSG00000243649;ENSG00000243649;ENSG00000244255	ENST00000556679;ENST00000475617;ENST00000425368;ENST00000456570	D;T;T;D	0.82255	-1.59;-0.16;-1.47;-1.59	5.17	4.24	0.50183	Sushi/SCR/CCP (2);	0.952708	0.08586	N	0.923739	T	0.81143	0.4761	L	0.35341	1.055	0.42033	D	0.991036	D;P;B;P	0.89917	1.0;0.898;0.252;0.823	D;P;B;P	0.97110	1.0;0.896;0.152;0.485	T	0.74182	-0.3748	10	0.25751	T	0.34	0.0177	10.1601	0.42847	0.1988:0.8012:0.0:0.0	.	85;587;85;85	B4E1Z1;B4E1Z4;P00751;P00751-2	.;.;CFAB_HUMAN;.	M	587;85;85;587	ENSP00000451848:L587M;ENSP00000420090:L85M;ENSP00000416561:L85M;ENSP00000410815:L587M	ENSP00000416561:L85M	L	+	1	2	CFB;XXbac-BPG116M5.17	32022317	0.970000	0.33590	0.139000	0.22197	0.425000	0.31504	1.777000	0.38604	2.437000	0.82529	0.313000	0.20887	CTG		0.577	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		5	37	5	37	---	---	---	---
BRPF3	27154	broad.mit.edu	37	6	36196700	36196700	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:36196700C>A	ENST00000357641.6	+	12	3554	c.3301C>A	c.(3301-3303)Cgg>Agg	p.R1101R	BRPF3_ENST00000543502.1_Silent_p.R831R|BRPF3_ENST00000339717.7_Silent_p.R831R|BRPF3_ENST00000443324.2_Silent_p.R767R|BRPF3_ENST00000534694.1_Silent_p.R767R|BRPF3_ENST00000534400.1_Missense_Mutation_p.P1068Q	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1101	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CAAGATGCCCCGGGAGGGCCT	0.612																																						ENST00000534400.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(3202-3204)cCg>cAg		bromodomain and PHD finger containing, 3							84.0	80.0	81.0					6																	36196700		2203	4300	6503	SO:0001819	synonymous_variant	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36196700C>A	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.3301C>A	6.37:g.36196700C>A			Somatic				BRPF3_ENST00000543502.1_Silent_p.R831R|BRPF3_ENST00000534694.1_Silent_p.R767R|BRPF3_ENST00000443324.2_Silent_p.R767R|BRPF3_ENST00000339717.7_Silent_p.R831R|BRPF3_ENST00000357641.6_Silent_p.R1101R	p.P1068Q			WXS	Illumina GAIIx	Phase_I	Q9ULD4	BRPF3_HUMAN			10	3229	+			960					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.3203C>A	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659518	0.47467	.	.	ENSG00000096070	ENST00000534400	T	0.14391	2.51	5.21	5.21	0.72293	.	.	.	.	.	T	0.10337	0.0253	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.13548	-1.0505	6	0.22109	T	0.4	.	12.7675	0.57401	0.2862:0.7138:0.0:0.0	.	.	.	.	Q	1068	ENSP00000436504:P1068Q	ENSP00000436504:P1068Q	P	+	2	0	BRPF3	36304678	0.816000	0.29132	1.000000	0.80357	1.000000	0.99986	1.476000	0.35420	2.591000	0.87537	0.655000	0.94253	CCG		0.612	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		6	106	6	106	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38980409	38980409	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:38980409C>A	ENST00000359357.3	+	89	13313	c.13059C>A	c.(13057-13059)ccC>ccA	p.P4353P	DNAH8_ENST00000441566.1_Silent_p.P4317P			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4353					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTTTAATCCCCAAGGTATGT	0.378																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(13057-13059)ccC>ccA		dynein, axonemal, heavy chain 8							194.0	192.0	193.0					6																	38980409		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38980409C>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.13059C>A	6.37:g.38980409C>A			Somatic				DNAH8_ENST00000441566.1_Silent_p.P4317P	p.P4353P			WXS	Illumina GAIIx	Phase_I					89	13313	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.13059C>A																																																																																					0.378	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		6	160	6	160	---	---	---	---
USP49	25862	broad.mit.edu	37	6	41774513	41774513	+	Missense_Mutation	SNP	C	C	A	rs139687733		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:41774513C>A	ENST00000394253.3	-	3	538	c.209G>T	c.(208-210)cGg>cTg	p.R70L	USP49_ENST00000297229.2_Missense_Mutation_p.R70L|USP49_ENST00000373009.3_Missense_Mutation_p.R70L|USP49_ENST00000373006.1_Missense_Mutation_p.R70L|USP49_ENST00000373010.1_Missense_Mutation_p.R70L			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	70					histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.R70L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTAGAGATCCCGGACTTCCAT	0.592																																						ENST00000394253.3																			1	Substitution - Missense(1)	p.R70L(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23						c.(208-210)cGg>cTg		ubiquitin specific peptidase 49							135.0	135.0	135.0					6																	41774513		2203	4300	6503	SO:0001583	missense	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41774513C>A	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.209G>T	6.37:g.41774513C>A	ENSP00000377797:p.Arg70Leu		Somatic				USP49_ENST00000373009.3_Missense_Mutation_p.R70L|USP49_ENST00000373006.1_Missense_Mutation_p.R70L|USP49_ENST00000297229.2_Missense_Mutation_p.R70L|USP49_ENST00000373010.1_Missense_Mutation_p.R70L	p.R70L			WXS	Illumina GAIIx	Phase_I	Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		3	538	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		70					Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37	c.209G>T		.	.	.	.	.	.	.	.	.	.	C	18.30	3.594477	0.66219	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.2	4.25	0.50352	.	0.322572	0.34484	N	0.003932	T	0.16642	0.0400	L	0.48642	1.525	0.39819	D	0.972818	P	0.34546	0.456	B	0.40534	0.332	T	0.14227	-1.0480	10	0.72032	D	0.01	-10.115	4.5525	0.12120	0.0:0.7228:0.0:0.2771	.	70	Q70CQ1-2	.	L	70	ENSP00000377797:R70L;ENSP00000362101:R70L;ENSP00000362100:R70L;ENSP00000362097:R70L;ENSP00000297229:R70L	ENSP00000297229:R70L	R	-	2	0	USP49	41882491	0.995000	0.38212	1.000000	0.80357	0.992000	0.81027	3.560000	0.53763	2.704000	0.92352	0.655000	0.94253	CGG		0.592	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		7	164	7	164	---	---	---	---
POLR1C	9533	broad.mit.edu	37	6	43488045	43488045	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:43488045G>T	ENST00000372389.3	+	6	623	c.535G>T	c.(535-537)Ggg>Tgg	p.G179W	POLR1C_ENST00000304004.3_Missense_Mutation_p.G179W|POLR1C_ENST00000372344.2_Missense_Mutation_p.G179W|RP3-337H4.9_ENST00000607571.1_RNA	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	179					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GATCCCCCTGGGGAACCAGGC	0.522																																						ENST00000372389.3																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(535-537)Ggg>Tgg		polymerase (RNA) I polypeptide C, 30kDa							139.0	142.0	141.0					6																	43488045		2203	4300	6503	SO:0001583	missense	9533				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	g.chr6:43488045G>T	AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"""RNA polymerase subunits"""	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.535G>T	6.37:g.43488045G>T	ENSP00000361465:p.Gly179Trp		Somatic				POLR1C_ENST00000304004.3_Missense_Mutation_p.G179W|POLR1C_ENST00000372344.2_Missense_Mutation_p.G179W	p.G179W	NM_203290.2	NP_976035.1	WXS	Illumina GAIIx	Phase_I	O15160	RPAC1_HUMAN	Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		6	623	+	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		179					O75395|Q5JTE3	Missense_Mutation	SNP	ENST00000372389.3	37	c.535G>T	CCDS4901.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.4|29.4	5.004962|5.004962	0.93287|0.93287	.|.	.|.	ENSG00000171453|ENSG00000171453	ENST00000423780|ENST00000428025;ENST00000372389;ENST00000372373;ENST00000372344;ENST00000304004	.|D;D;T	.|0.85411	.|-1.93;-1.98;-0.94	5.53|5.53	5.53|5.53	0.82687|0.82687	.|DNA-directed RNA polymerase, RpoA/D/Rpb3-type (1);DNA-directed RNA polymerase, insert domain (3);DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.94555|0.94555	0.8246|0.8246	H|H	0.94503|0.94503	3.545|3.545	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	D|D	0.95526|0.95526	0.8599|0.8599	6|10	.|0.87932	.|D	.|0	-29.7051|-29.7051	19.4658|19.4658	0.94939|0.94939	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|179;179	.|O15160-2;O15160	.|.;RPAC1_HUMAN	V|W	138|124;179;93;179;179	.|ENSP00000361465:G179W;ENSP00000361419:G179W;ENSP00000307212:G179W	.|ENSP00000307212:G179W	G|G	+|+	2|1	0|0	POLR1C|POLR1C	43596023|43596023	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	9.750000|9.750000	0.98875|0.98875	2.599000|2.599000	0.87857|0.87857	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.522	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040652.3	NM_004875		9	156	9	156	---	---	---	---
CYP39A1	51302	broad.mit.edu	37	6	46563765	46563765	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:46563765C>A	ENST00000275016.2	-	8	1227	c.1024G>T	c.(1024-1026)Ggt>Tgt	p.G342C		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	342					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						GTAATGACACCAGGAGCTTTT	0.353																																						ENST00000275016.2																		EIF3K/CYP39A1(2)	0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						c.(1024-1026)Ggt>Tgt		cytochrome P450, family 39, subfamily A, polypeptide 1							96.0	102.0	100.0					6																	46563765		2203	4300	6503	SO:0001583	missense	51302				bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr6:46563765C>A	AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"""Cytochrome P450s"""	17449	protein-coding gene	gene with protein product		605994	"""cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"""			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.1024G>T	6.37:g.46563765C>A	ENSP00000275016:p.Gly342Cys		Somatic					p.G342C	NM_016593.3	NP_057677.2	WXS	Illumina GAIIx	Phase_I	Q9NYL5	CP39A_HUMAN			8	1227	-			342					Q5VTT0|Q96FW5	Missense_Mutation	SNP	ENST00000275016.2	37	c.1024G>T	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.278541	0.80692	.	.	ENSG00000146233	ENST00000275016	T	0.69175	-0.38	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.81034	0.4739	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.81420	-0.0941	10	0.51188	T	0.08	-10.4037	18.0315	0.89286	0.0:1.0:0.0:0.0	.	322;342	B7Z786;Q9NYL5	.;CP39A_HUMAN	C	342	ENSP00000275016:G342C	ENSP00000275016:G342C	G	-	1	0	CYP39A1	46671724	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.805000	0.69143	2.687000	0.91594	0.557000	0.71058	GGT		0.353	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1			5	118	5	118	---	---	---	---
CRISP3	10321	broad.mit.edu	37	6	49703267	49703267	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:49703267C>A	ENST00000393666.1	-	3	233	c.227G>T	c.(226-228)tGg>tTg	p.W76L	CRISP3_ENST00000433368.2_Missense_Mutation_p.W99L|CRISP3_ENST00000371159.4_Missense_Mutation_p.W107L|CRISP3_ENST00000263045.4_Missense_Mutation_p.W89L|CRISP3_ENST00000423399.2_5'UTR			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	76	SCP.				defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTGGTTTGCCCACTTTTGGGC	0.358																																						ENST00000433368.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27						c.(295-297)tGg>tTg		cysteine-rich secretory protein 3							159.0	148.0	151.0					6																	49703267		2203	4300	6503	SO:0001583	missense	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49703267C>A	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.227G>T	6.37:g.49703267C>A	ENSP00000377274:p.Trp76Leu		Somatic				CRISP3_ENST00000371159.4_Missense_Mutation_p.W107L|CRISP3_ENST00000263045.4_Missense_Mutation_p.W89L|CRISP3_ENST00000423399.2_5'UTR|CRISP3_ENST00000393666.1_Missense_Mutation_p.W76L	p.W99L	NM_001190986.1	NP_001177915.1	WXS	Illumina GAIIx	Phase_I	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		4	365	-	Lung NSC(77;0.0161)		76					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	ENST00000393666.1	37	c.296G>T		.	.	.	.	.	.	.	.	.	.	C	17.66	3.444244	0.63067	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000371159;ENST00000354620	T;T;T;T;T	0.08546	3.08;3.08;3.08;3.08;3.08	4.79	3.9	0.45041	CAP domain (3);	0.000000	0.64402	U	0.000007	T	0.21590	0.0520	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02991	-1.1085	10	0.54805	T	0.06	.	10.9285	0.47205	0.0:0.8093:0.1907:0.0	.	76	P54108	CRIS3_HUMAN	L	89;99;76;107;99	ENSP00000263045:W89L;ENSP00000389026:W99L;ENSP00000377274:W76L;ENSP00000360201:W107L;ENSP00000346636:W99L	ENSP00000263045:W89L	W	-	2	0	CRISP3	49811226	1.000000	0.71417	0.800000	0.32199	0.744000	0.42396	4.586000	0.60984	0.970000	0.38263	0.462000	0.41574	TGG		0.358	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		6	211	6	211	---	---	---	---
CRISP3	10321	broad.mit.edu	37	6	49704221	49704221	+	Splice_Site	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:49704221C>A	ENST00000393666.1	-	2	79		c.e2-1		CRISP3_ENST00000433368.2_Splice_Site|CRISP3_ENST00000371159.4_Splice_Site|CRISP3_ENST00000263045.4_Splice_Site|CRISP3_ENST00000423399.2_Intron			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3						defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AAGCGGGATCCTAAGGGAAAA	0.363																																						ENST00000433368.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27						c.e3-1		cysteine-rich secretory protein 3							146.0	142.0	144.0					6																	49704221		2203	4300	6503	SO:0001630	splice_region_variant	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49704221C>A	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.73-1G>T	6.37:g.49704221C>A			Somatic				CRISP3_ENST00000371159.4_Splice_Site|CRISP3_ENST00000263045.4_Splice_Site|CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000393666.1_Splice_Site		NM_001190986.1	NP_001177915.1	WXS	Illumina GAIIx	Phase_I	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		3	211	-	Lung NSC(77;0.0161)							A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Splice_Site	SNP	ENST00000393666.1	37			.	.	.	.	.	.	.	.	.	.	C	10.31	1.314057	0.23908	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000371159;ENST00000354620	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9968	0.64407	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CRISP3	49812180	0.960000	0.32886	0.062000	0.19696	0.006000	0.05464	4.052000	0.57420	2.453000	0.82957	0.655000	0.94253	.		0.363	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061	Intron	6	178	6	178	---	---	---	---
COL9A1	1297	broad.mit.edu	37	6	70965065	70965065	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:70965065C>A	ENST00000357250.6	-	22	1690	c.1532G>T	c.(1531-1533)gGa>gTa	p.G511V	COL9A1_ENST00000320755.7_Missense_Mutation_p.G268V|COL9A1_ENST00000370499.4_Missense_Mutation_p.G268V|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	511	Collagen-like 5.|Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ACCTGCTTCTCCTGGAGGTCC	0.363																																						ENST00000357250.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(1531-1533)gGa>gTa		collagen, type IX, alpha 1							178.0	158.0	165.0					6																	70965065		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70965065C>A		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1532G>T	6.37:g.70965065C>A	ENSP00000349790:p.Gly511Val		Somatic				COL9A1_ENST00000370499.4_Missense_Mutation_p.G268V|COL9A1_ENST00000320755.7_Missense_Mutation_p.G268V|COL9A1_ENST00000489611.1_5'UTR	p.G511V	NM_001851.4	NP_001842.3	WXS	Illumina GAIIx	Phase_I	P20849	CO9A1_HUMAN			22	1690	-			511			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.1532G>T	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361842	0.61403	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.99637	-6.29;-6.29;-6.29	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.99859	0.9934	H	0.98818	4.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96558	0.9413	10	0.87932	D	0	.	17.6295	0.88103	0.0:1.0:0.0:0.0	.	511;268;84	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	V	511;268;268	ENSP00000349790:G511V;ENSP00000315252:G268V;ENSP00000359530:G268V	ENSP00000315252:G268V	G	-	2	0	COL9A1	71021786	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.370000	0.73114	2.583000	0.87209	0.655000	0.94253	GGA		0.363	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			6	134	6	134	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90460077	90460077	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:90460077C>A	ENST00000369393.3	-	24	3517	c.3402G>T	c.(3400-3402)aaG>aaT	p.K1134N	MDN1_ENST00000428876.1_Missense_Mutation_p.K1134N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1134					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCCTACCTTCCTTAAAGACAA	0.408																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(3400-3402)aaG>aaT		MDN1, midasin homolog (yeast)							154.0	133.0	140.0					6																	90460077		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90460077C>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.3402G>T	6.37:g.90460077C>A	ENSP00000358400:p.Lys1134Asn		Somatic				MDN1_ENST00000428876.1_Missense_Mutation_p.K1134N	p.K1134N			WXS	Illumina GAIIx	Phase_I	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	24	3517	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1134					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.3402G>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	8.391	0.839834	0.16891	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.55413	0.52;0.52;0.52	5.59	-0.968	0.10313	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.048965	0.85682	N	0.000000	T	0.27967	0.0689	L	0.58810	1.83	0.39686	D	0.970971	B	0.29037	0.231	B	0.34301	0.179	T	0.08617	-1.0713	10	0.41790	T	0.15	.	7.1166	0.25421	0.1315:0.4825:0.0:0.386	.	1134	Q9NU22	MDN1_HUMAN	N	1134;1134;1061	ENSP00000358400:K1134N;ENSP00000413970:K1134N;ENSP00000409664:K1061N	ENSP00000358400:K1134N	K	-	3	2	MDN1	90516798	1.000000	0.71417	0.990000	0.47175	0.427000	0.31564	1.013000	0.29937	-0.431000	0.07307	-1.305000	0.01319	AAG		0.408	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			6	117	6	117	---	---	---	---
AK9	221264	broad.mit.edu	37	6	109867181	109867181	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:109867181C>A	ENST00000424296.2	-	26	3190	c.3114G>T	c.(3112-3114)gtG>gtT	p.V1038V	AK9_ENST00000341338.6_Silent_p.V117V|AK9_ENST00000355283.1_Silent_p.V117V	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1038	Adenylate kinase 2.|NMPbind 2. {ECO:0000250}.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										ATTCAGGTCCCACTTTCTTTT	0.368																																						ENST00000424296.2																			0											c.(3112-3114)gtG>gtT		adenylate kinase 9							101.0	100.0	100.0					6																	109867181		2203	4300	6503	SO:0001819	synonymous_variant	221264							g.chr6:109867181C>A	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3114G>T	6.37:g.109867181C>A			Somatic				AK9_ENST00000341338.6_Silent_p.V117V|AK9_ENST00000355283.1_Silent_p.V117V	p.V1038V	NM_001145128.2	NP_001138600.2	WXS	Illumina GAIIx	Phase_I					26	3190	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Silent	SNP	ENST00000424296.2	37	c.3114G>T	CCDS55048.1																																																																																				0.368	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		6	105	6	105	---	---	---	---
DSE	29940	broad.mit.edu	37	6	116720686	116720686	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:116720686C>A	ENST00000331677.3	+	3	717	c.273C>A	c.(271-273)ccC>ccA	p.P91P	DSE_ENST00000540275.1_3'UTR|DSE_ENST00000537543.1_Silent_p.P110P|DSE_ENST00000452085.3_Silent_p.P91P|DSE_ENST00000359564.2_Silent_p.P91P			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	91					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CCTGGGATCCCAAGGACTACA	0.562																																						ENST00000331677.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(271-273)ccC>ccA		dermatan sulfate epimerase							38.0	39.0	38.0					6																	116720686		2203	4300	6503	SO:0001819	synonymous_variant	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116720686C>A	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.273C>A	6.37:g.116720686C>A			Somatic				DSE_ENST00000540275.1_3'UTR|DSE_ENST00000452085.3_Silent_p.P91P|DSE_ENST00000359564.2_Silent_p.P91P|DSE_ENST00000537543.1_Silent_p.P110P	p.P91P			WXS	Illumina GAIIx	Phase_I	Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	3	717	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	91					Q5R3K6	Silent	SNP	ENST00000331677.3	37	c.273C>A	CCDS5107.1																																																																																				0.562	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		5	53	5	53	---	---	---	---
SLC35F1	222553	broad.mit.edu	37	6	118475607	118475607	+	Splice_Site	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:118475607G>T	ENST00000360388.4	+	2	374		c.e2-1			NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TTATTTCTCAGGGAGATGTTA	0.418																																						ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.e2-1		solute carrier family 35, member F1							145.0	138.0	140.0					6																	118475607		2203	4300	6503	SO:0001630	splice_region_variant	222553				transport	integral to membrane		g.chr6:118475607G>T	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.174-1G>T	6.37:g.118475607G>T			Somatic						NM_001029858.3	NP_001025029.2	WXS	Illumina GAIIx	Phase_I	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	2	374	+								E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Splice_Site	SNP	ENST00000360388.4	37		CCDS34524.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722437	0.89298	.	.	ENSG00000196376	ENST00000360388	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC35F1	118582300	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.560000	0.90712	2.865000	0.98341	0.655000	0.94253	.		0.418	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044	Intron	6	118	6	118	---	---	---	---
MED23	9439	broad.mit.edu	37	6	131939623	131939623	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:131939623C>A	ENST00000368068.3	-	9	883	c.704G>T	c.(703-705)gGt>gTt	p.G235V	MED23_ENST00000539158.1_Missense_Mutation_p.G235V|MED23_ENST00000540546.1_Missense_Mutation_p.G235V|MED23_ENST00000368053.4_Missense_Mutation_p.G235V|MED23_ENST00000368060.3_Missense_Mutation_p.G235V|MED23_ENST00000403834.3_Missense_Mutation_p.G235V|MED23_ENST00000368058.1_Missense_Mutation_p.G235V|MED23_ENST00000354577.4_Missense_Mutation_p.G235V	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	235					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ACAAATGGCACCCGAATTATT	0.368																																						ENST00000403834.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44						c.(703-705)gGt>gTt		mediator complex subunit 23							96.0	87.0	90.0					6																	131939623		2203	4300	6503	SO:0001583	missense	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131939623C>A	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.704G>T	6.37:g.131939623C>A	ENSP00000357047:p.Gly235Val		Somatic				MED23_ENST00000368068.3_Missense_Mutation_p.G235V|MED23_ENST00000354577.4_Missense_Mutation_p.G235V|MED23_ENST00000368058.1_Missense_Mutation_p.G235V|MED23_ENST00000368053.4_Missense_Mutation_p.G235V|MED23_ENST00000368060.3_Missense_Mutation_p.G235V|MED23_ENST00000540546.1_Missense_Mutation_p.G235V|MED23_ENST00000539158.1_Missense_Mutation_p.G235V	p.G235V			WXS	Illumina GAIIx	Phase_I	Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	9	877	-	Breast(56;0.0753)		235					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	c.704G>T	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667717	0.88348	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000368053;ENST00000540546;ENST00000539158	T;T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.80949	0.4722	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.87578	0.998;0.959;0.931	T	0.82860	-0.0248	10	0.66056	D	0.02	-15.6603	19.3773	0.94517	0.0:1.0:0.0:0.0	.	235;235;235	Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;MED23_HUMAN;.	V	235	ENSP00000346588:G235V;ENSP00000357047:G235V;ENSP00000384536:G235V;ENSP00000357039:G235V;ENSP00000357037:G235V;ENSP00000357032:G235V;ENSP00000437818:G235V;ENSP00000445072:G235V	ENSP00000346588:G235V	G	-	2	0	MED23	131981316	1.000000	0.71417	0.161000	0.22692	0.962000	0.63368	7.818000	0.86416	2.583000	0.87209	0.650000	0.86243	GGT		0.368	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			5	27	5	27	---	---	---	---
TXLNB	167838	broad.mit.edu	37	6	139564168	139564168	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:139564168G>T	ENST00000358430.3	-	10	1782	c.1550C>A	c.(1549-1551)cCg>cAg	p.P517Q	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	517						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GGACTGGTGCGGGGTTGACTC	0.527																																						ENST00000358430.3																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37						c.(1549-1551)cCg>cAg		taxilin beta							125.0	132.0	130.0					6																	139564168		2203	4300	6503	SO:0001583	missense	167838					cytoplasm		g.chr6:139564168G>T		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1550C>A	6.37:g.139564168G>T	ENSP00000351206:p.Pro517Gln		Somatic				RP1-225E12.3_ENST00000585874.1_RNA	p.P517Q	NM_153235.3	NP_694967.3	WXS	Illumina GAIIx	Phase_I	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	10	1782	-			517					Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	c.1550C>A	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249585	0.22880	.	.	ENSG00000164440	ENST00000358430	T	0.13307	2.6	5.85	-7.05	0.01573	.	1.316900	0.04841	N	0.440459	T	0.01523	0.0049	N	0.14661	0.345	0.09310	N	1	B	0.20164	0.042	B	0.12156	0.007	T	0.41910	-0.9482	9	.	.	.	1.5468	3.1803	0.06582	0.2588:0.0985:0.4298:0.2129	.	517	Q8N3L3	TXLNB_HUMAN	Q	517	ENSP00000351206:P517Q	.	P	-	2	0	TXLNB	139605861	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.275000	0.08525	-0.847000	0.04168	-0.897000	0.02905	CCG		0.527	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		7	215	7	215	---	---	---	---
HIVEP2	3097	broad.mit.edu	37	6	143081332	143081332	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:143081332C>A	ENST00000367604.1	-	8	6732	c.6093G>T	c.(6091-6093)gaG>gaT	p.E2031D	HIVEP2_ENST00000012134.2_Missense_Mutation_p.E2031D|HIVEP2_ENST00000367603.2_Missense_Mutation_p.E2031D			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2031					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AGGAGCTTGGCTCTGAAGGTA	0.483																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(6091-6093)gaG>gaT		human immunodeficiency virus type I enhancer binding protein 2							207.0	191.0	196.0					6																	143081332		1969	4176	6145	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143081332C>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6093G>T	6.37:g.143081332C>A	ENSP00000356576:p.Glu2031Asp		Somatic				HIVEP2_ENST00000367604.1_Missense_Mutation_p.E2031D|HIVEP2_ENST00000012134.2_Missense_Mutation_p.E2031D	p.E2031D	NM_006734.3	NP_006725.3	WXS	Illumina GAIIx	Phase_I	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	9	6835	-			2031					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.6093G>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582394	0.28180	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02345	4.33;4.33;4.33	5.87	2.62	0.31277	.	0.193098	0.53938	N	0.000055	T	0.00552	0.0018	N	0.14661	0.345	0.37115	D	0.900544	B	0.09022	0.002	B	0.09377	0.004	T	0.47262	-0.9131	10	0.23302	T	0.38	-27.3686	2.551	0.04749	0.2286:0.4627:0.1123:0.1965	.	2031	P31629	ZEP2_HUMAN	D	2031	ENSP00000356576:E2031D;ENSP00000356575:E2031D;ENSP00000012134:E2031D	ENSP00000012134:E2031D	E	-	3	2	HIVEP2	143123025	0.079000	0.21365	0.997000	0.53966	0.974000	0.67602	-0.532000	0.06164	0.787000	0.33731	0.585000	0.79938	GAG		0.483	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			6	193	6	193	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157511228	157511228	+	Missense_Mutation	SNP	C	C	A	rs150196933		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:157511228C>A	ENST00000350026.5	+	14	3708	c.3707C>A	c.(3706-3708)cCg>cAg	p.P1236Q	ARID1B_ENST00000367148.1_Missense_Mutation_p.P1289Q|ARID1B_ENST00000346085.5_Missense_Mutation_p.P1249Q|ARID1B_ENST00000275248.4_Missense_Mutation_p.P1231Q	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1236					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.P1231Q(1)|p.P1249Q(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCATCCTTCCCGAAACGGAAC	0.512																																						ENST00000346085.5																			2	Substitution - Missense(2)	p.P1231Q(1)|p.P1249Q(1)	lung(2)	NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(3745-3747)cCg>cAg		AT rich interactive domain 1B (SWI1-like)							160.0	156.0	157.0					6																	157511228		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157511228C>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3707C>A	6.37:g.157511228C>A	ENSP00000055163:p.Pro1236Gln		Somatic				ARID1B_ENST00000350026.5_Missense_Mutation_p.P1236Q|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1289Q|ARID1B_ENST00000275248.4_Missense_Mutation_p.P1231Q	p.P1249Q	NM_020732.3	NP_065783.3	WXS	Illumina GAIIx	Phase_I	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	15	3747	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1236					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.3746C>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379547	0.42207	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02050	4.85;4.83;4.8;4.82;4.48	5.95	5.95	0.96441	.	0.123261	0.56097	D	0.000030	T	0.00608	0.0020	N	0.03608	-0.345	0.52099	D	0.999948	B;B;B	0.18610	0.017;0.029;0.029	B;B;B	0.15870	0.006;0.014;0.014	T	0.61367	-0.7077	10	0.17832	T	0.49	.	15.1469	0.72662	0.1412:0.8588:0.0:0.0	.	1236;1249;1231	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	Q	1249;1236;1289;1231;758	ENSP00000344546:P1249Q;ENSP00000055163:P1236Q;ENSP00000356116:P1289Q;ENSP00000275248:P1231Q;ENSP00000412835:P758Q	ENSP00000275248:P1231Q	P	+	2	0	ARID1B	157552920	0.962000	0.33011	0.969000	0.41365	0.867000	0.49689	2.425000	0.44723	2.824000	0.97209	0.655000	0.94253	CCG		0.512	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		6	229	6	229	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157528693	157528693	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:157528693C>A	ENST00000350026.5	+	19	6380	c.6379C>A	c.(6379-6381)Caa>Aaa	p.Q2127K	ARID1B_ENST00000367148.1_Missense_Mutation_p.Q2180K|ARID1B_ENST00000346085.5_Missense_Mutation_p.Q2140K|ARID1B_ENST00000275248.4_Missense_Mutation_p.Q2122K	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2127					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GAACCTTGCCCAAGGGGACGC	0.498																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(6418-6420)Caa>Aaa		AT rich interactive domain 1B (SWI1-like)							161.0	162.0	162.0					6																	157528693		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157528693C>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.6379C>A	6.37:g.157528693C>A	ENSP00000055163:p.Gln2127Lys		Somatic				ARID1B_ENST00000350026.5_Missense_Mutation_p.Q2127K|ARID1B_ENST00000367148.1_Missense_Mutation_p.Q2180K|ARID1B_ENST00000275248.4_Missense_Mutation_p.Q2122K	p.Q2140K	NM_020732.3	NP_065783.3	WXS	Illumina GAIIx	Phase_I	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	6419	+		Breast(66;0.000162)|Ovarian(120;0.0265)	2127					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.6418C>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286377	0.40494	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39	5.46	4.59	0.56863	Armadillo-like helical (1);	0.051749	0.85682	D	0.000000	T	0.47710	0.1460	M	0.75447	2.3	0.58432	D	0.999999	D;D;D	0.69078	0.997;0.996;0.996	P;P;P	0.62885	0.908;0.851;0.851	T	0.54892	-0.8225	10	0.59425	D	0.04	.	14.4632	0.67465	0.0:0.9291:0.0:0.0709	.	2127;2140;2122	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	K	2140;2127;2180;2122;1649	ENSP00000344546:Q2140K;ENSP00000055163:Q2127K;ENSP00000356116:Q2180K;ENSP00000275248:Q2122K;ENSP00000412835:Q1649K	ENSP00000275248:Q2122K	Q	+	1	0	ARID1B	157570385	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.768000	0.85345	1.426000	0.47256	0.655000	0.94253	CAA		0.498	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		8	307	8	307	---	---	---	---
KIF25	3834	broad.mit.edu	37	6	168431490	168431490	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:168431490G>T	ENST00000443060.2	+	4	521	c.130G>T	c.(130-132)Gga>Tga	p.G44*	KIF25_ENST00000351261.3_Nonsense_Mutation_p.G44*|KIF25_ENST00000354419.2_Nonsense_Mutation_p.G44*			Q9UIL4	KIF25_HUMAN	kinesin family member 25	44	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CGCGGTCTTTGGAGATGTGTG	0.428																																						ENST00000443060.2																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(130-132)Gga>Tga		kinesin family member 25							144.0	148.0	146.0					6																	168431490		2203	4300	6503	SO:0001587	stop_gained	3834				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168431490G>T	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.130G>T	6.37:g.168431490G>T	ENSP00000388878:p.Gly44*		Somatic				KIF25_ENST00000351261.3_Nonsense_Mutation_p.G44*|KIF25_ENST00000354419.2_Nonsense_Mutation_p.G44*	p.G44*			WXS	Illumina GAIIx	Phase_I	Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	4	521	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	44			Kinesin-motor.		O94775|Q5SZU9	Nonsense_Mutation	SNP	ENST00000443060.2	37	c.130G>T	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121462	0.77436	.	.	ENSG00000125337	ENST00000443060;ENST00000354419;ENST00000351261	.	.	.	4.36	4.36	0.52297	.	0.622761	0.15272	N	0.271196	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-27.1699	8.3517	0.32305	0.1105:0.0:0.8895:0.0	.	.	.	.	X	44	.	ENSP00000252688:G44X	G	+	1	0	KIF25	168174339	0.898000	0.30612	0.037000	0.18230	0.041000	0.13682	1.850000	0.39328	1.947000	0.56498	0.591000	0.81541	GGA		0.428	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			6	129	6	129	---	---	---	---
MAD1L1	8379	broad.mit.edu	37	7	2041727	2041727	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:2041727C>A	ENST00000406869.1	-	14	1946	c.1389G>T	c.(1387-1389)ctG>ctT	p.L463L	MAD1L1_ENST00000265854.7_Silent_p.L463L|MAD1L1_ENST00000399654.2_Silent_p.L463L|MAD1L1_ENST00000402746.1_Silent_p.L371L			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	463	Necessary for interaction with NEK2.				mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCTGGCCTCCCAGCTCCTCCA	0.627																																						ENST00000406869.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(1387-1389)ctG>ctT		MAD1 mitotic arrest deficient-like 1 (yeast)							135.0	156.0	149.0					7																	2041727		2073	4213	6286	SO:0001819	synonymous_variant	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2041727C>A	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1389G>T	7.37:g.2041727C>A			Somatic				MAD1L1_ENST00000402746.1_Silent_p.L371L|MAD1L1_ENST00000399654.2_Silent_p.L463L|MAD1L1_ENST00000265854.7_Silent_p.L463L	p.L463L			WXS	Illumina GAIIx	Phase_I	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	14	1946	-		Ovarian(82;0.0272)	463			Necessary for interaction with NEK2.		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	c.1389G>T	CCDS43539.1																																																																																				0.627	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		7	235	7	235	---	---	---	---
AMZ1	155185	broad.mit.edu	37	7	2740198	2740198	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:2740198C>A	ENST00000312371.4	+	2	481	c.113C>A	c.(112-114)cCt>cAt	p.P38H	AMZ1_ENST00000407112.1_Missense_Mutation_p.P38H	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	38							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GCCTTCTCCCCTGCCGAGCGG	0.667																																						ENST00000312371.4																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(112-114)cCt>cAt		archaelysin family metallopeptidase 1							113.0	122.0	119.0					7																	2740198		2203	4300	6503	SO:0001583	missense	155185						metallopeptidase activity|zinc ion binding	g.chr7:2740198C>A	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.113C>A	7.37:g.2740198C>A	ENSP00000308149:p.Pro38His		Somatic				AMZ1_ENST00000407112.1_Missense_Mutation_p.P38H	p.P38H	NM_133463.1	NP_597720.1	WXS	Illumina GAIIx	Phase_I	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	2	481	+		Ovarian(82;0.0779)	38					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.113C>A	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651600	0.47362	.	.	ENSG00000174945	ENST00000312371;ENST00000407112	T;T	0.32515	1.92;1.45	4.34	2.37	0.29283	.	0.320653	0.22405	N	0.060488	T	0.37293	0.0998	L	0.59436	1.845	0.26258	N	0.978612	D;P	0.59767	0.986;0.875	P;B	0.56865	0.808;0.436	T	0.20739	-1.0266	10	0.72032	D	0.01	-32.6788	2.7287	0.05221	0.1579:0.4877:0.2468:0.1076	.	38;38	B3KRS0;Q400G9	.;AMZ1_HUMAN	H	38	ENSP00000308149:P38H;ENSP00000386020:P38H	ENSP00000308149:P38H	P	+	2	0	AMZ1	2706724	0.771000	0.28555	0.689000	0.30133	0.398000	0.30690	1.076000	0.30729	0.820000	0.34516	0.561000	0.74099	CCT		0.667	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		7	228	7	228	---	---	---	---
DFNA5	1687	broad.mit.edu	37	7	24758794	24758794	+	Nonsense_Mutation	SNP	C	C	A	rs78941420		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:24758794C>A	ENST00000342947.3	-	4	873	c.448G>T	c.(448-450)Gga>Tga	p.G150*	DFNA5_ENST00000419307.1_De_novo_Start_OutOfFrame|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409970.1_De_novo_Start_OutOfFrame|DFNA5_ENST00000545231.1_De_novo_Start_OutOfFrame|DFNA5_ENST00000409775.3_Nonsense_Mutation_p.G150*	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	150					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TCATTCCTTCCTTCCAGCACC	0.493																																					GBM(78;184 1250 20134 20900 23600)	ENST00000545231.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19								deafness, autosomal dominant 5							165.0	145.0	152.0					7																	24758794		2203	4300	6503	SO:0001587	stop_gained	1687				sensory perception of sound			g.chr7:24758794C>A	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.448G>T	7.37:g.24758794C>A	ENSP00000339587:p.Gly150*		Somatic				DFNA5_ENST00000409970.1_De_novo_Start_OutOfFrame|DFNA5_ENST00000342947.3_Nonsense_Mutation_p.G150*|DFNA5_ENST00000409775.3_Nonsense_Mutation_p.G150*|DFNA5_ENST00000419307.1_De_novo_Start_OutOfFrame|DFNA5_ENST00000559637.1_5'UTR				WXS	Illumina GAIIx	Phase_I	O60443	DFNA5_HUMAN			0	1106	-								A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Translation_Start_Site	SNP	ENST00000342947.3	37		CCDS5389.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.853769	0.32791	.	.	ENSG00000105928	ENST00000342947;ENST00000409775	.	.	.	5.17	2.85	0.33270	.	0.549911	0.21161	N	0.079148	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-6.6348	7.0005	0.24807	0.0:0.1964:0.0:0.8036	.	.	.	.	X	150	.	ENSP00000339587:G150X	G	-	1	0	DFNA5	24725319	0.449000	0.25689	0.787000	0.31911	0.010000	0.07245	0.704000	0.25661	0.825000	0.34637	-0.302000	0.09304	GGA		0.493	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2	NM_004403		6	128	6	128	---	---	---	---
POM121L12	285877	broad.mit.edu	37	7	53104001	53104001	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:53104001C>A	ENST00000408890.4	+	1	653	c.637C>A	c.(637-639)Cgg>Agg	p.R213R		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	213										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTGCAGCCCCGGCCCTCTGC	0.672																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(637-639)Cgg>Agg		POM121 transmembrane nucleoporin-like 12							45.0	55.0	52.0					7																	53104001		1974	4130	6104	SO:0001819	synonymous_variant	285877							g.chr7:53104001C>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.637C>A	7.37:g.53104001C>A			Somatic					p.R213R	NM_182595.3	NP_872401.3	WXS	Illumina GAIIx	Phase_I	Q8N7R1	P1L12_HUMAN			1	653	+			213					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.637C>A	CCDS43584.1																																																																																				0.672	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		5	111	5	111	---	---	---	---
FAM133B	257415	broad.mit.edu	37	7	92219586	92219586	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:92219586C>A	ENST00000445716.1	-	1	122	c.20G>T	c.(19-21)cGg>cTg	p.R7L	FAM133B_ENST00000427372.1_5'Flank|FAM133B_ENST00000438306.1_5'UTR	NM_152789.2	NP_690002.2	Q5BKY9	F133B_HUMAN	family with sequence similarity 133, member B	7							poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	4	all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ACTCACCACCCGATTGTCCCG	0.697											OREG0018164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000445716.1																			0				endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	4						c.(19-21)cGg>cTg		family with sequence similarity 133, member B							40.0	43.0	42.0					7																	92219586		1952	4126	6078	SO:0001583	missense	257415							g.chr7:92219586C>A		CCDS47640.1, CCDS47641.1	7q21.2	2014-02-12	2007-04-26		ENSG00000234545	ENSG00000234545			28629	protein-coding gene	gene with protein product						12477932	Standard	NM_152789		Approved	MGC40405	uc003umc.3	Q5BKY9	OTTHUMG00000155863	ENST00000445716.1:c.20G>T	7.37:g.92219586C>A	ENSP00000398401:p.Arg7Leu		Somatic	OREG0018164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1288	FAM133B_ENST00000438306.1_5'UTR	p.R7L	NM_152789.2	NP_690002.2	WXS	Illumina GAIIx	Phase_I	Q5BKY9	F133B_HUMAN	STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		1	122	-	all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237)		7					B2R994|Q05D67|Q6P5S6|Q8N0W8	Missense_Mutation	SNP	ENST00000445716.1	37	c.20G>T	CCDS47640.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525069	0.64747	.	.	ENSG00000234545	ENST00000445716	T	0.39787	1.06	4.76	3.88	0.44766	.	.	.	.	.	T	0.52322	0.1727	L	0.57536	1.79	0.80722	D	1	D	0.62365	0.991	P	0.55112	0.769	T	0.57900	-0.7731	9	0.87932	D	0	0.0076	12.9297	0.58280	0.0:0.9203:0.0:0.0797	.	7	Q5BKY9	F133B_HUMAN	L	7	ENSP00000398401:R7L	ENSP00000389559:R7L	R	-	2	0	FAM133B	92057522	0.998000	0.40836	0.934000	0.37439	0.467000	0.32768	4.538000	0.60650	1.372000	0.46190	0.555000	0.69702	CGG		0.697	FAM133B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342181.2	NM_001040057		4	72	4	72	---	---	---	---
PEG10	23089	broad.mit.edu	37	7	94293631	94293631	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:94293631C>A	ENST00000482108.1	+	2	1242	c.763C>A	c.(763-765)Cgg>Agg	p.R255R	PEG10_ENST00000488574.1_Silent_p.R255R	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	255	Necessary for interaction with ALK1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTCGCCACCCCGGGCGCTGGT	0.622																																						ENST00000482108.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21						c.(763-765)Cgg>Agg		paternally expressed 10							15.0	19.0	18.0					7																	94293631		2054	4198	6252	SO:0001819	synonymous_variant	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94293631C>A	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.763C>A	7.37:g.94293631C>A			Somatic				PEG10_ENST00000488574.1_Silent_p.R255R	p.R255R	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	WXS	Illumina GAIIx	Phase_I	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	1242	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		255			Necessary for interaction with ALK1.		Q96A68|Q9UPV1	Silent	SNP	ENST00000482108.1	37	c.763C>A	CCDS55126.1																																																																																				0.622	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068		4	24	4	24	---	---	---	---
CYP3A43	64816	broad.mit.edu	37	7	99457531	99457531	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:99457531C>A	ENST00000354829.2	+	10	1047	c.944C>A	c.(943-945)cCc>cAc	p.P315H	CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000312017.5_Missense_Mutation_p.P315H|CYP3A43_ENST00000222382.5_Missense_Mutation_p.P315H|CYP3A43_ENST00000342499.4_Missense_Mutation_p.P175H|CYP3A43_ENST00000417625.1_Missense_Mutation_p.P205H|CYP3A43_ENST00000415413.1_Missense_Mutation_p.P104H|CYP3A43_ENST00000444905.1_Missense_Mutation_p.P62H	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	315			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	ACCACTCTCCCCTTCATTATG	0.463																																						ENST00000354829.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(943-945)cCc>cAc		cytochrome P450, family 3, subfamily A, polypeptide 43	Cetirizine(DB00341)|Doxycycline(DB00254)						183.0	167.0	173.0					7																	99457531		2203	4300	6503	SO:0001583	missense	64816				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr7:99457531C>A	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.944C>A	7.37:g.99457531C>A	ENSP00000346887:p.Pro315His		Somatic				CYP3A43_ENST00000312017.5_Missense_Mutation_p.P315H|CYP3A43_ENST00000444905.1_Missense_Mutation_p.P62H|CYP3A43_ENST00000417625.1_Missense_Mutation_p.P205H|CYP3A43_ENST00000222382.5_Missense_Mutation_p.P315H|CYP3A43_ENST00000415413.1_Missense_Mutation_p.P104H|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000342499.4_Missense_Mutation_p.P175H	p.P315H	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	WXS	Illumina GAIIx	Phase_I	Q9HB55	CP343_HUMAN			10	1047	+	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		315		Missing (in allele CYP3A43*2).			Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	ENST00000354829.2	37	c.944C>A	CCDS5676.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090952	0.36855	.	.	ENSG00000021461	ENST00000354829;ENST00000417625;ENST00000342499;ENST00000444905;ENST00000415413;ENST00000312017;ENST00000222382	T;T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	2.49	2.49	0.30216	.	0.612194	0.16636	N	0.205875	T	0.46073	0.1374	N	0.03608	-0.345	0.24677	N	0.993388	P;P;P;P;P	0.48764	0.898;0.915;0.555;0.609;0.609	P;B;B;B;B	0.45343	0.477;0.414;0.095;0.153;0.153	T	0.45396	-0.9264	10	0.87932	D	0	.	11.0606	0.47944	0.0:1.0:0.0:0.0	.	205;175;315;315;315	Q495Y1;F8W6L8;Q9HB55-3;Q75MK2;Q9HB55	.;.;.;.;CP343_HUMAN	H	315;205;175;62;104;315;315	ENSP00000346887:P315H;ENSP00000416581:P205H;ENSP00000345351:P175H;ENSP00000405557:P62H;ENSP00000401521:P104H;ENSP00000312110:P315H;ENSP00000222382:P315H	ENSP00000222382:P315H	P	+	2	0	CYP3A43	99295467	0.002000	0.14202	0.116000	0.21606	0.888000	0.51559	1.705000	0.37867	1.694000	0.51137	0.205000	0.17691	CCC		0.463	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			6	153	6	153	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100674448	100674448	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:100674448C>A	ENST00000306151.4	+	2	194	c.130C>A	c.(130-132)Caa>Aaa	p.Q44K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	44					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGCATCTCCCAAGGGGACGT	0.537																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(130-132)Caa>Aaa		mucin 17, cell surface associated							213.0	178.0	190.0					7																	100674448		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100674448C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.130C>A	7.37:g.100674448C>A	ENSP00000302716:p.Gln44Lys		Somatic					p.Q44K	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			2	194	+	Lung NSC(181;0.136)|all_lung(186;0.182)		44					O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.130C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	5.625	0.300083	0.10622	.	.	ENSG00000169876	ENST00000306151	T	0.02197	4.4	1.9	-0.186	0.13272	.	.	.	.	.	T	0.00906	0.0030	N	0.08118	0	0.09310	N	1	P	0.36222	0.544	B	0.25884	0.064	T	0.44003	-0.9356	9	0.09084	T	0.74	.	3.9886	0.09527	0.2742:0.4568:0.2689:0.0	.	44	Q685J3	MUC17_HUMAN	K	44	ENSP00000302716:Q44K	ENSP00000302716:Q44K	Q	+	1	0	MUC17	100461168	0.000000	0.05858	0.000000	0.03702	0.222000	0.24845	0.314000	0.19432	-0.048000	0.13401	0.502000	0.49764	CAA		0.537	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	190	6	190	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103234873	103234873	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:103234873G>T	ENST00000428762.1	-	26	3765	c.3606C>A	c.(3604-3606)ccC>ccA	p.P1202P	RELN_ENST00000343529.5_Silent_p.P1202P|RELN_ENST00000424685.2_Silent_p.P1202P	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1202					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGAGAACACGGGCTGCCACC	0.488																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(3604-3606)ccC>ccA		reelin							182.0	181.0	181.0					7																	103234873		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103234873G>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3606C>A	7.37:g.103234873G>T			Somatic				RELN_ENST00000343529.5_Silent_p.P1202P|RELN_ENST00000424685.2_Silent_p.P1202P	p.P1202P	NM_005045.3	NP_005036.2	WXS	Illumina GAIIx	Phase_I	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	26	3765	-			1202					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.3606C>A	CCDS47680.1																																																																																				0.488	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		6	283	6	283	---	---	---	---
RBM28	55131	broad.mit.edu	37	7	127954917	127954917	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:127954917C>A	ENST00000223073.2	-	17	2059	c.1945G>T	c.(1945-1947)Ggg>Tgg	p.G649W	RBM28_ENST00000415472.2_Missense_Mutation_p.G508W|RBM28_ENST00000481788.1_5'UTR	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	649					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						GTCTGGAACCCGGTCCATGAG	0.567																																						ENST00000223073.2																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(1945-1947)Ggg>Tgg		RNA binding motif protein 28							189.0	184.0	186.0					7																	127954917		2203	4300	6503	SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127954917C>A	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.1945G>T	7.37:g.127954917C>A	ENSP00000223073:p.Gly649Trp		Somatic				RBM28_ENST00000415472.2_Missense_Mutation_p.G508W|RBM28_ENST00000481788.1_5'UTR	p.G649W	NM_018077.2	NP_060547.2	WXS	Illumina GAIIx	Phase_I	Q9NW13	RBM28_HUMAN			17	2059	-								A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	c.1945G>T	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457259	0.84317	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.22539	2.9;1.95	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.38178	-0.9673	10	0.87932	D	0	-22.4045	18.3732	0.90420	0.0:1.0:0.0:0.0	.	508;649;508	E9PDD9;Q9NW13;B4DU52	.;RBM28_HUMAN;.	W	649;508	ENSP00000223073:G649W;ENSP00000390517:G508W	ENSP00000223073:G649W	G	-	1	0	RBM28	127742153	0.999000	0.42202	0.475000	0.27278	0.052000	0.14988	6.050000	0.71063	2.941000	0.99782	0.655000	0.94253	GGG		0.567	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		7	305	7	305	---	---	---	---
CALD1	800	broad.mit.edu	37	7	134650097	134650097	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:134650097G>T	ENST00000361675.2	+	14	2565	c.2336G>T	c.(2335-2337)tGg>tTg	p.W779L	CALD1_ENST00000417172.1_Missense_Mutation_p.W524L|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000424922.1_Missense_Mutation_p.W518L|CALD1_ENST00000393118.2_Missense_Mutation_p.W544L|CALD1_ENST00000543443.1_Missense_Mutation_p.W529L|CALD1_ENST00000422748.1_Missense_Mutation_p.W549L|CALD1_ENST00000495522.1_Missense_Mutation_p.W543L|CALD1_ENST00000361901.2_Missense_Mutation_p.W524L|CALD1_ENST00000361388.2_Missense_Mutation_p.W550L			Q05682	CALD1_HUMAN	caldesmon 1	779	Weak actin-binding. {ECO:0000250}.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						CGGAACCTCTGGGAAAAGCAA	0.428																																						ENST00000361388.2																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						c.(1648-1650)tGg>tTg		caldesmon 1							155.0	147.0	150.0					7																	134650097		2203	4300	6503	SO:0001583	missense	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134650097G>T	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.2336G>T	7.37:g.134650097G>T	ENSP00000354826:p.Trp779Leu		Somatic				CALD1_ENST00000361675.2_Missense_Mutation_p.W779L|CALD1_ENST00000495522.1_Missense_Mutation_p.W543L|CALD1_ENST00000424922.1_Missense_Mutation_p.W518L|CALD1_ENST00000417172.1_Missense_Mutation_p.W524L|CALD1_ENST00000543443.1_Missense_Mutation_p.W529L|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000422748.1_Missense_Mutation_p.W549L|CALD1_ENST00000393118.2_Missense_Mutation_p.W544L|CALD1_ENST00000361901.2_Missense_Mutation_p.W524L	p.W550L	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	WXS	Illumina GAIIx	Phase_I	Q05682	CALD1_HUMAN			14	2115	+			779					A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	c.1649G>T	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002593	0.93227	.	.	ENSG00000122786	ENST00000417172;ENST00000361388;ENST00000422748;ENST00000361675;ENST00000361901;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.93	5.93	0.95920	.	0.000000	0.49305	D	0.000150	D	0.86460	0.5938	M	0.82517	2.595	0.58432	D	0.99999	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.87578	0.998;0.996;0.998;0.998;0.99;0.99;0.994;0.996;0.996	D	0.86976	0.2101	10	0.72032	D	0.01	-13.0914	20.3465	0.98790	0.0:0.0:1.0:0.0	.	473;529;549;543;518;544;524;550;779	B4DPW5;F5H1Z9;A8K0X1;E7EX44;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682	.;.;.;.;.;.;.;.;CALD1_HUMAN	L	524;550;549;779;524;544;518;543;529	ENSP00000398826:W524L;ENSP00000355000:W550L;ENSP00000395710:W549L;ENSP00000354826:W779L;ENSP00000354513:W524L;ENSP00000376826:W544L;ENSP00000393621:W518L;ENSP00000419673:W543L;ENSP00000445641:W529L	ENSP00000355000:W550L	W	+	2	0	CALD1	134300637	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.151000	0.89636	2.798000	0.96311	0.655000	0.94253	TGG		0.428	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		7	178	7	178	---	---	---	---
SLC37A3	84255	broad.mit.edu	37	7	140043268	140043268	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:140043268C>A	ENST00000326232.9	-	13	1473	c.1270G>T	c.(1270-1272)Gcc>Tcc	p.A424S	SLC37A3_ENST00000447932.2_Missense_Mutation_p.A408S|SLC37A3_ENST00000340308.3_Intron	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	424					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					GTGACAGTGGCCAAAGCTTCA	0.507																																					Esophageal Squamous(133;211 1716 4665 11387 37873)	ENST00000326232.9																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24						c.(1270-1272)Gcc>Tcc		solute carrier family 37, member 3							129.0	112.0	118.0					7																	140043268		2203	4300	6503	SO:0001583	missense	84255				carbohydrate transport|transmembrane transport	integral to membrane		g.chr7:140043268C>A	AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"""Solute carriers"""	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.1270G>T	7.37:g.140043268C>A	ENSP00000321498:p.Ala424Ser		Somatic				SLC37A3_ENST00000340308.3_Intron|SLC37A3_ENST00000447932.2_Missense_Mutation_p.A408S	p.A424S	NM_207113.1	NP_996996.1	WXS	Illumina GAIIx	Phase_I	Q8NCC5	SPX3_HUMAN			13	1473	-	Melanoma(164;0.0142)		424					Q6PIU7|Q86SS4|Q9BQG7	Missense_Mutation	SNP	ENST00000326232.9	37	c.1270G>T	CCDS5859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.43|16.43	3.120841|3.120841	0.56613|0.56613	.|.	.|.	ENSG00000157800|ENSG00000157800	ENST00000447932;ENST00000326232;ENST00000469636;ENST00000498469|ENST00000485538;ENST00000477006	T;T;T|.	0.60299|.	0.2;0.2;0.2|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.104922|.	0.64402|.	D|.	0.000004|.	T|T	0.70745|0.70745	0.3259|0.3259	L|L	0.49513|0.49513	1.565|1.565	0.80722|0.80722	D|D	1|1	B;B;B|.	0.30634|.	0.005;0.012;0.288|.	B;B;B|.	0.34418|.	0.099;0.046;0.182|.	T|T	0.66480|0.66480	-0.5913|-0.5913	10|5	0.19590|.	T|.	0.45|.	-50.6255|-50.6255	19.451|19.451	0.94867|0.94867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	408;424;36|.	Q8NCC5-2;Q8NCC5;B3KX37|.	.;SPX3_HUMAN;.|.	S|C	408;424;8;63|21;61	ENSP00000397481:A408S;ENSP00000321498:A424S;ENSP00000418158:A63S|.	ENSP00000321498:A424S|.	A|W	-|-	1|3	0|0	SLC37A3|SLC37A3	139689737|139689737	1.000000|1.000000	0.71417|0.71417	0.828000|0.828000	0.32881|0.32881	0.736000|0.736000	0.42039|0.42039	5.986000|5.986000	0.70563|0.70563	2.593000|2.593000	0.87608|0.87608	0.655000|0.655000	0.94253|0.94253	GCC|TGG		0.507	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1	NM_032295		5	101	5	101	---	---	---	---
TMUB1	83590	broad.mit.edu	37	7	150779364	150779364	+	Missense_Mutation	SNP	G	G	T	rs146736140		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr7:150779364G>T	ENST00000392818.3	-	2	644	c.287C>A	c.(286-288)cCg>cAg	p.P96Q	TMUB1_ENST00000482202.1_Missense_Mutation_p.P96Q|TMUB1_ENST00000462940.1_Missense_Mutation_p.P96Q|FASTK_ENST00000540185.1_5'Flank|FASTK_ENST00000482571.1_5'Flank|FASTK_ENST00000353841.2_5'Flank|TMUB1_ENST00000297533.4_Missense_Mutation_p.P96Q|FASTK_ENST00000489884.1_5'Flank|FASTK_ENST00000297532.6_5'Flank|TMUB1_ENST00000476627.1_Missense_Mutation_p.P96Q	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	96						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGGGAGTCCGGGGCTGGCGG	0.647																																						ENST00000392818.3																			0				endometrium(1)|lung(1)	2						c.(286-288)cCg>cAg		transmembrane and ubiquitin-like domain containing 1							99.0	122.0	114.0					7																	150779364		2203	4300	6503	SO:0001583	missense	83590					cytoplasm|integral to membrane|nucleus		g.chr7:150779364G>T	BC000936	CCDS5920.1	7q36.1	2006-06-27	2006-06-27	2006-06-27	ENSG00000164897	ENSG00000164897			21709	protein-coding gene	gene with protein product		614792	"""chromosome 7 open reading frame 21"""	C7orf21			Standard	NM_001136044		Approved	SB144	uc003wjd.3	Q9BVT8	OTTHUMG00000158621	ENST00000392818.3:c.287C>A	7.37:g.150779364G>T	ENSP00000376565:p.Pro96Gln		Somatic				TMUB1_ENST00000297533.4_Missense_Mutation_p.P96Q|TMUB1_ENST00000462940.1_Missense_Mutation_p.P96Q|TMUB1_ENST00000482202.1_Missense_Mutation_p.P96Q|TMUB1_ENST00000476627.1_Missense_Mutation_p.P96Q	p.P96Q	NM_031434.3	NP_113622.1	WXS	Illumina GAIIx	Phase_I	Q9BVT8	TMUB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	644	-			96					D3DX06|Q53AQ2	Missense_Mutation	SNP	ENST00000392818.3	37	c.287C>A	CCDS5920.1	.	.	.	.	.	.	.	.	.	.	G	5.611	0.297437	0.10622	.	.	ENSG00000164897	ENST00000297533;ENST00000392818;ENST00000462940;ENST00000482202;ENST00000476627;ENST00000488752;ENST00000492838	T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04	4.98	2.19	0.27852	.	0.439020	0.19721	N	0.107599	T	0.31136	0.0787	L	0.33485	1.01	0.09310	N	1	D	0.57899	0.981	P	0.47528	0.549	T	0.11494	-1.0585	10	0.18710	T	0.47	-1.1396	6.4156	0.21715	0.3804:0.0:0.6196:0.0	.	96	Q9BVT8	TMUB1_HUMAN	Q	96	ENSP00000297533:P96Q;ENSP00000376565:P96Q;ENSP00000417519:P96Q;ENSP00000418709:P96Q;ENSP00000419214:P96Q;ENSP00000420692:P96Q;ENSP00000420516:P96Q	ENSP00000297533:P96Q	P	-	2	0	TMUB1	150410297	0.473000	0.25878	0.239000	0.24122	0.248000	0.25809	0.799000	0.27028	0.509000	0.28195	-0.708000	0.03648	CCG		0.647	TMUB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351485.1	NM_031434		8	262	8	262	---	---	---	---
AGPAT5	55326	broad.mit.edu	37	8	6605324	6605324	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr8:6605324G>T	ENST00000285518.6	+	6	1032	c.720G>T	c.(718-720)caG>caT	p.Q240H	AGPAT5_ENST00000530716.1_3'UTR|MIR4659B_ENST00000580269.1_RNA	NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	240					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		ATGGAGGGCAGCGAAGAGAGT	0.413																																						ENST00000285518.6																		AGPAT5/MCPH1(2)	0				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11						c.(718-720)caG>caT		1-acylglycerol-3-phosphate O-acyltransferase 5							106.0	101.0	103.0					8																	6605324		2203	4300	6503	SO:0001583	missense	55326				phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr8:6605324G>T	AF375789	CCDS34796.1	8p23.1	2013-02-05	2013-02-05		ENSG00000155189	ENSG00000155189	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20886	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, epsilon"""	614796	"""1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)"""				Standard	NM_018361		Approved	FLJ11210, LPAAT-e, LPAAT-epsilon	uc003wqo.3	Q9NUQ2	OTTHUMG00000163656	ENST00000285518.6:c.720G>T	8.37:g.6605324G>T	ENSP00000285518:p.Gln240His		Somatic				AGPAT5_ENST00000530716.1_3'UTR	p.Q240H	NM_018361.3	NP_060831.2	WXS	Illumina GAIIx	Phase_I	Q9NUQ2	PLCE_HUMAN	STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)	6	1032	+			240					Q8IZ47|Q9BQG4	Missense_Mutation	SNP	ENST00000285518.6	37	c.720G>T	CCDS34796.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633174	0.29068	.	.	ENSG00000155189	ENST00000285518	T	0.63417	-0.04	5.12	3.31	0.37934	.	0.176285	0.50627	D	0.000106	T	0.60983	0.2311	M	0.70595	2.14	0.46203	D	0.99892	P	0.44344	0.833	P	0.46685	0.524	T	0.55573	-0.8120	10	0.21014	T	0.42	-14.7752	6.9723	0.24656	0.288:0.0:0.712:0.0	.	240	Q9NUQ2	PLCE_HUMAN	H	240	ENSP00000285518:Q240H	ENSP00000285518:Q240H	Q	+	3	2	AGPAT5	6592732	1.000000	0.71417	0.807000	0.32361	0.036000	0.12997	1.037000	0.30241	0.648000	0.30732	0.655000	0.94253	CAG		0.413	AGPAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374684.1	NM_018361		8	78	8	78	---	---	---	---
TOX	9760	broad.mit.edu	37	8	59720736	59720736	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr8:59720736C>A	ENST00000361421.1	-	8	1705	c.1485G>T	c.(1483-1485)tcG>tcT	p.S495S		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	495						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S495S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TTCTGCACCCCGAACGCACAT	0.532											OREG0018787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			1	Substitution - coding silent(1)	p.S495S(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.(1483-1485)tcG>tcT		thymocyte selection-associated high mobility group box							118.0	112.0	114.0					8																	59720736		2203	4300	6503	SO:0001819	synonymous_variant	9760					nucleus	DNA binding	g.chr8:59720736C>A		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.1485G>T	8.37:g.59720736C>A			Somatic	OREG0018787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1040		p.S495S	NM_014729.2	NP_055544.1	WXS	Illumina GAIIx	Phase_I	O94900	TOX_HUMAN			8	1705	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	495					Q96AV5	Silent	SNP	ENST00000361421.1	37	c.1485G>T	CCDS34897.1																																																																																				0.532	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		4	78	4	78	---	---	---	---
HSF1	3297	broad.mit.edu	37	8	145537689	145537689	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr8:145537689C>A	ENST00000528838.1	+	12	1516	c.1356C>A	c.(1354-1356)ccC>ccA	p.P452P	GS1-393G12.12_ENST00000525023.1_RNA|HSF1_ENST00000528842.1_3'UTR|HSF1_ENST00000400780.4_Silent_p.P393P|DGAT1_ENST00000527438.1_5'Flank	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	452	Transactivation domain.				cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CCAGGCCTCCCGAGGCAGAGA	0.692																																						ENST00000528838.1																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11						c.(1354-1356)ccC>ccA		heat shock transcription factor 1							39.0	48.0	45.0					8																	145537689		2200	4296	6496	SO:0001819	synonymous_variant	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145537689C>A	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.1356C>A	8.37:g.145537689C>A			Somatic				HSF1_ENST00000400780.4_Silent_p.P393P|HSF1_ENST00000528842.1_3'UTR	p.P452P	NM_005526.2	NP_005517.1	WXS	Illumina GAIIx	Phase_I	Q00613	HSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)		12	1516	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		452			Transactivation domain.		A8K4L0|A8MW26|Q53XT4	Silent	SNP	ENST00000528838.1	37	c.1356C>A	CCDS6419.1																																																																																				0.692	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		6	69	6	69	---	---	---	---
GPT	2875	broad.mit.edu	37	8	145730203	145730203	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr8:145730203C>A	ENST00000528431.1	+	4	459	c.302C>A	c.(301-303)cCt>cAt	p.P101H	GPT_ENST00000394955.2_Missense_Mutation_p.P101H			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	101					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	CCCAACTTCCCTGACGATGCC	0.657																																						ENST00000394955.2																			0				central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(301-303)cCt>cAt		glutamic-pyruvate transaminase (alanine aminotransferase)	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						170.0	191.0	184.0					8																	145730203		2203	4300	6503	SO:0001583	missense	2875				gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr8:145730203C>A		CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.302C>A	8.37:g.145730203C>A	ENSP00000433586:p.Pro101His		Somatic				GPT_ENST00000528431.1_Missense_Mutation_p.P101H	p.P101H	NM_005309.2	NP_005300.1	WXS	Illumina GAIIx	Phase_I	P24298	ALAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		3	525	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		101					B0YJ18|D3DWM7|P78398|Q93076	Missense_Mutation	SNP	ENST00000528431.1	37	c.302C>A	CCDS6430.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880830	0.72294	.	.	ENSG00000167701	ENST00000528431;ENST00000394955	D;D	0.91180	-2.8;-2.8	5.23	5.23	0.72850	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.96534	0.8869	M	0.93283	3.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97517	1.0070	10	0.87932	D	0	-15.2993	16.2736	0.82632	0.0:1.0:0.0:0.0	.	101;101	B4DPT5;P24298	.;ALAT1_HUMAN	H	101	ENSP00000433586:P101H;ENSP00000378408:P101H	ENSP00000378408:P101H	P	+	2	0	GPT	145701011	1.000000	0.71417	0.946000	0.38457	0.324000	0.28378	6.888000	0.75622	2.431000	0.82371	0.561000	0.74099	CCT		0.657	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382471.1			8	339	8	339	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8465565	8465565	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:8465565C>A	ENST00000381196.4	-	29	4158	c.3615G>T	c.(3613-3615)ctG>ctT	p.L1205L	PTPRD_ENST00000360074.4_Silent_p.L1192L|PTPRD_ENST00000358503.5_Silent_p.L1183L|PTPRD_ENST00000355233.5_Silent_p.L794L|PTPRD_ENST00000486161.1_Silent_p.L794L|PTPRD_ENST00000540109.1_Silent_p.L1205L|PTPRD_ENST00000356435.5_Silent_p.L1205L|PTPRD_ENST00000397606.3_Silent_p.L784L|PTPRD_ENST00000397617.3_Silent_p.L784L|PTPRD_ENST00000397611.3_Silent_p.L791L|PTPRD_ENST00000537002.1_Silent_p.L791L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1205					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGTCATCCCCCAGGGTGAACT	0.433										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(3613-3615)ctG>ctT		protein tyrosine phosphatase, receptor type, D							167.0	153.0	158.0					9																	8465565		2203	4299	6502	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8465565C>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3615G>T	9.37:g.8465565C>A		TSP Lung(15;0.13)	Somatic				PTPRD_ENST00000358503.5_Silent_p.L1183L|PTPRD_ENST00000355233.5_Silent_p.L794L|PTPRD_ENST00000397606.3_Silent_p.L784L|PTPRD_ENST00000540109.1_Silent_p.L1205L|PTPRD_ENST00000356435.5_Silent_p.L1205L|PTPRD_ENST00000397617.3_Silent_p.L784L|PTPRD_ENST00000397611.3_Silent_p.L791L|PTPRD_ENST00000537002.1_Silent_p.L791L|PTPRD_ENST00000360074.4_Silent_p.L1192L|PTPRD_ENST00000486161.1_Silent_p.L794L	p.L1205L	NM_002839.3	NP_002830.1	WXS	Illumina GAIIx	Phase_I	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	29	4158	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1205					B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.3615G>T	CCDS43786.1																																																																																				0.433	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			5	101	5	101	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14842488	14842488	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:14842488G>T	ENST00000380880.3	-	9	2347	c.1564C>A	c.(1564-1566)Ccg>Acg	p.P522T	FREM1_ENST00000422223.2_Missense_Mutation_p.P522T|FREM1_ENST00000380881.4_Missense_Mutation_p.P523T			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	522					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGAGGAACGGGGGACTATCA	0.517																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1567-1569)Ccg>Acg		FRAS1 related extracellular matrix 1							138.0	139.0	139.0					9																	14842488		2035	4184	6219	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14842488G>T	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1564C>A	9.37:g.14842488G>T	ENSP00000370262:p.Pro522Thr		Somatic				FREM1_ENST00000380880.3_Missense_Mutation_p.P522T|FREM1_ENST00000422223.2_Missense_Mutation_p.P522T	p.P523T			WXS	Illumina GAIIx	Phase_I	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	10	2382	-			522					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.1567C>A	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834156	0.91036	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	D;D;D	0.89343	-2.5;-2.5;-2.5	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95436	0.8521	10	0.56958	D	0.05	-11.1608	20.3539	0.98825	0.0:0.0:1.0:0.0	.	522	Q5H8C1	FREM1_HUMAN	T	523;522;522	ENSP00000370263:P523T;ENSP00000412940:P522T;ENSP00000370262:P522T	ENSP00000370257:P525T	P	-	1	0	FREM1	14832488	1.000000	0.71417	0.464000	0.27143	0.992000	0.81027	9.476000	0.97823	2.826000	0.97356	0.655000	0.94253	CCG		0.517	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		6	128	6	128	---	---	---	---
MIR31HG	554202	broad.mit.edu	37	9	21512148	21512148	+	RNA	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:21512148C>A	ENST00000304425.3	-	0	181				MIR31_ENST00000362307.1_RNA	NR_027054.1				MIR31 host gene (non-protein coding)																		AGCAGGTTCCCAGTTCAACAG	0.463																																						ENST00000304425.3																			0																				159.0	140.0	146.0					9																	21512148		1568	3582	5150			554202							g.chr9:21512148C>A	AK124391		9p21.3	2014-07-18			ENSG00000171889	ENSG00000171889		"""-"""	37187	non-coding RNA	RNA, long non-coding						15364902, 22289355, 24631686	Standard	NR_027054		Approved	LOC554202	uc003zpe.2		OTTHUMG00000019681		9.37:g.21512148C>A			Somatic				MIR31_ENST00000362307.1_RNA		NR_027054.1		WXS	Illumina GAIIx	Phase_I					0	181	-									RNA	SNP	ENST00000304425.3	37																																																																																						0.463	MIR31HG-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000051910.1	NR_027054		5	113	5	113	---	---	---	---
STOML2	30968	broad.mit.edu	37	9	35101709	35101709	+	Silent	SNP	G	G	T	rs200523791		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:35101709G>T	ENST00000356493.5	-	5	504	c.442C>A	c.(442-444)Cgg>Agg	p.R148R	STOML2_ENST00000452248.2_Silent_p.R148R|STOML2_ENST00000487490.1_5'Flank	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	148					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTGCTTACCCGGAAGACTTTG	0.507																																						ENST00000356493.5																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16						c.(442-444)Cgg>Agg		stomatin (EPB72)-like 2							153.0	158.0	156.0					9																	35101709		2203	4300	6503	SO:0001819	synonymous_variant	30968					cytoskeleton	receptor binding	g.chr9:35101709G>T	AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.442C>A	9.37:g.35101709G>T			Somatic				STOML2_ENST00000452248.2_Silent_p.R148R	p.R148R	NM_013442.1	NP_038470.1	WXS	Illumina GAIIx	Phase_I	Q9UJZ1	STML2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		5	504	-			148					B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Silent	SNP	ENST00000356493.5	37	c.442C>A	CCDS6577.1																																																																																				0.507	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	NM_013442		6	229	6	229	---	---	---	---
ECM2	1842	broad.mit.edu	37	9	95263191	95263191	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:95263191C>A	ENST00000344604.5	-	9	1898	c.1749G>T	c.(1747-1749)ctG>ctT	p.L583L	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.L561L	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	583					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ACAAGTATTCCAGGCCTGGTT	0.478																																						ENST00000344604.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1747-1749)ctG>ctT		extracellular matrix protein 2, female organ and adipocyte specific							157.0	138.0	144.0					9																	95263191		2203	4300	6503	SO:0001819	synonymous_variant	1842				cell-matrix adhesion		integrin binding	g.chr9:95263191C>A	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.1749G>T	9.37:g.95263191C>A			Somatic				CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.L561L	p.L583L	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	WXS	Illumina GAIIx	Phase_I	O94769	ECM2_HUMAN			9	1898	-			583					B2R730|E2PU11|Q5T9F2|Q7Z3D0	Silent	SNP	ENST00000344604.5	37	c.1749G>T	CCDS6698.1																																																																																				0.478	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		6	118	6	118	---	---	---	---
ZNF484	83744	broad.mit.edu	37	9	95608641	95608641	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:95608641C>A	ENST00000375495.3	-	5	2576	c.2428G>T	c.(2428-2430)Ggg>Tgg	p.G810W	ZNF484_ENST00000332591.6_Missense_Mutation_p.G774W|ZNF484_ENST00000395506.3_Missense_Mutation_p.G812W|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Missense_Mutation_p.G774W	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	810					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AAGGCTTTCCCCAAGTCACTG	0.428																																						ENST00000395505.2																			0				NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(2320-2322)Ggg>Tgg		zinc finger protein 484							216.0	214.0	215.0					9																	95608641		2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95608641C>A	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.2428G>T	9.37:g.95608641C>A	ENSP00000364645:p.Gly810Trp		Somatic				ZNF484_ENST00000395506.3_Missense_Mutation_p.G812W|ZNF484_ENST00000375495.3_Missense_Mutation_p.G810W|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.G774W	p.G774W	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	WXS	Illumina GAIIx	Phase_I	Q5JVG2	ZN484_HUMAN			3	2412	-			810					B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.2320G>T	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	8.453	0.853512	0.17106	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	2.5	-2.25	0.06888	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49677	0.1571	N	0.08118	0	0.21445	N	0.999682	D;D	0.64830	0.994;0.994	P;P	0.60886	0.88;0.88	T	0.53187	-0.8474	9	0.87932	D	0	.	10.0974	0.42484	0.0:0.6229:0.0:0.3771	.	812;810	B4DRI2;Q5JVG2	.;ZN484_HUMAN	W	774;812;810;774	ENSP00000378881:G774W;ENSP00000378882:G812W;ENSP00000364645:G810W;ENSP00000364646:G774W	ENSP00000364646:G774W	G	-	1	0	ZNF484	94648462	0.905000	0.30787	0.024000	0.17045	0.326000	0.28443	0.707000	0.25704	-1.019000	0.03358	-1.183000	0.01708	GGG		0.428	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		8	242	8	242	---	---	---	---
FRRS1L	23732	broad.mit.edu	37	9	111909389	111909389	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:111909389T>C	ENST00000561981.2	-	3	556	c.557A>G	c.(556-558)gAg>gGg	p.E186G		NM_014334.2	NP_055149.2	Q9P0K9	FRS1L_HUMAN	ferric-chelate reductase 1-like	186	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)											TGCACTCAGCTCAAATTCTAC	0.418																																						ENST00000561981.2																			0											c.(556-558)gAg>gGg		ferric-chelate reductase 1-like							185.0	168.0	174.0					9																	111909389		2203	4300	6503	SO:0001583	missense	23732					integral to membrane		g.chr9:111909389T>C	AF155065	CCDS35098.1	9q31.3	2014-07-16	2012-03-06	2012-03-06	ENSG00000260230	ENSG00000260230			1362	protein-coding gene	gene with protein product		604574	"""chromosome 9 open reading frame 4"""	C9orf4		10603000	Standard	NM_014334		Approved	CG-6	uc004bdw.1	Q9P0K9	OTTHUMG00000020468	ENST00000561981.2:c.557A>G	9.37:g.111909389T>C	ENSP00000477141:p.Glu186Gly		Somatic					p.E186G	NM_014334.2	NP_055149.2	WXS	Illumina GAIIx	Phase_I	Q9P0K9	CI004_HUMAN			3	556	-						DOMON.		Q5T4G4	Missense_Mutation	SNP	ENST00000561981.2	37	c.557A>G	CCDS35098.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.931630	0.92389	.	.	ENSG00000136805	ENST00000374581	T	0.79845	-1.31	5.67	5.67	0.87782	DOMON domain (3);	0.000000	0.85682	D	0.000000	D	0.88672	0.6500	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89685	0.3893	10	0.72032	D	0.01	-8.6354	15.9192	0.79547	0.0:0.0:0.0:1.0	.	186	Q9P0K9	CI004_HUMAN	G	186	ENSP00000363709:E186G	ENSP00000363709:E186G	E	-	2	0	C9orf4	110949210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.608000	0.82898	2.179000	0.69175	0.528000	0.53228	GAG		0.418	FRRS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053586.2	NM_014334		3	112	3	112	---	---	---	---
GARNL3	84253	broad.mit.edu	37	9	130152979	130152979	+	Silent	SNP	C	C	A	rs143165320	byFrequency	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:130152979C>A	ENST00000373387.4	+	27	3155	c.2803C>A	c.(2803-2805)Cgg>Agg	p.R935R	GARNL3_ENST00000314904.5_3'UTR|GARNL3_ENST00000435213.2_Silent_p.R913R|GARNL3_ENST00000496711.1_3'UTR	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	935					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						ATCAAAACCCCGGAAGCGGTT	0.572																																						ENST00000373387.4																			0				NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						c.(2803-2805)Cgg>Agg		GTPase activating Rap/RanGAP domain-like 3							91.0	104.0	99.0					9																	130152979		2203	4300	6503	SO:0001819	synonymous_variant	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130152979C>A	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.2803C>A	9.37:g.130152979C>A			Somatic				GARNL3_ENST00000435213.2_Silent_p.R913R|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000314904.5_3'UTR	p.R935R	NM_032293.4	NP_115669.3	WXS	Illumina GAIIx	Phase_I	Q5VVW2	GARL3_HUMAN			27	3155	+			935					B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Silent	SNP	ENST00000373387.4	37	c.2803C>A	CCDS6869.2																																																																																				0.572	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		5	169	5	169	---	---	---	---
GOLGA2	2801	broad.mit.edu	37	9	131022413	131022413	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:131022413C>A	ENST00000421699.2	-	18	1745	c.1733G>T	c.(1732-1734)aGg>aTg	p.R578M	GOLGA2_ENST00000609374.1_Missense_Mutation_p.R566M|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	578					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TCCCAGCTCCCTCTTGACGTG	0.602																																						ENST00000421699.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(1732-1734)aGg>aTg		golgin A2							113.0	107.0	109.0					9																	131022413		2203	4300	6503	SO:0001583	missense	2801					Golgi cisterna membrane	protein binding	g.chr9:131022413C>A	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.1733G>T	9.37:g.131022413C>A	ENSP00000416097:p.Arg578Met		Somatic				GOLGA2_ENST00000609374.1_Missense_Mutation_p.R566M	p.R578M	NM_004486.4	NP_004477.3	WXS	Illumina GAIIx	Phase_I	Q08379	GOGA2_HUMAN			18	1745	-			578					Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	c.1733G>T	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	c	10.62	1.400219	0.25291	.	.	ENSG00000167110	ENST00000421699	T	0.25250	1.81	5.39	2.9	0.33743	.	0.191459	0.53938	D	0.000041	T	0.20780	0.0500	N	0.24115	0.695	0.25465	N	0.987885	P	0.51791	0.948	P	0.47162	0.54	T	0.05750	-1.0866	10	0.72032	D	0.01	.	9.3983	0.38417	0.0:0.1464:0.0:0.8536	.	578	Q08379	GOGA2_HUMAN	M	578	ENSP00000416097:R578M	ENSP00000416097:R578M	R	-	2	0	GOLGA2	130062234	1.000000	0.71417	0.733000	0.30861	0.015000	0.08874	3.987000	0.56944	0.354000	0.24105	-0.658000	0.03865	AGG		0.602	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		7	208	7	208	---	---	---	---
PNPLA7	375775	broad.mit.edu	37	9	140379166	140379166	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:140379166C>A	ENST00000277531.4	-	20	2331	c.2145G>T	c.(2143-2145)acG>acT	p.T715T	PNPLA7_ENST00000406427.1_Silent_p.T740T|PNPLA7_ENST00000371457.1_Silent_p.T321T	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	715					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGCTGCCCTCCGTGGGGAGCC	0.672																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2218-2220)acG>acT		patatin-like phospholipase domain containing 7							39.0	35.0	37.0					9																	140379166		2203	4300	6503	SO:0001819	synonymous_variant	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140379166C>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2145G>T	9.37:g.140379166C>A			Somatic				PNPLA7_ENST00000371457.1_Silent_p.T321T|PNPLA7_ENST00000277531.4_Silent_p.T715T	p.T740T	NM_001098537.1	NP_001092007.1	WXS	Illumina GAIIx	Phase_I	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	21	2556	-	all_cancers(76;0.126)		715					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	ENST00000277531.4	37	c.2220G>T	CCDS7045.1																																																																																				0.672	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		3	15	3	15	---	---	---	---
ARRDC1	92714	broad.mit.edu	37	9	140509084	140509084	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:140509084C>A	ENST00000371421.4	+	7	933	c.869C>A	c.(868-870)cCa>cAa	p.P290Q	ARRDC1_ENST00000491911.1_3'UTR|C9orf37_ENST00000496793.1_5'Flank	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	290	Pro-rich.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		AACCATGCCCCAGTGAGCCCC	0.662																																						ENST00000371421.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13						c.(868-870)cCa>cAa		arrestin domain containing 1							36.0	43.0	41.0					9																	140509084		2201	4297	6498	SO:0001583	missense	92714							g.chr9:140509084C>A	AJ420420	CCDS7049.1	9q34.3	2013-10-11			ENSG00000197070	ENSG00000197070			28633	protein-coding gene	gene with protein product	"""alpha-arrestin 1"""					23886940	Standard	XM_005266119		Approved	MGC40555	uc004cns.3	Q8N5I2	OTTHUMG00000020993	ENST00000371421.4:c.869C>A	9.37:g.140509084C>A	ENSP00000360475:p.Pro290Gln		Somatic				ARRDC1_ENST00000491911.1_3'UTR	p.P290Q	NM_152285.2	NP_689498.1	WXS	Illumina GAIIx	Phase_I	Q8N5I2	ARRD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)	7	933	+	all_cancers(76;0.106)		290			Pro-rich.			Missense_Mutation	SNP	ENST00000371421.4	37	c.869C>A	CCDS7049.1	.	.	.	.	.	.	.	.	.	.	c	13.78	2.338545	0.41398	.	.	ENSG00000197070	ENST00000371421;ENST00000419386	T;T	0.33438	3.29;1.41	5.04	3.12	0.35913	Immunoglobulin E-set (1);	0.805524	0.11694	N	0.538596	T	0.35941	0.0949	L	0.40543	1.245	0.09310	N	1	D;P;D	0.57899	0.966;0.779;0.981	P;P;P	0.55161	0.641;0.467;0.77	T	0.11518	-1.0584	10	0.36615	T	0.2	-8.4486	8.0891	0.30790	0.0:0.7884:0.0:0.2116	.	179;290;254	Q59FD7;Q8N5I2;Q5T370	.;ARRD1_HUMAN;.	Q	290;254	ENSP00000360475:P290Q;ENSP00000406833:P254Q	ENSP00000360475:P290Q	P	+	2	0	ARRDC1	139628905	0.744000	0.28250	0.002000	0.10522	0.807000	0.45602	1.423000	0.34837	0.473000	0.27368	0.456000	0.33151	CCA		0.662	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055358.1	NM_152285		6	73	6	73	---	---	---	---
BEND7	222389	broad.mit.edu	37	10	13494598	13494598	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:13494598C>A	ENST00000396900.2	-	7	1123	c.1124G>T	c.(1123-1125)tGg>tTg	p.W375L	BEND7_ENST00000341083.3_Missense_Mutation_p.W323L|BEND7_ENST00000486542.1_5'UTR|BEND7_ENST00000378605.3_Missense_Mutation_p.W336L|BEND7_ENST00000396898.2_Missense_Mutation_p.W388L			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	375	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.					extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						AATCTGTACCCAATCTCTTGG	0.368																																						ENST00000341083.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						c.(967-969)tGg>tTg		BEN domain containing 7							142.0	143.0	142.0					10																	13494598		2203	4300	6503	SO:0001583	missense	222389						protein binding	g.chr10:13494598C>A	BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.1124G>T	10.37:g.13494598C>A	ENSP00000380108:p.Trp375Leu		Somatic				BEND7_ENST00000396900.2_Missense_Mutation_p.W375L|BEND7_ENST00000396898.2_Missense_Mutation_p.W388L|BEND7_ENST00000486542.1_5'UTR|BEND7_ENST00000378605.3_Missense_Mutation_p.W336L	p.W323L	NM_152751.2	NP_689964.2	WXS	Illumina GAIIx	Phase_I	Q8N7W2	BEND7_HUMAN			7	1264	-			375			BEN.		Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Missense_Mutation	SNP	ENST00000396900.2	37	c.968G>T		.	.	.	.	.	.	.	.	.	.	C	28.2	4.903054	0.92035	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000440282;ENST00000396898;ENST00000378605	T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01	5.63	5.63	0.86233	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.65790	0.2725	N	0.08118	0	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.87578	0.998;0.996;0.994	T	0.73839	-0.3856	10	0.87932	D	0	-9.3673	20.0442	0.97604	0.0:1.0:0.0:0.0	.	388;375;323	E5RFC0;Q8N7W2;Q8N7W2-3	.;BEND7_HUMAN;.	L	375;323;79;388;336	ENSP00000380108:W375L;ENSP00000345773:W323L;ENSP00000401256:W79L;ENSP00000380107:W388L;ENSP00000367868:W336L	ENSP00000345773:W323L	W	-	2	0	BEND7	13534604	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.398000	0.79919	2.814000	0.96858	0.655000	0.94253	TGG		0.368	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751		6	131	6	131	---	---	---	---
CSGALNACT2	55454	broad.mit.edu	37	10	43678849	43678849	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:43678849C>A	ENST00000374466.3	+	8	1823	c.1488C>A	c.(1486-1488)ccC>ccA	p.P496P		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	496					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.P496P(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGCTGACCCCCGAGCAGTACC	0.517																																						ENST00000374466.3																			1	Substitution - coding silent(1)	p.P496P(1)	lung(1)	endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1486-1488)ccC>ccA		chondroitin sulfate N-acetylgalactosaminyltransferase 2							135.0	132.0	133.0					10																	43678849		2203	4300	6503	SO:0001819	synonymous_variant	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43678849C>A	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1488C>A	10.37:g.43678849C>A			Somatic					p.P496P	NM_018590.3	NP_061060.3	WXS	Illumina GAIIx	Phase_I	Q8N6G5	CGAT2_HUMAN			8	1823	+			496					B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Silent	SNP	ENST00000374466.3	37	c.1488C>A	CCDS7201.1																																																																																				0.517	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		5	190	5	190	---	---	---	---
SYT15	83849	broad.mit.edu	37	10	46967673	46967673	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:46967673G>T	ENST00000374321.4	-	4	470	c.404C>A	c.(403-405)cCg>cAg	p.P135Q	SYT15_ENST00000374325.3_Missense_Mutation_p.P135Q|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000503753.1_Missense_Mutation_p.P135Q|SYT15_ENST00000374323.4_Missense_Mutation_p.P188Q	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TTTGTCCTCCGGGAACTTGTA	0.627																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374323.4																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(562-564)cCg>cAg		synaptotagmin XV							107.0	123.0	118.0					10																	46967673		2055	4198	6253	SO:0001583	missense	83849					integral to membrane|plasma membrane		g.chr10:46967673G>T	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.404C>A	10.37:g.46967673G>T	ENSP00000363441:p.Pro135Gln		Somatic				SYT15_ENST00000374325.3_Missense_Mutation_p.P135Q|SYT15_ENST00000374321.4_Missense_Mutation_p.P135Q|SYT15_ENST00000503753.1_Missense_Mutation_p.P135Q	p.P188Q			WXS	Illumina GAIIx	Phase_I	Q9BQS2	SYT15_HUMAN			3	1150	-						C2 1.		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	37	c.563C>A	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	.	11.41	1.631856	0.29068	.	.	ENSG00000204176	ENST00000416127;ENST00000374325;ENST00000503753;ENST00000374330;ENST00000374323;ENST00000374321;ENST00000512997	T;T;T;T;T	0.15256	2.44;2.44;2.75;2.69;2.56	4.88	2.01	0.26516	.	0.355948	0.32416	N	0.006131	T	0.23451	0.0567	M	0.65498	2.005	0.09310	N	1	B;P	0.46578	0.317;0.88	B;P	0.48952	0.199;0.596	T	0.06499	-1.0823	10	0.34782	T	0.22	.	8.396	0.32557	0.2628:0.0:0.7372:0.0	.	135;135	Q9BQS2;Q9BQS2-2	SYT15_HUMAN;.	Q	135;135;135;13;188;135;19	ENSP00000363445:P135Q;ENSP00000427607:P135Q;ENSP00000363443:P188Q;ENSP00000363441:P135Q;ENSP00000424803:P19Q	ENSP00000363441:P135Q	P	-	2	0	SYT15	46387679	0.987000	0.35691	0.000000	0.03702	0.042000	0.13812	2.545000	0.45769	0.221000	0.20879	0.650000	0.86243	CCG		0.627	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		6	203	6	203	---	---	---	---
NPY4R	5540	broad.mit.edu	37	10	47087380	47087380	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:47087380G>T	ENST00000395716.1	+	2	682	c.597G>T	c.(595-597)gtG>gtT	p.V199V	NPY4R_ENST00000374312.1_Silent_p.V199V			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	199					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										CGGATAAGGTGGTCTGTACCG	0.582																																						ENST00000374312.1																			0											c.(595-597)gtG>gtT		neuropeptide Y receptor Y4							202.0	164.0	177.0					10																	47087380		2203	4300	6503	SO:0001819	synonymous_variant	5540							g.chr10:47087380G>T		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.597G>T	10.37:g.47087380G>T			Somatic				NPY4R_ENST00000395716.1_Silent_p.V199V	p.V199V	NM_005972.4	NP_005963.4	WXS	Illumina GAIIx	Phase_I					3	1016	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	c.597G>T	CCDS31193.1																																																																																				0.582	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			5	133	5	133	---	---	---	---
ZNF365	22891	broad.mit.edu	37	10	64159350	64159350	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:64159350G>T	ENST00000395254.3	+	5	1306	c.1026G>T	c.(1024-1026)aaG>aaT	p.K342N	ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395255.3_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TCCACCCAAAGGGAAGGAACC	0.562																																						ENST00000395254.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1024-1026)aaG>aaT		zinc finger protein 365							142.0	137.0	139.0					10																	64159350		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64159350G>T	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.1026G>T	10.37:g.64159350G>T	ENSP00000378674:p.Lys342Asn		Somatic				ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000410046.3_Intron	p.K342N	NM_014951.2	NP_055766.2	WXS	Illumina GAIIx	Phase_I	Q70YC4	TALAN_HUMAN			5	1306	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		0						Missense_Mutation	SNP	ENST00000395254.3	37	c.1026G>T	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170968	0.57584	.	.	ENSG00000138311	ENST00000395254	T	0.52983	0.64	5.76	0.811	0.18739	.	.	.	.	.	T	0.49115	0.1538	M	0.62723	1.935	0.80722	D	1	D;D	0.56746	0.977;0.977	P;P	0.51016	0.656;0.656	T	0.42068	-0.9473	9	0.38643	T	0.18	.	7.9506	0.30012	0.5337:0.0:0.4663:0.0	.	342;357	Q70YC5;Q70YC5-4	ZN365_HUMAN;.	N	342	ENSP00000378674:K342N	ENSP00000378674:K342N	K	+	3	2	ZNF365	63829356	1.000000	0.71417	0.998000	0.56505	0.587000	0.36485	0.969000	0.29370	0.098000	0.17522	0.650000	0.86243	AAG		0.562	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		7	219	7	219	---	---	---	---
CEP55	55165	broad.mit.edu	37	10	95259849	95259849	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:95259849G>T	ENST00000371485.3	+	2	345	c.41G>T	c.(40-42)tGg>tTg	p.W14L		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	14					establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				AAAAGTAAGTGGGGATCGAAG	0.318																																						ENST00000371485.3																			0				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13						c.(40-42)tGg>tTg		centrosomal protein 55kDa							110.0	123.0	118.0					10																	95259849		2202	4300	6502	SO:0001583	missense	55165				cell division|mitosis	centriole|cleavage furrow|midbody		g.chr10:95259849G>T	AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"""cancer/testis antigen 111"""	610000	"""chromosome 10 open reading frame 3"""	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.41G>T	10.37:g.95259849G>T	ENSP00000360540:p.Trp14Leu		Somatic					p.W14L	NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	WXS	Illumina GAIIx	Phase_I	Q53EZ4	CEP55_HUMAN			2	345	+		Colorectal(252;0.207)	14					B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	ENST00000371485.3	37	c.41G>T	CCDS7428.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782884	0.31502	.	.	ENSG00000138180	ENST00000371485;ENST00000358339	T	0.14391	2.51	5.24	4.29	0.51040	.	0.071307	0.64402	D	0.000016	T	0.09818	0.0241	L	0.38838	1.175	0.38709	D	0.953172	P	0.37015	0.578	B	0.29267	0.1	T	0.25710	-1.0124	10	0.20519	T	0.43	-5.7409	13.8866	0.63712	0.0:0.0:0.8488:0.1512	.	14	Q53EZ4	CEP55_HUMAN	L	14	ENSP00000360540:W14L	ENSP00000351102:W14L	W	+	2	0	CEP55	95249839	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.958000	0.49145	2.614000	0.88457	0.557000	0.71058	TGG		0.318	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1	NM_018131		7	182	7	182	---	---	---	---
PIK3AP1	118788	broad.mit.edu	37	10	98412456	98412456	+	Splice_Site	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:98412456G>T	ENST00000339364.5	-	4	830	c.711C>A	c.(709-711)ccC>ccA	p.P237P	PIK3AP1_ENST00000371110.2_Splice_Site_p.P59P|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	237	DBB. {ECO:0000255|PROSITE- ProRule:PRU00707}.				negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		ACTACTTACTGGGAGCCTTCA	0.458																																						ENST00000339364.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52						c.(709-711)ccC>ccA		phosphoinositide-3-kinase adaptor protein 1							149.0	137.0	141.0					10																	98412456		2203	4300	6503	SO:0001630	splice_region_variant	118788					cytoplasm|plasma membrane		g.chr10:98412456G>T	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.712+1C>A	10.37:g.98412456G>T			Somatic				PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Splice_Site_p.P59P	p.P237P	NM_152309.2	NP_689522.2	WXS	Illumina GAIIx	Phase_I	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	4	830	-		Colorectal(252;0.0442)	237			DBB.		Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Splice_Site	SNP	ENST00000339364.5	37	c.711C>A	CCDS31259.1																																																																																				0.458	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309	Silent	6	154	6	154	---	---	---	---
PNLIPRP1	5407	broad.mit.edu	37	10	118363546	118363546	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:118363546G>T	ENST00000528052.1	+	11	1139	c.1068G>T	c.(1066-1068)tgG>tgT	p.W356C	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.W356C|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.W356C			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	356	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GTGCAGGCTGGAGATATGGGG	0.438																																						ENST00000528052.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38						c.(1066-1068)tgG>tgT		pancreatic lipase-related protein 1							113.0	99.0	104.0					10																	118363546		2203	4300	6503	SO:0001583	missense	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118363546G>T	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.1068G>T	10.37:g.118363546G>T	ENSP00000433933:p.Trp356Cys		Somatic				PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.W356C|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.W356C	p.W356C			WXS	Illumina GAIIx	Phase_I	P54315	LIPR1_HUMAN		all cancers(201;0.0161)	11	1139	+			356			PLAT.		Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	c.1068G>T	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	-	17.49	3.401788	0.62288	.	.	ENSG00000187021	ENST00000358834;ENST00000528052;ENST00000534537	T;T;T	0.58652	0.32;0.32;0.32	5.97	5.97	0.96955	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.000000	0.64402	D	0.000001	T	0.80586	0.4651	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.82731	-0.0312	10	0.87932	D	0	-8.7056	19.22	0.93793	0.0:0.0:1.0:0.0	.	356	P54315	LIPR1_HUMAN	C	356	ENSP00000351695:W356C;ENSP00000433933:W356C;ENSP00000434159:W356C	ENSP00000351695:W356C	W	+	3	0	PNLIPRP1	118353536	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.623000	0.74238	2.828000	0.97474	0.645000	0.84053	TGG		0.438	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		4	29	4	29	---	---	---	---
OAT	4942	broad.mit.edu	37	10	126091508	126091508	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr10:126091508C>A	ENST00000368845.5	-	7	980	c.888G>T	c.(886-888)ggG>ggT	p.G296G	OAT_ENST00000467675.1_5'UTR|OAT_ENST00000539214.1_Silent_p.G158G	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	296					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170)			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)	GGTATAAGCCCCCAGAAAGGG	0.408																																						ENST00000368845.5																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(886-888)ggG>ggT		ornithine aminotransferase	L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)						106.0	119.0	115.0					10																	126091508		2203	4300	6503	SO:0001819	synonymous_variant	4942				cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding	g.chr10:126091508C>A	BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	2.6.1.13		8091	protein-coding gene	gene with protein product	"""Ornithine aminotransferase"", ""ornithine aminotransferase precursor"", ""gyrate atrophy"""	613349				1682785	Standard	NM_000274		Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.888G>T	10.37:g.126091508C>A			Somatic				OAT_ENST00000539214.1_Silent_p.G158G|OAT_ENST00000467675.1_5'UTR	p.G296G	NM_000274.3	NP_000265.1	WXS	Illumina GAIIx	Phase_I	P04181	OAT_HUMAN			7	980	-		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)	296					D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Silent	SNP	ENST00000368845.5	37	c.888G>T	CCDS7639.1																																																																																				0.408	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050863.1	NM_000274		7	159	7	159	---	---	---	---
APBB1	322	broad.mit.edu	37	11	6423820	6423820	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:6423820C>A	ENST00000609360.1	-	7	1339	c.1240G>T	c.(1240-1242)Ggg>Tgg	p.G414W	APBB1_ENST00000608704.1_Missense_Mutation_p.G155W|APBB1_ENST00000530885.1_Missense_Mutation_p.G194W|APBB1_ENST00000609331.1_Missense_Mutation_p.G179W|APBB1_ENST00000299402.6_Missense_Mutation_p.G414W|APBB1_ENST00000608645.1_Missense_Mutation_p.G155W|APBB1_ENST00000608655.1_Missense_Mutation_p.G194W|APBB1_ENST00000311051.3_Missense_Mutation_p.G414W|APBB1_ENST00000608394.1_Missense_Mutation_p.G155W|APBB1_ENST00000389906.2_Missense_Mutation_p.G414W|APBB1_ENST00000529519.1_Intron	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	414	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CCCCAGCCCCCAGACATGGGG	0.582																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(1240-1242)Ggg>Tgg		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)							64.0	66.0	65.0					11																	6423820		2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6423820C>A	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1240G>T	11.37:g.6423820C>A	ENSP00000477213:p.Gly414Trp		Somatic				APBB1_ENST00000530885.1_Missense_Mutation_p.G194W|APBB1_ENST00000608394.1_Missense_Mutation_p.G155W|APBB1_ENST00000311051.3_Missense_Mutation_p.G414W|APBB1_ENST00000608655.1_Missense_Mutation_p.G194W|APBB1_ENST00000529519.1_Intron|APBB1_ENST00000608704.1_Missense_Mutation_p.G155W|APBB1_ENST00000609331.1_Missense_Mutation_p.G179W|APBB1_ENST00000609360.1_Missense_Mutation_p.G414W|APBB1_ENST00000299402.6_Missense_Mutation_p.G414W|APBB1_ENST00000608645.1_Missense_Mutation_p.G155W	p.G414W			WXS	Illumina GAIIx	Phase_I	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	7	1339	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	414			PID 1.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.1240G>T		.	.	.	.	.	.	.	.	.	.	C	22.3	4.267587	0.80469	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	4.5	4.5	0.54988	.	0.000000	0.47852	D	0.000207	T	0.39911	0.1096	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.953;1.0;1.0;0.999	T	0.22591	-1.0212	10	0.87932	D	0	-14.1676	12.8696	0.57957	0.0:1.0:0.0:0.0	.	263;179;194;414	B7Z1H5;F5H1C5;B7Z2Y0;O00213-2	.;.;.;.	W	414;414;414;263;155;179;194;155	ENSP00000299402:G414W;ENSP00000311912:G414W;ENSP00000374556:G414W;ENSP00000433338:G194W;ENSP00000437114:G155W	ENSP00000299402:G414W	G	-	1	0	APBB1	6380396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.807000	0.69157	2.497000	0.84241	0.591000	0.81541	GGG		0.582	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		6	109	6	109	---	---	---	---
PPFIBP2	8495	broad.mit.edu	37	11	7656792	7656792	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:7656792G>T	ENST00000299492.4	+	14	1592	c.1204G>T	c.(1204-1206)Ggg>Tgg	p.G402W	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.G290W|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.G244W|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.G259W	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	402					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GTGTATGGATGGGAACCAGCC	0.423																																						ENST00000299492.4																			0				breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1204-1206)Ggg>Tgg		PTPRF interacting protein, binding protein 2 (liprin beta 2)							210.0	178.0	189.0					11																	7656792		2201	4296	6497	SO:0001583	missense	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7656792G>T	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1204G>T	11.37:g.7656792G>T	ENSP00000299492:p.Gly402Trp		Somatic				PPFIBP2_ENST00000528883.1_Missense_Mutation_p.G290W|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.G259W|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.G244W	p.G402W	NM_003621.3	NP_003612	WXS	Illumina GAIIx	Phase_I	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	14	1592	+			402					B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	c.1204G>T	CCDS31419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.64|12.64	1.998212|1.998212	0.35226|0.35226	.|.	.|.	ENSG00000166387|ENSG00000166387	ENST00000299492;ENST00000533792;ENST00000537467;ENST00000541115;ENST00000528883;ENST00000530181;ENST00000530081|ENST00000534409	T;T;T;T|.	0.32515|.	1.88;1.46;1.87;1.45|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.360806|.	0.26338|.	N|.	0.024960|.	T|T	0.57844|0.57844	0.2081|0.2081	L|L	0.36672|0.36672	1.1|1.1	0.37004|0.37004	D|D	0.895395|0.895395	P;P;P;P;P;P|.	0.50617|.	0.88;0.856;0.937;0.856;0.856;0.67|.	B;B;B;B;B;B|.	0.44085|.	0.151;0.168;0.44;0.168;0.253;0.224|.	T|T	0.59112|0.59112	-0.7515|-0.7515	10|5	0.72032|.	D|.	0.01|.	-5.3197|-5.3197	14.9943|14.9943	0.71418|0.71418	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	290;290;325;244;259;402|.	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30|.	.;.;.;.;.;LIPB2_HUMAN|.	W|L	402;244;244;325;290;259;46|81	ENSP00000299492:G402W;ENSP00000436498:G244W;ENSP00000435469:G290W;ENSP00000437321:G259W|.	ENSP00000299492:G402W|.	G|W	+|+	1|2	0|0	PPFIBP2|PPFIBP2	7613368|7613368	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.047000|0.047000	0.14425|0.14425	3.611000|3.611000	0.54132|0.54132	2.687000|2.687000	0.91594|0.91594	0.462000|0.462000	0.41574|0.41574	GGG|TGG		0.423	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		5	96	5	96	---	---	---	---
HIPK3	10114	broad.mit.edu	37	11	33374937	33374937	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:33374937C>A	ENST00000303296.4	+	17	3776	c.3471C>A	c.(3469-3471)ccC>ccA	p.P1157P	HIPK3_ENST00000456517.1_Silent_p.P1136P|HIPK3_ENST00000525975.1_Silent_p.P1136P|AL122015.1_ENST00000411202.1_RNA|HIPK3_ENST00000379016.3_Silent_p.P1136P	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1157					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TCTCCCATCCCAGTGGCATAG	0.502																																						ENST00000303296.4																			0				endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						c.(3469-3471)ccC>ccA		homeodomain interacting protein kinase 3							174.0	150.0	158.0					11																	33374937		2202	4298	6500	SO:0001819	synonymous_variant	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33374937C>A	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.3471C>A	11.37:g.33374937C>A			Somatic				HIPK3_ENST00000525975.1_Silent_p.P1136P|HIPK3_ENST00000456517.1_Silent_p.P1136P|HIPK3_ENST00000379016.3_Silent_p.P1136P	p.P1157P	NM_005734.3	NP_005725.3	WXS	Illumina GAIIx	Phase_I	Q9H422	HIPK3_HUMAN			17	3776	+			1157					O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Silent	SNP	ENST00000303296.4	37	c.3471C>A	CCDS7884.1																																																																																				0.502	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		6	162	6	162	---	---	---	---
TMEM109	79073	broad.mit.edu	37	11	60688429	60688429	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:60688429C>A	ENST00000227525.3	+	3	712	c.309C>A	c.(307-309)gcC>gcA	p.A103A	RP11-881M11.4_ENST00000543907.1_RNA|TMEM109_ENST00000536171.1_Silent_p.A103A	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	103					cellular response to gamma radiation (GO:0071480)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell death (GO:0060548)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						CTGGGATCGCCGCACAGCTGC	0.537																																						ENST00000227525.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						c.(307-309)gcC>gcA		transmembrane protein 109							247.0	206.0	220.0					11																	60688429		2203	4299	6502	SO:0001819	synonymous_variant	79073					integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane		g.chr11:60688429C>A		CCDS7996.1	11q12.2	2005-12-22				ENSG00000110108			28771	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_024092		Approved	MGC5508	uc001nqg.3	Q9BVC6		ENST00000227525.3:c.309C>A	11.37:g.60688429C>A			Somatic				TMEM109_ENST00000536171.1_Silent_p.A103A|RP11-881M11.4_ENST00000543907.1_RNA	p.A103A	NM_024092.2	NP_076997.1	WXS	Illumina GAIIx	Phase_I	Q9BVC6	TM109_HUMAN			3	712	+			103						Silent	SNP	ENST00000227525.3	37	c.309C>A	CCDS7996.1																																																																																				0.537	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396343.1	NM_024092		5	178	5	178	---	---	---	---
CHRM1	1128	broad.mit.edu	37	11	62677296	62677296	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:62677296C>A	ENST00000306960.3	-	2	1818	c.1277G>T	c.(1276-1278)cGg>cTg	p.R426L	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	426					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cognition (GO:0050890)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of ion transport (GO:0043270)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of locomotion (GO:0040012)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			large_intestine(5)|lung(3)|stomach(1)	9					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Benzatropine(DB00245)|Biperiden(DB00810)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbachol(DB00411)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clidinium(DB00771)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Doxylamine(DB00366)|Escitalopram(DB01175)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Flupentixol(DB00875)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Trospium(DB00209)|Ziprasidone(DB00246)	AAAGGTGTCCCGGAAGGCTTT	0.627																																						ENST00000306960.3																			0				large_intestine(5)|lung(3)|stomach(1)	9						c.(1276-1278)cGg>cTg		cholinergic receptor, muscarinic 1	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)						161.0	157.0	158.0					11																	62677296		2201	4298	6499	SO:0001583	missense	1128				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding	g.chr11:62677296C>A	Y00508	CCDS8040.1	11q12-q13	2012-08-08				ENSG00000168539		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1950	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 1"""	118510					Standard	NM_000738		Approved		uc001nwi.3	P11229		ENST00000306960.3:c.1277G>T	11.37:g.62677296C>A	ENSP00000306490:p.Arg426Leu		Somatic				AP000438.2_ENST00000543624.1_RNA	p.R426L	NM_000738.2	NP_000729.2	WXS	Illumina GAIIx	Phase_I	P11229	ACM1_HUMAN			2	1818	-			426					Q96RH1	Missense_Mutation	SNP	ENST00000306960.3	37	c.1277G>T	CCDS8040.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385028	0.61956	.	.	ENSG00000168539	ENST00000306960;ENST00000543973	T;T	0.57595	0.39;0.39	3.98	3.98	0.46160	.	0.792889	0.10240	N	0.698549	T	0.56124	0.1964	L	0.57536	1.79	0.36998	D	0.895127	D	0.57257	0.979	P	0.46110	0.504	T	0.65656	-0.6115	10	0.87932	D	0	-13.9234	13.6178	0.62120	0.0:1.0:0.0:0.0	.	426	P11229	ACM1_HUMAN	L	426	ENSP00000306490:R426L;ENSP00000441188:R426L	ENSP00000306490:R426L	R	-	2	0	CHRM1	62433872	0.330000	0.24705	1.000000	0.80357	0.998000	0.95712	0.898000	0.28404	2.028000	0.59812	0.561000	0.74099	CGG		0.627	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396178.1	NM_000738		5	203	5	203	---	---	---	---
ATG2A	23130	broad.mit.edu	37	11	64677317	64677317	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:64677317G>T	ENST00000377264.3	-	14	2055	c.1943C>A	c.(1942-1944)cCc>cAc	p.P648H	ATG2A_ENST00000421419.2_Missense_Mutation_p.P648H	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	648					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GTCGGCAATGGGGAAGCGCAG	0.701																																						ENST00000421419.2																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1942-1944)cCc>cAc		autophagy related 2A							24.0	30.0	28.0					11																	64677317		2200	4288	6488	SO:0001583	missense	23130						protein binding	g.chr11:64677317G>T		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1943C>A	11.37:g.64677317G>T	ENSP00000366475:p.Pro648His		Somatic				ATG2A_ENST00000377264.3_Missense_Mutation_p.P648H	p.P648H			WXS	Illumina GAIIx	Phase_I	Q2TAZ0	ATG2A_HUMAN			14	2057	-			648					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.1943C>A	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097909	0.76870	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.64618	-0.11;-0.11	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.74673	0.3747	L	0.58101	1.795	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.76780	-0.2833	10	0.87932	D	0	.	13.2881	0.60255	0.0:0.0:1.0:0.0	.	648	Q2TAZ0	ATG2A_HUMAN	H	648	ENSP00000410522:P648H;ENSP00000366475:P648H	ENSP00000366475:P648H	P	-	2	0	ATG2A	64433893	1.000000	0.71417	0.986000	0.45419	0.681000	0.39784	6.113000	0.71553	2.587000	0.87381	0.561000	0.74099	CCC		0.701	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		5	74	5	74	---	---	---	---
ZFPL1	7542	broad.mit.edu	37	11	64853980	64853980	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:64853980C>A	ENST00000294258.3	+	4	460	c.308C>A	c.(307-309)cCc>cAc	p.P103H	CDCA5_ENST00000404147.3_5'Flank|CDCA5_ENST00000275517.3_5'Flank|AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	103					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						TGCAATGGCCCCATCTTCCCC	0.647																																						ENST00000294258.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						c.(307-309)cCc>cAc		zinc finger protein-like 1							101.0	108.0	106.0					11																	64853980		2201	4297	6498	SO:0001583	missense	7542				regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding	g.chr11:64853980C>A		CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"""zinc-finger protein in MEN1 region"""					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.308C>A	11.37:g.64853980C>A	ENSP00000294258:p.Pro103His		Somatic					p.P103H	NM_006782.3	NP_006773.2	WXS	Illumina GAIIx	Phase_I	O95159	ZFPL1_HUMAN			4	460	+			103					A8K7E9|O14616|Q9UID0	Missense_Mutation	SNP	ENST00000294258.3	37	c.308C>A	CCDS8092.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259189	0.80246	.	.	ENSG00000162300	ENST00000294258;ENST00000526334;ENST00000526945;ENST00000532200	D;D;D	0.96265	-3.96;-3.96;-3.96	5.49	5.49	0.81192	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.98077	0.9366	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98072	1.0399	10	0.44086	T	0.13	-27.4161	16.8521	0.85996	0.0:1.0:0.0:0.0	.	103	O95159	ZFPL1_HUMAN	H	103;103;97;103	ENSP00000294258:P103H;ENSP00000434454:P103H;ENSP00000437090:P103H	ENSP00000294258:P103H	P	+	2	0	ZFPL1	64610556	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	6.990000	0.76225	2.578000	0.87016	0.462000	0.41574	CCC		0.647	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385196.1	NM_006782		7	184	7	184	---	---	---	---
TCIRG1	10312	broad.mit.edu	37	11	67817721	67817721	+	Splice_Site	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:67817721C>A	ENST00000265686.3	+	18	2344	c.2236C>A	c.(2236-2238)Cag>Aag	p.Q746K	RP11-802E16.3_ENST00000529934.1_RNA|RP11-802E16.3_ENST00000534517.1_RNA|RP11-802E16.3_ENST00000526897.1_RNA|TCIRG1_ENST00000532635.1_Splice_Site_p.Q530K	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	746					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GGCCCACGCCCGTGAGTGACC	0.672																																						ENST00000265686.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16	GRCh37	CS030123	TCIRG1	S		c.(2236-2238)Cag>Aag		T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3							68.0	67.0	67.0					11																	67817721		2200	4293	6493	SO:0001630	splice_region_variant	10312				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity	g.chr11:67817721C>A	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"""ATPases / V-type"""	11647	protein-coding gene	gene with protein product	"""T-cell immune response cDNA 7"""	604592	"""T-cell, immune regulator 1"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"""			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.2236+1C>A	11.37:g.67817721C>A			Somatic				TCIRG1_ENST00000532635.1_Splice_Site_p.Q530K	p.Q746K	NM_006019.3	NP_006010.2	WXS	Illumina GAIIx	Phase_I	Q13488	VPP3_HUMAN			18	2344	+			746					O75877|Q8WVC5	Splice_Site	SNP	ENST00000265686.3	37	c.2236C>A	CCDS8177.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302763	0.81136	.	.	ENSG00000110719	ENST00000265686;ENST00000532635	D;D	0.87179	-2.22;-2.22	3.78	3.78	0.43462	.	0.061961	0.64402	D	0.000003	D	0.94909	0.8354	H	0.95780	3.72	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	D	0.95970	0.8969	10	0.72032	D	0.01	-30.1717	13.524	0.61584	0.0:1.0:0.0:0.0	.	746	Q13488	VPP3_HUMAN	K	746;530	ENSP00000265686:Q746K;ENSP00000434407:Q530K	ENSP00000265686:Q746K	Q	+	1	0	TCIRG1	67574297	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	4.487000	0.60293	2.120000	0.65058	0.462000	0.41574	CAG		0.672	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1	NM_006019	Missense_Mutation	5	122	5	122	---	---	---	---
HEPHL1	341208	broad.mit.edu	37	11	93796817	93796817	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:93796817C>A	ENST00000315765.9	+	3	567	c.559C>A	c.(559-561)Cat>Aat	p.H187N		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	187	Plastocyanin-like 1.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CTGGGTGTACCATTCGCACAT	0.542																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(559-561)Cat>Aat		hephaestin-like 1							106.0	106.0	106.0					11																	93796817		1977	4164	6141	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93796817C>A	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.559C>A	11.37:g.93796817C>A	ENSP00000313699:p.His187Asn		Somatic					p.H187N	NM_001098672.1	NP_001092142.1	WXS	Illumina GAIIx	Phase_I	Q6MZM0	HPHL1_HUMAN			3	567	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	187			Plastocyanin-like 1.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.559C>A	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	C	31	5.064979	0.93898	.	.	ENSG00000181333	ENST00000315765	D	0.99816	-6.91	5.42	5.42	0.78866	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99914	0.9959	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96070	0.9045	10	0.87932	D	0	.	19.2305	0.93836	0.0:1.0:0.0:0.0	.	187	Q6MZM0	HPHL1_HUMAN	N	187	ENSP00000313699:H187N	ENSP00000313699:H187N	H	+	1	0	HEPHL1	93436465	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.832000	0.69337	2.549000	0.85964	0.655000	0.94253	CAT		0.542	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		21	112	21	112	---	---	---	---
PGR	5241	broad.mit.edu	37	11	100962584	100962584	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:100962584C>A	ENST00000325455.5	-	3	3266	c.1813G>T	c.(1813-1815)Gga>Tga	p.G605*	PGR_ENST00000534013.1_Nonsense_Mutation_p.G11*|PGR_ENST00000263463.5_Nonsense_Mutation_p.G605*	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	605					cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TCATTTCTTCCAGCACATAAG	0.393																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(1813-1815)Gga>Tga		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						81.0	74.0	76.0					11																	100962584		2203	4299	6502	SO:0001587	stop_gained	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100962584C>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1813G>T	11.37:g.100962584C>A	ENSP00000325120:p.Gly605*		Somatic				PGR_ENST00000263463.5_Nonsense_Mutation_p.G605*|PGR_ENST00000534013.1_Nonsense_Mutation_p.G11*	p.G605*	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	WXS	Illumina GAIIx	Phase_I	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	3	3266	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	605					A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Nonsense_Mutation	SNP	ENST00000325455.5	37	c.1813G>T	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	C	40	8.123435	0.98665	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463;ENST00000537623	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	20.0833	0.97789	0.0:1.0:0.0:0.0	.	.	.	.	X	605;11;605;605	.	ENSP00000263463:G605X	G	-	1	0	PGR	100467794	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.617000	0.83032	2.756000	0.94617	0.655000	0.94253	GGA		0.393	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			4	26	4	26	---	---	---	---
MMP13	4322	broad.mit.edu	37	11	102820888	102820888	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:102820888G>T	ENST00000260302.3	-	6	896	c.868C>A	c.(868-870)Ctt>Att	p.L290I	MMP13_ENST00000340273.4_Missense_Mutation_p.L290I	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	290	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	ATGGCATCAAGGGATAAGGAA	0.433																																						ENST00000260302.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(868-870)Ctt>Att		matrix metallopeptidase 13 (collagenase 3)							328.0	297.0	308.0					11																	102820888		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102820888G>T	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.868C>A	11.37:g.102820888G>T	ENSP00000260302:p.Leu290Ile		Somatic				MMP13_ENST00000340273.4_Missense_Mutation_p.L290I	p.L290I	NM_002427.3	NP_002418.1	WXS	Illumina GAIIx	Phase_I	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	6	896	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	290			Hemopexin-like 1.		A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.868C>A	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578299	0.45902	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.01647	4.71;4.71	5.77	4.84	0.62591	Hemopexin/matrixin (2);	0.366010	0.32055	N	0.006648	T	0.01976	0.0062	N	0.16130	0.375	0.31482	N	0.667005	B	0.16603	0.018	B	0.31614	0.133	T	0.18085	-1.0348	10	0.52906	T	0.07	.	13.322	0.60438	0.0:0.0:0.6044:0.3955	.	290	P45452	MMP13_HUMAN	I	290	ENSP00000260302:L290I;ENSP00000339672:L290I	ENSP00000260302:L290I	L	-	1	0	MMP13	102326098	0.955000	0.32602	1.000000	0.80357	0.998000	0.95712	0.937000	0.28951	1.388000	0.46506	0.650000	0.86243	CTT		0.433	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		7	226	7	226	---	---	---	---
SIK3	23387	broad.mit.edu	37	11	116733016	116733016	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:116733016C>A	ENST00000292055.4	-	16	1848	c.1813G>T	c.(1813-1815)Ggg>Tgg	p.G605W	SIK3_ENST00000446921.2_Missense_Mutation_p.G663W|SIK3_ENST00000542607.1_Missense_Mutation_p.G605W|SIK3_ENST00000434315.2_Missense_Mutation_p.G504W|SIK3_ENST00000375288.1_Silent_p.T36T|SIK3_ENST00000375300.1_Missense_Mutation_p.G663W|SIK3_ENST00000488337.1_5'UTR	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	605	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ATCTGCCCCCCGTACATCTTC	0.493																																						ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(1987-1989)Ggg>Tgg		SIK family kinase 3							173.0	167.0	169.0					11																	116733016		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116733016C>A	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.1813G>T	11.37:g.116733016C>A	ENSP00000292055:p.Gly605Trp		Somatic				SIK3_ENST00000292055.4_Missense_Mutation_p.G605W|SIK3_ENST00000375288.1_Silent_p.T36T|SIK3_ENST00000542607.1_Missense_Mutation_p.G605W|SIK3_ENST00000446921.2_Missense_Mutation_p.G663W|SIK3_ENST00000434315.2_Missense_Mutation_p.G504W|SIK3_ENST00000488337.1_5'UTR	p.G663W			WXS	Illumina GAIIx	Phase_I	Q9Y2K2	SIK3_HUMAN			16	1992	-			605			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.1987G>T	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	28.7|28.7	4.941880|4.941880	0.92526|0.92526	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315|ENST00000445177;ENST00000446921	T;T;T;T|.	0.72725|.	-0.64;-0.68;-0.65;-0.25|.	5.95|5.95	5.95|5.95	0.96441|0.96441	Protein kinase-like domain (1);|.	0.000000|.	0.42294|.	U|.	0.000740|.	T|T	0.60170|0.60170	0.2248|0.2248	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.80764|.	0.994;0.992;0.992|.	T|T	0.51490|0.51490	-0.8699|-0.8699	10|5	0.87932|.	D|.	0|.	.|.	20.3645|20.3645	0.98876|0.98876	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	605;504;605|.	A1A5A8;A1A5A9;Q9Y2K2|.	.;.;SIK3_HUMAN|.	W|L	663;605;605;504|704;627	ENSP00000364449:G663W;ENSP00000292055:G605W;ENSP00000438108:G605W;ENSP00000415873:G504W|.	ENSP00000292055:G605W|.	G|R	-|-	1|2	0|0	SIK3|SIK3	116238226|116238226	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.652000|5.652000	0.67959|0.67959	2.821000|2.821000	0.97095|0.97095	0.561000|0.561000	0.74099|0.74099	GGG|CGG		0.493	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		6	198	6	198	---	---	---	---
RNF214	257160	broad.mit.edu	37	11	117109673	117109673	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:117109673C>A	ENST00000531452.1	+	3	510	c.464C>A	c.(463-465)cCa>cAa	p.P155Q	RNF214_ENST00000531287.1_Intron|RNF214_ENST00000300650.4_Missense_Mutation_p.P155Q|RNF214_ENST00000530849.1_Intron	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	155							zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GAGAAATCCCCACAAACCTCC	0.522																																						ENST00000531452.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(463-465)cCa>cAa		ring finger protein 214							53.0	55.0	54.0					11																	117109673		1948	4152	6100	SO:0001583	missense	257160						zinc ion binding	g.chr11:117109673C>A	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"""RING-type (C3HC4) zinc fingers"""	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.464C>A	11.37:g.117109673C>A	ENSP00000431643:p.Pro155Gln		Somatic				RNF214_ENST00000530849.1_Intron|RNF214_ENST00000531287.1_Intron|RNF214_ENST00000300650.4_Missense_Mutation_p.P155Q	p.P155Q	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	WXS	Illumina GAIIx	Phase_I	Q8ND24	RN214_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	3	510	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	155					B2RUW0|B4DTD1	Missense_Mutation	SNP	ENST00000531452.1	37	c.464C>A	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688768	0.68271	.	.	ENSG00000167257	ENST00000531452;ENST00000300650	T;T	0.37584	1.19;1.19	5.71	3.63	0.41609	.	0.633814	0.14526	N	0.314182	T	0.21427	0.0516	N	0.03115	-0.41	0.31953	N	0.609442	D	0.54207	0.965	P	0.51355	0.667	T	0.05733	-1.0867	9	.	.	.	-5.3925	5.48	0.16719	0.0:0.7293:0.0:0.2707	.	155	Q8ND24	RN214_HUMAN	Q	155	ENSP00000431643:P155Q;ENSP00000300650:P155Q	.	P	+	2	0	RNF214	116614883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.720000	0.38022	1.421000	0.47157	0.591000	0.81541	CCA		0.522	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239		6	71	6	71	---	---	---	---
TECTA	7007	broad.mit.edu	37	11	120996467	120996467	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:120996467C>A	ENST00000392793.1	+	8	1931	c.1660C>A	c.(1660-1662)Ctg>Atg	p.L554M	TECTA_ENST00000264037.2_Missense_Mutation_p.L554M			O75443	TECTA_HUMAN	tectorin alpha	554					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGTGTATGACCTGTGCAGTGT	0.577																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(1660-1662)Ctg>Atg		tectorin alpha							114.0	107.0	109.0					11																	120996467		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120996467C>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1660C>A	11.37:g.120996467C>A	ENSP00000376543:p.Leu554Met		Somatic				TECTA_ENST00000264037.2_Missense_Mutation_p.L554M	p.L554M			WXS	Illumina GAIIx	Phase_I	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	8	1931	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	554						Missense_Mutation	SNP	ENST00000392793.1	37	c.1660C>A	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998279	0.35226	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.77229	-1.08;-1.08	4.91	3.01	0.34805	Uncharacterised domain, cysteine-rich (2);	0.068304	0.64402	D	0.000014	T	0.62060	0.2397	N	0.11870	0.19	0.34897	D	0.746147	P	0.39737	0.685	B	0.41412	0.356	T	0.66424	-0.5927	10	0.30078	T	0.28	.	11.6328	0.51185	0.0:0.8519:0.0:0.1481	.	554	O75443	TECTA_HUMAN	M	554	ENSP00000376543:L554M;ENSP00000264037:L554M	ENSP00000264037:L554M	L	+	1	2	TECTA	120501677	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.633000	0.46519	0.587000	0.29643	0.563000	0.77884	CTG		0.577	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		6	144	6	144	---	---	---	---
C11orf63	79864	broad.mit.edu	37	11	122774677	122774677	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:122774677C>A	ENST00000531316.1	+	2	481	c.389C>A	c.(388-390)cCg>cAg	p.P130Q	C11orf63_ENST00000227349.2_Missense_Mutation_p.P130Q|C11orf63_ENST00000307257.6_Missense_Mutation_p.P130Q			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	130					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CGCTATGACCCGAACTGGAAG	0.478																																						ENST00000227349.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(388-390)cCg>cAg		chromosome 11 open reading frame 63							142.0	160.0	154.0					11																	122774677		2202	4299	6501	SO:0001583	missense	79864							g.chr11:122774677C>A	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.389C>A	11.37:g.122774677C>A	ENSP00000431669:p.Pro130Gln		Somatic				C11orf63_ENST00000307257.6_Missense_Mutation_p.P130Q|C11orf63_ENST00000531316.1_Missense_Mutation_p.P130Q	p.P130Q	NM_024806.2	NP_079082.2	WXS	Illumina GAIIx	Phase_I	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	3	686	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	130					A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	c.389C>A	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428567	0.83667	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.68025	-0.3;-0.3	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000003	D	0.82300	0.5007	M	0.74881	2.28	0.52099	D	0.999941	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83667	0.0164	10	0.87932	D	0	-15.7104	18.0713	0.89407	0.0:1.0:0.0:0.0	.	130;130	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	Q	130	ENSP00000227349:P130Q;ENSP00000431669:P130Q	ENSP00000227349:P130Q	P	+	2	0	C11orf63	122279887	0.997000	0.39634	0.975000	0.42487	0.837000	0.47467	4.630000	0.61297	2.706000	0.92434	0.655000	0.94253	CCG		0.478	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		8	296	8	296	---	---	---	---
NCAPD3	23310	broad.mit.edu	37	11	134046279	134046279	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:134046279C>A	ENST00000534548.2	-	24	3088	c.3024G>T	c.(3022-3024)gaG>gaT	p.E1008D	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1008					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCACAAATTCCTCCTGTGCAG	0.547																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3022-3024)gaG>gaT		non-SMC condensin II complex, subunit D3							99.0	96.0	97.0					11																	134046279		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134046279C>A	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3024G>T	11.37:g.134046279C>A	ENSP00000433681:p.Glu1008Asp		Somatic					p.E1008D	NM_015261.2	NP_056076.1	WXS	Illumina GAIIx	Phase_I	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	24	3088	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1008					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.3024G>T	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809118	0.70797	.	.	ENSG00000151503	ENST00000534548;ENST00000530396	T;T	0.48836	0.8;0.8	6.17	-8.07	0.01098	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67211	0.2869	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78994	-0.1984	10	0.66056	D	0.02	-32.416	18.8763	0.92337	0.0:0.7188:0.0:0.2812	.	1008	P42695	CNDD3_HUMAN	D	1008;44	ENSP00000433681:E1008D;ENSP00000435173:E44D	ENSP00000435173:E44D	E	-	3	2	NCAPD3	133551489	0.608000	0.26966	0.890000	0.34922	0.494000	0.33585	-0.148000	0.10219	-1.172000	0.02762	-1.105000	0.02106	GAG		0.547	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		5	82	5	82	---	---	---	---
ITFG2	55846	broad.mit.edu	37	12	2921985	2921985	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:2921985C>A	ENST00000228799.2	+	1	198	c.59C>A	c.(58-60)cCg>cAg	p.P20Q	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.6_ENST00000547794.1_RNA|ITFG2_ENST00000542548.1_5'UTR|ITFG2_ENST00000419778.2_5'UTR|RP4-816N1.6_ENST00000552469.1_RNA	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	20					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGCCTCTTCCCGCACGCAATC	0.607																																						ENST00000228799.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19						c.(58-60)cCg>cAg		integrin alpha FG-GAP repeat containing 2							99.0	93.0	95.0					12																	2921985		2203	4300	6503	SO:0001583	missense	55846							g.chr12:2921985C>A	AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.59C>A	12.37:g.2921985C>A	ENSP00000228799:p.Pro20Gln		Somatic				ITFG2_ENST00000542548.1_5'UTR|RP4-816N1.6_ENST00000547834.1_RNA|ITFG2_ENST00000419778.2_5'UTR	p.P20Q	NM_018463.3	NP_060933.3	WXS	Illumina GAIIx	Phase_I	Q969R8	ITFG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		1	198	+			20					A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Missense_Mutation	SNP	ENST00000228799.2	37	c.59C>A	CCDS8513.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.396747	0.62177	.	.	ENSG00000111203	ENST00000228799	T	0.68479	-0.33	5.36	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.983	T	0.72110	-0.4389	10	0.23302	T	0.38	-8.0114	12.9905	0.58616	0.0:0.9224:0.0:0.0776	.	20;20	Q969R8;Q6PKU5	ITFG2_HUMAN;.	Q	20	ENSP00000228799:P20Q	ENSP00000228799:P20Q	P	+	2	0	ITFG2	2792246	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	7.008000	0.76341	1.280000	0.44463	0.650000	0.86243	CCG		0.607	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1	NM_018463		5	154	5	154	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6103761	6103761	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:6103761C>A	ENST00000261405.5	-	36	6330	c.6076G>T	c.(6076-6078)Ggg>Tgg	p.G2026W		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2026	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACCAGTCTCCCATTCACCGTC	0.473																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(6076-6078)Ggg>Tgg		von Willebrand factor	Antihemophilic Factor(DB00025)						168.0	126.0	140.0					12																	6103761		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6103761C>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.6076G>T	12.37:g.6103761C>A	ENSP00000261405:p.Gly2026Trp		Somatic					p.G2026W	NM_000552.3	NP_000543	WXS	Illumina GAIIx	Phase_I	P04275	VWF_HUMAN			36	6330	-			2026			VWFD 4.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.6076G>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.224676	0.39300	.	.	ENSG00000110799	ENST00000261405	T	0.63255	-0.03	4.91	4.91	0.64330	von Willebrand factor, type D domain (3);	0.000000	0.44902	D	0.000405	D	0.82527	0.5056	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86515	0.1812	10	0.87932	D	0	.	17.1147	0.86685	0.0:1.0:0.0:0.0	.	2026	P04275	VWF_HUMAN	W	2026	ENSP00000261405:G2026W	ENSP00000261405:G2026W	G	-	1	0	VWF	5974022	1.000000	0.71417	0.997000	0.53966	0.092000	0.18411	4.260000	0.58835	2.288000	0.76882	0.655000	0.94253	GGG		0.473	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		5	68	5	68	---	---	---	---
USP5	8078	broad.mit.edu	37	12	6961392	6961392	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:6961392C>A	ENST00000229268.8	+	1	101	c.49C>A	c.(49-51)Cgg>Agg	p.R17R	CDCA3_ENST00000540683.1_5'Flank|USP5_ENST00000389231.5_Silent_p.R17R|CDCA3_ENST00000538862.2_5'Flank|CDCA3_ENST00000535406.1_5'Flank|CDCA3_ENST00000422785.3_5'Flank|CDCA3_ENST00000229265.6_5'Flank	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	17					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						ACCGACGATCCGGGTCCCTAA	0.642																																						ENST00000229268.8																			0				breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						c.(49-51)Cgg>Agg		ubiquitin specific peptidase 5 (isopeptidase T)							106.0	86.0	93.0					12																	6961392		2203	4300	6503	SO:0001819	synonymous_variant	8078				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6961392C>A	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.49C>A	12.37:g.6961392C>A			Somatic				USP5_ENST00000389231.5_Silent_p.R17R	p.R17R	NM_001098536.1	NP_001092006.1	WXS	Illumina GAIIx	Phase_I	P45974	UBP5_HUMAN			1	101	+			17					D3DUS7|D3DUS8|Q96J22	Silent	SNP	ENST00000229268.8	37	c.49C>A	CCDS41743.1																																																																																				0.642	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			4	36	4	36	---	---	---	---
GPD1	2819	broad.mit.edu	37	12	50497833	50497833	+	De_novo_Start_InFrame	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:50497833C>A	ENST00000301149.3	+	0	232				GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_De_novo_Start_InFrame	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)						cellular lipid metabolic process (GO:0044255)|cellular response to cAMP (GO:0071320)|cellular response to tumor necrosis factor (GO:0071356)|gluconeogenesis (GO:0006094)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophosphate shuttle (GO:0006127)|glycerophospholipid biosynthetic process (GO:0046474)|NADH oxidation (GO:0006116)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrion (GO:0005739)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|NAD binding (GO:0051287)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GACGCGGCACCATGGCTAGCA	0.602																																					NSCLC(141;1402 1905 9497 13391 44868)	ENST00000301149.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8								glycerol-3-phosphate dehydrogenase 1 (soluble)	NADH(DB00157)						118.0	112.0	114.0					12																	50497833		2203	4300	6503			2819				glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity	g.chr12:50497833C>A		CCDS8799.1, CCDS58229.1	12q13.12	2013-09-20			ENSG00000167588	ENSG00000167588	1.1.1.8		4455	protein-coding gene	gene with protein product		138420					Standard	NM_005276		Approved		uc001rvz.4	P21695	OTTHUMG00000169813		12.37:g.50497833C>A			Somatic				GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_De_novo_Start_InFrame		NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	WXS	Illumina GAIIx	Phase_I	P21695	GPDA_HUMAN			0	232	+								F8W1L5|Q8N1B0	Translation_Start_Site	SNP	ENST00000301149.3	37		CCDS8799.1																																																																																				0.602	GPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406018.1			6	148	6	148	---	---	---	---
KRT72	140807	broad.mit.edu	37	12	52979802	52979802	+	Silent	SNP	C	C	A	rs149656096	byFrequency	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:52979802C>A	ENST00000537672.2	-	9	1510	c.1500G>T	c.(1498-1500)tcG>tcT	p.S500S	KRT72_ENST00000398066.3_Silent_p.S312S|KRT72_ENST00000293745.2_Silent_p.S500S|KRT72_ENST00000354310.4_Silent_p.S458S	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	500	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.S500S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		AGCTGCTCCCCGAGGTTTTGG	0.557																																						ENST00000293745.2																			1	Substitution - coding silent(1)	p.S500S(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36						c.(1498-1500)tcG>tcT		keratin 72							165.0	148.0	154.0					12																	52979802		2203	4300	6503	SO:0001819	synonymous_variant	140807					keratin filament	structural molecule activity	g.chr12:52979802C>A	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1500G>T	12.37:g.52979802C>A			Somatic				KRT72_ENST00000398066.3_Silent_p.S312S|KRT72_ENST00000537672.2_Silent_p.S500S|KRT72_ENST00000354310.4_Silent_p.S458S	p.S500S	NM_080747.2	NP_542785.1	WXS	Illumina GAIIx	Phase_I	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	9	1585	-			500			Tail.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Silent	SNP	ENST00000537672.2	37	c.1500G>T	CCDS8833.1																																																																																				0.557	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		7	228	7	228	---	---	---	---
KRT72	140807	broad.mit.edu	37	12	52984711	52984711	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:52984711C>A	ENST00000537672.2	-	6	1008	c.998G>T	c.(997-999)gGg>gTg	p.G333V	KRT72_ENST00000398066.3_Missense_Mutation_p.G145V|KRT72_ENST00000293745.2_Missense_Mutation_p.G333V|KRT72_ENST00000354310.4_Intron	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	333	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GAGGTCATCCCCATGCTGGCC	0.537																																						ENST00000293745.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36						c.(997-999)gGg>gTg		keratin 72							103.0	93.0	96.0					12																	52984711		2203	4300	6503	SO:0001583	missense	140807					keratin filament	structural molecule activity	g.chr12:52984711C>A	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.998G>T	12.37:g.52984711C>A	ENSP00000441160:p.Gly333Val		Somatic				KRT72_ENST00000398066.3_Missense_Mutation_p.G145V|KRT72_ENST00000537672.2_Missense_Mutation_p.G333V|KRT72_ENST00000354310.4_Intron	p.G333V	NM_080747.2	NP_542785.1	WXS	Illumina GAIIx	Phase_I	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	6	1083	-			333			Coil 2.|Rod.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	c.998G>T	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660919	0.47572	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000398066	T;T;T	0.77489	-0.95;-0.95;-1.1	5.14	5.14	0.70334	Filament (1);	0.000000	0.50627	D	0.000118	D	0.91240	0.7239	M	0.93016	3.37	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.92822	0.6273	10	0.87932	D	0	.	19.5038	0.95106	0.0:1.0:0.0:0.0	.	333	Q14CN4	K2C72_HUMAN	V	333;333;145	ENSP00000441160:G333V;ENSP00000293745:G333V;ENSP00000446151:G145V	ENSP00000293745:G333V	G	-	2	0	KRT72	51270978	0.706000	0.27856	0.968000	0.41197	0.126000	0.20510	2.351000	0.44071	2.791000	0.96007	0.655000	0.94253	GGG		0.537	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		5	82	5	82	---	---	---	---
HOXC10	3226	broad.mit.edu	37	12	54379100	54379100	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:54379100C>A	ENST00000303460.4	+	1	131	c.57C>A	c.(55-57)ccC>ccA	p.P19P	RP11-834C11.12_ENST00000513209.1_5'Flank|HOXC-AS3_ENST00000509870.1_RNA|HOXC-AS3_ENST00000514702.1_RNA|HOXC-AS3_ENST00000513165.1_RNA|HOXC-AS3_ENST00000567780.1_RNA	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	19					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						TGGCTGCGCCCGGCGGAGGAG	0.597																																						ENST00000303460.4																			0				endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						c.(55-57)ccC>ccA		homeobox C10							67.0	80.0	76.0					12																	54379100		2203	4300	6503	SO:0001819	synonymous_variant	3226				positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54379100C>A		CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"""Homeoboxes / ANTP class : HOXL subclass"""	5122	protein-coding gene	gene with protein product		605560	"""homeo box C10"""	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	ENST00000303460.4:c.57C>A	12.37:g.54379100C>A			Somatic				HOXC-AS3_ENST00000514702.1_RNA	p.P19P	NM_017409.3	NP_059105.2	WXS	Illumina GAIIx	Phase_I	Q9NYD6	HXC10_HUMAN			1	131	+			19					O15219|O15220|Q9BVD5	Silent	SNP	ENST00000303460.4	37	c.57C>A	CCDS8868.1																																																																																				0.597	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358952.2			5	159	5	159	---	---	---	---
ESYT1	23344	broad.mit.edu	37	12	56536108	56536108	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:56536108C>A	ENST00000394048.5	+	25	2896	c.2632C>A	c.(2632-2634)Ctg>Atg	p.L878M	ESYT1_ENST00000550878.1_Intron|ESYT1_ENST00000541590.1_Missense_Mutation_p.L888M|ESYT1_ENST00000267113.4_Missense_Mutation_p.L888M	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	878					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CTCATTATCCCTGCCCCTCTC	0.577																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(2632-2634)Ctg>Atg		extended synaptotagmin-like protein 1							117.0	103.0	108.0					12																	56536108		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56536108C>A	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2632C>A	12.37:g.56536108C>A	ENSP00000377612:p.Leu878Met		Somatic				ESYT1_ENST00000267113.4_Missense_Mutation_p.L888M|ESYT1_ENST00000541590.1_Missense_Mutation_p.L888M|ESYT1_ENST00000550878.1_Intron	p.L878M	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	WXS	Illumina GAIIx	Phase_I	Q9BSJ8	ESYT1_HUMAN			25	2896	+			878					A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.2632C>A	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249402	0.39797	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.74002	-0.8;-0.8;-0.8	4.55	2.71	0.32032	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.157646	0.42420	D	0.000703	T	0.77130	0.4085	L	0.60455	1.87	0.33501	D	0.589966	D;P	0.55385	0.971;0.769	P;P	0.60789	0.879;0.507	T	0.80331	-0.1427	10	0.62326	D	0.03	-11.6668	4.4636	0.11678	0.0:0.6146:0.186:0.1994	.	888;878	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	M	878;832;888;888	ENSP00000377612:L878M;ENSP00000267113:L888M;ENSP00000445952:L888M	ENSP00000267113:L888M	L	+	1	2	ESYT1	54822375	0.433000	0.25562	0.886000	0.34754	0.385000	0.30292	0.670000	0.25157	1.284000	0.44531	-0.291000	0.09656	CTG		0.577	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		7	189	7	189	---	---	---	---
MBD6	114785	broad.mit.edu	37	12	57919487	57919487	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:57919487C>A	ENST00000355673.3	+	6	1092	c.736C>A	c.(736-738)Ccg>Acg	p.P246T	MBD6_ENST00000431731.2_Missense_Mutation_p.P246T	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	246	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GGGCTCTCCTCCGGCCCCTCA	0.617																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(736-738)Ccg>Acg		methyl-CpG binding domain protein 6							132.0	155.0	147.0					12																	57919487		2203	4300	6503	SO:0001583	missense	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57919487C>A	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.736C>A	12.37:g.57919487C>A	ENSP00000347896:p.Pro246Thr		Somatic				MBD6_ENST00000431731.2_Missense_Mutation_p.P246T	p.P246T	NM_052897.3	NP_443129.3	WXS	Illumina GAIIx	Phase_I	Q96DN6	MBD6_HUMAN			6	1092	+			246			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	c.736C>A	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	c	11.19	1.564599	0.27915	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	3.37	3.37	0.38596	.	1.250320	0.06096	U	0.664551	T	0.45657	0.1353	N	0.08118	0	0.31154	N	0.70511	D;D	0.69078	0.997;0.978	D;P	0.78314	0.991;0.846	T	0.52079	-0.8623	8	.	.	.	-2.6698	12.7608	0.57363	0.0:1.0:0.0:0.0	.	246;246	Q6P0P0;Q96DN6	.;MBD6_HUMAN	T	246	.	.	P	+	1	0	MBD6	56205754	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	1.044000	0.30329	2.173000	0.68751	0.444000	0.29173	CCG		0.617	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			8	290	8	290	---	---	---	---
MON2	23041	broad.mit.edu	37	12	62931436	62931436	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:62931436C>A	ENST00000393632.2	+	16	2459	c.2068C>A	c.(2068-2070)Cat>Aat	p.H690N	MON2_ENST00000546600.1_Missense_Mutation_p.H690N|MON2_ENST00000552115.1_Missense_Mutation_p.H690N|MON2_ENST00000393629.2_Missense_Mutation_p.H690N|MON2_ENST00000393630.3_Missense_Mutation_p.H690N|MON2_ENST00000552738.1_Missense_Mutation_p.H667N|MON2_ENST00000280379.6_Missense_Mutation_p.H690N	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	690					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GGCGCATTGCCATGGGGCTGT	0.338																																						ENST00000393630.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.(2068-2070)Cat>Aat		MON2 homolog (S. cerevisiae)							129.0	124.0	126.0					12																	62931436		2203	4300	6503	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62931436C>A		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.2068C>A	12.37:g.62931436C>A	ENSP00000377252:p.His690Asn		Somatic				MON2_ENST00000552115.1_Missense_Mutation_p.H690N|MON2_ENST00000280379.6_Missense_Mutation_p.H690N|MON2_ENST00000546600.1_Missense_Mutation_p.H690N|MON2_ENST00000393632.2_Missense_Mutation_p.H690N|MON2_ENST00000393629.2_Missense_Mutation_p.H690N|MON2_ENST00000552738.1_Missense_Mutation_p.H667N	p.H690N	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	WXS	Illumina GAIIx	Phase_I	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	16	2459	+			690					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.2068C>A	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338064	0.60963	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.54866	0.56;0.56;0.55;0.56;0.57;0.56;0.58	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.49406	0.1555	L	0.39245	1.2	0.80722	D	1	B;B;B;P	0.34462	0.11;0.176;0.176;0.454	B;B;B;B	0.36534	0.085;0.162;0.144;0.227	T	0.35968	-0.9767	9	.	.	.	-15.3371	20.024	0.97514	0.0:1.0:0.0:0.0	.	690;667;690;690	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	N	690;690;690;690;618;667;690;690	ENSP00000377252:H690N;ENSP00000377250:H690N;ENSP00000280379:H690N;ENSP00000447407:H690N;ENSP00000449215:H667N;ENSP00000377249:H690N;ENSP00000446635:H690N	.	H	+	1	0	MON2	61217703	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.757000	0.85209	2.718000	0.92993	0.655000	0.94253	CAT		0.338	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		5	116	5	116	---	---	---	---
SRGAP1	57522	broad.mit.edu	37	12	64485104	64485104	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:64485104C>A	ENST00000355086.3	+	12	2009	c.1485C>A	c.(1483-1485)ccC>ccA	p.P495P	SRGAP1_ENST00000543397.1_Intron|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Intron	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	495	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AGTCCAGGCCCCGCTCACAGT	0.458																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(1483-1485)ccC>ccA		SLIT-ROBO Rho GTPase activating protein 1							94.0	97.0	96.0					12																	64485104		2203	4300	6503	SO:0001819	synonymous_variant	57522				axon guidance	cytosol		g.chr12:64485104C>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1485C>A	12.37:g.64485104C>A			Somatic				SRGAP1_ENST00000543397.1_Intron|SRGAP1_ENST00000357825.3_Intron|RP11-196H14.2_ENST00000535594.1_RNA	p.P495P	NM_020762.2	NP_065813.1	WXS	Illumina GAIIx	Phase_I	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	12	2009	+			495					Q9H8A3|Q9P2P2	Silent	SNP	ENST00000355086.3	37	c.1485C>A	CCDS8967.1																																																																																				0.458	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			5	72	5	72	---	---	---	---
PLXNC1	10154	broad.mit.edu	37	12	94641723	94641723	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:94641723C>A	ENST00000258526.4	+	13	2682	c.2433C>A	c.(2431-2433)ccC>ccA	p.P811P		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	811					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.P811P(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTTTAGCCCCCAGTTTAAAGA	0.448																																						ENST00000258526.4																			1	Substitution - coding silent(1)	p.P811P(1)	lung(1)	breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2431-2433)ccC>ccA		plexin C1							115.0	120.0	119.0					12																	94641723		2203	4300	6503	SO:0001819	synonymous_variant	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94641723C>A	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.2433C>A	12.37:g.94641723C>A			Somatic					p.P811P	NM_005761.2	NP_005752.1	WXS	Illumina GAIIx	Phase_I	O60486	PLXC1_HUMAN			13	2682	+			811					Q59H25	Silent	SNP	ENST00000258526.4	37	c.2433C>A	CCDS9049.1																																																																																				0.448	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			6	185	6	185	---	---	---	---
IKBIP	121457	broad.mit.edu	37	12	99007500	99007500	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:99007500C>A	ENST00000342502.2	-	3	1327	c.916G>T	c.(916-918)Ggg>Tgg	p.G306W	IKBIP_ENST00000420861.1_Missense_Mutation_p.G200W|IKBIP_ENST00000393042.3_3'UTR	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	306					response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						ACCAATCTCCCAATGCGTAGT	0.323																																						ENST00000342502.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						c.(916-918)Ggg>Tgg		IKBKB interacting protein							92.0	95.0	94.0					12																	99007500		2202	4300	6502	SO:0001583	missense	121457				induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr12:99007500C>A	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.916G>T	12.37:g.99007500C>A	ENSP00000343471:p.Gly306Trp		Somatic				IKBIP_ENST00000393042.3_3'UTR|IKBIP_ENST00000420861.1_Missense_Mutation_p.G200W	p.G306W	NM_201612.2	NP_963906.1	WXS	Illumina GAIIx	Phase_I	Q70UQ0	IKIP_HUMAN			3	1327	-			306					Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	ENST00000342502.2	37	c.916G>T	CCDS9067.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.958552	0.74016	.	.	ENSG00000166130	ENST00000342502;ENST00000420861	T;T	0.71222	0.45;-0.55	5.52	5.52	0.82312	.	.	.	.	.	D	0.82793	0.5114	L	0.59436	1.845	0.44424	D	0.997349	D	0.89917	1.0	D	0.97110	1.0	D	0.83408	0.0026	9	0.62326	D	0.03	.	19.4407	0.94820	0.0:1.0:0.0:0.0	.	306	Q70UQ0	IKIP_HUMAN	W	306;200	ENSP00000343471:G306W;ENSP00000398023:G200W	ENSP00000343471:G306W	G	-	1	0	IKBIP	97531631	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.098000	0.71458	2.593000	0.87608	0.643000	0.83706	GGG		0.323	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		6	88	6	88	---	---	---	---
NUP37	79023	broad.mit.edu	37	12	102471269	102471269	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:102471269C>A	ENST00000552283.1	-	7	692	c.553G>T	c.(553-555)Gag>Tag	p.E185*	RP11-554E23.4_ENST00000552707.1_RNA|NUP37_ENST00000251074.1_Nonsense_Mutation_p.E185*|NUP37_ENST00000543021.1_5'Flank			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	185					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|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)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						CCATTCTTCTCTGCAACCATT	0.378																																						ENST00000552283.1																			0				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						c.(553-555)Gag>Tag		nucleoporin 37kDa							107.0	111.0	110.0					12																	102471269		2203	4300	6503	SO:0001587	stop_gained	79023				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr12:102471269C>A	AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"""WD repeat domain containing"""	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.553G>T	12.37:g.102471269C>A	ENSP00000448054:p.Glu185*		Somatic				NUP37_ENST00000251074.1_Nonsense_Mutation_p.E185*	p.E185*			WXS	Illumina GAIIx	Phase_I	Q8NFH4	NUP37_HUMAN			7	692	-			185					Q9H644	Nonsense_Mutation	SNP	ENST00000552283.1	37	c.553G>T	CCDS9089.1	.	.	.	.	.	.	.	.	.	.	C	37	6.210000	0.97380	.	.	ENSG00000075188	ENST00000552283;ENST00000251074	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-16.5923	20.5407	0.99260	0.0:1.0:0.0:0.0	.	.	.	.	X	185	.	ENSP00000251074:E185X	E	-	1	0	NUP37	100995399	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.232000	0.78116	2.865000	0.98341	0.655000	0.94253	GAG		0.378	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	NM_024057		5	89	5	89	---	---	---	---
ANKRD13A	88455	broad.mit.edu	37	12	110465570	110465570	+	Splice_Site	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:110465570G>T	ENST00000261739.4	+	9	1110	c.944G>T	c.(943-945)gGg>gTg	p.G315V		NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	315						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						GGTGCACAAGGGGTAAGTTGA	0.443																																						ENST00000261739.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						c.(943-945)gGg>gTg		ankyrin repeat domain 13A							102.0	100.0	101.0					12																	110465570		2203	4300	6503	SO:0001630	splice_region_variant	88455							g.chr12:110465570G>T	AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"""Ankyrin repeat domain containing"""	21268	protein-coding gene	gene with protein product		615123	"""ankyrin repeat domain 13"""	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.945+1G>T	12.37:g.110465570G>T			Somatic					p.G315V	NM_033121.1	NP_149112.1	WXS	Illumina GAIIx	Phase_I	Q8IZ07	AN13A_HUMAN			9	1110	+			315					O60736	Splice_Site	SNP	ENST00000261739.4	37	c.944G>T	CCDS9140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.5|26.5	4.746981|4.746981	0.89663|0.89663	.|.	.|.	ENSG00000076513|ENSG00000076513	ENST00000261738;ENST00000261739;ENST00000546476|ENST00000547639	T|T	0.49139|0.50001	0.79|0.76	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.045090|0.045090	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.66177|0.66177	0.2763|0.2763	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.982|.	D;P|.	0.71414|.	0.973;0.906|.	T|T	0.68872|0.68872	-0.5294|-0.5294	10|8	0.72032|0.87932	D|D	0.01|0	-23.5591|-23.5591	14.8203|14.8203	0.70068|0.70068	0.0:0.0:0.8473:0.1527|0.0:0.0:0.8473:0.1527	.|.	314;315|.	B4DYP5;Q8IZ07|.	.;AN13A_HUMAN|.	V|W	99;315;86|168	ENSP00000261739:G315V|ENSP00000449781:G168W	ENSP00000261738:G99V|ENSP00000449781:G168W	G|G	+|+	2|1	0|0	ANKRD13A|ANKRD13A	108949953|108949953	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.086000|8.086000	0.89520|0.89520	2.830000|2.830000	0.97506|0.97506	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.443	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121	Missense_Mutation	6	96	6	96	---	---	---	---
CIT	11113	broad.mit.edu	37	12	120166400	120166400	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:120166400C>A	ENST00000261833.7	-	27	3424	c.3372G>T	c.(3370-3372)ctG>ctT	p.L1124L	CIT_ENST00000392521.2_Silent_p.L1166L|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1124	Interaction with Rho/Rac.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCTTCTTCTCCAGGTCATTGA	0.458																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(3496-3498)ctG>ctT		citron (rho-interacting, serine/threonine kinase 21)							184.0	173.0	176.0					12																	120166400		2203	4300	6503	SO:0001819	synonymous_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120166400C>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.3372G>T	12.37:g.120166400C>A			Somatic				CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.L1124L	p.L1166L	NM_001206999.1	NP_001193928.1	WXS	Illumina GAIIx	Phase_I	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	28	3553	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1124			Interaction with Rho/Rac.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.3498G>T	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	9.830	1.188151	0.21954	.	.	ENSG00000122966	ENST00000392520	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	T	0.75228	0.3821	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73525	-0.3955	4	.	.	.	.	19.2982	0.94132	0.0:1.0:0.0:0.0	.	.	.	.	L	752	.	.	W	-	2	0	CIT	118650783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.691000	0.68249	2.641000	0.89580	0.655000	0.94253	TGG		0.458	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		6	240	6	240	---	---	---	---
MLEC	9761	broad.mit.edu	37	12	121134244	121134244	+	Missense_Mutation	SNP	C	C	A	rs372407878		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr12:121134244C>A	ENST00000228506.3	+	5	1203	c.775C>A	c.(775-777)Cgc>Agc	p.R259S	RP11-173P15.3_ENST00000541383.1_RNA|MLEC_ENST00000535413.1_3'UTR|MLEC_ENST00000412616.2_Silent_p.P180P|RP11-173P15.3_ENST00000535720.1_RNA	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	259					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						GTCAGGCCCCCGCACACCCAA	0.512																																						ENST00000228506.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						c.(775-777)Cgc>Agc		malectin							160.0	153.0	156.0					12																	121134244		2203	4300	6503	SO:0001583	missense	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121134244C>A	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.775C>A	12.37:g.121134244C>A	ENSP00000228506:p.Arg259Ser		Somatic				MLEC_ENST00000412616.2_Silent_p.P180P|MLEC_ENST00000535413.1_3'UTR	p.R259S	NM_014730.2	NP_055545.1	WXS	Illumina GAIIx	Phase_I	Q14165	MLEC_HUMAN			5	1203	+			259						Missense_Mutation	SNP	ENST00000228506.3	37	c.775C>A	CCDS9206.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041845	0.55003	.	.	ENSG00000110917	ENST00000228506;ENST00000535656	.	.	.	5.43	3.57	0.40892	.	0.163453	0.56097	N	0.000034	T	0.59649	0.2209	M	0.64404	1.975	0.80722	D	1	D	0.60160	0.987	P	0.50049	0.629	T	0.61262	-0.7098	9	0.72032	D	0.01	.	8.5005	0.33154	0.2726:0.6572:0.0:0.0701	.	259	Q14165	MLEC_HUMAN	S	259;136	.	ENSP00000228506:R259S	R	+	1	0	MLEC	119618627	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.519000	0.53458	0.749000	0.32854	0.563000	0.77884	CGC		0.512	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		7	207	7	207	---	---	---	---
MAB21L1	4081	broad.mit.edu	37	13	36049311	36049311	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr13:36049311G>T	ENST00000379919.4	-	1	1521	c.965C>A	c.(964-966)cCg>cAg	p.P322Q	NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	322					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		ATCTAAGTTCGGTAGAAAGTA	0.537																																						ENST00000379919.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20						c.(964-966)cCg>cAg		mab-21-like 1 (C. elegans)							107.0	107.0	107.0					13																	36049311		2203	4300	6503	SO:0001583	missense	4081				anatomical structure morphogenesis	nucleus		g.chr13:36049311G>T	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.965C>A	13.37:g.36049311G>T	ENSP00000369251:p.Pro322Gln		Somatic				NBEA_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000310336.4_Intron	p.P322Q	NM_005584.4	NP_005575.1	WXS	Illumina GAIIx	Phase_I	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	1521	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	322					Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	c.965C>A	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028215	0.75390	.	.	ENSG00000180660	ENST00000379919	T	0.15952	2.38	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.44932	0.1317	M	0.79258	2.445	0.80722	D	1	P	0.51240	0.943	P	0.62813	0.907	T	0.25502	-1.0130	10	0.56958	D	0.05	-1.5935	19.9576	0.97228	0.0:0.0:1.0:0.0	.	322	Q13394	MB211_HUMAN	Q	322	ENSP00000369251:P322Q	ENSP00000369251:P322Q	P	-	2	0	MAB21L1	34947311	1.000000	0.71417	0.978000	0.43139	0.857000	0.48899	9.869000	0.99810	2.736000	0.93811	0.655000	0.94253	CCG		0.537	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		6	173	6	173	---	---	---	---
ZC3H13	23091	broad.mit.edu	37	13	46544601	46544601	+	Splice_Site	SNP	C	C	A	rs111945370		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr13:46544601C>A	ENST00000242848.4	-	13	2817		c.e13-1		ZC3H13_ENST00000282007.3_Splice_Site|ZC3H13_ENST00000378921.2_5'Flank			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13								metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ATAGCGCTTCCTAAATTGGAC	0.408																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.e13-1		zinc finger CCCH-type containing 13							82.0	88.0	86.0					13																	46544601		2203	4300	6503	SO:0001630	splice_region_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46544601C>A	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2469-1G>T	13.37:g.46544601C>A			Somatic				ZC3H13_ENST00000282007.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	13	2817	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)						A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Splice_Site	SNP	ENST00000242848.4	37			.	.	.	.	.	.	.	.	.	.	C	18.66	3.671060	0.67814	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZC3H13	45442602	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.511000	0.73733	2.770000	0.95276	0.655000	0.94253	.		0.408	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070	Intron	6	146	6	146	---	---	---	---
RNF113B	140432	broad.mit.edu	37	13	98829414	98829414	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr13:98829414C>A	ENST00000267291.6	-	1	105	c.77G>T	c.(76-78)gGa>gTa	p.G26V	FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	26							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CCCTTTCCGTCCAGGCTTTTT	0.647																																						ENST00000267291.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(76-78)gGa>gTa		ring finger protein 113B							45.0	43.0	44.0					13																	98829414		2203	4300	6503	SO:0001583	missense	140432						nucleic acid binding|zinc ion binding	g.chr13:98829414C>A	AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"""RING-type (C3HC4) zinc fingers"""	17267	protein-coding gene	gene with protein product			"""zinc finger protein 183-like 1"""	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.77G>T	13.37:g.98829414C>A	ENSP00000267291:p.Gly26Val		Somatic				FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron	p.G26V	NM_178861.4	NP_849192.1	WXS	Illumina GAIIx	Phase_I	Q8IZP6	R113B_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.13)		1	105	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		26					Q8WWF9|Q96QY9	Missense_Mutation	SNP	ENST00000267291.6	37	c.77G>T	CCDS9486.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369146	0.42003	.	.	ENSG00000139797	ENST00000267291	T	0.31247	1.5	1.16	1.16	0.20824	.	0.372304	0.24779	U	0.035674	T	0.22282	0.0537	M	0.63428	1.95	0.43489	D	0.995723	P	0.35328	0.495	B	0.28139	0.086	T	0.03933	-1.0991	10	0.29301	T	0.29	.	5.6622	0.17674	0.0:1.0:0.0:0.0	.	26	Q8IZP6	R113B_HUMAN	V	26	ENSP00000267291:G26V	ENSP00000267291:G26V	G	-	2	0	RNF113B	97627415	0.059000	0.20769	0.959000	0.39883	0.816000	0.46133	0.012000	0.13287	0.936000	0.37367	0.484000	0.47621	GGA		0.647	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	NM_178861		5	49	5	49	---	---	---	---
CHAMP1	283489	broad.mit.edu	37	13	115089998	115089998	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr13:115089998C>A	ENST00000361283.1	+	3	990	c.681C>A	c.(679-681)ccC>ccA	p.P227P		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	227	Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										ATCCCAAACCCCAGAAGCAGT	0.527																																						ENST00000361283.1																			0											c.(679-681)ccC>ccA		chromosome alignment maintaining phosphoprotein 1							103.0	117.0	113.0					13																	115089998		2203	4300	6503	SO:0001819	synonymous_variant	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115089998C>A	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.681C>A	13.37:g.115089998C>A			Somatic					p.P227P	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	WXS	Illumina GAIIx	Phase_I	Q96JM3	ZN828_HUMAN			3	990	+			227			Pro-rich.		B3KU06|Q6P181|Q8NC88|Q9BST0	Silent	SNP	ENST00000361283.1	37	c.681C>A	CCDS9545.1																																																																																				0.527	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		7	201	7	201	---	---	---	---
TRAV12-2	28673	broad.mit.edu	37	14	22356675	22356675	+	RNA	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr14:22356675C>A	ENST00000390437.2	+	0	438									T cell receptor alpha variable 12-2																		ACCTCTGTGCCGTGAACACAC	0.522																																						ENST00000390437.2																			0																				129.0	125.0	126.0					14																	22356675		1956	4159	6115			28673							g.chr14:22356675C>A	AE000659		14q11.2	2012-02-07			ENSG00000211789	ENSG00000211789		"""T cell receptors / TRA locus"""	12106	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168994		14.37:g.22356675C>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	438	+									RNA	SNP	ENST00000390437.2	37																																																																																						0.522	TRAV12-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401892.1	NG_001332		5	201	5	201	---	---	---	---
PABPN1	8106	broad.mit.edu	37	14	23793354	23793354	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr14:23793354C>A	ENST00000216727.4	+	6	918	c.737C>A	c.(736-738)cCa>cAa	p.P246Q	AL049829.1_ENST00000594872.1_5'Flank|PABPN1_ENST00000557702.1_Missense_Mutation_p.P118Q|PABPN1_ENST00000556821.1_Missense_Mutation_p.P118Q|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.P273Q|PABPN1_ENST00000397276.2_Missense_Mutation_p.P246Q|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.P273Q	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	246	Necessary for homooligomerization.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CAGGTGATCCCAAAACGAACC	0.507																																						ENST00000397276.2																			0				large_intestine(1)|lung(1)|ovary(2)	4						c.(736-738)cCa>cAa		poly(A) binding protein, nuclear 1							79.0	81.0	80.0					14																	23793354		2203	4300	6503	SO:0001583	missense	8106							g.chr14:23793354C>A	AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"""RNA binding motif (RRM) containing"""	8565	protein-coding gene	gene with protein product		602279	"""poly(A)-binding protein, nuclear 1"""	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.737C>A	14.37:g.23793354C>A	ENSP00000216727:p.Pro246Gln		Somatic				PABPN1_ENST00000216727.4_Missense_Mutation_p.P246Q|PABPN1_ENST00000557702.1_Missense_Mutation_p.P118Q|PABPN1_ENST00000556821.1_Missense_Mutation_p.P118Q|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.P273Q|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.P273Q	p.P246Q			WXS	Illumina GAIIx	Phase_I				GBM - Glioblastoma multiforme(265;0.00643)	6	750	+	all_cancers(95;6.69e-06)							D3DS49|O43484	Missense_Mutation	SNP	ENST00000216727.4	37	c.737C>A	CCDS9592.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591353	0.46214	.	.	ENSG00000258643;ENSG00000258643;ENSG00000100836;ENSG00000100836;ENSG00000100836;ENSG00000100836	ENST00000553781;ENST00000557008;ENST00000216727;ENST00000397276;ENST00000556821;ENST00000557702	T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87;-0.87	5.17	5.17	0.71159	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.058264	0.64402	D	0.000002	T	0.74465	0.3720	L	0.52126	1.63	0.53688	D	0.999972	P;P;P	0.42375	0.778;0.728;0.498	B;B;B	0.44044	0.358;0.439;0.121	T	0.76680	-0.2870	10	0.52906	T	0.07	-7.3641	17.8058	0.88600	0.0:1.0:0.0:0.0	.	246;246;273	Q86U42;Q86U42-2;G3V5R7	PABP2_HUMAN;.;.	Q	273;273;246;246;118;118	ENSP00000451320:P273Q;ENSP00000452479:P273Q;ENSP00000216727:P246Q;ENSP00000380446:P246Q;ENSP00000451970:P118Q;ENSP00000450724:P118Q	ENSP00000216727:P246Q	P	+	2	0	PABPN1;RP11-124D2.2	22863194	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	4.134000	0.57990	2.581000	0.87130	0.655000	0.94253	CCA		0.507	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071767.4	NM_004643		5	81	5	81	---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23855798	23855798	+	Missense_Mutation	SNP	C	C	A	rs371068881		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr14:23855798C>A	ENST00000356287.3	-	32	4714	c.4685G>T	c.(4684-4686)cGg>cTg	p.R1562L	MYH6_ENST00000405093.3_Missense_Mutation_p.R1562L|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1562					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TAGCTGGGCCCGGAGGATCTT	0.642																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(4684-4686)cGg>cTg		myosin, heavy chain 6, cardiac muscle, alpha		C	LEU/ARG	0,4406		0,0,2203	123.0	128.0	127.0		4685	4.3	1.0	14		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYH6	NM_002471.3	102	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	1562/1940	23855798	1,13005	2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23855798C>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4685G>T	14.37:g.23855798C>A	ENSP00000348634:p.Arg1562Leu		Somatic				MYH6_ENST00000356287.3_Missense_Mutation_p.R1562L	p.R1562L	NM_002471.3	NP_002462.2	WXS	Illumina GAIIx	Phase_I	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	33	4755	-	all_cancers(95;2.54e-05)		1562					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.4685G>T	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	29.0	4.965847	0.92855	0.0	1.16E-4	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.84589	-1.87;-1.87	4.35	4.35	0.52113	Myosin tail (1);	.	.	.	.	D	0.94791	0.8318	H	0.96691	3.865	0.58432	D	0.999997	D	0.58970	0.984	D	0.65684	0.937	D	0.96903	0.9661	9	0.87932	D	0	.	17.2605	0.87068	0.0:1.0:0.0:0.0	.	1562	P13533	MYH6_HUMAN	L	1562	ENSP00000386041:R1562L;ENSP00000348634:R1562L	ENSP00000348634:R1562L	R	-	2	0	MYH6	22925638	0.673000	0.27539	0.994000	0.49952	0.998000	0.95712	6.005000	0.70716	2.110000	0.64415	0.561000	0.74099	CGG		0.642	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			5	214	5	214	---	---	---	---
RIPK3	11035	broad.mit.edu	37	14	24808680	24808680	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr14:24808680C>A	ENST00000216274.5	-	2	362	c.144G>T	c.(142-144)gcG>gcT	p.A48A	RIPK3_ENST00000554338.1_5'UTR|RP11-934B9.3_ENST00000555591.1_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	48	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		CGATCTTGACCGCCACATCGT	0.602																																					Pancreas(58;918 1191 4668 13304 15331)	ENST00000216274.5																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(142-144)gcG>gcT		receptor-interacting serine-threonine kinase 3							121.0	123.0	122.0					14																	24808680		2203	4300	6503	SO:0001819	synonymous_variant	11035				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity	g.chr14:24808680C>A	AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.144G>T	14.37:g.24808680C>A			Somatic				RIPK3_ENST00000554338.1_5'UTR	p.A48A	NM_006871.3	NP_006862.2	WXS	Illumina GAIIx	Phase_I	Q9Y572	RIPK3_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	2	362	-			48			Protein kinase.		B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Silent	SNP	ENST00000216274.5	37	c.144G>T	CCDS9628.1																																																																																				0.602	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	NM_006871		5	204	5	204	---	---	---	---
NFATC4	4776	broad.mit.edu	37	14	24845950	24845950	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr14:24845950C>A	ENST00000250373.4	+	9	2648	c.2507C>A	c.(2506-2508)cCt>cAt	p.P836H	NFATC4_ENST00000413692.2_Missense_Mutation_p.P899H|NFATC4_ENST00000556279.1_Missense_Mutation_p.P868H|NFATC4_ENST00000555167.1_Missense_Mutation_p.P371H|NFATC4_ENST00000555590.1_Missense_Mutation_p.P849H|NFATC4_ENST00000556759.1_Missense_Mutation_p.P371H|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000539237.2_Missense_Mutation_p.P868H|NFATC4_ENST00000555802.1_Missense_Mutation_p.P124H|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000553708.1_Missense_Mutation_p.P836H|NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000554344.1_Missense_Mutation_p.P766H|NFATC4_ENST00000424781.2_Missense_Mutation_p.P849H|NFATC4_ENST00000422617.3_Missense_Mutation_p.P824H|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000555393.1_Missense_Mutation_p.P124H|NFATC4_ENST00000557451.1_Missense_Mutation_p.P766H|NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000554661.1_Intron|NFATC4_ENST00000555453.1_Missense_Mutation_p.P824H|NFATC4_ENST00000553879.1_Missense_Mutation_p.P766H	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	836	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CATCCCCTACCTGCTGAGGGA	0.637																																						ENST00000413692.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(2695-2697)cCt>cAt		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							62.0	71.0	68.0					14																	24845950		2203	4299	6502	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24845950C>A	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.2507C>A	14.37:g.24845950C>A	ENSP00000250373:p.Pro836His		Somatic				NFATC4_ENST00000556279.1_Missense_Mutation_p.P868H|NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000554344.1_Missense_Mutation_p.P766H|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000555393.1_Missense_Mutation_p.P124H|NFATC4_ENST00000250373.4_Missense_Mutation_p.P836H|NFATC4_ENST00000553708.1_Missense_Mutation_p.P836H|NFATC4_ENST00000555590.1_Missense_Mutation_p.P849H|NFATC4_ENST00000553879.1_Missense_Mutation_p.P766H|NFATC4_ENST00000555167.1_Missense_Mutation_p.P371H|NFATC4_ENST00000555453.1_Missense_Mutation_p.P824H|NFATC4_ENST00000557451.1_Missense_Mutation_p.P766H|NFATC4_ENST00000424781.2_Missense_Mutation_p.P849H|NFATC4_ENST00000422617.3_Missense_Mutation_p.P824H|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000556759.1_Missense_Mutation_p.P371H|NFATC4_ENST00000539237.2_Missense_Mutation_p.P868H|NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000555802.1_Missense_Mutation_p.P124H|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000554661.1_Intron	p.P899H	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	WXS	Illumina GAIIx	Phase_I	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	10	2840	+			836					B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.2696C>A	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777827	0.70107	.	.	ENSG00000100968	ENST00000413692;ENST00000555590;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000556759;ENST00000555167;ENST00000555393;ENST00000555802	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58358	3.24;3.32;3.26;3.25;3.31;3.32;3.27;3.0;3.0;2.94;2.95;2.99;1.53;1.52;0.34;0.81	5.65	5.65	0.86999	.	0.108396	0.42420	D	0.000711	T	0.55097	0.1899	N	0.14661	0.345	0.40401	D	0.979641	D;D;D;D;D;D;D;D;D	0.71674	0.985;0.994;0.985;0.992;0.997;0.998;0.992;0.997;0.975	P;P;P;P;D;D;P;D;P	0.63192	0.789;0.847;0.694;0.875;0.912;0.912;0.875;0.912;0.498	T	0.58907	-0.7553	10	0.44086	T	0.13	-3.8924	17.2199	0.86954	0.0:1.0:0.0:0.0	.	824;868;849;849;899;899;824;868;836	Q14934-9;Q14934-4;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;Q14934	.;.;.;.;.;.;.;.;NFAC4_HUMAN	H	899;849;849;868;868;836;836;766;766;766;824;824;371;371;124;124	ENSP00000388910:P899H;ENSP00000451224:P849H;ENSP00000388668:P849H;ENSP00000439350:P868H;ENSP00000452270:P868H;ENSP00000250373:P836H;ENSP00000450590:P836H;ENSP00000452349:P766H;ENSP00000450469:P766H;ENSP00000451284:P766H;ENSP00000396788:P824H;ENSP00000450686:P824H;ENSP00000451183:P371H;ENSP00000451395:P371H;ENSP00000451801:P124H;ENSP00000451590:P124H	ENSP00000250373:P836H	P	+	2	0	NFATC4	23915790	0.874000	0.30092	0.949000	0.38748	0.972000	0.66771	3.263000	0.51546	2.667000	0.90743	0.561000	0.74099	CCT		0.637	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		6	136	6	136	---	---	---	---
DCAF5	8816	broad.mit.edu	37	14	69542088	69542088	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr14:69542088C>A	ENST00000341516.5	-	7	1067	c.920G>T	c.(919-921)tGg>tTg	p.W307L	DCAF5_ENST00000556847.1_Missense_Mutation_p.W225L|DCAF5_ENST00000554215.1_Missense_Mutation_p.W225L|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000557386.1_Missense_Mutation_p.W306L	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	307					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						AGGAATTCTCCACATGTACAG	0.383																																						ENST00000341516.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						c.(919-921)tGg>tTg		DDB1 and CUL4 associated factor 5							153.0	156.0	155.0					14																	69542088		2203	4300	6503	SO:0001583	missense	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69542088C>A	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.920G>T	14.37:g.69542088C>A	ENSP00000341351:p.Trp307Leu		Somatic				DCAF5_ENST00000554215.1_Missense_Mutation_p.W225L|DCAF5_ENST00000556847.1_Missense_Mutation_p.W225L|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000557386.1_Missense_Mutation_p.W306L	p.W307L	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	WXS	Illumina GAIIx	Phase_I	Q96JK2	DCAF5_HUMAN			7	1067	-			307					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	c.920G>T	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038542	0.75617	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.28	4.37	0.52481	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73016	0.3533	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	T	0.81656	-0.0834	10	0.87932	D	0	-8.5004	13.9921	0.64374	0.1528:0.8472:0.0:0.0	.	306;307	G3V4J7;Q96JK2	.;DCAF5_HUMAN	L	307;225;225;306	ENSP00000341351:W307L;ENSP00000451551:W225L;ENSP00000452052:W225L;ENSP00000451845:W306L	ENSP00000341351:W307L	W	-	2	0	DCAF5	68611841	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.000000	0.70678	1.399000	0.46721	0.585000	0.79938	TGG		0.383	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		7	294	7	294	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102452969	102452969	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr14:102452969C>A	ENST00000360184.4	+	8	2571	c.2407C>A	c.(2407-2409)Ctt>Att	p.L803I		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	803	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CACCATTTCCCTTTTGGTGGC	0.522																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(2407-2409)Ctt>Att		dynein, cytoplasmic 1, heavy chain 1							138.0	128.0	131.0					14																	102452969		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102452969C>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.2407C>A	14.37:g.102452969C>A	ENSP00000348965:p.Leu803Ile		Somatic					p.L803I	NM_001376.4	NP_001367.2	WXS	Illumina GAIIx	Phase_I	Q14204	DYHC1_HUMAN			8	2571	+			803			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.2407C>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	4.826	0.153552	0.09185	.	.	ENSG00000197102	ENST00000360184	T	0.54479	0.57	5.52	5.52	0.82312	Dynein heavy chain, domain-1 (1);	0.066172	0.64402	D	0.000007	T	0.38772	0.1053	N	0.16307	0.4	0.58432	D	0.999998	P	0.37141	0.584	B	0.40782	0.34	T	0.15954	-1.0419	10	0.17832	T	0.49	.	13.0636	0.59020	0.0:0.9264:0.0:0.0736	.	803	Q14204	DYHC1_HUMAN	I	803	ENSP00000348965:L803I	ENSP00000348965:L803I	L	+	1	0	DYNC1H1	101522722	1.000000	0.71417	0.058000	0.19502	0.167000	0.22549	5.704000	0.68347	2.767000	0.95098	0.655000	0.94253	CTT		0.522	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		6	145	6	145	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28375705	28375705	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:28375705C>A	ENST00000261609.7	-	82	12714	c.12606G>T	c.(12604-12606)gtG>gtT	p.V4202V		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATCCGCATTCCACTTTAACTA	0.423																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(12604-12606)gtG>gtT		HECT and RLD domain containing E3 ubiquitin protein ligase 2							175.0	187.0	183.0					15																	28375705		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28375705C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12606G>T	15.37:g.28375705C>A			Somatic					p.V4202V	NM_004667.5	NP_004658.3	WXS	Illumina GAIIx	Phase_I	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	82	12714	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4202						Silent	SNP	ENST00000261609.7	37	c.12606G>T	CCDS10021.1																																																																																				0.423	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		6	229	6	229	---	---	---	---
FRMD5	84978	broad.mit.edu	37	15	44211981	44211981	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:44211981C>A	ENST00000417257.1	-	3	410	c.234G>T	c.(232-234)gtG>gtT	p.V78V	FRMD5_ENST00000484674.1_5'UTR|FRMD5_ENST00000402883.1_Silent_p.V78V	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	78	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		ATTGTTTCACCACAGACTTTG	0.408																																						ENST00000417257.1																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(232-234)gtG>gtT		FERM domain containing 5							73.0	79.0	77.0					15																	44211981		2198	4298	6496	SO:0001819	synonymous_variant	84978					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr15:44211981C>A	BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.234G>T	15.37:g.44211981C>A			Somatic				FRMD5_ENST00000402883.1_Silent_p.V78V|FRMD5_ENST00000484674.1_5'UTR	p.V78V	NM_032892.3	NP_116281.2	WXS	Illumina GAIIx	Phase_I	Q7Z6J6	FRMD5_HUMAN		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)	3	410	-		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)	78			FERM.		Q8NBG4	Silent	SNP	ENST00000417257.1	37	c.234G>T	CCDS10107.2																																																																																				0.408	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	NM_032892		5	77	5	77	---	---	---	---
SHF	90525	broad.mit.edu	37	15	45467512	45467512	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:45467512C>A	ENST00000560734.1	-	3	752	c.752G>T	c.(751-753)cGg>cTg	p.R251L	RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000318390.6_Missense_Mutation_p.R243L|SHF_ENST00000560540.1_Missense_Mutation_p.R251L|SHF_ENST00000458022.2_Missense_Mutation_p.R49L|SHF_ENST00000561091.1_5'UTR|SHF_ENST00000560471.1_Missense_Mutation_p.R251L|SHF_ENST00000290894.8_Missense_Mutation_p.R186L					Src homology 2 domain containing F											endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		GCGGGACTCCCGGGGCCAGGG	0.627																																						ENST00000290894.8																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12						c.(556-558)cGg>cTg		Src homology 2 domain containing F							19.0	21.0	20.0					15																	45467512		2198	4292	6490	SO:0001583	missense	90525							g.chr15:45467512C>A	BC007586	CCDS10120.2, CCDS73721.1	15q21.1	2013-02-14			ENSG00000138606	ENSG00000138606		"""SH2 domain containing"""	25116	protein-coding gene	gene with protein product						11095946	Standard	NM_138356		Approved		uc001zuy.3	Q7M4L6	OTTHUMG00000131353	ENST00000560734.1:c.752G>T	15.37:g.45467512C>A	ENSP00000453168:p.Arg251Leu		Somatic				RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000560540.1_Missense_Mutation_p.R251L|SHF_ENST00000560471.1_Missense_Mutation_p.R251L|SHF_ENST00000318390.6_Missense_Mutation_p.R243L|SHF_ENST00000561091.1_5'UTR|SHF_ENST00000458022.2_Missense_Mutation_p.R49L|SHF_ENST00000560734.1_Missense_Mutation_p.R251L	p.R186L	NM_138356.2	NP_612365	WXS	Illumina GAIIx	Phase_I	B3KTY1	B3KTY1_HUMAN		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)	4	1051	-		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	186						Missense_Mutation	SNP	ENST00000560734.1	37	c.557G>T		.	.	.	.	.	.	.	.	.	.	C	21.7	4.183354	0.78677	.	.	ENSG00000138606	ENST00000290894;ENST00000361989;ENST00000318390;ENST00000458022;ENST00000413198	T;T;T	0.32023	1.47;1.47;1.47	5.25	5.25	0.73442	.	0.058126	0.64402	D	0.000002	T	0.48768	0.1518	L	0.48362	1.52	0.80722	D	1	P;D;D;D;P	0.76494	0.771;0.99;0.999;0.998;0.912	B;P;D;D;P	0.69307	0.436;0.691;0.963;0.952;0.57	T	0.47812	-0.9088	10	0.72032	D	0.01	-6.0865	16.3446	0.83118	0.0:1.0:0.0:0.0	.	49;186;176;243;186	Q8N9I8;E7EV73;E7EWB7;F8W6K9;Q7M4L6	.;.;.;.;SHF_HUMAN	L	186;186;243;49;176	ENSP00000290894:R186L;ENSP00000315978:R243L;ENSP00000411530:R49L	ENSP00000290894:R186L	R	-	2	0	SHF	43254804	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.274000	0.78538	2.446000	0.82766	0.491000	0.48974	CGG		0.627	SHF-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000416338.1	NM_138356		3	15	3	15	---	---	---	---
GNB5	10681	broad.mit.edu	37	15	52433337	52433337	+	Splice_Site	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:52433337C>A	ENST00000261837.7	-	7	692	c.627G>T	c.(625-627)caG>caT	p.Q209H	GNB5_ENST00000396335.4_Intron|CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000358784.7_Splice_Site_p.Q167H|CTD-2184D3.7_ENST00000560613.1_RNA|GNB5_ENST00000559348.1_5'Flank	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	209					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GCCTATTTACCTGCATGTCAG	0.507																																						ENST00000261837.7																			0				large_intestine(1)|lung(1)	2						c.(625-627)caG>caT		guanine nucleotide binding protein (G protein), beta 5							106.0	97.0	100.0					15																	52433337		2195	4293	6488	SO:0001630	splice_region_variant	10681					heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr15:52433337C>A	AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"""WD repeat domain containing"""	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.627+1G>T	15.37:g.52433337C>A			Somatic				GNB5_ENST00000396335.4_Intron|GNB5_ENST00000358784.7_Splice_Site_p.Q167H	p.Q209H	NM_016194.3	NP_057278.2	WXS	Illumina GAIIx	Phase_I	O14775	GBB5_HUMAN		all cancers(107;0.0163)	7	692	-			209					B2RBR5|Q9HAU9|Q9UFT3	Splice_Site	SNP	ENST00000261837.7	37	c.627G>T	CCDS10149.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222293	0.79464	.	.	ENSG00000069966	ENST00000261837;ENST00000396335	T	0.59502	0.26	5.17	4.25	0.50352	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.63838	0.2545	L	0.28556	0.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62086	-0.6928	9	.	.	.	-27.5046	13.9666	0.64213	0.0:0.9269:0.0:0.0731	.	209	O14775	GBB5_HUMAN	H	209;167	ENSP00000261837:Q209H	.	Q	-	3	2	GNB5	50220629	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	5.776000	0.68924	1.403000	0.46800	0.561000	0.74099	CAG		0.507	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1		Missense_Mutation	6	87	6	87	---	---	---	---
ISLR	3671	broad.mit.edu	37	15	74468100	74468100	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:74468100C>A	ENST00000249842.3	+	2	1258	c.901C>A	c.(901-903)Cag>Aag	p.Q301K	ISLR_ENST00000395118.1_Missense_Mutation_p.Q301K|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	301	Ig-like.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GGCCAGCTCCCAGCCGCGCTT	0.632																																						ENST00000249842.3																			0				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						c.(901-903)Cag>Aag		immunoglobulin superfamily containing leucine-rich repeat							57.0	60.0	59.0					15																	74468100		2198	4296	6494	SO:0001583	missense	3671				cell adhesion	extracellular region		g.chr15:74468100C>A	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.901C>A	15.37:g.74468100C>A	ENSP00000249842:p.Gln301Lys		Somatic				ISLR_ENST00000395118.1_Missense_Mutation_p.Q301K|RP11-665J16.1_ENST00000561647.1_RNA	p.Q301K	NM_005545.3	NP_005536.1	WXS	Illumina GAIIx	Phase_I	O14498	ISLR_HUMAN			2	1258	+			301			Ig-like.			Missense_Mutation	SNP	ENST00000249842.3	37	c.901C>A	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.839257	0.00573	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.66460	-0.21;-0.21	4.37	2.41	0.29592	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.410307	0.17162	U	0.184658	T	0.49355	0.1552	L	0.32530	0.975	0.09310	N	1	B	0.18461	0.028	B	0.15870	0.014	T	0.26916	-1.0089	10	0.05959	T	0.93	.	11.9747	0.53085	0.3324:0.6676:0.0:0.0	.	301	O14498	ISLR_HUMAN	K	301	ENSP00000249842:Q301K;ENSP00000378550:Q301K	ENSP00000249842:Q301K	Q	+	1	0	ISLR	72255153	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.504000	0.22626	0.265000	0.21872	0.313000	0.20887	CAG		0.632	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		7	122	7	122	---	---	---	---
UBL7	84993	broad.mit.edu	37	15	74740896	74740896	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:74740896C>A	ENST00000567435.1	-	10	1391	c.928G>T	c.(928-930)Ggg>Tgg	p.G310W	UBL7_ENST00000565335.1_Missense_Mutation_p.G310W|UBL7_ENST00000564488.1_Missense_Mutation_p.G310W|UBL7_ENST00000361351.4_Missense_Mutation_p.G310W|UBL7_ENST00000395081.2_Missense_Mutation_p.G310W			Q96S82	UBL7_HUMAN	ubiquitin-like 7	310										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						ATGGGCGTCCCTGACTGGACA	0.557																																						ENST00000567435.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(928-930)Ggg>Tgg		ubiquitin-like 7 (bone marrow stromal cell-derived)							255.0	231.0	239.0					15																	74740896		2197	4296	6493	SO:0001583	missense	84993						protein binding	g.chr15:74740896C>A	BC007913	CCDS10263.1	15q23	2014-03-06	2014-03-06		ENSG00000138629	ENSG00000138629			28221	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived ubiquitin-like"", "" ubiquitin-like protein SB132"""	609748	"""ubiquitin-like 7 (bone marrow stromal cell-derived)"""			12644319	Standard	NM_201265		Approved	BMSC-UbP, MGC14421	uc002axy.1	Q96S82	OTTHUMG00000139001	ENST00000567435.1:c.928G>T	15.37:g.74740896C>A	ENSP00000457703:p.Gly310Trp		Somatic				UBL7_ENST00000361351.4_Missense_Mutation_p.G310W|UBL7_ENST00000565335.1_Missense_Mutation_p.G310W|UBL7_ENST00000395081.2_Missense_Mutation_p.G310W|UBL7_ENST00000564488.1_Missense_Mutation_p.G310W	p.G310W			WXS	Illumina GAIIx	Phase_I	Q96S82	UBL7_HUMAN			10	1391	-			310					D3DW57|Q96I03	Missense_Mutation	SNP	ENST00000567435.1	37	c.928G>T	CCDS10263.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964169	0.74131	.	.	ENSG00000138629	ENST00000361351;ENST00000395081	T;T	0.55588	0.51;0.51	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.63604	0.2525	L	0.32530	0.975	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66496	-0.5909	10	0.59425	D	0.04	-10.7034	16.8509	0.85993	0.0:1.0:0.0:0.0	.	350;310	D3DW56;Q96S82	.;UBL7_HUMAN	W	310	ENSP00000354883:G310W;ENSP00000378518:G310W	ENSP00000354883:G310W	G	-	1	0	UBL7	72527949	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.724000	0.68500	2.307000	0.77673	0.462000	0.41574	GGG		0.557	UBL7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419627.1	NM_032907, NM_201265		8	290	8	290	---	---	---	---
LINGO1	84894	broad.mit.edu	37	15	77906909	77906909	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:77906909C>A	ENST00000355300.6	-	2	1514	c.1340G>T	c.(1339-1341)cGg>cTg	p.R447L	LINGO1_ENST00000561030.1_Missense_Mutation_p.R441L	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	447	Ig-like C2-type.				central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GCCATCGGCCCGGCACACAAA	0.667																																						ENST00000355300.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1339-1341)cGg>cTg		leucine rich repeat and Ig domain containing 1							12.0	16.0	15.0					15																	77906909		2094	4185	6279	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77906909C>A	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1340G>T	15.37:g.77906909C>A	ENSP00000347451:p.Arg447Leu		Somatic				LINGO1_ENST00000561030.1_Missense_Mutation_p.R441L	p.R447L	NM_032808.5	NP_116197.4	WXS	Illumina GAIIx	Phase_I	Q96FE5	LIGO1_HUMAN			2	1514	-			447			Ig-like C2-type.		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.1340G>T	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	C	8.320	0.824054	0.16678	.	.	ENSG00000169783	ENST00000355300	T	0.68025	-0.3	4.55	4.55	0.56014	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.057228	0.64402	D	0.000001	T	0.62245	0.2412	L	0.45744	1.44	0.58432	D	0.999994	B	0.06786	0.001	B	0.09377	0.004	T	0.61926	-0.6962	10	0.56958	D	0.05	.	17.3021	0.87185	0.0:1.0:0.0:0.0	.	447	Q96FE5	LIGO1_HUMAN	L	447	ENSP00000347451:R447L	ENSP00000347451:R447L	R	-	2	0	LINGO1	75693964	1.000000	0.71417	0.999000	0.59377	0.400000	0.30750	6.023000	0.70848	2.074000	0.62210	0.462000	0.41574	CGG		0.667	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		3	16	3	16	---	---	---	---
CHRNA3	1136	broad.mit.edu	37	15	78893932	78893932	+	Missense_Mutation	SNP	G	G	T	rs199926819		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:78893932G>T	ENST00000326828.5	-	5	1436	c.1052C>A	c.(1051-1053)cCc>cAc	p.P351H	CHRNA3_ENST00000348639.3_Missense_Mutation_p.P351H	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	351					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	CATGACCCTGGGGAGCAGGTT	0.552																																						ENST00000326828.5																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1051-1053)cCc>cAc		cholinergic receptor, nicotinic, alpha 3 (neuronal)							118.0	109.0	112.0					15																	78893932		2196	4293	6489	SO:0001583	missense	1136				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78893932G>T		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.1052C>A	15.37:g.78893932G>T	ENSP00000315602:p.Pro351His		Somatic				CHRNA3_ENST00000348639.3_Missense_Mutation_p.P351H	p.P351H	NM_000743.4	NP_000734.2	WXS	Illumina GAIIx	Phase_I	P32297	ACHA3_HUMAN			5	1436	-			351					Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Missense_Mutation	SNP	ENST00000326828.5	37	c.1052C>A	CCDS10305.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803771	0.90623	.	.	ENSG00000080644	ENST00000348639;ENST00000326828;ENST00000326858	T;T	0.75589	-0.95;-0.95	6.02	6.02	0.97574	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92018	0.7471	H	0.97635	4.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93821	0.7119	10	0.87932	D	0	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	351;351	P32297;P32297-3	ACHA3_HUMAN;.	H	351;351;215	ENSP00000267951:P351H;ENSP00000315602:P351H	ENSP00000315602:P351H	P	-	2	0	CHRNA3	76680987	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.839000	0.99476	2.865000	0.98341	0.655000	0.94253	CCC		0.552	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3			8	100	8	100	---	---	---	---
ARNT2	9915	broad.mit.edu	37	15	80883998	80883998	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:80883998G>T	ENST00000303329.4	+	18	2173	c.2008G>T	c.(2008-2010)Ggt>Tgt	p.G670C	ARNT2_ENST00000527771.1_Missense_Mutation_p.G659C|ARNT2_ENST00000533983.1_Missense_Mutation_p.G659C	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	670					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CCAGCAGAGCGGTGAGCAGCA	0.597																																						ENST00000533983.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(1975-1977)Ggt>Tgt		aryl-hydrocarbon receptor nuclear translocator 2							117.0	112.0	114.0					15																	80883998		2203	4300	6503	SO:0001583	missense	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80883998G>T	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.2008G>T	15.37:g.80883998G>T	ENSP00000307479:p.Gly670Cys		Somatic				ARNT2_ENST00000527771.1_Missense_Mutation_p.G659C|ARNT2_ENST00000303329.4_Missense_Mutation_p.G670C	p.G659C			WXS	Illumina GAIIx	Phase_I	Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		19	2314	+			670					B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	c.1975G>T	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876752	0.72180	.	.	ENSG00000172379	ENST00000360062;ENST00000303329	T	0.07800	3.16	5.07	2.81	0.32909	.	0.232728	0.43919	D	0.000517	T	0.11110	0.0271	L	0.34521	1.04	0.58432	D	0.999995	D	0.58970	0.984	P	0.52909	0.713	T	0.04041	-1.0982	10	0.72032	D	0.01	.	8.8604	0.35253	0.3245:0.0:0.6755:0.0	.	670	Q9HBZ2	ARNT2_HUMAN	C	659;670	ENSP00000307479:G670C	ENSP00000307479:G670C	G	+	1	0	ARNT2	78671053	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.014000	0.49590	1.125000	0.41998	0.313000	0.20887	GGT		0.597	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			4	116	4	116	---	---	---	---
AGBL1	123624	broad.mit.edu	37	15	87531319	87531319	+	Splice_Site	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:87531319C>A	ENST00000441037.2	+	23	3280	c.3185C>A	c.(3184-3186)cCa>cAa	p.P1062Q	RP11-133L19.1_ENST00000558587.1_RNA|AGBL1_ENST00000389298.3_Missense_Mutation_p.P793Q|AGBL1_ENST00000421325.2_Missense_Mutation_p.P1062Q	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1062			Missing (in FECD8; enriched in the nucleus, decreased TCF4-binding). {ECO:0000269|PubMed:24094747}.		C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						catgtctccccgtgagtatgt	0.413																																						ENST00000421325.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(3184-3186)cCg>cAg		ATP/GTP binding protein-like 1							204.0	193.0	197.0					15																	87531319		1888	4105	5993	SO:0001630	splice_region_variant	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:87531319C>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.3185+1C>A	15.37:g.87531319C>A			Somatic				RP11-133L19.1_ENST00000558587.1_RNA|AGBL1_ENST00000441037.2_Splice_Site_p.P1062Q|AGBL1_ENST00000389298.3_Missense_Mutation_p.P793Q	p.P1062Q			WXS	Illumina GAIIx	Phase_I	Q96MI9	CBPC4_HUMAN			22	3185	+			1062					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.3185C>A	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	A	0.582	-0.836650	0.02692	.	.	ENSG00000166748	ENST00000421325;ENST00000389298	T;T	0.10668	2.88;2.85	1.11	-1.5	0.08691	.	.	.	.	.	T	0.04634	0.0126	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.37033	-0.9723	9	0.87932	D	0	.	2.8092	0.05436	0.3712:0.2493:0.3795:0.0	.	1062	Q96MI9	CBPC4_HUMAN	Q	1062;793	ENSP00000397173:P1062Q;ENSP00000373949:P793Q	ENSP00000373949:P793Q	P	+	2	0	AGBL1	85332323	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.242000	0.02908	-1.130000	0.02914	-1.402000	0.01139	CCG		0.413	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	Missense_Mutation	7	180	7	180	---	---	---	---
FES	2242	broad.mit.edu	37	15	91437271	91437271	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:91437271G>T	ENST00000328850.3	+	18	2451	c.2309G>T	c.(2308-2310)cGg>cTg	p.R770L	FES_ENST00000450438.2_Missense_Mutation_p.R642L|FES_ENST00000444422.2_Missense_Mutation_p.R700L|FES_ENST00000414248.2_Missense_Mutation_p.R642L|FES_ENST00000394300.3_Missense_Mutation_p.R712L|FES_ENST00000394302.1_Missense_Mutation_p.R629L	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	770	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CAGCAGACACGGGAGTTTGTG	0.577																																						ENST00000328850.3																			0				lung(2)|ovary(1)	3						c.(2308-2310)cGg>cTg		feline sarcoma oncogene							178.0	190.0	186.0					15																	91437271		2198	4298	6496	SO:0001583	missense	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91437271G>T	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.2309G>T	15.37:g.91437271G>T	ENSP00000331504:p.Arg770Leu		Somatic				FES_ENST00000414248.2_Missense_Mutation_p.R642L|FES_ENST00000394302.1_Missense_Mutation_p.R629L|FES_ENST00000394300.3_Missense_Mutation_p.R712L|FES_ENST00000444422.2_Missense_Mutation_p.R700L|FES_ENST00000450438.2_Missense_Mutation_p.R642L	p.R770L	NM_002005.3	NP_001996.1	WXS	Illumina GAIIx	Phase_I	P07332	FES_HUMAN	Lung(145;0.229)		18	2451	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		770			Protein kinase.		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	ENST00000328850.3	37	c.2309G>T	CCDS10365.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943135	0.53079	.	.	ENSG00000182511	ENST00000328850;ENST00000414248;ENST00000394302;ENST00000444422;ENST00000394300;ENST00000450438	T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31	5.42	4.51	0.55191	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.50735	0.1633	N	0.01705	-0.755	0.80722	D	1	D;B;D;D;B;D	0.89917	1.0;0.228;0.999;1.0;0.228;1.0	D;B;D;D;B;D	0.91635	0.999;0.156;0.997;0.998;0.156;0.999	T	0.63193	-0.6692	10	0.37606	T	0.19	-57.1808	14.3077	0.66395	0.0715:0.0:0.9285:0.0	.	752;642;629;712;700;770	B4DUD9;P07332-2;E7ENM8;P07332-3;P07332-4;P07332	.;.;.;.;.;FES_HUMAN	L	770;642;629;700;712;642	ENSP00000331504:R770L;ENSP00000414629:R642L;ENSP00000377839:R629L;ENSP00000400868:R700L;ENSP00000377837:R712L;ENSP00000409915:R642L	ENSP00000331504:R770L	R	+	2	0	FES	89238275	1.000000	0.71417	0.990000	0.47175	0.464000	0.32679	9.805000	0.99149	1.317000	0.45149	0.555000	0.69702	CGG		0.577	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		7	319	7	319	---	---	---	---
HDDC3	374659	broad.mit.edu	37	15	91475004	91475004	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:91475004G>T	ENST00000394272.3	-	3	367	c.339C>A	c.(337-339)ccC>ccA	p.P113P	AC068831.3_ENST00000448987.1_RNA|UNC45A_ENST00000394275.2_Intron|HDDC3_ENST00000330334.3_Silent_p.P113P|HDDC3_ENST00000559898.1_Silent_p.P113P|AC068831.3_ENST00000438890.1_RNA			Q8N4P3	MESH1_HUMAN	HD domain containing 3	113	HD.						guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity (GO:0008893)|metal ion binding (GO:0046872)			NS(1)|ovary(1)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GTTTGGCCCCGGGGCTACTGT	0.582											OREG0023475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330334.3																			0				NS(1)|ovary(1)	2						c.(337-339)ccC>ccA		HD domain containing 3							73.0	81.0	78.0					15																	91475004		2198	4298	6496	SO:0001819	synonymous_variant	374659						guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity|metal ion binding|phosphoric diester hydrolase activity	g.chr15:91475004G>T	AK057584	CCDS10366.1, CCDS66866.1	15q26.1	2005-08-22			ENSG00000184508	ENSG00000184508			30522	protein-coding gene	gene with protein product						12477932	Standard	NM_001286451		Approved	MGC45386	uc002bqe.4	Q8N4P3	OTTHUMG00000141260	ENST00000394272.3:c.339C>A	15.37:g.91475004G>T			Somatic	OREG0023475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1282	HDDC3_ENST00000559898.1_Silent_p.P113P|HDDC3_ENST00000394272.3_Silent_p.P113P|UNC45A_ENST00000394275.2_Intron	p.P113P	NM_198527.2	NP_940929.1	WXS	Illumina GAIIx	Phase_I	Q8N4P3	MESH1_HUMAN	Lung(145;0.189)		3	344	-	Lung NSC(78;0.0771)|all_lung(78;0.137)		113			HD.			Silent	SNP	ENST00000394272.3	37	c.339C>A																																																																																					0.582	HDDC3-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000280403.2	NM_198527		7	183	7	183	---	---	---	---
PRC1	9055	broad.mit.edu	37	15	91524744	91524744	+	Silent	SNP	T	T	C			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:91524744T>C	ENST00000361188.5	-	5	1868	c.657A>G	c.(655-657)caA>caG	p.Q219Q	PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000556129.1_5'Flank|PRC1_ENST00000394249.3_Silent_p.Q219Q|PRC1_ENST00000361919.3_Silent_p.Q219Q|PRC1_ENST00000442656.2_Silent_p.Q178Q					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GTAGCAACTTTTGTAGTGTTG	0.408																																						ENST00000361188.5																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25						c.(655-657)caA>caG		protein regulator of cytokinesis 1							131.0	118.0	123.0					15																	91524744		2198	4298	6496	SO:0001819	synonymous_variant	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91524744T>C	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.657A>G	15.37:g.91524744T>C			Somatic				PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Silent_p.Q219Q|PRC1_ENST00000442656.2_Silent_p.Q178Q|PRC1_ENST00000361919.3_Silent_p.Q219Q	p.Q219Q			WXS	Illumina GAIIx	Phase_I	O43663	PRC1_HUMAN			5	1868	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		219			Dimerization.			Silent	SNP	ENST00000361188.5	37	c.657A>G	CCDS45352.1																																																																																				0.408	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		4	57	4	57	---	---	---	---
ITFG3	83986	broad.mit.edu	37	16	314923	314923	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:314923C>A	ENST00000399932.3	+	13	2012	c.1561C>A	c.(1561-1563)Cca>Aca	p.P521T	ITFG3_ENST00000301678.3_Missense_Mutation_p.P521T|ITFG3_ENST00000442458.2_Intron|ITFG3_ENST00000450082.2_Intron|ITFG3_ENST00000301679.2_Intron|ITFG3_ENST00000600536.1_Intron	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	521						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GGACCTTGTCCCAAGCAGCAG	0.657																																						ENST00000399932.3																			0				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(1561-1563)Cca>Aca		integrin alpha FG-GAP repeat containing 3							41.0	50.0	47.0					16																	314923		2098	4208	6306	SO:0001583	missense	83986					integral to membrane		g.chr16:314923C>A	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.1561C>A	16.37:g.314923C>A	ENSP00000382814:p.Pro521Thr		Somatic				ITFG3_ENST00000442458.2_Intron|ITFG3_ENST00000301678.3_Missense_Mutation_p.P521T|ITFG3_ENST00000600536.1_Intron|ITFG3_ENST00000450082.2_Intron|ITFG3_ENST00000301679.2_Intron	p.P521T	NM_001284497.1	NP_001271426.1	WXS	Illumina GAIIx	Phase_I	Q9H0X4	ITFG3_HUMAN			13	2012	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	521					D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Missense_Mutation	SNP	ENST00000399932.3	37	c.1561C>A	CCDS10402.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.028049	0.00410	.	.	ENSG00000167930	ENST00000399932;ENST00000301678	.	.	.	5.01	3.0	0.34707	.	1.251490	0.05302	N	0.523246	T	0.29126	0.0724	L	0.38175	1.15	0.09310	N	0.999998	B	0.21225	0.053	B	0.17722	0.019	T	0.25950	-1.0117	9	0.02654	T	1	-2.7594	5.486	0.16749	0.0:0.51:0.315:0.175	.	521	Q9H0X4	ITFG3_HUMAN	T	521	.	ENSP00000301678:P521T	P	+	1	0	ITFG3	254924	0.000000	0.05858	0.004000	0.12327	0.790000	0.44656	-0.004000	0.12878	0.486000	0.27676	0.561000	0.74099	CCA		0.657	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	NM_032039		5	62	5	62	---	---	---	---
GLYR1	84656	broad.mit.edu	37	16	4882096	4882096	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:4882096C>A	ENST00000321919.9	-	5	497	c.421G>T	c.(421-423)Gga>Tga	p.G141*	GLYR1_ENST00000591451.1_Nonsense_Mutation_p.G141*|GLYR1_ENST00000381983.3_Nonsense_Mutation_p.G141*|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000436648.5_Intron	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	141					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TTTCCTTCTCCCATGTTCTTC	0.522																																						ENST00000321919.9																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(421-423)Gga>Tga		glyoxylate reductase 1 homolog (Arabidopsis)							176.0	161.0	166.0					16																	4882096		2197	4300	6497	SO:0001587	stop_gained	84656				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr16:4882096C>A	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.421G>T	16.37:g.4882096C>A	ENSP00000322716:p.Gly141*		Somatic				GLYR1_ENST00000591451.1_Nonsense_Mutation_p.G141*|GLYR1_ENST00000381983.3_Nonsense_Mutation_p.G141*|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000436648.5_Intron	p.G141*	NM_032569.3	NP_115958	WXS	Illumina GAIIx	Phase_I	Q49A26	GLYR1_HUMAN			5	497	-			141					B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Nonsense_Mutation	SNP	ENST00000321919.9	37	c.421G>T	CCDS10524.1	.	.	.	.	.	.	.	.	.	.	C	35	5.565152	0.96527	.	.	ENSG00000140632	ENST00000321919;ENST00000381983	.	.	.	5.29	5.29	0.74685	.	0.236182	0.43260	D	0.000597	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-8.1445	16.7894	0.85584	0.0:1.0:0.0:0.0	.	.	.	.	X	141	.	ENSP00000322716:G141X	G	-	1	0	GLYR1	4822097	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.583000	0.53928	2.634000	0.89283	0.650000	0.86243	GGA		0.522	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569		6	163	6	163	---	---	---	---
ERCC4	2072	broad.mit.edu	37	16	14028088	14028088	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:14028088G>T	ENST00000311895.7	+	7	1151	c.1142G>T	c.(1141-1143)tGg>tTg	p.W381L	CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	381	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AACCCAAAGTGGGAGGCACTG	0.363			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000311895.7			yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""Mis, N, F"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						c.(1141-1143)tGg>tTg	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 4							114.0	127.0	122.0					16																	14028088		2197	4300	6497	SO:0001583	missense	2072	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14028088G>T	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1142G>T	16.37:g.14028088G>T	ENSP00000310520:p.Trp381Leu		Somatic				CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	p.W381L	NM_005236.2	NP_005227.1	WXS	Illumina GAIIx	Phase_I	Q92889	XPF_HUMAN			7	1151	+			381					A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	c.1142G>T	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.993318	0.93167	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.34859	1.34	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.73385	0.3580	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81024	-0.1120	10	0.87932	D	0	-18.4463	19.2867	0.94077	0.0:0.0:1.0:0.0	.	381	Q92889	XPF_HUMAN	L	381;370	ENSP00000310520:W381L	ENSP00000310520:W381L	W	+	2	0	ERCC4	13935589	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.476000	0.97823	2.793000	0.96121	0.655000	0.94253	TGG		0.363	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		6	159	6	159	---	---	---	---
C16orf93	90835	broad.mit.edu	37	16	30771664	30771664	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:30771664G>T	ENST00000543610.1	-	4	1371	c.410C>A	c.(409-411)tCa>tAa	p.S137*	RNF40_ENST00000324685.6_5'Flank|PHKG2_ENST00000424889.3_3'UTR|RNF40_ENST00000563683.1_5'Flank|C16orf93_ENST00000541260.1_Nonsense_Mutation_p.S137*|RNF40_ENST00000357890.5_5'Flank|C16orf93_ENST00000545825.1_Nonsense_Mutation_p.S137*|RNF40_ENST00000402121.3_5'Flank|PHKG2_ENST00000563588.1_3'UTR	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	137										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						CTGCTCCAGTGAGAAGCCCTG	0.612																																						ENST00000543610.1																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						c.(409-411)tCa>tAa		chromosome 16 open reading frame 93							66.0	73.0	71.0					16																	30771664		2197	4300	6497	SO:0001587	stop_gained	90835							g.chr16:30771664G>T	BC042548	CCDS32434.1, CCDS32434.2, CCDS55993.1	16p11.2	2012-10-10			ENSG00000196118	ENSG00000196118			28078	protein-coding gene	gene with protein product							Standard	NM_001195620		Approved	MGC104706	uc002dzm.3	A1A4V9	OTTHUMG00000167926	ENST00000543610.1:c.410C>A	16.37:g.30771664G>T	ENSP00000437532:p.Ser137*		Somatic				PHKG2_ENST00000424889.3_3'UTR|C16orf93_ENST00000545825.1_Nonsense_Mutation_p.S137*|PHKG2_ENST00000563588.1_3'UTR|C16orf93_ENST00000541260.1_Nonsense_Mutation_p.S137*	p.S137*	NM_001014979.2	NP_001014979.2	WXS	Illumina GAIIx	Phase_I	A1A4V9	CP093_HUMAN			4	1371	-			137					A1A4V8|F5GX13|Q569G2	Nonsense_Mutation	SNP	ENST00000543610.1	37	c.410C>A	CCDS32434.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.873258|5.873258	0.97049|0.97049	.|.	.|.	ENSG00000196118|ENSG00000196118	ENST00000535476|ENST00000354963;ENST00000543610;ENST00000545825	.|.	.|.	.|.	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	.|0.221447	.|0.31872	.|N	.|0.006938	T|.	0.32071|.	0.0817|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.18147|.	-1.0346|.	4|.	.|0.02654	.|T	.|1	-12.2442|-12.2442	10.3721|10.3721	0.44060|0.44060	0.0:0.0:0.6928:0.3072|0.0:0.0:0.6928:0.3072	.|.	.|.	.|.	.|.	N|X	34|100;137;137	.|.	.|ENSP00000347050:S100X	H|S	-|-	1|2	0|0	C16orf93|C16orf93	30679165|30679165	0.947000|0.947000	0.32204|0.32204	0.986000|0.986000	0.45419|0.45419	0.973000|0.973000	0.67179|0.67179	1.455000|1.455000	0.35190|0.35190	2.474000|2.474000	0.83562|0.83562	0.462000|0.462000	0.41574|0.41574	CAC|TCA		0.612	C16orf93-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397089.1	NM_001014979		5	83	5	83	---	---	---	---
BCKDK	10295	broad.mit.edu	37	16	31122021	31122021	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:31122021G>T	ENST00000394951.1	+	9	1278	c.655G>T	c.(655-657)Ggc>Tgc	p.G219C	BCKDK_ENST00000394950.3_Missense_Mutation_p.G219C|AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000287507.3_Missense_Mutation_p.G219C|BCKDK_ENST00000219794.6_Missense_Mutation_p.G219C			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	219	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						TGACTTTGTCGGCATCATCTG	0.572																																						ENST00000394951.1																			0				breast(1)|stomach(1)	2						c.(655-657)Ggc>Tgc		branched chain ketoacid dehydrogenase kinase							124.0	126.0	125.0					16																	31122021		2197	4300	6497	SO:0001583	missense	10295				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity	g.chr16:31122021G>T	AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.655G>T	16.37:g.31122021G>T	ENSP00000378405:p.Gly219Cys		Somatic				BCKDK_ENST00000287507.3_Missense_Mutation_p.G219C|BCKDK_ENST00000219794.6_Missense_Mutation_p.G219C|BCKDK_ENST00000394950.3_Missense_Mutation_p.G219C	p.G219C			WXS	Illumina GAIIx	Phase_I	O14874	BCKD_HUMAN			9	1278	+			219			Histidine kinase.		A8MY43|Q6FGL4|Q96G95|Q96IN5	Missense_Mutation	SNP	ENST00000394951.1	37	c.655G>T	CCDS10705.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200366	0.79015	.	.	ENSG00000103507	ENST00000394951;ENST00000219794;ENST00000394950;ENST00000287507	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	4.52	4.52	0.55395	ATPase-like, ATP-binding domain (1);Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (2);	0.049097	0.85682	D	0.000000	D	0.87394	0.6166	H	0.95982	3.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91502	0.5220	10	0.87932	D	0	-24.3066	16.562	0.84569	0.0:0.0:1.0:0.0	.	219;219	Q96G95;O14874	.;BCKD_HUMAN	C	219	ENSP00000378405:G219C;ENSP00000219794:G219C;ENSP00000378404:G219C;ENSP00000287507:G219C	ENSP00000219794:G219C	G	+	1	0	BCKDK	31029522	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.278000	0.89899	2.503000	0.84419	0.655000	0.94253	GGC		0.572	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1	NM_005881		7	210	7	210	---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31422456	31422456	+	Silent	SNP	C	C	A	rs138291839	byFrequency	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:31422456C>A	ENST00000389202.2	+	13	1465	c.1416C>A	c.(1414-1416)acC>acA	p.T472T		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	472					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATGGCAGCACCGACCTGATCC	0.647																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1414-1416)acC>acA		integrin, alpha D		C		0,4394		0,0,2197	76.0	72.0	74.0		1416	-7.6	0.3	16	dbSNP_134	74	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ITGAD	NM_005353.2		0,2,6495	AA,AC,CC		0.0233,0.0,0.0154		472/1162	31422456	2,12992	2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31422456C>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.1416C>A	16.37:g.31422456C>A			Somatic					p.T472T	NM_005353.2	NP_005344.2	WXS	Illumina GAIIx	Phase_I	Q13349	ITAD_HUMAN			13	1465	+			472					Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.1416C>A	CCDS32438.1																																																																																				0.647	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		5	109	5	109	---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31427854	31427854	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:31427854C>A	ENST00000389202.2	+	20	2435	c.2386C>A	c.(2386-2388)Ctg>Atg	p.L796M		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	796					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGGAGCTCCCTGGAGCTCAA	0.617																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2386-2388)Ctg>Atg		integrin, alpha D							109.0	98.0	102.0					16																	31427854		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31427854C>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2386C>A	16.37:g.31427854C>A	ENSP00000373854:p.Leu796Met		Somatic					p.L796M	NM_005353.2	NP_005344.2	WXS	Illumina GAIIx	Phase_I	Q13349	ITAD_HUMAN			20	2435	+			796					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.2386C>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	C	9.513	1.106191	0.20632	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.45668	0.89	4.83	1.28	0.21552	Integrin alpha-2 (1);	.	.	.	.	T	0.42449	0.1203	M	0.71036	2.16	0.09310	N	0.999999	P;P	0.35192	0.489;0.489	B;B	0.40375	0.327;0.327	T	0.37454	-0.9705	9	0.48119	T	0.1	.	4.7726	0.13164	0.1611:0.6219:0.0:0.217	.	812;796	Q59H14;Q13349	.;ITAD_HUMAN	M	812;796	ENSP00000373854:L796M	ENSP00000373854:L796M	L	+	1	2	ITGAD	31335355	0.007000	0.16637	0.316000	0.25252	0.023000	0.10783	1.170000	0.31883	-0.028000	0.13850	-0.142000	0.14014	CTG		0.617	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		6	133	6	133	---	---	---	---
IRX5	10265	broad.mit.edu	37	16	54966433	54966433	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:54966433C>A	ENST00000394636.4	+	2	610	c.273C>A	c.(271-273)ccC>ccA	p.P91P	IRX5_ENST00000560154.1_Intron|IRX5_ENST00000320990.5_Silent_p.P91P|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000558597.1_Silent_p.P25P			P78411	IRX5_HUMAN	iroquois homeobox 5	91					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						ACCACACACCCGGCATGGCGG	0.652																																						ENST00000394636.4																			0				kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						c.(271-273)ccC>ccA		iroquois homeobox 5							43.0	49.0	47.0					16																	54966433		2198	4300	6498	SO:0001819	synonymous_variant	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54966433C>A	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.273C>A	16.37:g.54966433C>A			Somatic				IRX5_ENST00000320990.5_Silent_p.P91P|IRX5_ENST00000558597.1_Silent_p.P25P|IRX5_ENST00000560154.1_Intron	p.P91P			WXS	Illumina GAIIx	Phase_I	P78411	IRX5_HUMAN			2	610	+			91					H0YMS7|P78416|Q7Z2E1	Silent	SNP	ENST00000394636.4	37	c.273C>A	CCDS10751.1																																																																																				0.652	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			5	100	5	100	---	---	---	---
AMFR	267	broad.mit.edu	37	16	56423200	56423200	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:56423200C>A	ENST00000290649.5	-	9	1383	c.1173G>T	c.(1171-1173)agG>agT	p.R391S		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	391					aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GATGTTCTTCCCTGACACGAT	0.458																																					Pancreas(2;144 323 39528)	ENST00000290649.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1171-1173)agG>agT		autocrine motility factor receptor, E3 ubiquitin protein ligase							161.0	145.0	150.0					16																	56423200		2198	4300	6498	SO:0001583	missense	267				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:56423200C>A	L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"""RING-type (C3HC4) zinc fingers"""	463	protein-coding gene	gene with protein product		603243	"""autocrine motility factor receptor"""			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.1173G>T	16.37:g.56423200C>A	ENSP00000290649:p.Arg391Ser		Somatic					p.R391S	NM_001144.5	NP_001135.3	WXS	Illumina GAIIx	Phase_I	Q9UKV5	AMFR2_HUMAN			9	1383	-			391					P26442|Q8IZ70	Missense_Mutation	SNP	ENST00000290649.5	37	c.1173G>T	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.585703	0.46110	.	.	ENSG00000159461	ENST00000290649	T	0.16597	2.33	5.92	2.4	0.29515	.	0.042152	0.85682	D	0.000000	T	0.13372	0.0324	L	0.51422	1.61	0.58432	D	0.999999	B	0.19706	0.038	B	0.20955	0.032	T	0.08330	-1.0727	10	0.30078	T	0.28	-20.3337	5.0418	0.14463	0.1222:0.6144:0.1191:0.1444	.	391	Q9UKV5	AMFR2_HUMAN	S	391	ENSP00000290649:R391S	ENSP00000290649:R391S	R	-	3	2	AMFR	54980701	0.991000	0.36638	1.000000	0.80357	0.992000	0.81027	0.359000	0.20233	0.811000	0.34303	0.585000	0.79938	AGG		0.458	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2			6	105	6	105	---	---	---	---
CDH1	999	broad.mit.edu	37	16	68849503	68849503	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:68849503C>A	ENST00000261769.5	+	10	1597	c.1406C>A	c.(1405-1407)tCc>tAc	p.S469Y	CDH1_ENST00000422392.2_Missense_Mutation_p.S408Y|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	469	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CTCACCACCTCCACAGCCACC	0.532			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													ENST00000261769.5			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""Mis, N, F, S"""	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	"""lobular breast, gastric"""		1	Unknown(1)	p.?(1)	breast(1)	NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311						c.(1405-1407)tCc>tAc		cadherin 1, type 1, E-cadherin (epithelial)							170.0	144.0	153.0					16																	68849503		2198	4300	6498	SO:0001583	missense	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68849503C>A	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1406C>A	16.37:g.68849503C>A	ENSP00000261769:p.Ser469Tyr		Somatic				RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Missense_Mutation_p.S408Y|CDH1_ENST00000562836.1_3'UTR	p.S469Y	NM_004360.3	NP_004351.1	WXS	Illumina GAIIx	Phase_I	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	10	1597	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	469			Cadherin 3.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.1406C>A	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251529	0.80135	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.57436	0.51;0.4	5.7	4.75	0.60458	Cadherin (4);Cadherin-like (1);	0.000000	0.48286	D	0.000199	T	0.80199	0.4579	H	0.95437	3.67	0.53688	D	0.999976	D;D	0.89917	0.999;1.0	D;D	0.91635	0.976;0.999	D	0.86236	0.1640	10	0.87932	D	0	.	14.1897	0.65630	0.0:0.9277:0.0:0.0723	.	408;469	Q9UII8;P12830	.;CADH1_HUMAN	Y	469;487;469;408	ENSP00000261769:S469Y;ENSP00000414946:S408Y	ENSP00000261769:S469Y	S	+	2	0	CDH1	67407004	1.000000	0.71417	0.997000	0.53966	0.769000	0.43574	5.633000	0.67825	1.421000	0.47157	0.555000	0.69702	TCC		0.532	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		6	140	6	140	---	---	---	---
WDR59	79726	broad.mit.edu	37	16	74919621	74919621	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:74919621C>A	ENST00000262144.6	-	25	2749	c.2619G>T	c.(2617-2619)tgG>tgT	p.W873C		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	873										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CTCTCAGACCCCAACGGTAGA	0.463																																						ENST00000262144.6																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(2617-2619)tgG>tgT		WD repeat domain 59							111.0	102.0	105.0					16																	74919621		2198	4300	6498	SO:0001583	missense	79726							g.chr16:74919621C>A	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.2619G>T	16.37:g.74919621C>A	ENSP00000262144:p.Trp873Cys		Somatic					p.W873C	NM_030581.3	NP_085058.3	WXS	Illumina GAIIx	Phase_I	Q6PJI9	WDR59_HUMAN			25	2749	-			873					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	c.2619G>T	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352664	0.82132	.	.	ENSG00000103091	ENST00000262144	T	0.77489	-1.1	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.90048	0.6892	M	0.87328	2.875	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	D	0.91551	0.5257	10	0.87932	D	0	-15.3686	19.0883	0.93215	0.0:1.0:0.0:0.0	.	873;318	Q6PJI9;Q6PJI9-4	WDR59_HUMAN;.	C	873	ENSP00000262144:W873C	ENSP00000262144:W873C	W	-	3	0	WDR59	73477122	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.800000	0.85949	2.500000	0.84329	0.561000	0.74099	TGG		0.463	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		6	84	6	84	---	---	---	---
OVCA2	124641	broad.mit.edu	37	17	1946353	1946353	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:1946353C>A	ENST00000572195.1	+	2	654	c.639C>A	c.(637-639)ccC>ccA	p.P213P	DPH1_ENST00000263083.6_3'UTR|RP11-667K14.3_ENST00000572790.1_lincRNA|RP11-667K14.4_ENST00000572404.1_RNA	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN	ovarian tumor suppressor candidate 2	213					metabolic process (GO:0008152)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)										CAGCTGCACCCCAGCGTCAGG	0.562											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000572195.1																			0											c.(637-639)ccC>ccA		ovarian tumor suppressor candidate 2							70.0	78.0	76.0					17																	1946353		2203	4300	6503	SO:0001819	synonymous_variant	124641				response to retinoic acid	cytoplasm	hydrolase activity	g.chr17:1946353C>A	AF321875	CCDS11015.1	17p13.3	2012-10-08			ENSG00000262664	ENSG00000262664			24203	protein-coding gene	gene with protein product	"""candidate tumor suppressor in ovarian cancer 2"""	607896				11979432, 8616839, 16368187	Standard	NM_080822		Approved		uc002ftx.3	Q8WZ82	OTTHUMG00000132471	ENST00000572195.1:c.639C>A	17.37:g.1946353C>A			Somatic	OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	599	RP11-667K14.4_ENST00000572404.1_RNA|DPH1_ENST00000263083.6_3'UTR	p.P213P	NM_080822.2	NP_543012.1	WXS	Illumina GAIIx	Phase_I	Q8WZ82	OVCA2_HUMAN			2	654	+			213					Q86XN3|Q8IW87|Q9UCX9	Silent	SNP	ENST00000572195.1	37	c.639C>A	CCDS11015.1																																																																																				0.562	OVCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255636.5	NM_080822		6	115	6	115	---	---	---	---
GP1BA	2811	broad.mit.edu	37	17	4837468	4837468	+	Silent	SNP	C	C	A	rs372508964		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:4837468C>A	ENST00000329125.5	+	2	1644	c.1569C>A	c.(1567-1569)ccC>ccA	p.P523P		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	523					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TTCTCCACCCCGACTTTTGCT	0.562																																						ENST00000329125.5																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						c.(1567-1569)ccC>ccA		glycoprotein Ib (platelet), alpha polypeptide							83.0	87.0	86.0					17																	4837468		1945	4139	6084	SO:0001819	synonymous_variant	2811							g.chr17:4837468C>A		CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.1569C>A	17.37:g.4837468C>A			Somatic					p.P523P	NM_000173.5	NP_000164.5	WXS	Illumina GAIIx	Phase_I	E7ES66	E7ES66_HUMAN			2	1644	+			523					E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Silent	SNP	ENST00000329125.5	37	c.1569C>A	CCDS54068.1																																																																																				0.562	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439889.1			6	120	6	120	---	---	---	---
DHX33	56919	broad.mit.edu	37	17	5366889	5366889	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:5366889G>C	ENST00000225296.3	-	2	610	c.410C>G	c.(409-411)aCt>aGt	p.T137S	DHX33_ENST00000433302.3_Intron	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	137	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGAGACTCTAGTAGCAAGAGA	0.512																																						ENST00000225296.3																			0				breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(409-411)aCt>aGt		DEAH (Asp-Glu-Ala-His) box polypeptide 33							121.0	116.0	118.0					17																	5366889		2203	4300	6503	SO:0001583	missense	56919					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:5366889G>C	AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"""DEAH-boxes"""	16718	protein-coding gene	gene with protein product		614405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"""	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.410C>G	17.37:g.5366889G>C	ENSP00000225296:p.Thr137Ser		Somatic				DHX33_ENST00000433302.3_Intron	p.T137S	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	WXS	Illumina GAIIx	Phase_I	Q9H6R0	DHX33_HUMAN			2	610	-			137			Helicase ATP-binding.		B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Missense_Mutation	SNP	ENST00000225296.3	37	c.410C>G	CCDS11072.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354833	0.41700	.	.	ENSG00000005100	ENST00000225296	T	0.07688	3.17	5.04	5.04	0.67666	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.157579	0.56097	D	0.000028	T	0.08626	0.0214	L	0.27053	0.805	0.80722	D	1	B	0.17038	0.02	B	0.15870	0.014	T	0.15694	-1.0428	10	0.62326	D	0.03	.	17.3684	0.87369	0.0:0.0:1.0:0.0	.	137	Q9H6R0	DHX33_HUMAN	S	137	ENSP00000225296:T137S	ENSP00000225296:T137S	T	-	2	0	DHX33	5307613	0.837000	0.29446	0.980000	0.43619	0.997000	0.91878	3.885000	0.56182	2.340000	0.79590	0.563000	0.77884	ACT		0.512	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2	NM_020162		3	157	3	157	---	---	---	---
SHBG	6462	broad.mit.edu	37	17	7535319	7535319	+	Missense_Mutation	SNP	C	C	A	rs140325118		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:7535319C>A	ENST00000380450.4	+	6	869	c.838C>A	c.(838-840)Cac>Aac	p.H280N	SHBG_ENST00000572182.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000441599.2_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000574539.1_Missense_Mutation_p.H222N|SHBG_ENST00000575903.1_Missense_Mutation_p.H262N|SHBG_ENST00000576728.1_Missense_Mutation_p.H168N|SHBG_ENST00000572262.1_Missense_Mutation_p.H168N|SHBG_ENST00000575314.1_Missense_Mutation_p.H222N|SHBG_ENST00000340624.5_Missense_Mutation_p.H222N|SHBG_ENST00000416273.3_Missense_Mutation_p.H280N	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	280	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Drostanolone(DB00858)|Estradiol(DB00783)|Estropipate(DB04574)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Methyltestosterone(DB06710)|Mitotane(DB00648)|Norethindrone(DB00717)|Spironolactone(DB00421)|Testosterone(DB00624)|transdermal testosterone gel(DB05275)	GCTCAGTCTCCACCTCCAAGA	0.562																																						ENST00000380450.4																			2	Unknown(1)|Whole gene deletion(1)	p.0?(1)|p.?(1)	haematopoietic_and_lymphoid_tissue(1)|bone(1)	cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10						c.(838-840)Cac>Aac		sex hormone-binding globulin	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)						110.0	115.0	113.0					17																	7535319		2203	4300	6503	SO:0001583	missense	6462				hormone transport	extracellular region	androgen binding|protein homodimerization activity	g.chr17:7535319C>A		CCDS11117.1, CCDS54082.1, CCDS54083.1, CCDS58513.1, CCDS73961.1, CCDS73962.1	17p13.1	2013-09-19			ENSG00000129214	ENSG00000129214			10839	protein-coding gene	gene with protein product	"""androgen binding protein"""	182205				2587256	Standard	NM_001146279		Approved	ABP, TEBG, MGC126834, MGC138391	uc002gie.2	P04278	OTTHUMG00000108153	ENST00000380450.4:c.838C>A	17.37:g.7535319C>A	ENSP00000369816:p.His280Asn		Somatic				SHBG_ENST00000340624.5_Missense_Mutation_p.H222N|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000416273.3_Missense_Mutation_p.H280N|SHBG_ENST00000576728.1_Missense_Mutation_p.H168N|SHBG_ENST00000441599.2_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000574539.1_Missense_Mutation_p.H222N|SHBG_ENST00000575314.1_Missense_Mutation_p.H222N|SHBG_ENST00000572262.1_Missense_Mutation_p.H168N|SHBG_ENST00000575903.1_Missense_Mutation_p.H262N	p.H280N	NM_001040.3	NP_001031.2	WXS	Illumina GAIIx	Phase_I	P04278	SHBG_HUMAN		READ - Rectum adenocarcinoma(115;0.168)	6	869	+		all_cancers(10;0.0867)	280			Laminin G-like 2.		B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Missense_Mutation	SNP	ENST00000380450.4	37	c.838C>A	CCDS11117.1	.	.	.	.	.	.	.	.	.	.	C	0.964	-0.702265	0.03255	.	.	ENSG00000129214	ENST00000340624;ENST00000416273;ENST00000441313;ENST00000380450	D;D;T	0.87029	-2.2;-1.98;-1.23	4.52	-0.0608	0.13788	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	1.711010	0.02572	N	0.097920	T	0.82167	0.4978	M	0.61703	1.905	0.19775	N	0.999956	B;P;B;B;B;B	0.38504	0.277;0.634;0.039;0.09;0.09;0.181	B;B;B;B;B;B	0.33620	0.109;0.167;0.023;0.014;0.051;0.022	T	0.64609	-0.6367	10	0.19590	T	0.45	-1.7004	4.1501	0.10234	0.0:0.5062:0.1862:0.3076	.	280;275;226;199;280;222	F5H5Z8;P04278-2;E9PH59;B0FWH5;P04278;B4DYU0	.;.;.;.;SHBG_HUMAN;.	N	222;280;226;280	ENSP00000345675:H222N;ENSP00000388867:H280N;ENSP00000369816:H280N	ENSP00000345675:H222N	H	+	1	0	SHBG	7476044	0.000000	0.05858	0.594000	0.28785	0.044000	0.14063	-0.331000	0.07914	0.171000	0.19730	-1.008000	0.02478	CAC		0.562	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226957.2	NM_001040		7	205	7	205	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7727981	7727981	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:7727981C>A	ENST00000572933.1	+	77	13249	c.11789C>A	c.(11788-11790)cCc>cAc	p.P3930H	DNAH2_ENST00000389173.2_Missense_Mutation_p.P3930H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3930	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGCTCCATCCCCCACCCAGAC	0.552																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(11788-11790)cCc>cAc		dynein, axonemal, heavy chain 2							139.0	118.0	125.0					17																	7727981		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7727981C>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.11789C>A	17.37:g.7727981C>A	ENSP00000458355:p.Pro3930His		Somatic				DNAH2_ENST00000389173.2_Missense_Mutation_p.P3930H	p.P3930H			WXS	Illumina GAIIx	Phase_I	Q9P225	DYH2_HUMAN			77	13249	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3930			AAA 6 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.11789C>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216103	0.79352	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.10668	2.85	4.41	4.41	0.53225	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.51176	0.1659	H	0.98866	4.355	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.72338	0.961;0.977	T	0.73665	-0.3911	10	0.87932	D	0	.	15.9206	0.79562	0.0:1.0:0.0:0.0	.	3891;3930	Q9P225-2;Q9P225	.;DYH2_HUMAN	H	3891;3930	ENSP00000373825:P3930H	ENSP00000353818:P3891H	P	+	2	0	DNAH2	7668706	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.274000	0.58921	2.292000	0.77174	0.505000	0.49811	CCC		0.552	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		7	132	7	132	---	---	---	---
RAB11FIP4	84440	broad.mit.edu	37	17	29849385	29849385	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:29849385C>A	ENST00000325874.8	+	7	1130	c.901C>A	c.(901-903)Cga>Aga	p.R301R	RAB11FIP4_ENST00000394744.2_Silent_p.R199R	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	301	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TAGCCCCAACCGAAAGATCTC	0.577																																						ENST00000325874.8																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(901-903)Cga>Aga		RAB11 family interacting protein 4 (class II)							142.0	124.0	130.0					17																	29849385		2203	4300	6503	SO:0001819	synonymous_variant	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29849385C>A	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.901C>A	17.37:g.29849385C>A			Somatic				RAB11FIP4_ENST00000394744.2_Silent_p.R199R	p.R301R	NM_032932.3	NP_116321.2	WXS	Illumina GAIIx	Phase_I	Q86YS3	RFIP4_HUMAN			7	1130	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	301			Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Silent	SNP	ENST00000325874.8	37	c.901C>A	CCDS11267.1																																																																																				0.577	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932		5	117	5	117	---	---	---	---
HEATR9	256957	broad.mit.edu	37	17	34185976	34185976	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:34185976C>A	ENST00000311880.2	-	9	1003	c.855G>T	c.(853-855)ctG>ctT	p.L285L	C17orf66_ENST00000592980.1_Silent_p.L245L	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		285					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TCAGGAAACCCAGGCACAGGG	0.567																																						ENST00000311880.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38						c.(853-855)ctG>ctT		chromosome 17 open reading frame 66							94.0	77.0	82.0					17																	34185976		2203	4300	6503	SO:0001819	synonymous_variant	256957						binding	g.chr17:34185976C>A																												ENST00000311880.2:c.855G>T	17.37:g.34185976C>A			Somatic				C17orf66_ENST00000592980.1_Silent_p.L245L	p.L285L	NM_152781.2	NP_689994.2	WXS	Illumina GAIIx	Phase_I	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	9	1003	-		Ovarian(249;0.17)	285					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Silent	SNP	ENST00000311880.2	37	c.855G>T	CCDS11299.1																																																																																				0.567	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			5	80	5	80	---	---	---	---
MRPL45	84311	broad.mit.edu	37	17	36476512	36476512	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:36476512G>T	ENST00000312513.5	+	6	682	c.521G>T	c.(520-522)tGg>tTg	p.W174L		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	174						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GACATGACTTGGGACATCAAA	0.473																																						ENST00000312513.5																			0				breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13						c.(520-522)tGg>tTg		mitochondrial ribosomal protein L45							192.0	181.0	185.0					17																	36476512		2203	4300	6503	SO:0001583	missense	84311				intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome	g.chr17:36476512G>T	BC006235	CCDS11326.1, CCDS74047.1	17q21.2	2014-05-06			ENSG00000174100	ENSG00000278845		"""Mitochondrial ribosomal proteins / large subunits"""	16651	protein-coding gene	gene with protein product		611850				11551941, 12706105	Standard	XM_006725366		Approved	MGC11321	uc002hpy.3	Q9BRJ2	OTTHUMG00000188489	ENST00000312513.5:c.521G>T	17.37:g.36476512G>T	ENSP00000308901:p.Trp174Leu		Somatic					p.W174L	NM_032351.4	NP_115727.4	WXS	Illumina GAIIx	Phase_I	Q9BRJ2	RM45_HUMAN			6	682	+	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	174					A1L436|Q6ZMJ5	Missense_Mutation	SNP	ENST00000312513.5	37	c.521G>T	CCDS11326.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550190	0.27652	.	.	ENSG00000174100	ENST00000312513	T	0.75938	-0.98	5.0	4.03	0.46877	.	0.165657	0.51477	D	0.000096	T	0.67655	0.2916	L	0.44542	1.39	0.37624	D	0.921419	B	0.27013	0.166	B	0.31946	0.138	T	0.67055	-0.5767	10	0.29301	T	0.29	-0.389	13.2514	0.60053	0.0773:0.0:0.9227:0.0	.	174	Q9BRJ2	RM45_HUMAN	L	174	ENSP00000308901:W174L	ENSP00000308901:W174L	W	+	2	0	MRPL45	33730039	1.000000	0.71417	0.999000	0.59377	0.301000	0.27625	7.818000	0.86416	1.328000	0.45358	0.455000	0.32223	TGG		0.473	MRPL45-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256792.3	NM_032351		7	242	7	242	---	---	---	---
PIP4K2B	8396	broad.mit.edu	37	17	36935636	36935636	+	Splice_Site	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:36935636C>A	ENST00000269554.3	-	5	1134	c.654G>T	c.(652-654)aaG>aaT	p.K218N	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	218	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						AGCCCTTTACCTTGAGGTCAT	0.552																																						ENST00000269554.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						c.(652-654)aaG>aaT		phosphatidylinositol-5-phosphate 4-kinase, type II, beta							163.0	139.0	147.0					17																	36935636		2203	4300	6503	SO:0001630	splice_region_variant	8396				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity	g.chr17:36935636C>A	U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"""phosphatidylinositol-4-phosphate 5-kinase, type II, beta"""	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.654+1G>T	17.37:g.36935636C>A			Somatic				PIP4K2B_ENST00000311500.6_5'UTR	p.K218N	NM_003559.4	NP_003550.1	WXS	Illumina GAIIx	Phase_I	P78356	PI42B_HUMAN			5	1134	-			218			PIPK.		Q5U0E8|Q8TBP2	Splice_Site	SNP	ENST00000269554.3	37	c.654G>T	CCDS11329.1	.	.	.	.	.	.	.	.	.	.	C	33	5.231757	0.95207	.	.	ENSG00000141720	ENST00000269554;ENST00000311500	D	0.85171	-1.95	5.1	5.1	0.69264	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.95825	0.8641	H	0.98802	4.335	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.993;0.987;0.996	D	0.97530	1.0079	9	.	.	.	-23.088	17.237	0.87001	0.0:1.0:0.0:0.0	.	218;218;218	C9JMM2;P78356-2;P78356	.;.;PI42B_HUMAN	N	218	ENSP00000269554:K218N	.	K	-	3	2	PIP4K2B	34189162	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.317000	0.79018	2.649000	0.89929	0.655000	0.94253	AAG		0.552	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559	Missense_Mutation	6	156	6	156	---	---	---	---
STAC2	342667	broad.mit.edu	37	17	37371269	37371269	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:37371269C>A	ENST00000333461.5	-	6	1076	c.707G>T	c.(706-708)cGg>cTg	p.R236L		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	236					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CAGCTCATCCCGCTCACTCTA	0.627																																						ENST00000333461.5																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						c.(706-708)cGg>cTg		SH3 and cysteine rich domain 2							162.0	148.0	153.0					17																	37371269		2203	4300	6503	SO:0001583	missense	342667				intracellular signal transduction		metal ion binding	g.chr17:37371269C>A	AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.707G>T	17.37:g.37371269C>A	ENSP00000327509:p.Arg236Leu		Somatic					p.R236L	NM_198993.3	NP_945344.1	WXS	Illumina GAIIx	Phase_I	Q6ZMT1	STAC2_HUMAN			6	1076	-			236					Q32MA3	Missense_Mutation	SNP	ENST00000333461.5	37	c.707G>T	CCDS11335.1	.	.	.	.	.	.	.	.	.	.	c	12.37	1.916949	0.33815	.	.	ENSG00000141750	ENST00000333461	T	0.79352	-1.26	4.89	3.92	0.45320	.	0.629622	0.15044	N	0.283707	T	0.60650	0.2285	N	0.16368	0.405	0.33880	D	0.636058	B	0.25609	0.13	B	0.18871	0.023	T	0.62048	-0.6936	10	0.20046	T	0.44	-17.9164	11.2944	0.49269	0.0:0.9091:0.0:0.0909	.	236	Q6ZMT1	STAC2_HUMAN	L	236	ENSP00000327509:R236L	ENSP00000327509:R236L	R	-	2	0	STAC2	34624795	0.992000	0.36948	1.000000	0.80357	0.973000	0.67179	1.355000	0.34068	1.192000	0.43071	0.506000	0.49869	CGG		0.627	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	NM_198993		5	178	5	178	---	---	---	---
FBXL20	84961	broad.mit.edu	37	17	37439105	37439105	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:37439105C>A	ENST00000264658.6	-	8	758	c.498G>T	c.(496-498)gaG>gaT	p.E166D	FBXL20_ENST00000583610.1_Missense_Mutation_p.E166D|FBXL20_ENST00000577399.1_Missense_Mutation_p.E168D|FBXL20_ENST00000394294.3_Missense_Mutation_p.E134D	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	166					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			GTGGACATCCCTCACTTAGGA	0.418																																						ENST00000264658.6																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(496-498)gaG>gaT		F-box and leucine-rich repeat protein 20							115.0	109.0	111.0					17																	37439105		2203	4300	6503	SO:0001583	missense	84961					cytoplasm		g.chr17:37439105C>A	BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"""F-boxes / Leucine-rich repeats"""	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.498G>T	17.37:g.37439105C>A	ENSP00000264658:p.Glu166Asp		Somatic				FBXL20_ENST00000583610.1_Missense_Mutation_p.E166D|FBXL20_ENST00000577399.1_Missense_Mutation_p.E168D|FBXL20_ENST00000394294.3_Missense_Mutation_p.E134D	p.E166D	NM_032875.2	NP_116264.2	WXS	Illumina GAIIx	Phase_I	Q96IG2	FXL20_HUMAN	LUAD - Lung adenocarcinoma(14;0.146)		8	758	-			166					A8K729|Q38J52	Missense_Mutation	SNP	ENST00000264658.6	37	c.498G>T	CCDS32640.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.722293	0.30503	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	T;T	0.30182	4.45;1.54	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.19208	0.0461	N	0.11131	0.1	0.80722	D	1	B;B	0.13145	0.007;0.001	B;B	0.11329	0.006;0.006	T	0.09509	-1.0671	10	0.13108	T	0.6	.	19.0851	0.93200	0.0:1.0:0.0:0.0	.	134;166	Q96IG2-2;Q96IG2	.;FXL20_HUMAN	D	166;134	ENSP00000264658:E166D;ENSP00000377832:E134D	ENSP00000264658:E166D	E	-	3	2	FBXL20	34692631	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.383000	0.59600	2.602000	0.87976	0.591000	0.81541	GAG		0.418	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	NM_032875		6	124	6	124	---	---	---	---
CNTNAP1	8506	broad.mit.edu	37	17	40843415	40843415	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:40843415G>T	ENST00000264638.4	+	15	2447	c.2230G>T	c.(2230-2232)Gga>Tga	p.G744*	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	744	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AACTGACAAGGGACTGCTGAC	0.592																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2230-2232)Gga>Tga		contactin associated protein 1							93.0	78.0	83.0					17																	40843415		2203	4300	6503	SO:0001587	stop_gained	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40843415G>T	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2230G>T	17.37:g.40843415G>T	ENSP00000264638:p.Gly744*		Somatic				CTD-3193K9.3_ENST00000592440.1_RNA	p.G744*	NM_003632.2	NP_003623.1	WXS	Illumina GAIIx	Phase_I	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	15	2447	+		Breast(137;0.000143)	744			Fibrinogen C-terminal.			Nonsense_Mutation	SNP	ENST00000264638.4	37	c.2230G>T	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	42	9.167306	0.99087	.	.	ENSG00000108797	ENST00000264638	.	.	.	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1626	0.93539	0.0:0.0:1.0:0.0	.	.	.	.	X	744	.	ENSP00000264638:G744X	G	+	1	0	CNTNAP1	38096941	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.657000	0.98554	2.768000	0.95171	0.561000	0.74099	GGA		0.592	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		5	47	5	47	---	---	---	---
HOXB1	3211	broad.mit.edu	37	17	46608050	46608050	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:46608050C>A	ENST00000239174.6	-	1	309	c.217G>T	c.(217-219)Ggg>Tgg	p.G73W	HOXB1_ENST00000577092.1_Missense_Mutation_p.G73W	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	73					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)	p.G73W(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AAGGGCACCCCCAGGGTCGAA	0.672																																						ENST00000239174.6																			1	Substitution - Missense(1)	p.G73W(1)	lung(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(217-219)Ggg>Tgg		homeobox B1							32.0	39.0	37.0					17																	46608050		2203	4299	6502	SO:0001583	missense	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46608050C>A		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.217G>T	17.37:g.46608050C>A	ENSP00000355140:p.Gly73Trp		Somatic				HOXB1_ENST00000577092.1_Missense_Mutation_p.G73W	p.G73W	NM_002144.3	NP_002135.2	WXS	Illumina GAIIx	Phase_I	P14653	HXB1_HUMAN			1	309	-			73					Q4VB03	Missense_Mutation	SNP	ENST00000239174.6	37	c.217G>T	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572407	0.45798	.	.	ENSG00000120094	ENST00000239174	D	0.90324	-2.65	4.57	4.57	0.56435	.	0.000000	0.44483	D	0.000441	D	0.94182	0.8133	M	0.70595	2.14	0.49582	D	0.999803	D	0.76494	0.999	D	0.75020	0.985	D	0.94569	0.7769	10	0.87932	D	0	.	13.323	0.60444	0.1585:0.8414:0.0:0.0	.	73	P14653	HXB1_HUMAN	W	73	ENSP00000355140:G73W	ENSP00000355140:G73W	G	-	1	0	HOXB1	43963049	0.971000	0.33674	0.996000	0.52242	0.595000	0.36748	1.952000	0.40343	2.371000	0.80710	0.551000	0.68910	GGG		0.672	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			5	74	5	74	---	---	---	---
SMG8	55181	broad.mit.edu	37	17	57290243	57290243	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:57290243C>A	ENST00000543872.2	+	4	2323	c.2059C>A	c.(2059-2061)Caa>Aaa	p.Q687K	SMG8_ENST00000580498.1_3'UTR|SMG8_ENST00000300917.5_Missense_Mutation_p.Q687K|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	687					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)		p.Q687K(1)		NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						ACCTCAAACCCAAGGAGAGAG	0.463																																						ENST00000543872.2																			1	Substitution - Missense(1)	p.Q687K(1)	lung(1)	NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						c.(2059-2061)Caa>Aaa		SMG8 nonsense mediated mRNA decay factor							130.0	138.0	135.0					17																	57290243		2203	4300	6503	SO:0001583	missense	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57290243C>A	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.2059C>A	17.37:g.57290243C>A	ENSP00000438748:p.Gln687Lys		Somatic				SMG8_ENST00000300917.5_Missense_Mutation_p.Q687K|SMG8_ENST00000580498.1_3'UTR|CTD-2510F5.6_ENST00000577660.1_Intron	p.Q687K			WXS	Illumina GAIIx	Phase_I	Q8ND04	SMG8_HUMAN			4	2323	+			687					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	c.2059C>A	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557197	0.45590	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.44083	0.93;0.93	5.82	5.82	0.92795	.	0.155915	0.64402	D	0.000020	T	0.39911	0.1096	L	0.48642	1.525	0.54753	D	0.999988	P	0.38280	0.625	B	0.38156	0.266	T	0.11084	-1.0602	10	0.14656	T	0.56	-16.14	19.0872	0.93209	0.0:1.0:0.0:0.0	.	687	Q8ND04	SMG8_HUMAN	K	687	ENSP00000300917:Q687K;ENSP00000438748:Q687K	ENSP00000300917:Q687K	Q	+	1	0	SMG8	54645025	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.752000	0.94435	0.655000	0.94253	CAA		0.463	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		6	192	6	192	---	---	---	---
KCNH6	81033	broad.mit.edu	37	17	61611529	61611529	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:61611529C>A	ENST00000583023.1	+	5	969	c.958C>A	c.(958-960)Cgc>Agc	p.R320S	KCNH6_ENST00000581784.1_Missense_Mutation_p.R320S|KCNH6_ENST00000314672.5_Missense_Mutation_p.R320S|KCNH6_ENST00000456941.2_Missense_Mutation_p.R320S|KCNH6_ENST00000580652.1_Missense_Mutation_p.R320S	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	320					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.R320C(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CATCAACTTCCGCACCACCTA	0.582																																						ENST00000583023.1																			1	Substitution - Missense(1)	p.R320C(1)	skin(1)	breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(958-960)Cgc>Agc		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)						230.0	184.0	199.0					17																	61611529		2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61611529C>A	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.958C>A	17.37:g.61611529C>A	ENSP00000463533:p.Arg320Ser		Somatic				KCNH6_ENST00000314672.5_Missense_Mutation_p.R320S|KCNH6_ENST00000581784.1_Missense_Mutation_p.R320S|KCNH6_ENST00000580652.1_Missense_Mutation_p.R320S|KCNH6_ENST00000456941.2_Missense_Mutation_p.R320S	p.R320S	NM_030779.2	NP_110406.1	WXS	Illumina GAIIx	Phase_I	Q9H252	KCNH6_HUMAN			5	969	+			320					Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.958C>A	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	C	9.721	1.159566	0.21454	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.98164	-4.76;-4.76	4.14	3.13	0.36017	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99083	0.9685	M	0.94063	3.49	0.48975	D	0.99973	D;P;D;P;D	0.63046	0.972;0.777;0.987;0.861;0.992	D;P;D;P;D	0.76071	0.974;0.793;0.987;0.878;0.938	D	0.99509	1.0955	10	0.87932	D	0	.	12.8983	0.58111	0.164:0.836:0.0:0.0	.	197;320;320;320;320	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	S	320	ENSP00000318212:R320S;ENSP00000396900:R320S	ENSP00000318212:R320S	R	+	1	0	KCNH6	58965261	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	1.856000	0.39389	0.882000	0.36016	0.305000	0.20034	CGC		0.582	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		5	191	5	191	---	---	---	---
POLG2	11232	broad.mit.edu	37	17	62492985	62492985	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:62492985C>A	ENST00000539111.2	-	1	169	c.102G>T	c.(100-102)acG>acT	p.T34T		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	34					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			TACTCCTTTCCGTCAACAGCT	0.647																																					Colon(3;18 21 435 17652 48887)	ENST00000539111.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15						c.(100-102)acG>acT		polymerase (DNA directed), gamma 2, accessory subunit							70.0	72.0	71.0					17																	62492985		2203	4300	6503	SO:0001819	synonymous_variant	11232				DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding	g.chr17:62492985C>A	U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"""DNA polymerases"""	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.102G>T	17.37:g.62492985C>A			Somatic					p.T34T	NM_007215.3	NP_009146.2	WXS	Illumina GAIIx	Phase_I	Q9UHN1	DPOG2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;4.97e-11)		1	169	-	Breast(5;2.15e-14)		34					O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Silent	SNP	ENST00000539111.2	37	c.102G>T	CCDS32706.1																																																																																				0.647	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443820.1	NM_007215		5	107	5	107	---	---	---	---
CACNG4	27092	broad.mit.edu	37	17	65021031	65021031	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:65021031G>T	ENST00000262138.3	+	3	362	c.360G>T	c.(358-360)ctG>ctT	p.L120L		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	120					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			TGCTCCTGCTGGGTGGCCTGT	0.652																																						ENST00000262138.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19						c.(358-360)ctG>ctT		calcium channel, voltage-dependent, gamma subunit 4							108.0	94.0	98.0					17																	65021031		2203	4300	6503	SO:0001819	synonymous_variant	27092				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	g.chr17:65021031G>T	AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"""Calcium channel subunits"""	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.360G>T	17.37:g.65021031G>T			Somatic					p.L120L	NM_014405.3	NP_055220.1	WXS	Illumina GAIIx	Phase_I	Q9UBN1	CCG4_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.35e-07)		3	362	+	all_cancers(12;9.86e-11)		120					B2RCK0	Silent	SNP	ENST00000262138.3	37	c.360G>T	CCDS11667.1																																																																																				0.652	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405		7	155	7	155	---	---	---	---
HELZ	9931	broad.mit.edu	37	17	65134173	65134173	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:65134173C>A	ENST00000358691.5	-	22	2993	c.2827G>T	c.(2827-2829)Ggg>Tgg	p.G943W	HELZ_ENST00000580168.1_Missense_Mutation_p.G944W	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	943						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCTAACTTCCCCCACGCTACT	0.388																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2827-2829)Ggg>Tgg		helicase with zinc finger							157.0	160.0	159.0					17																	65134173		2145	4239	6384	SO:0001583	missense	9931							g.chr17:65134173C>A	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.2827G>T	17.37:g.65134173C>A	ENSP00000351524:p.Gly943Trp		Somatic				HELZ_ENST00000580168.1_Missense_Mutation_p.G944W	p.G943W	NM_014877.3	NP_055692	WXS	Illumina GAIIx	Phase_I					22	2993	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.2827G>T	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.683195	0.47991	.	.	ENSG00000198265	ENST00000358691	D	0.83992	-1.79	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.93667	0.7977	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95056	0.8191	10	0.72032	D	0.01	-12.6201	18.8583	0.92262	0.0:1.0:0.0:0.0	.	944;943	B7ZLW2;P42694	.;HELZ_HUMAN	W	943	ENSP00000351524:G943W	ENSP00000351524:G943W	G	-	1	0	HELZ	62564635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.437000	0.82529	0.655000	0.94253	GGG		0.388	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		6	111	6	111	---	---	---	---
GRB2	2885	broad.mit.edu	37	17	73316460	73316460	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:73316460G>T	ENST00000392562.1	-	6	1425	c.643C>A	c.(643-645)Cgg>Agg	p.R215R	GRB2_ENST00000316615.5_Silent_p.R174R|GRB2_ENST00000578961.1_3'UTR|GRB2_ENST00000316804.5_Silent_p.R215R|GRB2_ENST00000392564.1_Silent_p.R215R|GRB2_ENST00000392563.1_Silent_p.R174R|GRB2_ENST00000462266.1_5'UTR			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	215	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				aging (GO:0007568)|anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to ionizing radiation (GO:0071479)|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)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of MAPK cascade (GO:0043408)|signal transduction in response to DNA damage (GO:0042770)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Grb2-EGFR complex (GO:0070436)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|identical protein binding (GO:0042802)|insulin receptor substrate binding (GO:0043560)|neurotrophin TRKA receptor binding (GO:0005168)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	TAGACGTTCCGGTTCACGGGG	0.453																																						ENST00000392562.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17						c.(643-645)Cgg>Agg		growth factor receptor-bound protein 2	Pegademase bovine(DB00061)						147.0	159.0	155.0					17																	73316460		2203	4300	6503	SO:0001819	synonymous_variant	2885				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity	g.chr17:73316460G>T		CCDS11721.1, CCDS11722.1	17q24-q25	2013-02-14			ENSG00000177885	ENSG00000177885		"""SH2 domain containing"""	4566	protein-coding gene	gene with protein product		108355					Standard	NM_002086		Approved	NCKAP2	uc002jnx.4	P62993	OTTHUMG00000134332	ENST00000392562.1:c.643C>A	17.37:g.73316460G>T			Somatic				GRB2_ENST00000578961.1_3'UTR|GRB2_ENST00000316804.5_Silent_p.R215R|GRB2_ENST00000392563.1_Silent_p.R174R|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000316615.5_Silent_p.R174R|GRB2_ENST00000392564.1_Silent_p.R215R	p.R215R			WXS	Illumina GAIIx	Phase_I	P62993	GRB2_HUMAN	all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		6	1425	-	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		215			SH3 2.		P29354|Q14450|Q63057|Q63059	Silent	SNP	ENST00000392562.1	37	c.643C>A	CCDS11721.1																																																																																				0.453	GRB2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259476.1			6	356	6	356	---	---	---	---
KIAA0195	9772	broad.mit.edu	37	17	73491708	73491708	+	Silent	SNP	C	C	A	rs377381836		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:73491708C>A	ENST00000314256.7	+	22	3322	c.2928C>A	c.(2926-2928)acC>acA	p.T976T	AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000579208.1_Silent_p.T627T|KIAA0195_ENST00000375248.5_Silent_p.T986T	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	976						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCTTTTCACCGACTGCACCC	0.637																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(2926-2928)acC>acA		KIAA0195							117.0	113.0	114.0					17																	73491708		2203	4300	6503	SO:0001819	synonymous_variant	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73491708C>A		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.2928C>A	17.37:g.73491708C>A			Somatic				KIAA0195_ENST00000579208.1_Silent_p.T627T|KIAA0195_ENST00000375248.5_Silent_p.T986T	p.T976T	NM_014738.4	NP_055553.3	WXS	Illumina GAIIx	Phase_I	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		22	3322	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		976					O75536|Q86XF1	Silent	SNP	ENST00000314256.7	37	c.2928C>A	CCDS32732.1																																																																																				0.637	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		7	228	7	228	---	---	---	---
UNK	85451	broad.mit.edu	37	17	73811288	73811288	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:73811288G>T	ENST00000589666.1	+	7	1025	c.915G>T	c.(913-915)tcG>tcT	p.S305S	UNK_ENST00000293218.3_Silent_p.S381S	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	305							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCAGCAGTCGGGCAGCTGTC	0.652																																						ENST00000293218.3																			0				cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1141-1143)tcG>tcT		unkempt family zinc finger							142.0	154.0	150.0					17																	73811288		2093	4212	6305	SO:0001819	synonymous_variant	85451						nucleic acid binding|zinc ion binding	g.chr17:73811288G>T	AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.915G>T	17.37:g.73811288G>T			Somatic				UNK_ENST00000589666.1_Silent_p.S305S	p.S381S			WXS	Illumina GAIIx	Phase_I	Q9C0B0	UNK_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)		8	1143	+			305						Silent	SNP	ENST00000589666.1	37	c.1143G>T	CCDS45778.2																																																																																				0.652	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419		6	179	6	179	---	---	---	---
UBE2O	63893	broad.mit.edu	37	17	74392583	74392583	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:74392583C>A	ENST00000319380.7	-	14	2499	c.2435G>T	c.(2434-2436)cGg>cTg	p.R812L	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	812					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TTTCAACTCCCGGAAGCTCTT	0.647																																						ENST00000319380.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(2434-2436)cGg>cTg		ubiquitin-conjugating enzyme E2O							120.0	128.0	126.0					17																	74392583		2203	4300	6503	SO:0001583	missense	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74392583C>A	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2435G>T	17.37:g.74392583C>A	ENSP00000323687:p.Arg812Leu		Somatic					p.R812L	NM_022066.3	NP_071349.3	WXS	Illumina GAIIx	Phase_I	Q9C0C9	UBE2O_HUMAN			14	2499	-			812					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	c.2435G>T	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156615	0.78114	.	.	ENSG00000175931	ENST00000319380	T	0.78246	-1.16	4.79	4.79	0.61399	.	0.063963	0.64402	D	0.000017	T	0.64549	0.2608	N	0.24115	0.695	0.40836	D	0.983637	P	0.48998	0.918	B	0.41299	0.353	T	0.68827	-0.5306	10	0.46703	T	0.11	.	11.3641	0.49662	0.0:0.9161:0.0:0.0839	.	812	Q9C0C9	UBE2O_HUMAN	L	812	ENSP00000323687:R812L	ENSP00000323687:R812L	R	-	2	0	UBE2O	71904178	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.751000	0.62169	2.206000	0.71126	0.462000	0.41574	CGG		0.647	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		9	312	9	312	---	---	---	---
UBE2O	63893	broad.mit.edu	37	17	74392836	74392836	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:74392836C>A	ENST00000319380.7	-	14	2246	c.2182G>T	c.(2182-2184)Ggg>Tgg	p.G728W	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	728					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GAGGATGCCCCGCTGGTGCTG	0.567																																						ENST00000319380.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(2182-2184)Ggg>Tgg		ubiquitin-conjugating enzyme E2O							126.0	111.0	116.0					17																	74392836		2203	4300	6503	SO:0001583	missense	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74392836C>A	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2182G>T	17.37:g.74392836C>A	ENSP00000323687:p.Gly728Trp		Somatic					p.G728W	NM_022066.3	NP_071349.3	WXS	Illumina GAIIx	Phase_I	Q9C0C9	UBE2O_HUMAN			14	2246	-			728					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	c.2182G>T	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496923	0.85069	.	.	ENSG00000175931	ENST00000319380	T	0.74106	-0.81	4.94	4.94	0.65067	.	0.066989	0.64402	D	0.000012	D	0.83211	0.5205	L	0.50333	1.59	0.52501	D	0.999955	D	0.89917	1.0	D	0.74674	0.984	D	0.85125	0.0971	10	0.72032	D	0.01	-32.996	18.1709	0.89745	0.0:1.0:0.0:0.0	.	728	Q9C0C9	UBE2O_HUMAN	W	728	ENSP00000323687:G728W	ENSP00000323687:G728W	G	-	1	0	UBE2O	71904431	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	7.456000	0.80751	2.283000	0.76528	0.462000	0.41574	GGG		0.567	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		5	152	5	152	---	---	---	---
TBC1D16	125058	broad.mit.edu	37	17	77923570	77923570	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:77923570C>A	ENST00000310924.2	-	7	1467	c.1352G>T	c.(1351-1353)cGg>cTg	p.R451L	TBC1D16_ENST00000570373.1_Missense_Mutation_p.R90L|TBC1D16_ENST00000340848.7_Missense_Mutation_p.R89L|TBC1D16_ENST00000576768.1_Missense_Mutation_p.R76L|TBC1D16_ENST00000572862.1_Missense_Mutation_p.R89L	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	451	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CAGCGCCTCCCGCTCCTCCGA	0.642																																					Ovarian(14;397 562 4850 31922 49378)	ENST00000310924.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28						c.(1351-1353)cGg>cTg		TBC1 domain family, member 16							56.0	68.0	64.0					17																	77923570		2203	4299	6502	SO:0001583	missense	125058					intracellular	Rab GTPase activator activity	g.chr17:77923570C>A	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.1352G>T	17.37:g.77923570C>A	ENSP00000309794:p.Arg451Leu		Somatic				TBC1D16_ENST00000572862.1_Missense_Mutation_p.R89L|TBC1D16_ENST00000576768.1_Missense_Mutation_p.R76L|TBC1D16_ENST00000340848.7_Missense_Mutation_p.R89L|TBC1D16_ENST00000570373.1_Missense_Mutation_p.R90L	p.R451L	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	WXS	Illumina GAIIx	Phase_I	Q8TBP0	TBC16_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		7	1467	-	all_neural(118;0.167)		451			Rab-GAP TBC.		B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Missense_Mutation	SNP	ENST00000310924.2	37	c.1352G>T	CCDS11766.1	.	.	.	.	.	.	.	.	.	.	C	32	5.193119	0.94960	.	.	ENSG00000167291	ENST00000340848;ENST00000310924	T;T	0.04502	3.61;3.61	4.8	4.8	0.61643	Rab-GAP/TBC domain (4);	0.119371	0.52532	D	0.000068	T	0.28134	0.0694	M	0.88979	2.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.994;0.994;0.992	T	0.21793	-1.0235	10	0.87932	D	0	-36.5486	17.8549	0.88760	0.0:1.0:0.0:0.0	.	111;451;451;89	Q96DH7;Q8TBP0;B9A6L7;Q8N3Z4	.;TBC16_HUMAN;.;.	L	89;451	ENSP00000341517:R89L;ENSP00000309794:R451L	ENSP00000309794:R451L	R	-	2	0	TBC1D16	75538165	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.929000	0.70096	2.196000	0.70406	0.591000	0.81541	CGG		0.642	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		5	178	5	178	---	---	---	---
YES1	7525	broad.mit.edu	37	18	748004	748004	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr18:748004C>A	ENST00000584307.1	-	4	556	c.386G>T	c.(385-387)tGg>tTg	p.W129L	YES1_ENST00000577961.1_Missense_Mutation_p.W134L|YES1_ENST00000314574.4_Missense_Mutation_p.W129L			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	129	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	TCTTGCTTCCCACCAATCTCC	0.433																																						ENST00000584307.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(385-387)tGg>tTg		v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	Dasatinib(DB01254)						178.0	158.0	165.0					18																	748004		2203	4300	6503	SO:0001583	missense	7525				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity	g.chr18:748004C>A	M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"""SH2 domain containing"""	12841	protein-coding gene	gene with protein product		164880	"""v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"""			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.386G>T	18.37:g.748004C>A	ENSP00000462468:p.Trp129Leu		Somatic				YES1_ENST00000577961.1_Missense_Mutation_p.W134L|YES1_ENST00000314574.4_Missense_Mutation_p.W129L	p.W129L			WXS	Illumina GAIIx	Phase_I	P07947	YES_HUMAN			4	556	-			129			SH3.		A6NLB3|D3DUH1	Missense_Mutation	SNP	ENST00000584307.1	37	c.386G>T	CCDS11824.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494954	0.85069	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	T	0.59502	0.26	5.64	5.64	0.86602	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	T	0.70718	0.3256	M	0.83774	2.66	0.80722	D	1	P	0.49961	0.93	P	0.47891	0.56	T	0.76096	-0.3084	10	0.87932	D	0	.	20.0556	0.97650	0.0:1.0:0.0:0.0	.	129	P07947	YES_HUMAN	L	129	ENSP00000324740:W129L	ENSP00000324740:W129L	W	-	2	0	YES1	738004	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.675000	0.84002	2.821000	0.97095	0.484000	0.47621	TGG		0.433	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440827.2	NM_005433		7	198	7	198	---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3129369	3129369	+	Silent	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr18:3129369G>T	ENST00000356443.4	-	18	2988	c.2655C>A	c.(2653-2655)ccC>ccA	p.P885P	MYOM1_ENST00000400569.3_Silent_p.P885P|MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000261606.7_Intron	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	885					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAGAGCTACTGGGTAGTGAAG	0.542											OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000400569.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(2653-2655)ccC>ccA		myomesin 1							188.0	189.0	188.0					18																	3129369		1906	4118	6024	SO:0001819	synonymous_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3129369G>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2655C>A	18.37:g.3129369G>T			Somatic	OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	608	MYOM1_ENST00000261606.7_Intron|MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000356443.4_Silent_p.P885P	p.P885P			WXS	Illumina GAIIx	Phase_I	P52179	MYOM1_HUMAN			18	2988	-			885					Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	c.2655C>A	CCDS45824.1																																																																																				0.542	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		8	252	8	252	---	---	---	---
MYO5B	4645	broad.mit.edu	37	18	47516881	47516881	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr18:47516881C>A	ENST00000285039.7	-	7	1065	c.766G>T	c.(766-768)Gag>Tag	p.E256*		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	256	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TAATTCCTCTCATCATCTGCC	0.502																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(766-768)Gag>Tag		myosin VB							75.0	74.0	74.0					18																	47516881		1979	4157	6136	SO:0001587	stop_gained	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47516881C>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.766G>T	18.37:g.47516881C>A	ENSP00000285039:p.Glu256*		Somatic					p.E256*	NM_001080467.2	NP_001073936.1	WXS	Illumina GAIIx	Phase_I	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	7	1065	-			256			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Nonsense_Mutation	SNP	ENST00000285039.7	37	c.766G>T	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	37	6.419017	0.97550	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	.	.	.	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.5491	0.87871	0.0:1.0:0.0:0.0	.	.	.	.	X	256;255	.	ENSP00000285039:E256X	E	-	1	0	MYO5B	45770879	1.000000	0.71417	0.922000	0.36590	0.128000	0.20619	7.662000	0.83803	2.308000	0.77769	0.563000	0.77884	GAG		0.502	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			4	51	4	51	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56184193	56184193	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr18:56184193C>A	ENST00000361673.3	-	9	6100	c.5887G>T	c.(5887-5889)Ggg>Tgg	p.G1963W		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1963	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTTCTGGTCCCATAGGCAATG	0.537																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(5887-5889)Ggg>Tgg		alpha-kinase 2							192.0	170.0	178.0					18																	56184193		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56184193C>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5887G>T	18.37:g.56184193C>A	ENSP00000354991:p.Gly1963Trp		Somatic					p.G1963W	NM_052947.3	NP_443179.3	WXS	Illumina GAIIx	Phase_I	Q86TB3	ALPK2_HUMAN			9	6100	-			1963			Alpha-type protein kinase.		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.5887G>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800319	0.70567	.	.	ENSG00000198796	ENST00000361673	T	0.07908	3.15	5.75	5.75	0.90469	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	T	0.31451	0.0797	M	0.69823	2.125	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	T	0.00686	-1.1610	10	0.87932	D	0	-24.3434	19.5549	0.95342	0.0:1.0:0.0:0.0	.	1963	Q86TB3	ALPK2_HUMAN	W	1963	ENSP00000354991:G1963W	ENSP00000354991:G1963W	G	-	1	0	ALPK2	54335173	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	4.550000	0.60733	2.716000	0.92895	0.655000	0.94253	GGG		0.537	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		6	188	6	188	---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67836099	67836099	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr18:67836099C>A	ENST00000255674.6	-	12	1967	c.1681G>T	c.(1681-1683)Ggg>Tgg	p.G561W	RTTN_ENST00000454359.1_Missense_Mutation_p.G561W|RTTN_ENST00000437017.1_Missense_Mutation_p.G561W	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	561					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACCTCTTTCCCAATATCAGAC	0.294																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1681-1683)Ggg>Tgg		rotatin							79.0	80.0	79.0					18																	67836099		1791	4063	5854	SO:0001583	missense	25914						binding	g.chr18:67836099C>A	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.1681G>T	18.37:g.67836099C>A	ENSP00000255674:p.Gly561Trp		Somatic				RTTN_ENST00000454359.1_Missense_Mutation_p.G561W|RTTN_ENST00000437017.1_Missense_Mutation_p.G561W	p.G561W	NM_173630.3	NP_775901.3	WXS	Illumina GAIIx	Phase_I	Q86VV8	RTTN_HUMAN			12	1967	-		Esophageal squamous(42;0.129)	561					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.1681G>T	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813787	0.32053	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.66280	3.48;-0.2;-0.2	5.67	4.79	0.61399	Armadillo-type fold (1);	0.598700	0.18223	N	0.147815	T	0.63236	0.2494	L	0.44542	1.39	0.09310	N	1	D;P	0.60575	0.988;0.914	P;P	0.53035	0.614;0.716	T	0.56842	-0.7912	10	0.62326	D	0.03	.	9.368	0.38237	0.0:0.5697:0.3536:0.0768	.	561;561	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	W	561	ENSP00000255674:G561W;ENSP00000402352:G561W;ENSP00000399520:G561W	ENSP00000255674:G561W	G	-	1	0	RTTN	65987079	0.010000	0.17322	0.257000	0.24404	0.320000	0.28249	2.020000	0.41010	1.380000	0.46344	0.591000	0.81541	GGG		0.294	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		6	117	6	117	---	---	---	---
DOT1L	84444	broad.mit.edu	37	19	2210676	2210676	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:2210676C>A	ENST00000398665.3	+	14	1209	c.1173C>A	c.(1171-1173)ccC>ccA	p.P391P	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	391	Required for interaction with nucleosomes and DNA.				histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCGTCTCCCTCCAAAGCCC	0.612																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(1171-1173)ccC>ccA		DOT1-like histone H3K79 methyltransferase							86.0	98.0	94.0					19																	2210676		1957	4137	6094	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2210676C>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1173C>A	19.37:g.2210676C>A			Somatic					p.P391P	NM_032482.2	NP_115871.1	WXS	Illumina GAIIx	Phase_I	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1209	+		Hepatocellular(1079;0.137)	391			Required for interaction with nucleosomes and DNA.		O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.1173C>A	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	7.593	0.671227	0.14776	.	.	ENSG00000104885	ENST00000440640	T	0.52295	0.67	4.94	2.38	0.29361	.	0.000000	0.85682	D	0.000000	T	0.50990	0.1648	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52457	-0.8573	7	0.87932	D	0	-33.7556	5.4973	0.16809	0.144:0.627:0.1406:0.0884	.	.	.	.	H	178	ENSP00000388276:P178H	ENSP00000388276:P178H	P	+	2	0	DOT1L	2161676	0.996000	0.38824	1.000000	0.80357	0.511000	0.34104	0.135000	0.15952	1.058000	0.40530	0.561000	0.74099	CCT		0.612	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		8	156	8	156	---	---	---	---
PIAS4	51588	broad.mit.edu	37	19	4013131	4013131	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:4013131C>A	ENST00000262971.2	+	2	353	c.238C>A	c.(238-240)Ccc>Acc	p.P80T		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	80					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGCACCGGCCCCTGGACCC	0.637																																						ENST00000262971.2																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17						c.(238-240)Ccc>Acc		protein inhibitor of activated STAT, 4							43.0	49.0	47.0					19																	4013131		2203	4299	6502	SO:0001583	missense	51588				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chr19:4013131C>A	AF077952	CCDS12118.1	19p13.3	2011-10-11						"""Zinc fingers, MIZ-type"""	17002	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 6"""	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.238C>A	19.37:g.4013131C>A	ENSP00000262971:p.Pro80Thr		Somatic					p.P80T	NM_015897.2	NP_056981.2	WXS	Illumina GAIIx	Phase_I	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	2	353	+			80					O75926|Q96G19|Q9UN16	Missense_Mutation	SNP	ENST00000262971.2	37	c.238C>A	CCDS12118.1	.	.	.	.	.	.	.	.	.	.	C	8.679	0.904581	0.17760	.	.	ENSG00000105229	ENST00000262971	T	0.32753	1.44	5.14	4.07	0.47477	.	0.344081	0.24681	N	0.036466	T	0.15219	0.0367	N	0.08118	0	0.28342	N	0.921285	B	0.11235	0.004	B	0.12156	0.007	T	0.15178	-1.0446	10	0.25106	T	0.35	-27.907	9.7974	0.40744	0.0:0.7786:0.142:0.0794	.	80	Q8N2W9	PIAS4_HUMAN	T	80	ENSP00000262971:P80T	ENSP00000262971:P80T	P	+	1	0	PIAS4	3964131	0.828000	0.29307	0.992000	0.48379	0.511000	0.34104	0.261000	0.18442	1.094000	0.41399	0.561000	0.74099	CCC		0.637	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897		4	85	4	85	---	---	---	---
MPND	84954	broad.mit.edu	37	19	4355118	4355118	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:4355118C>A	ENST00000262966.8	+	8	1011	c.944C>A	c.(943-945)cCt>cAt	p.P315H	MPND_ENST00000359935.4_Intron|AC007292.3_ENST00000593524.1_RNA|AC007292.4_ENST00000594776.1_RNA|MPND_ENST00000599840.1_Missense_Mutation_p.P315H	NM_032868.4	NP_116257.2	Q8N594	MPND_HUMAN	MPN domain containing	315	MPN.						peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGCCTTCCCTTGTCGGAGC	0.677																																						ENST00000599840.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8						c.(943-945)cCt>cAt		MPN domain containing							31.0	40.0	37.0					19																	4355118		2068	4209	6277	SO:0001583	missense	84954						peptidase activity	g.chr19:4355118C>A		CCDS42470.1, CCDS54200.1, CCDS74261.1	19p13.3	2014-08-12			ENSG00000008382				25934	protein-coding gene	gene with protein product							Standard	XM_005259663		Approved	FLJ14981	uc002mae.3	Q8N594	OTTHUMG00000181914	ENST00000262966.8:c.944C>A	19.37:g.4355118C>A	ENSP00000262966:p.Pro315His		Somatic				MPND_ENST00000262966.8_Missense_Mutation_p.P315H|MPND_ENST00000359935.4_Intron	p.P315H			WXS	Illumina GAIIx	Phase_I	Q8N594	MPND_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	8	979	+			315			MPN.		Q96SJ0|Q9Y2P1|Q9Y2P2	Missense_Mutation	SNP	ENST00000262966.8	37	c.944C>A	CCDS42470.1	.	.	.	.	.	.	.	.	.	.	c	18.98	3.738167	0.69304	.	.	ENSG00000008382	ENST00000262966	T	0.66638	-0.22	4.56	4.56	0.56223	.	0.116288	0.64402	D	0.000015	D	0.86986	0.6065	H	0.96398	3.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.99	D	0.91236	0.5018	10	0.87932	D	0	-10.3038	15.2334	0.73411	0.0:1.0:0.0:0.0	.	315;315	A6NI36;Q8N594	.;MPND_HUMAN	H	315	ENSP00000262966:P315H	ENSP00000262966:P315H	P	+	2	0	MPND	4306118	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	6.665000	0.74442	2.272000	0.75746	0.549000	0.68633	CCT		0.677	MPND-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458292.1	NM_032868		5	44	5	44	---	---	---	---
INSR	3643	broad.mit.edu	37	19	7267518	7267518	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:7267518G>T	ENST00000302850.5	-	2	632	c.490C>A	c.(490-492)Ctg>Atg	p.L164M	INSR_ENST00000341500.5_Missense_Mutation_p.L164M	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	164	Leu-rich.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	ACGGAATCCAGGATACGGGAC	0.527																																						ENST00000341500.5																			0				breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(490-492)Ctg>Atg		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						150.0	124.0	133.0					19																	7267518		2203	4300	6503	SO:0001583	missense	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7267518G>T	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.490C>A	19.37:g.7267518G>T	ENSP00000303830:p.Leu164Met		Somatic				INSR_ENST00000302850.5_Missense_Mutation_p.L164M	p.L164M	NM_001079817.1	NP_001073285.1	WXS	Illumina GAIIx	Phase_I	P06213	INSR_HUMAN			2	529	-			164					Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.490C>A	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162066	0.57368	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.83755	-1.76;-1.76	5.1	2.97	0.34412	.	0.000000	0.35040	U	0.003482	D	0.83580	0.5285	L	0.43646	1.37	0.80722	D	1	B;B;B	0.29301	0.013;0.241;0.15	B;P;P	0.49528	0.419;0.614;0.529	T	0.79822	-0.1641	10	0.34782	T	0.22	.	9.589	0.39534	0.1547:0.0:0.8453:0.0	.	155;164;164	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	M	164	ENSP00000303830:L164M;ENSP00000342838:L164M	ENSP00000303830:L164M	L	-	1	2	INSR	7218518	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	1.773000	0.38563	2.363000	0.80096	0.563000	0.77884	CTG		0.527	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			5	74	5	74	---	---	---	---
CYP4F11	57834	broad.mit.edu	37	19	16040400	16040400	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:16040400C>A	ENST00000402119.4	-	2	636	c.210G>T	c.(208-210)acG>acT	p.T70T	CYP4F11_ENST00000326742.8_Silent_p.T70T|CYP4F11_ENST00000591841.1_5'Flank|CYP4F11_ENST00000248041.8_Silent_p.T70T	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGCCCTCTTCCGTGGGAGTGA	0.517																																						ENST00000402119.4																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(208-210)acG>acT		cytochrome P450, family 4, subfamily F, polypeptide 11							118.0	118.0	118.0					19																	16040400		2203	4300	6503	SO:0001819	synonymous_variant	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16040400C>A	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.210G>T	19.37:g.16040400C>A			Somatic				CYP4F11_ENST00000326742.8_Silent_p.T70T|CYP4F11_ENST00000248041.8_Silent_p.T70T	p.T70T	NM_021187.3	NP_067010.3	WXS	Illumina GAIIx	Phase_I	Q9HBI6	CP4FB_HUMAN			2	636	-									Silent	SNP	ENST00000402119.4	37	c.210G>T	CCDS12337.1																																																																																				0.517	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		8	128	8	128	---	---	---	---
UPF1	5976	broad.mit.edu	37	19	18974273	18974273	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:18974273C>A	ENST00000599848.1	+	19	2869	c.2660C>A	c.(2659-2661)cCg>cAg	p.P887Q	UPF1_ENST00000262803.5_Missense_Mutation_p.P876Q			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	887					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.P876Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GTGGGCAACCCGAAGGCACTA	0.597																																						ENST00000262803.5																			1	Substitution - Missense(1)	p.P876Q(1)	lung(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(2626-2628)cCg>cAg		UPF1 regulator of nonsense transcripts homolog (yeast)							176.0	175.0	176.0					19																	18974273		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18974273C>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2660C>A	19.37:g.18974273C>A	ENSP00000470142:p.Pro887Gln		Somatic				UPF1_ENST00000599848.1_Missense_Mutation_p.P887Q	p.P876Q	NM_002911.3	NP_002902.2	WXS	Illumina GAIIx	Phase_I	Q92900	RENT1_HUMAN			19	2899	+			887					O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.2627C>A		.	.	.	.	.	.	.	.	.	.	C	18.94	3.729782	0.69074	.	.	ENSG00000005007	ENST00000262803	D	0.92199	-2.99	4.46	4.46	0.54185	.	0.108822	0.64402	D	0.000005	D	0.95541	0.8551	M	0.80183	2.485	0.80722	D	1	D;D	0.67145	0.994;0.996	D;D	0.66847	0.915;0.947	D	0.96131	0.9092	10	0.87932	D	0	-22.6611	14.2655	0.66116	0.0:1.0:0.0:0.0	.	887;876	Q92900;Q92900-2	RENT1_HUMAN;.	Q	876	ENSP00000262803:P876Q	ENSP00000262803:P876Q	P	+	2	0	UPF1	18835273	1.000000	0.71417	0.952000	0.39060	0.365000	0.29674	7.452000	0.80683	2.023000	0.59567	0.555000	0.69702	CCG		0.597	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		6	309	6	309	---	---	---	---
UPF1	5976	broad.mit.edu	37	19	18976570	18976570	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:18976570C>A	ENST00000599848.1	+	22	3462	c.3253C>A	c.(3253-3255)Cag>Aag	p.Q1085K	UPF1_ENST00000262803.5_Missense_Mutation_p.Q1074K			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	1085	Gln/Ser-rich.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CGGCCTCTCCCAGCCGGAGCT	0.647																																						ENST00000262803.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(3220-3222)Cag>Aag		UPF1 regulator of nonsense transcripts homolog (yeast)							40.0	46.0	44.0					19																	18976570		2200	4293	6493	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18976570C>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.3253C>A	19.37:g.18976570C>A	ENSP00000470142:p.Gln1085Lys		Somatic				UPF1_ENST00000599848.1_Missense_Mutation_p.Q1085K	p.Q1074K	NM_002911.3	NP_002902.2	WXS	Illumina GAIIx	Phase_I	Q92900	RENT1_HUMAN			22	3492	+			1085			Gln/Ser-rich.		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.3220C>A		.	.	.	.	.	.	.	.	.	.	c	20.3	3.967264	0.74131	.	.	ENSG00000005007	ENST00000262803	D	0.89875	-2.58	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.85106	0.5621	L	0.34521	1.04	0.80722	D	1	B;B	0.21905	0.062;0.043	B;B	0.26770	0.036;0.073	T	0.82824	-0.0266	10	0.62326	D	0.03	-32.4063	16.7116	0.85387	0.0:1.0:0.0:0.0	.	1085;1074	Q92900;Q92900-2	RENT1_HUMAN;.	K	1074	ENSP00000262803:Q1074K	ENSP00000262803:Q1074K	Q	+	1	0	UPF1	18837570	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.470000	0.80973	2.285000	0.76669	0.479000	0.44913	CAG		0.647	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		5	93	5	93	---	---	---	---
ARHGAP33	115703	broad.mit.edu	37	19	36278578	36278578	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:36278578C>A	ENST00000007510.4	+	21	3255	c.3111C>A	c.(3109-3111)ccC>ccA	p.P1037P	ARHGAP33_ENST00000378944.5_Silent_p.P873P|AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000314737.5_Silent_p.P876P			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1037					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCCCAGCCCCCAGGGAGTGCC	0.697																																						ENST00000007510.4																			0				endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(3109-3111)ccC>ccA		Rho GTPase activating protein 33							24.0	30.0	28.0					19																	36278578		2188	4262	6450	SO:0001819	synonymous_variant	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36278578C>A	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.3111C>A	19.37:g.36278578C>A			Somatic				ARHGAP33_ENST00000378944.5_Silent_p.P873P|ARHGAP33_ENST00000314737.5_Silent_p.P876P	p.P1037P			WXS	Illumina GAIIx	Phase_I	O14559	RHG33_HUMAN			21	3255	+			1037					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Silent	SNP	ENST00000007510.4	37	c.3111C>A																																																																																					0.697	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		6	64	6	64	---	---	---	---
LRFN3	79414	broad.mit.edu	37	19	36430931	36430931	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:36430931C>A	ENST00000588831.1	+	3	1658	c.604C>A	c.(604-606)Cgc>Agc	p.R202S	LRFN3_ENST00000246529.3_Missense_Mutation_p.R202S			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	202					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGCTTTTTCCCGCCTGCACAA	0.697																																						ENST00000588831.1																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(604-606)Cgc>Agc		leucine rich repeat and fibronectin type III domain containing 3							72.0	89.0	83.0					19																	36430931		2195	4278	6473	SO:0001583	missense	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36430931C>A	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28370	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 1"""	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.604C>A	19.37:g.36430931C>A	ENSP00000466989:p.Arg202Ser		Somatic				LRFN3_ENST00000246529.3_Missense_Mutation_p.R202S	p.R202S			WXS	Illumina GAIIx	Phase_I	Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	1658	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		202					Q6UY10	Missense_Mutation	SNP	ENST00000588831.1	37	c.604C>A	CCDS12483.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.573211	0.28092	.	.	ENSG00000126243	ENST00000246529	T	0.55760	0.5	4.49	2.22	0.28083	.	0.000000	0.33670	N	0.004676	T	0.31136	0.0787	N	0.05554	-0.025	0.28546	N	0.911874	B	0.22414	0.069	B	0.34038	0.174	T	0.19451	-1.0305	10	0.46703	T	0.11	.	6.3516	0.21379	0.3269:0.5037:0.1694:0.0	.	202	Q9BTN0	LRFN3_HUMAN	S	202	ENSP00000246529:R202S	ENSP00000246529:R202S	R	+	1	0	LRFN3	41122771	0.000000	0.05858	1.000000	0.80357	0.992000	0.81027	-0.923000	0.04000	2.192000	0.70111	0.557000	0.71058	CGC		0.697	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		6	208	6	208	---	---	---	---
TBCB	1155	broad.mit.edu	37	19	36616652	36616652	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:36616652C>A	ENST00000221855.3	+	6	1278	c.703C>A	c.(703-705)Ccg>Acg	p.P235T	TBCB_ENST00000586868.1_3'UTR|TBCB_ENST00000589996.1_3'UTR|TBCB_ENST00000585746.1_Missense_Mutation_p.P184T	NM_001281.2	NP_001272.2	Q99426	TBCB_HUMAN	tubulin folding cofactor B	235					'de novo' posttranslational protein folding (GO:0051084)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGGGGACTTCCCGGAGGAGGA	0.572																																						ENST00000221855.3																			0				large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(703-705)Ccg>Acg		tubulin folding cofactor B							187.0	181.0	183.0					19																	36616652		2203	4300	6503	SO:0001583	missense	1155				'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding	g.chr19:36616652C>A	AF013488	CCDS12488.1, CCDS74344.1	19q13.11-q13.12	2008-02-05	2006-11-22	2006-11-22	ENSG00000105254	ENSG00000105254			1989	protein-coding gene	gene with protein product		601303	"""cytoskeleton-associated protein 1"", ""cytoskeleton associated protein 1"""	CKAP1		8978778	Standard	NM_001281		Approved	CG22, CKAPI	uc002odg.1	Q99426	OTTHUMG00000048143	ENST00000221855.3:c.703C>A	19.37:g.36616652C>A	ENSP00000221855:p.Pro235Thr		Somatic				TBCB_ENST00000586868.1_3'UTR|TBCB_ENST00000589996.1_3'UTR|TBCB_ENST00000585746.1_Missense_Mutation_p.P184T	p.P235T	NM_001281.2	NP_001272.2	WXS	Illumina GAIIx	Phase_I	Q99426	TBCB_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		6	1278	+	Esophageal squamous(110;0.162)		235					O00111|O00674|O14728|Q6FGY5	Missense_Mutation	SNP	ENST00000221855.3	37	c.703C>A	CCDS12488.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650005	0.87958	.	.	ENSG00000105254	ENST00000221855	D	0.95205	-3.64	4.82	4.82	0.62117	Cytoskeleton-associated protein, Gly-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.97504	0.9183	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98206	1.0470	10	0.87932	D	0	-18.6144	15.4413	0.75184	0.0:1.0:0.0:0.0	.	184;235	Q6FGY5;Q99426	.;TBCB_HUMAN	T	235	ENSP00000221855:P235T	ENSP00000221855:P235T	P	+	1	0	TBCB	41308492	1.000000	0.71417	0.995000	0.50966	0.899000	0.52679	6.960000	0.76036	2.494000	0.84150	0.561000	0.74099	CCG		0.572	TBCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156291.2	NM_001281		7	227	7	227	---	---	---	---
PLEKHG2	64857	broad.mit.edu	37	19	39907506	39907506	+	Silent	SNP	C	C	A	rs201201843		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:39907506C>A	ENST00000409794.3	+	7	1460	c.610C>A	c.(610-612)Cgg>Agg	p.R204R	PLEKHG2_ENST00000378550.1_Silent_p.R204R|PLEKHG2_ENST00000409797.2_Silent_p.R204R|PLEKHG2_ENST00000458508.2_Silent_p.R145R|PLEKHG2_ENST00000425673.1_Silent_p.R204R	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	204	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|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)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCCCTGCTCCGGGAGCTGTC	0.667																																						ENST00000425673.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(610-612)Cgg>Agg		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							53.0	64.0	60.0					19																	39907506		2182	4250	6432	SO:0001819	synonymous_variant	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39907506C>A	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.610C>A	19.37:g.39907506C>A			Somatic				PLEKHG2_ENST00000409797.2_Silent_p.R204R|PLEKHG2_ENST00000458508.2_Silent_p.R145R|PLEKHG2_ENST00000378550.1_Silent_p.R204R|PLEKHG2_ENST00000409794.3_Silent_p.R204R	p.R204R			WXS	Illumina GAIIx	Phase_I	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		7	935	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		204			DH.		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Silent	SNP	ENST00000409794.3	37	c.610C>A	CCDS33022.2																																																																																				0.667	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		5	172	5	172	---	---	---	---
FBL	2091	broad.mit.edu	37	19	40331076	40331076	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:40331076C>A	ENST00000221801.3	-	3	374	c.261G>T	c.(259-261)atG>atT	p.M87I	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	87					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		GCGGCTCCACCATCACATTCT	0.612																																						ENST00000221801.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(259-261)atG>atT		fibrillarin							292.0	252.0	266.0					19																	40331076		2203	4300	6503	SO:0001583	missense	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40331076C>A	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.261G>T	19.37:g.40331076C>A	ENSP00000221801:p.Met87Ile		Somatic					p.M87I	NM_001436.3	NP_001427.2	WXS	Illumina GAIIx	Phase_I	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	3	374	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	87					B5BUE8|O75259|Q6IAT5|Q9UPI6	Missense_Mutation	SNP	ENST00000221801.3	37	c.261G>T	CCDS12545.1	.	.	.	.	.	.	.	.	.	.	C	7.383	0.629133	0.14257	.	.	ENSG00000105202	ENST00000221801	.	.	.	4.99	3.92	0.45320	.	0.489457	0.23710	N	0.045331	T	0.23289	0.0563	N	0.19112	0.55	0.34077	D	0.659136	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.27640	-1.0068	9	0.02654	T	1	-18.1057	5.0161	0.14337	0.2606:0.6299:0.0:0.1095	.	87;26;87	B4DLD4;Q96BS4;P22087	.;.;FBRL_HUMAN	I	87	.	ENSP00000221801:M87I	M	-	3	0	FBL	45022916	0.973000	0.33851	1.000000	0.80357	0.995000	0.86356	-0.055000	0.11807	2.298000	0.77334	0.511000	0.50034	ATG		0.612	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		7	264	7	264	---	---	---	---
ITPKC	80271	broad.mit.edu	37	19	41231253	41231253	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:41231253C>A	ENST00000263370.2	+	2	1197	c.1164C>A	c.(1162-1164)ccC>ccA	p.P388P		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	388					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGAGCAAACCCTGGAAGAAGC	0.567																																						ENST00000263370.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14						c.(1162-1164)ccC>ccA		inositol-trisphosphate 3-kinase C							150.0	149.0	149.0					19																	41231253		2203	4300	6503	SO:0001819	synonymous_variant	80271					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr19:41231253C>A	Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.1164C>A	19.37:g.41231253C>A			Somatic					p.P388P	NM_025194.2	NP_079470.1	WXS	Illumina GAIIx	Phase_I	Q96DU7	IP3KC_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		2	1197	+			388					Q9UE25|Q9Y475	Silent	SNP	ENST00000263370.2	37	c.1164C>A	CCDS12563.1																																																																																				0.567	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194		7	187	7	187	---	---	---	---
IRGQ	126298	broad.mit.edu	37	19	44097036	44097036	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:44097036C>A	ENST00000602269.1	-	2	1199	c.1014G>T	c.(1012-1014)ccG>ccT	p.P338P	L34079.2_ENST00000594374.1_Silent_p.P51P|IRGQ_ENST00000422989.1_Silent_p.P338P|IRGQ_ENST00000601520.1_5'UTR			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	338	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CCAGACACTCCGGATCCTCGC	0.612																																						ENST00000422989.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18						c.(1012-1014)ccG>ccT		immunity-related GTPase family, Q							183.0	177.0	179.0					19																	44097036		2203	4300	6503	SO:0001819	synonymous_variant	126298						protein binding	g.chr19:44097036C>A	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.1014G>T	19.37:g.44097036C>A			Somatic				IRGQ_ENST00000602269.1_Silent_p.P338P|IRGQ_ENST00000601520.1_5'UTR|L34079.2_ENST00000594374.1_Silent_p.P51P	p.P338P	NM_001007561.2	NP_001007562.1	WXS	Illumina GAIIx	Phase_I	Q8WZA9	IRGQ_HUMAN			3	1169	-		Prostate(69;0.0199)	338					B2RNP3	Silent	SNP	ENST00000602269.1	37	c.1014G>T	CCDS33040.1																																																																																				0.612	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		6	204	6	204	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46318255	46318255	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:46318255C>A	ENST00000221538.3	-	1	322	c.180G>T	c.(178-180)agG>agT	p.R60S	RSPH6A_ENST00000597055.1_Missense_Mutation_p.R60S|SYMPK_ENST00000598155.1_5'Flank	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	60						intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						ACAGGCTGCCCCTCTGTGACC	0.647																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(178-180)agG>agT		radial spoke head 6 homolog A (Chlamydomonas)							52.0	49.0	50.0					19																	46318255		2203	4300	6503	SO:0001583	missense	81492					intracellular		g.chr19:46318255C>A	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.180G>T	19.37:g.46318255C>A	ENSP00000221538:p.Arg60Ser		Somatic				RSPH6A_ENST00000597055.1_Missense_Mutation_p.R60S	p.R60S	NM_030785.3	NP_110412.1	WXS	Illumina GAIIx	Phase_I	Q9H0K4	RSH6A_HUMAN			1	322	-			60					Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	37	c.180G>T	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.704808	0.30232	.	.	ENSG00000104941	ENST00000221538	T	0.13657	2.57	3.99	0.311	0.15831	.	4.111420	0.00760	N	0.001124	T	0.09730	0.0239	L	0.29908	0.895	0.09310	N	1	B	0.22003	0.063	B	0.12156	0.007	T	0.25433	-1.0132	10	0.08179	T	0.78	-0.365	5.8749	0.18824	0.0:0.5065:0.3775:0.116	.	60	Q9H0K4	RSH6A_HUMAN	S	60	ENSP00000221538:R60S	ENSP00000221538:R60S	R	-	3	2	RSPH6A	51010095	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.001000	0.12947	0.035000	0.15519	0.549000	0.68633	AGG		0.647	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			6	70	6	70	---	---	---	---
MBOAT7	79143	broad.mit.edu	37	19	54692102	54692102	+	Missense_Mutation	SNP	C	C	A	rs534373157		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:54692102C>A	ENST00000245615.1	-	3	655	c.175G>T	c.(175-177)Ggg>Tgg	p.G59W	TSEN34_ENST00000396383.1_5'Flank|TSEN34_ENST00000302937.4_5'Flank|MBOAT7_ENST00000391754.1_Missense_Mutation_p.G59W|TSEN34_ENST00000429671.2_5'Flank|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000431666.2_Missense_Mutation_p.R28L|MBOAT7_ENST00000338624.6_Missense_Mutation_p.R28L	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	59					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCCAGGTCCCGAGGATGGTG	0.622																																					NSCLC(97;826 2151 10470 22540)	ENST00000245615.1																			0				endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10						c.(175-177)Ggg>Tgg		membrane bound O-acyltransferase domain containing 7							56.0	64.0	61.0					19																	54692102		2203	4300	6503	SO:0001583	missense	79143				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr19:54692102C>A	AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.175G>T	19.37:g.54692102C>A	ENSP00000245615:p.Gly59Trp		Somatic				MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000431666.2_Missense_Mutation_p.R28L|MBOAT7_ENST00000391754.1_Missense_Mutation_p.G59W|MBOAT7_ENST00000338624.6_Missense_Mutation_p.R28L	p.G59W	NM_024298.3	NP_077274.3	WXS	Illumina GAIIx	Phase_I	Q96N66	MBOA7_HUMAN			3	655	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		59					A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Missense_Mutation	SNP	ENST00000245615.1	37	c.175G>T	CCDS12883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.065903|4.065903	0.76187|0.76187	.|.	.|.	ENSG00000125505|ENSG00000125505	ENST00000245615;ENST00000449249;ENST00000391754;ENST00000414665;ENST00000453320|ENST00000431666;ENST00000338624	T;T;T|T;T	0.47869|0.18502	2.14;1.4;0.83|2.21;2.21	4.06|4.06	4.06|4.06	0.47325|0.47325	.|.	0.229124|.	0.34386|.	N|.	0.004008|.	T|T	0.13157|0.13157	0.0319|0.0319	.|.	.|.	.|.	0.37372|0.37372	D|D	0.91166|0.91166	D;D|B	0.89917|0.14438	1.0;1.0|0.01	D;D|B	0.91635|0.17098	0.989;0.999|0.017	T|T	0.11991|0.11991	-1.0565|-1.0565	9|8	0.66056|0.19147	D|T	0.02|0.46	-17.8323|-17.8323	15.4077|15.4077	0.74893|0.74893	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	41;59|28	B4DDH8;Q96N66|Q96N66-2	.;MBOA7_HUMAN|.	W|L	59;11;59;59;59|28	ENSP00000245615:G59W;ENSP00000375634:G59W;ENSP00000388250:G59W|ENSP00000410503:R28L;ENSP00000344377:R28L	ENSP00000245615:G59W|ENSP00000344377:R28L	G|R	-|-	1|2	0|0	MBOAT7|MBOAT7	59383914|59383914	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.817000|0.817000	0.46193|0.46193	6.714000|6.714000	0.74692|0.74692	2.008000|2.008000	0.58898|0.58898	0.561000|0.561000	0.74099|0.74099	GGG|CGG		0.622	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1	NM_024298		4	86	4	86	---	---	---	---
SEC23B	10483	broad.mit.edu	37	20	18522950	18522950	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr20:18522950C>A	ENST00000336714.3	+	13	1847	c.1415C>A	c.(1414-1416)cCg>cAg	p.P472Q	SEC23B_ENST00000377465.1_Missense_Mutation_p.P472Q|SEC23B_ENST00000377475.3_Missense_Mutation_p.P472Q|SEC23B_ENST00000262544.2_Missense_Mutation_p.P472Q	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	472					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CACAACACCCCGATCCCCCAA	0.532																																						ENST00000336714.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						c.(1414-1416)cCg>cAg		Sec23 homolog B (S. cerevisiae)							242.0	212.0	222.0					20																	18522950		2203	4300	6503	SO:0001583	missense	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18522950C>A	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.1415C>A	20.37:g.18522950C>A	ENSP00000338844:p.Pro472Gln		Somatic				SEC23B_ENST00000377465.1_Missense_Mutation_p.P472Q|SEC23B_ENST00000262544.2_Missense_Mutation_p.P472Q|SEC23B_ENST00000377475.3_Missense_Mutation_p.P472Q	p.P472Q	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	WXS	Illumina GAIIx	Phase_I	Q15437	SC23B_HUMAN			13	1847	+			472					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	c.1415C>A	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709472	0.68730	.	.	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	4.93	4.93	0.64822	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	D	0.85115	0.5623	M	0.70842	2.15	0.80722	D	1	D;P	0.76494	0.999;0.673	D;P	0.75020	0.985;0.462	D	0.85752	0.1344	10	0.52906	T	0.07	-19.2325	17.3272	0.87252	0.0:1.0:0.0:0.0	.	454;472	B4DJW8;Q15437	.;SC23B_HUMAN	Q	472	ENSP00000338844:P472Q;ENSP00000262544:P472Q;ENSP00000366695:P472Q;ENSP00000366685:P472Q	ENSP00000262544:P472Q	P	+	2	0	SEC23B	18470950	1.000000	0.71417	0.873000	0.34254	0.550000	0.35303	7.651000	0.83577	2.567000	0.86603	0.655000	0.94253	CCG		0.532	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			5	233	5	233	---	---	---	---
PAX1	5075	broad.mit.edu	37	20	21687334	21687334	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr20:21687334G>T	ENST00000398485.2	+	2	599	c.545G>T	c.(544-546)cGg>cTg	p.R182L	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.R158L	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	182	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						AAGCACATCCGGGACTACAAG	0.637																																						ENST00000398485.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(544-546)cGg>cTg		paired box 1							59.0	61.0	61.0					20																	21687334		2203	4300	6503	SO:0001583	missense	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21687334G>T		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.545G>T	20.37:g.21687334G>T	ENSP00000381499:p.Arg182Leu		Somatic				PAX1_ENST00000444366.2_Missense_Mutation_p.R158L|PAX1_ENST00000460221.1_Intron	p.R182L	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	WXS	Illumina GAIIx	Phase_I	P15863	PAX1_HUMAN			2	599	+			182			Paired.		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	c.545G>T	CCDS13146.2	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832314	0.71258	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.99214	-5.57;-5.57	5.63	4.66	0.58398	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98826	0.9604	L	0.32530	0.975	0.80722	D	1	D;D;P	0.89917	1.0;0.999;0.478	D;D;B	0.72982	0.979;0.974;0.224	D	0.99898	1.1153	10	0.62326	D	0.03	.	15.482	0.75534	0.0:0.0:0.8601:0.1399	.	158;88;182	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	L	182;158	ENSP00000381499:R182L;ENSP00000410355:R158L	ENSP00000381499:R182L	R	+	2	0	PAX1	21635334	1.000000	0.71417	0.999000	0.59377	0.197000	0.23852	7.763000	0.85283	1.347000	0.45714	0.655000	0.94253	CGG		0.637	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			5	107	5	107	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29628246	29628246	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr20:29628246C>A	ENST00000278882.3	+	6	628	c.248C>A	c.(247-249)gCc>gAc	p.A83D	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88D|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83D			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GCTTTGTTGGCCTCAAATAGC	0.353																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)gCc>gAc																																						SO:0001583	missense	284802							g.chr20:29628246C>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.248C>A	20.37:g.29628246C>A	ENSP00000278882:p.Ala83Asp		Somatic				FRG1B_ENST00000358464.4_Missense_Mutation_p.A83D|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88D	p.A83D			WXS	Illumina GAIIx	Phase_I					6	628	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.248C>A		.	.	.	.	.	.	.	.	.	.	c	16.75	3.210388	0.58343	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50813	0.73	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.63129	0.2485	.	.	.	0.54753	D	0.999987	P;D	0.63880	0.839;0.993	P;D	0.70227	0.834;0.968	T	0.65611	-0.6126	9	0.52906	T	0.07	.	10.2211	0.43198	0.0:1.0:0.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	D	83;88;83	ENSP00000408863:A88D	ENSP00000278882:A83D	A	+	2	0	FRG1B	28241907	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	5.082000	0.64450	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	99	6	99	---	---	---	---
DPM1	8813	broad.mit.edu	37	20	49576642	49576642	+	5'Flank	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr20:49576642C>A	ENST00000371588.5	-	0	0				DPM1_ENST00000466152.1_5'Flank|DPM1_ENST00000371582.4_5'Flank|MOCS3_ENST00000244051.1_Silent_p.A421A|DPM1_ENST00000371583.5_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						CACAGAAAGCCGTGAAGATCC	0.498																																						ENST00000244051.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						c.(1261-1263)gcC>gcA		molybdenum cofactor synthesis 3							93.0	96.0	95.0					20																	49576642		2203	4300	6503	SO:0001631	upstream_gene_variant	27304				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	g.chr20:49576642C>A	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49576642C>A	Exception_encountered		Somatic					p.A421A	NM_014484.3	NP_055299.1	WXS	Illumina GAIIx	Phase_I	O95396	MOCS3_HUMAN			1	1280	+			421			Rhodanese.		O15157|Q6IB78|Q96HK0	Silent	SNP	ENST00000371588.5	37	c.1263C>A	CCDS13434.1																																																																																				0.498	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		5	141	5	141	---	---	---	---
NFATC2	4773	broad.mit.edu	37	20	50140226	50140226	+	Missense_Mutation	SNP	G	G	T	rs148866792		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr20:50140226G>T	ENST00000396009.3	-	2	773	c.554C>A	c.(553-555)cCc>cAc	p.P185H	NFATC2_ENST00000414705.1_Missense_Mutation_p.P165H|NFATC2_ENST00000371564.3_Missense_Mutation_p.P185H|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000609943.1_Missense_Mutation_p.P165H	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	185	3 X approximate SP repeats.|Trans-activation domain A (TAD-A).				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGAGGTGTAGGGGGAGAAGGT	0.632																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(553-555)cCc>cAc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							33.0	41.0	38.0					20																	50140226		2201	4300	6501	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50140226G>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.554C>A	20.37:g.50140226G>T	ENSP00000379330:p.Pro185His		Somatic				NFATC2_ENST00000414705.1_Missense_Mutation_p.P165H|NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000396009.3_Missense_Mutation_p.P185H|NFATC2_ENST00000609943.1_Missense_Mutation_p.P165H	p.P185H	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	WXS	Illumina GAIIx	Phase_I	Q13469	NFAC2_HUMAN			2	773	-	Hepatocellular(150;0.248)		185			3 X approximate SP repeats.|Trans-activation domain A (TAD-A).		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.554C>A	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451281	0.84209	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	D;D;D	0.92149	-2.98;-2.98;-2.98	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.95459	0.8525	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	D	0.95562	0.8630	10	0.87932	D	0	-21.5443	19.6231	0.95667	0.0:0.0:1.0:0.0	.	165;165;185;185	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	H	185;185;165	ENSP00000360619:P185H;ENSP00000379330:P185H;ENSP00000396471:P165H	ENSP00000360619:P185H	P	-	2	0	NFATC2	49573633	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.441000	0.97557	2.643000	0.89663	0.462000	0.41574	CCC		0.632	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		5	59	5	59	---	---	---	---
SLC17A9	63910	broad.mit.edu	37	20	61594048	61594048	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr20:61594048C>A	ENST00000370351.4	+	5	701	c.570C>A	c.(568-570)tcC>tcA	p.S190S	SLC17A9_ENST00000370349.3_Silent_p.S184S|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	190					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TCTATTTCTCCGGCGGCCTCA	0.637																																						ENST00000370349.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(550-552)tcC>tcA		solute carrier family 17 (vesicular nucleotide transporter), member 9							115.0	134.0	128.0					20																	61594048		1997	4150	6147	SO:0001819	synonymous_variant	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61594048C>A	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.570C>A	20.37:g.61594048C>A			Somatic				SLC17A9_ENST00000370351.4_Silent_p.S190S|SLC17A9_ENST00000488738.1_3'UTR	p.S184S			WXS	Illumina GAIIx	Phase_I	Q9BYT1	S17A9_HUMAN			6	756	+			190					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Silent	SNP	ENST00000370351.4	37	c.552C>A	CCDS42901.1																																																																																				0.637	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		6	170	6	170	---	---	---	---
MYT1	4661	broad.mit.edu	37	20	62839624	62839624	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr20:62839624C>A	ENST00000328439.1	+	7	1439	c.1075C>A	c.(1075-1077)Cgg>Agg	p.R359R	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Silent_p.R359R	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R359W(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CACCCACTCCCGGAAGTCAAC	0.602																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			1	Substitution - Missense(1)	p.R359W(1)	liver(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1075-1077)Cgg>Agg		myelin transcription factor 1							102.0	96.0	98.0					20																	62839624		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839624C>A	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1075C>A	20.37:g.62839624C>A			Somatic				MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.R359R	p.R359R			WXS	Illumina GAIIx	Phase_I	Q01538	MYT1_HUMAN			7	1439	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		359					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.1075C>A	CCDS13558.1																																																																																				0.602	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		5	89	5	89	---	---	---	---
LTN1	26046	broad.mit.edu	37	21	30318243	30318243	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr21:30318243C>A	ENST00000361371.5	-	21	3733	c.3654G>T	c.(3652-3654)ctG>ctT	p.L1218L	LTN1_ENST00000389194.2_Silent_p.L1264L			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1218					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TATTTACACCCAGTACCTCTG	0.353																																						ENST00000389194.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(3790-3792)ctG>ctT		listerin E3 ubiquitin protein ligase 1							91.0	99.0	96.0					21																	30318243		2203	4300	6503	SO:0001819	synonymous_variant	26046						ligase activity|zinc ion binding	g.chr21:30318243C>A	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.3654G>T	21.37:g.30318243C>A			Somatic				LTN1_ENST00000361371.5_Silent_p.L1218L	p.L1264L	NM_015565.2	NP_056380.2	WXS	Illumina GAIIx	Phase_I	O94822	LTN1_HUMAN			21	3797	-			1218					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Silent	SNP	ENST00000361371.5	37	c.3792G>T																																																																																					0.353	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		5	74	5	74	---	---	---	---
TMPRSS2	7113	broad.mit.edu	37	21	42839793	42839793	+	Silent	SNP	C	C	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr21:42839793C>T	ENST00000332149.5	-	13	1469	c.1335G>A	c.(1333-1335)ctG>ctA	p.L445L	TMPRSS2_ENST00000458356.1_Silent_p.L445L|TMPRSS2_ENST00000398585.3_Silent_p.L482L	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	445	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TCGAAGTGACCAGAGGCCCTC	0.532			T	"""ERG, ETV1, ETV4, ETV5"""	prostate																																	ENST00000398585.3				Dom	yes		21	21q22.3	7113	T	"""transmembrane protease, serine 2"""			E	"""ERG, ETV1, ETV4, ETV5"""		prostate	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	0				central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(1444-1446)ctG>ctA		transmembrane protease, serine 2							136.0	124.0	128.0					21																	42839793		2203	4300	6503	SO:0001819	synonymous_variant	7113				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42839793C>T	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"""Serine peptidases / Transmembrane"""	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.1335G>A	21.37:g.42839793C>T			Somatic				TMPRSS2_ENST00000458356.1_Silent_p.L445L|TMPRSS2_ENST00000332149.5_Silent_p.L445L	p.L482L	NM_001135099.1	NP_001128571.1	WXS	Illumina GAIIx	Phase_I	O15393	TMPS2_HUMAN			13	1506	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	445			Peptidase S1.		A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Silent	SNP	ENST00000332149.5	37	c.1446G>A	CCDS33564.1																																																																																				0.532	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			8	78	8	78	---	---	---	---
PWP2	5822	broad.mit.edu	37	21	45535158	45535158	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr21:45535158G>T	ENST00000291576.7	+	6	611	c.484G>T	c.(484-486)Ggg>Tgg	p.G162W		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	162					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CTTTGTGGTTGGGAGCAAAGA	0.587																																						ENST00000291576.7																			0				cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21						c.(484-486)Ggg>Tgg		PWP2 periodic tryptophan protein homolog (yeast)							160.0	146.0	150.0					21																	45535158		2203	4300	6503	SO:0001583	missense	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45535158G>T		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.484G>T	21.37:g.45535158G>T	ENSP00000291576:p.Gly162Trp		Somatic					p.G162W	NM_005049.2	NP_005040.2	WXS	Illumina GAIIx	Phase_I	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	6	611	+			162					B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	37	c.484G>T	CCDS33579.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.85|14.85	2.658597|2.658597	0.47467|0.47467	.|.	.|.	ENSG00000241945|ENSG00000241945	ENST00000291576|ENST00000456705	T|T	0.50001|0.57107	0.76|0.42	4.46|4.46	4.46|4.46	0.54185|0.54185	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76449|0.76449	0.3989|0.3989	M|M	0.89968|0.89968	3.075|3.075	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.82694|0.82694	-0.0330|-0.0330	10|7	0.87932|0.62326	D|D	0|0.03	-8.8753|-8.8753	17.1005|17.1005	0.86648|0.86648	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	162|.	Q15269|.	PWP2_HUMAN|.	W|F	162|128	ENSP00000291576:G162W|ENSP00000411749:L128F	ENSP00000291576:G162W|ENSP00000411749:L128F	G|L	+|+	1|3	0|2	PWP2|PWP2	44359586|44359586	1.000000|1.000000	0.71417|0.71417	0.920000|0.920000	0.36463|0.36463	0.914000|0.914000	0.54420|0.54420	9.480000|9.480000	0.97931|0.97931	2.223000|2.223000	0.72356|0.72356	0.655000|0.655000	0.94253|0.94253	GGG|TTG		0.587	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		6	173	6	173	---	---	---	---
AP1B1	162	broad.mit.edu	37	22	29727447	29727447	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr22:29727447C>A	ENST00000405198.1	-	18	2546	c.2515G>T	c.(2515-2517)Ggg>Tgg	p.G839W	AP1B1_ENST00000356015.2_Missense_Mutation_p.G832W|AP1B1_ENST00000432560.2_Missense_Mutation_p.G832W|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000317368.7_Missense_Mutation_p.G812W|AP1B1_ENST00000415447.1_Missense_Mutation_p.G832W|AP1B1_ENST00000357586.2_Missense_Mutation_p.G839W|SNORD125_ENST00000459538.1_RNA|AP1B1_ENST00000402502.1_Missense_Mutation_p.G832W			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	839					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCCATCTTCCCGTCCTCCACA	0.577																																						ENST00000357586.2																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(2515-2517)Ggg>Tgg		adaptor-related protein complex 1, beta 1 subunit							189.0	182.0	185.0					22																	29727447		2203	4300	6503	SO:0001583	missense	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29727447C>A	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.2515G>T	22.37:g.29727447C>A	ENSP00000384194:p.Gly839Trp		Somatic				AP1B1_ENST00000402502.1_Missense_Mutation_p.G832W|AP1B1_ENST00000415447.1_Missense_Mutation_p.G832W|AP1B1_ENST00000317368.7_Missense_Mutation_p.G812W|AP1B1_ENST00000356015.2_Missense_Mutation_p.G832W|AP1B1_ENST00000405198.1_Missense_Mutation_p.G839W|AP1B1_ENST00000432560.2_Missense_Mutation_p.G832W|AP1B1_ENST00000472057.1_5'UTR	p.G839W	NM_001127.3	NP_001118	WXS	Illumina GAIIx	Phase_I	Q10567	AP1B1_HUMAN			19	2701	-			839					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.2515G>T	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569623	0.65765	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447	T;T;T;T;T;T;T	0.35789	1.29;1.3;1.29;1.29;1.48;1.29;1.29	4.51	4.51	0.55191	Coatomer/calthrin adaptor appendage, C-terminal subdomain (1);Clathrin adaptor, beta-adaptin, appendage, C-terminal subdomain (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64114	0.2569	M	0.82193	2.58	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.71358	-0.4617	10	0.87932	D	0	-21.6186	16.984	0.86335	0.0:1.0:0.0:0.0	.	392;812;832;839;832;36	B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3;Q7Z3M8	.;.;.;AP1B1_HUMAN;.;.	W	839;832;832;839;812;832;832	ENSP00000350199:G839W;ENSP00000348297:G832W;ENSP00000400065:G832W;ENSP00000384194:G839W;ENSP00000319361:G812W;ENSP00000386071:G832W;ENSP00000387612:G832W	ENSP00000319361:G812W	G	-	1	0	AP1B1	28057447	1.000000	0.71417	0.988000	0.46212	0.218000	0.24690	7.598000	0.82745	2.328000	0.79073	0.557000	0.71058	GGG		0.577	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		6	202	6	202	---	---	---	---
HMGXB4	10042	broad.mit.edu	37	22	35661213	35661213	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr22:35661213C>A	ENST00000216106.5	+	5	960	c.832C>A	c.(832-834)Cac>Aac	p.H278N	HMGXB4_ENST00000444518.2_Missense_Mutation_p.H169N	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	278					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CGCAGAGTCCCACAGTGCTAA	0.517																																						ENST00000216106.5																			0				breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(832-834)Cac>Aac		HMG box domain containing 4							78.0	75.0	76.0					22																	35661213		2203	4300	6503	SO:0001583	missense	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35661213C>A	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.832C>A	22.37:g.35661213C>A	ENSP00000216106:p.His278Asn		Somatic				HMGXB4_ENST00000444518.2_Missense_Mutation_p.H169N	p.H278N	NM_001003681.2	NP_001003681.1	WXS	Illumina GAIIx	Phase_I	Q9UGU5	HMGX4_HUMAN			5	960	+			278					O75672|O75673|Q9UMT5	Missense_Mutation	SNP	ENST00000216106.5	37	c.832C>A	CCDS33641.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505094	0.44558	.	.	ENSG00000100281	ENST00000420166;ENST00000444518;ENST00000455359;ENST00000216106	T;T;T;T	0.44881	0.91;2.26;0.91;2.26	5.71	5.71	0.89125	.	0.373480	0.31747	N	0.007140	T	0.33904	0.0879	N	0.24115	0.695	0.38661	D	0.952079	B	0.23650	0.089	B	0.16722	0.016	T	0.17992	-1.0351	10	0.66056	D	0.02	-4.6863	18.4046	0.90529	0.0:1.0:0.0:0.0	.	278	Q9UGU5	HMGX4_HUMAN	N	169;169;169;278	ENSP00000401658:H169N;ENSP00000398302:H169N;ENSP00000415500:H169N;ENSP00000216106:H278N	ENSP00000216106:H278N	H	+	1	0	HMGXB4	33991213	0.992000	0.36948	1.000000	0.80357	0.993000	0.82548	3.005000	0.49521	2.861000	0.98227	0.650000	0.86243	CAC		0.517	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		5	65	5	65	---	---	---	---
MIEF1	54471	broad.mit.edu	37	22	39910032	39910032	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr22:39910032A>T	ENST00000325301.2	+	6	1520	c.1096A>T	c.(1096-1098)Atc>Ttc	p.I366F	MIEF1_ENST00000404569.1_Missense_Mutation_p.I366F|MIEF1_ENST00000402881.1_Missense_Mutation_p.I366F	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	366					mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)										GTGCCTCAAGATCCTCAAGGC	0.642											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325301.2																			0											c.(1096-1098)Atc>Ttc		mitochondrial elongation factor 1							65.0	57.0	60.0					22																	39910032		2203	4300	6503	SO:0001583	missense	54471							g.chr22:39910032A>T	AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"""Smith-Magenis syndrome chromosome region, candidate 7-like"""	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.1096A>T	22.37:g.39910032A>T	ENSP00000327124:p.Ile366Phe		Somatic	OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	MIEF1_ENST00000402881.1_Missense_Mutation_p.I366F|MIEF1_ENST00000404569.1_Missense_Mutation_p.I366F	p.I366F	NM_019008.4	NP_061881.2	WXS	Illumina GAIIx	Phase_I					6	1520	+			366					Q7L890|Q9BUI3	Missense_Mutation	SNP	ENST00000325301.2	37	c.1096A>T	CCDS13995.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.108205	0.56291	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	T;T;T	0.10477	2.87;2.87;2.87	6.07	5.03	0.67393	.	0.149661	0.64402	D	0.000009	T	0.18964	0.0455	M	0.63843	1.955	0.58432	D	0.999996	B;P	0.43542	0.395;0.81	B;P	0.47528	0.261;0.549	T	0.00363	-1.1788	10	0.56958	D	0.05	-22.229	12.4059	0.55439	0.9338:0.0:0.0662:0.0	.	366;366	Q9NQG6;B0QY95	MID51_HUMAN;.	F	366	ENSP00000385110:I366F;ENSP00000327124:I366F;ENSP00000385191:I366F	ENSP00000327124:I366F	I	+	1	0	SMCR7L	38239978	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.903000	0.48711	2.326000	0.78906	0.533000	0.62120	ATC		0.642	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321325.1	NM_019008		14	74	14	74	---	---	---	---
SULT4A1	25830	broad.mit.edu	37	22	44258260	44258260	+	Start_Codon_SNP	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr22:44258260C>A	ENST00000330884.4	-	1	123	c.3G>T	c.(1-3)atG>atT	p.M1I	SULT4A1_ENST00000540422.1_Start_Codon_SNP_p.M1I|SULT4A1_ENST00000249130.5_Start_Codon_SNP_p.M1I	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	1					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		CGCTCTCCGCCATgccgccgc	0.791																																						ENST00000330884.4																			0				kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9						c.(1-3)atG>atT		sulfotransferase family 4A, member 1							18.0	24.0	22.0					22																	44258260		2195	4296	6491	SO:0001582	initiator_codon_variant	25830				3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity	g.chr22:44258260C>A	AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540		"""Sulfotransferases, cytosolic"""	14903	protein-coding gene	gene with protein product		608359				10698717	Standard	NM_014351		Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.3G>T	22.37:g.44258260C>A	ENSP00000332565:p.Met1Ile		Somatic				SULT4A1_ENST00000249130.5_Start_Codon_SNP_p.M1I|SULT4A1_ENST00000540422.1_Start_Codon_SNP_p.M1I	p.M1I	NM_014351.3	NP_055166.1	WXS	Illumina GAIIx	Phase_I	Q9BR01	ST4A1_HUMAN		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)	1	123	-		Ovarian(80;0.024)|all_neural(38;0.0416)	1					B2R7N3|O43728	Translation_Start_Site	SNP	ENST00000330884.4	37	c.3G>T	CCDS14051.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.218009	0.39201	.	.	ENSG00000130540	ENST00000330884;ENST00000540422;ENST00000249130	T;T;T	0.05717	4.96;3.4;4.53	3.76	2.73	0.32206	.	0.000000	0.85682	U	0.000000	T	0.06872	0.0175	.	.	.	0.80722	D	1	B;B	0.17038	0.02;0.003	B;B	0.14578	0.011;0.004	T	0.17776	-1.0358	9	0.87932	D	0	.	10.1477	0.42774	0.0:0.8968:0.0:0.1032	.	1;1	B7Z2E1;Q9BR01	.;ST4A1_HUMAN	I	1	ENSP00000332565:M1I;ENSP00000439141:M1I;ENSP00000249130:M1I	ENSP00000249130:M1I	M	-	3	0	SULT4A1	42589593	1.000000	0.71417	0.993000	0.49108	0.040000	0.13550	4.946000	0.63576	0.546000	0.28920	-0.768000	0.03414	ATG		0.791	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280660.2	NM_014351	Missense_Mutation	5	52	5	52	---	---	---	---
SBF1	6305	broad.mit.edu	37	22	50905973	50905973	+	Silent	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr22:50905973C>A	ENST00000390679.3	-	4	610	c.426G>T	c.(424-426)acG>acT	p.T142T	SBF1_ENST00000380817.3_Silent_p.T142T|SBF1_ENST00000348911.6_Silent_p.T143T			O95248	MTMR5_HUMAN	SET binding factor 1	142	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGAACACCTCCGTGTGGTCGA	0.657																																						ENST00000380817.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(424-426)acG>acT		SET binding factor 1							78.0	90.0	86.0					22																	50905973		2173	4259	6432	SO:0001819	synonymous_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50905973C>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.426G>T	22.37:g.50905973C>A			Somatic				SBF1_ENST00000348911.6_Silent_p.T143T|SBF1_ENST00000390679.3_Silent_p.T142T	p.T142T	NM_002972.2	NP_002963.2	WXS	Illumina GAIIx	Phase_I	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	4	609	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)				DENN.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37	c.426G>T																																																																																					0.657	SBF1-201	KNOWN	basic	protein_coding	protein_coding				5	116	5	116	---	---	---	---
SHOX	6473	broad.mit.edu	37	X	591826	591826	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:591826A>T	ENST00000554971.1	+	1	285	c.194A>T	c.(193-195)cAc>cTc	p.H65L	SHOX_ENST00000381575.1_Missense_Mutation_p.H65L|SHOX_ENST00000381578.1_Missense_Mutation_p.H65L|SHOX_ENST00000334060.3_Missense_Mutation_p.H65L			O15266	SHOX_HUMAN	short stature homeobox	65					skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCGGCGGCCACTGCCCGGTG	0.587																																					Ovarian(95;18 1419 12424 14056 28266)	ENST00000381578.1																			0				endometrium(3)|lung(9)|prostate(1)	13						c.(193-195)cAc>cTc		short stature homeobox							76.0	92.0	86.0					X																	591826		2203	4296	6499	SO:0001583	missense	6473				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:591826A>T	U82668	CCDS14106.1, CCDS14107.1	Xp22.33 and Yp11.32	2014-07-16			ENSG00000185960	ENSG00000185960		"""Pseudoautosomal regions / PAR1"", ""Homeoboxes / PRD class"""	10853	protein-coding gene	gene with protein product		312865, 400020				9259282, 9140395	Standard	XR_247282		Approved	PHOG, GCFX, SS, SHOXY	uc004cph.1	O15266	OTTHUMG00000021053	ENST00000554971.1:c.194A>T	X.37:g.591826A>T	ENSP00000452016:p.His65Leu		Somatic				SHOX_ENST00000381575.1_Missense_Mutation_p.H65L|SHOX_ENST00000334060.3_Missense_Mutation_p.H65L|SHOX_ENST00000554971.1_Missense_Mutation_p.H65L	p.H65L	NM_000451.3	NP_000442.1	WXS	Illumina GAIIx	Phase_I	O15266	SHOX_HUMAN			2	885	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	65					O00412|O00413|O15267	Missense_Mutation	SNP	ENST00000554971.1	37	c.194A>T	CCDS14107.1	.	.	.	.	.	.	.	.	.	.	A	0.141	-1.102484	0.01828	.	.	ENSG00000185960	ENST00000334060;ENST00000381578;ENST00000554971;ENST00000381575	D;D;D;D	0.94092	-3.35;-3.22;-3.22;-3.35	2.26	0.809	0.18725	.	0.532229	0.16071	N	0.231003	D	0.87398	0.6167	L	0.54323	1.7	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.70920	-0.4741	10	0.16420	T	0.52	.	3.9423	0.09333	0.6574:0.2124:0.1302:0.0	.	65;65	O15266-2;O15266	.;SHOX_HUMAN	L	65	ENSP00000335505:H65L;ENSP00000370990:H65L;ENSP00000452016:H65L;ENSP00000370987:H65L	ENSP00000335505:H65L	H	+	2	0	SHOX	511826	1.000000	0.71417	0.966000	0.40874	0.399000	0.30720	4.031000	0.57267	0.631000	0.30412	0.227000	0.17789	CAC		0.587	SHOX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411999.3	NM_000451		22	141	22	141	---	---	---	---
SYTL4	94121	broad.mit.edu	37	X	99956498	99956498	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:99956498C>A	ENST00000372989.1	-	5	613	c.282G>T	c.(280-282)caG>caT	p.Q94H	SYTL4_ENST00000263033.5_Missense_Mutation_p.Q94H|SYTL4_ENST00000454200.2_Missense_Mutation_p.Q94H|SYTL4_ENST00000372981.1_Missense_Mutation_p.Q94H|SYTL4_ENST00000455616.1_Missense_Mutation_p.Q94H|SYTL4_ENST00000276141.6_Missense_Mutation_p.Q94H	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	94	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CATTGCTTTCCTGTATGCGGC	0.582																																						ENST00000372981.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.(280-282)caG>caT		synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						110.0	93.0	99.0					X																	99956498		2203	4300	6503	SO:0001583	missense	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99956498C>A		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.282G>T	X.37:g.99956498C>A	ENSP00000362080:p.Gln94His		Somatic				SYTL4_ENST00000454200.2_Missense_Mutation_p.Q94H|SYTL4_ENST00000455616.1_Missense_Mutation_p.Q94H|SYTL4_ENST00000263033.5_Missense_Mutation_p.Q94H|SYTL4_ENST00000372989.1_Missense_Mutation_p.Q94H|SYTL4_ENST00000276141.6_Missense_Mutation_p.Q94H	p.Q94H			WXS	Illumina GAIIx	Phase_I	Q96C24	SYTL4_HUMAN			3	468	-			94			RabBD.		Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	c.282G>T	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	C	0.226	-1.024555	0.02061	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033;ENST00000372981	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.25	-0.0317	0.13908	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.645253	0.16762	N	0.200564	T	0.46737	0.1408	N	0.04636	-0.2	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.11329	0.006;0.001	T	0.22906	-1.0203	9	.	.	.	-6.4622	1.4789	0.02432	0.2858:0.3069:0.2543:0.153	.	94;94	Q96C24-2;Q96C24	.;SYTL4_HUMAN	H	94	ENSP00000362080:Q94H;ENSP00000390252:Q94H;ENSP00000403556:Q94H;ENSP00000276141:Q94H;ENSP00000263033:Q94H;ENSP00000362072:Q94H	.	Q	-	3	2	SYTL4	99843154	0.892000	0.30473	0.825000	0.32803	0.064000	0.16182	-0.019000	0.12546	-0.066000	0.12998	-0.945000	0.02674	CAG		0.582	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		6	81	6	81	---	---	---	---
SEPT6	23157	broad.mit.edu	37	X	118767429	118767429	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:118767429C>A	ENST00000343984.5	-	8	1247	c.983G>T	c.(982-984)aGg>aTg	p.R328M	SEPT6_ENST00000467310.1_5'Flank|SEPT6_ENST00000394610.1_Missense_Mutation_p.R328M|SEPT6_ENST00000354416.3_Missense_Mutation_p.R328M|SEPT6_ENST00000394616.4_Missense_Mutation_p.R270M|SEPT6_ENST00000394617.2_Missense_Mutation_p.R358M|SEPT6_ENST00000489216.1_Missense_Mutation_p.R328M|SEPT6_ENST00000360156.7_Missense_Mutation_p.R328M|SEPT6_ENST00000354228.4_Missense_Mutation_p.R328M	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	328					cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GAACTCGTTCCTTTTGGCCTC	0.448			T	MLL	AML																																	ENST00000394610.1				Dom	yes		X	Xq24	23157	T	septin 6			L	MLL		AML		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						c.(982-984)aGg>aTg		septin 6							224.0	209.0	214.0					X																	118767429		2203	4300	6503	SO:0001583	missense	23157				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	g.chrX:118767429C>A	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"""Septins"""	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.983G>T	X.37:g.118767429C>A	ENSP00000341524:p.Arg328Met		Somatic				SEPT6_ENST00000354416.3_Missense_Mutation_p.R328M|SEPT6_ENST00000394617.2_Missense_Mutation_p.R358M|SEPT6_ENST00000394616.4_Missense_Mutation_p.R270M|SEPT6_ENST00000360156.7_Missense_Mutation_p.R328M|SEPT6_ENST00000343984.5_Missense_Mutation_p.R328M|SEPT6_ENST00000354228.4_Missense_Mutation_p.R328M|SEPT6_ENST00000489216.1_Missense_Mutation_p.R328M	p.R328M	NM_145799.3	NP_665798.1	WXS	Illumina GAIIx	Phase_I	Q14141	SEPT6_HUMAN			8	1247	-			328					Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Missense_Mutation	SNP	ENST00000343984.5	37	c.983G>T	CCDS14584.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141375	0.77775	.	.	ENSG00000125354	ENST00000360156;ENST00000354228;ENST00000489216;ENST00000354416;ENST00000394610;ENST00000343984;ENST00000394616;ENST00000394617	D;D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.92662	0.7668	M	0.90425	3.115	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.996;0.997	D;D;D;P	0.72075	0.976;0.973;0.91;0.903	D	0.94105	0.7365	10	0.87932	D	0	.	17.254	0.87050	0.0:1.0:0.0:0.0	.	358;270;328;328	F5H1J5;B4E049;Q14141;Q548C9	.;.;SEPT6_HUMAN;.	M	328;328;328;328;328;328;270;358	ENSP00000353278:R328M;ENSP00000346169:R328M;ENSP00000418715:R328M;ENSP00000346397:R328M;ENSP00000378108:R328M;ENSP00000341524:R328M;ENSP00000378114:R270M;ENSP00000378115:R358M	ENSP00000341524:R328M	R	-	2	0	SEPT6	118651457	1.000000	0.71417	0.995000	0.50966	0.609000	0.37215	7.471000	0.80985	2.286000	0.76751	0.556000	0.70494	AGG		0.448	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		6	208	6	208	---	---	---	---
BRS3	680	broad.mit.edu	37	X	135572582	135572582	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:135572582G>A	ENST00000370648.3	+	2	953	c.725G>A	c.(724-726)aGg>aAg	p.R242K		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	242					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TTGATTGCTAGGACCCTTTAC	0.388																																						ENST00000370648.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23						c.(724-726)aGg>aAg		bombesin-like receptor 3							79.0	74.0	76.0					X																	135572582		2203	4299	6502	SO:0001583	missense	680				adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity	g.chrX:135572582G>A		CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.725G>A	X.37:g.135572582G>A	ENSP00000359682:p.Arg242Lys		Somatic					p.R242K	NM_001727.1	NP_001718.1	WXS	Illumina GAIIx	Phase_I	P32247	BRS3_HUMAN			2	953	+	Acute lymphoblastic leukemia(192;0.000127)		242						Missense_Mutation	SNP	ENST00000370648.3	37	c.725G>A	CCDS14656.1	.	.	.	.	.	.	.	.	.	.	G	6.919	0.539156	0.13250	.	.	ENSG00000102239	ENST00000370648	T	0.38401	1.14	5.45	1.69	0.24217	GPCR, rhodopsin-like superfamily (1);	0.279698	0.35970	N	0.002867	T	0.21186	0.0510	N	0.25094	0.71	0.32089	N	0.592179	B	0.09022	0.002	B	0.15052	0.012	T	0.17961	-1.0352	10	0.24483	T	0.36	-2.1984	8.7869	0.34825	0.3786:0.0:0.6214:0.0	.	242	P32247	BRS3_HUMAN	K	242	ENSP00000359682:R242K	ENSP00000359682:R242K	R	+	2	0	BRS3	135400248	0.011000	0.17503	0.898000	0.35279	0.987000	0.75469	-0.004000	0.12878	0.142000	0.18901	-0.192000	0.12808	AGG		0.388	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1	NM_001727		13	20	13	20	---	---	---	---
TREX2	11219	broad.mit.edu	37	X	152713231	152713231	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:152713231G>T	ENST00000334497.2	-	10	1211	c.70C>A	c.(70-72)Cgt>Agt	p.R24S	TREX2_ENST00000338525.2_5'UTR|TREX2_ENST00000330912.2_5'UTR|TREX2_ENST00000370231.2_5'Flank|HAUS7_ENST00000421080.2_3'UTR|TREX2_ENST00000414588.1_Silent_p.A7A|HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000370232.1_Missense_Mutation_p.R24S|HAUS7_ENST00000370211.4_3'UTR|TREX2_ENST00000393862.2_5'UTR|TREX2_ENST00000402951.1_Missense_Mutation_p.R24S			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	24					DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)	nucleus (GO:0005634)	3'-5'-exodeoxyribonuclease activity (GO:0008296)|exodeoxyribonuclease III activity (GO:0008853)|magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCTGCAACGGCTTCTGCTG	0.587								Editing and processing nucleases																														ENST00000334497.2																			0				endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11						c.(70-72)Cgt>Agt	Editing and processing nucleases	three prime repair exonuclease 2							305.0	281.0	288.0					X																	152713231		876	1991	2867	SO:0001583	missense	11219				DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding	g.chrX:152713231G>T	AF151107	CCDS35437.1	Xq28	2012-05-08			ENSG00000183479	ENSG00000183479			12270	protein-coding gene	gene with protein product		300370				10391904	Standard	NM_080701		Approved		uc011myp.2	Q9BQ50	OTTHUMG00000159319	ENST00000334497.2:c.70C>A	X.37:g.152713231G>T	ENSP00000334993:p.Arg24Ser		Somatic				TREX2_ENST00000414588.1_Silent_p.A7A|TREX2_ENST00000370232.1_Missense_Mutation_p.R24S|TREX2_ENST00000402951.1_Missense_Mutation_p.R24S|HAUS7_ENST00000421080.2_3'UTR|TREX2_ENST00000393862.2_5'UTR|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000484394.1_5'UTR|HAUS7_ENST00000370211.4_3'UTR|TREX2_ENST00000338525.2_5'UTR	p.R24S			WXS	Illumina GAIIx	Phase_I	Q9BQ50	TREX2_HUMAN			10	1211	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		24					Q45F08|Q9UN77	Missense_Mutation	SNP	ENST00000334497.2	37	c.70C>A		.	.	.	.	.	.	.	.	.	.	G	1.359	-0.589300	0.03799	.	.	ENSG00000183479	ENST00000334497;ENST00000370232;ENST00000402951	T;T;T	0.50277	0.75;0.75;0.75	2.23	-0.333	0.12671	.	.	.	.	.	T	0.24812	0.0602	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19976	-1.0289	6	0.17832	T	0.49	.	2.5827	0.04822	0.0:0.1887:0.3067:0.5046	.	.	.	.	S	24	ENSP00000334993:R24S;ENSP00000359252:R24S;ENSP00000386078:R24S	ENSP00000334993:R24S	R	-	1	0	TREX2	152366425	0.000000	0.05858	0.002000	0.10522	0.055000	0.15305	-1.382000	0.02546	-0.136000	0.11475	0.272000	0.19324	CGT		0.587	TREX2-001	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000060966.1	NM_080701		6	184	6	184	---	---	---	---
