#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_filter	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
TAS1R3	83756	broad.mit.edu	37	1	1267896	1267896	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr1:1267896G>A	ENST00000339381.5	+	3	1017	c.985G>A	c.(985-987)Gcc>Acc	p.A329T		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	329					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.A329T(1)		kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		CCAGAGGGGTGCCCAGCTGCA	0.692																																						uc010nyk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(985-987)GCC>ACC		taste receptor, type 1, member 3 precursor	Aspartame(DB00168)						33.0	35.0	34.0					1																	1267896		2199	4292	6491	SO:0001583	missense	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1267896G>A	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.985G>A	1.37:g.1267896G>A	ENSP00000344411:p.Ala329Thr						p.A329T	NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	3	985	+	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	329			Extracellular (Potential).		Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	c.985G>A	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	G	9.823	1.186202	0.21870	.	.	ENSG00000169962	ENST00000339381	D	0.82433	-1.61	4.86	1.78	0.24846	Extracellular ligand-binding receptor (1);	0.780131	0.12152	N	0.494776	T	0.78259	0.4255	L	0.61387	1.9	0.09310	N	1	P	0.46395	0.877	B	0.41988	0.372	T	0.68300	-0.5445	10	0.59425	D	0.04	.	4.8968	0.13755	0.0852:0.1467:0.6166:0.1515	.	329	Q7RTX0	TS1R3_HUMAN	T	329	ENSP00000344411:A329T	ENSP00000344411:A329T	A	+	1	0	TAS1R3	1257759	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.190000	0.17057	0.464000	0.27142	-0.304000	0.09214	GCC		PASS	0.692	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			7	26	7	26	---	---	---	---
PADI4	23569	broad.mit.edu	37	1	17674483	17674483	+	Silent	SNP	C	C	A	rs144009145	byFrequency	TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr1:17674483C>A	ENST00000375448.4	+	10	1121	c.1095C>A	c.(1093-1095)ccC>ccA	p.P365P	AC004824.2_ENST00000602074.1_Intron|PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	365					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.P365P(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AAACGCTGCCCGTGGTCTTCG	0.592																																						uc001baj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1093-1095)CCC>CCA		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)						121.0	104.0	109.0					1																	17674483		2203	4300	6503	SO:0001819	synonymous_variant	23569				chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17674483C>A	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.1095C>A	1.37:g.17674483C>A						PADI4_uc009vpc.2_Silent_p.P365P	p.P365P	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	10	1123	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	365					A8K392|B2RBW0|Q5VTZ8|Q70SX4	Silent	SNP	ENST00000375448.4	37	c.1095C>A	CCDS180.1																																																																																				PASS	0.592	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		7	25	7	25	---	---	---	---
PLA2G2F	64600	broad.mit.edu	37	1	20474719	20474719	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr1:20474719G>A	ENST00000375102.3	+	5	563	c.461G>A	c.(460-462)tGc>tAc	p.C154Y		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	111					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.C154Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		AAGCAGACATGCATGTGTGAC	0.567																																						uc009vpp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(460-462)TGC>TAC		phospholipase A2, group IIF							227.0	186.0	200.0					1																	20474719		2203	4300	6503	SO:0001583	missense	64600				lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr1:20474719G>A	AL158172	CCDS204.2	1p35	2008-09-19			ENSG00000158786	ENSG00000158786	3.1.1.4		30040	protein-coding gene	gene with protein product						11112443	Standard	NM_022819		Approved		uc009vpp.1	Q9BZM2	OTTHUMG00000002704	ENST00000375102.3:c.461G>A	1.37:g.20474719G>A	ENSP00000364243:p.Cys154Tyr						p.C154Y	NM_022819	NP_073730	Q9BZM2	PA2GF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	5	559	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	111					Q5R385|Q8N217|Q9H506	Missense_Mutation	SNP	ENST00000375102.3	37	c.461G>A	CCDS204.2	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426895	0.43020	.	.	ENSG00000158786	ENST00000375102	D	0.98807	-5.15	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000003	D	0.99468	0.9811	H	0.97874	4.095	0.43203	D	0.995054	D	0.89917	1.0	D	0.91635	0.999	D	0.98164	1.0448	10	0.87932	D	0	-20.3213	14.2058	0.65732	0.0:0.0:1.0:0.0	.	154	Q9BZM2-2	.	Y	154	ENSP00000364243:C154Y	ENSP00000364243:C154Y	C	+	2	0	PLA2G2F	20347306	0.985000	0.35326	0.485000	0.27403	0.260000	0.26232	4.721000	0.61951	2.430000	0.82344	0.563000	0.77884	TGC		PASS	0.567	PLA2G2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007687.1	NM_022819		25	56	25	56	---	---	---	---
SRRM1	10250	broad.mit.edu	37	1	24995804	24995804	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr1:24995804A>G	ENST00000323848.9	+	14	2245	c.1930A>G	c.(1930-1932)Aga>Gga	p.R644G	SRRM1_ENST00000447431.2_Missense_Mutation_p.R656G|snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000374389.4_Missense_Mutation_p.R653G|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	644	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R644G(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TCCCAAACAAAGAAGCTCCCC	0.552																																					Ovarian(68;897 1494 3282 17478)	uc001bjm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(1930-1932)AGA>GGA		serine/arginine repetitive matrix 1							94.0	93.0	93.0					1																	24995804		2203	4300	6503	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24995804A>G	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.1930A>G	1.37:g.24995804A>G	ENSP00000326261:p.Arg644Gly					SRRM1_uc010oel.1_Missense_Mutation_p.R656G|SRRM1_uc009vrh.1_Missense_Mutation_p.R617G|SRRM1_uc009vri.1_Missense_Mutation_p.R573G	p.R644G	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	14	2154	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	644			Pro-rich.|Necessary for speckles and matrix localization.|Arg-rich.|Ser-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.1930A>G	CCDS255.1	.	.	.	.	.	.	.	.	.	.	A	18.77	3.694914	0.68386	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.45276	0.9;0.9;0.9	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000004	T	0.49779	0.1577	N	0.24115	0.695	0.80722	D	1	D;P	0.56968	0.978;0.608	D;B	0.64237	0.923;0.109	T	0.54931	-0.8219	10	0.87932	D	0	-2.701	15.7992	0.78439	1.0:0.0:0.0:0.0	.	656;644	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	G	644;656;653	ENSP00000326261:R644G;ENSP00000391430:R656G;ENSP00000363510:R653G	ENSP00000326261:R644G	R	+	1	2	SRRM1	24868391	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.328000	0.72915	2.143000	0.66587	0.460000	0.39030	AGA		PASS	0.552	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		14	37	14	37	---	---	---	---
TCTEX1D1	200132	broad.mit.edu	37	1	67243030	67243030	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr1:67243030G>T	ENST00000282670.2	+	5	561	c.433G>T	c.(433-435)Gga>Tga	p.G145*		NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	145								p.G145*(1)		large_intestine(2)|lung(10)|skin(1)	13						CATACTTATTGGAAGCAGATG	0.393																																						uc001dcv.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(433-435)GGA>TGA		Tctex1 domain containing 1							166.0	172.0	170.0					1																	67243030		2203	4300	6503	SO:0001587	stop_gained	200132							g.chr1:67243030G>T	AK098192	CCDS633.1	1p31.2	2008-02-05			ENSG00000152760	ENSG00000152760			26882	protein-coding gene	gene with protein product							Standard	NM_152665		Approved	FLJ40873	uc001dcv.3	Q8N7M0	OTTHUMG00000009162	ENST00000282670.2:c.433G>T	1.37:g.67243030G>T	ENSP00000282670:p.Gly145*					TCTEX1D1_uc009wau.2_RNA|TCTEX1D1_uc009wav.2_RNA	p.G145*	NM_152665	NP_689878	Q8N7M0	TC1D1_HUMAN			5	564	+			145					Q06YR9|Q5VYE1	Nonsense_Mutation	SNP	ENST00000282670.2	37	c.433G>T	CCDS633.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548429	0.65311	.	.	ENSG00000152760	ENST00000282670	.	.	.	5.93	5.93	0.95920	.	0.155598	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-52.3861	14.5052	0.67748	0.0714:0.0:0.9286:0.0	.	.	.	.	X	145	.	ENSP00000282670:G145X	G	+	1	0	TCTEX1D1	67015618	1.000000	0.71417	0.997000	0.53966	0.296000	0.27459	3.941000	0.56607	2.826000	0.97356	0.655000	0.94253	GGA		PASS	0.393	TCTEX1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025399.2	NM_152665		42	88	42	88	---	---	---	---
AK5	26289	broad.mit.edu	37	1	77752625	77752625	+	Splice_Site	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr1:77752625G>T	ENST00000354567.2	+	2	323		c.e2-1		AK5_ENST00000317704.4_Splice_Site|AK5_ENST00000344720.5_Intron	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5						ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)	p.?(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TTATATTTCAGAGCCTTTTGA	0.284																																						uc001dhn.2																			2	Unknown(2)		lung(2)	skin(1)	1						c.e2-1		adenylate kinase 5 isoform 1							57.0	60.0	59.0					1																	77752625		2201	4299	6500	SO:0001630	splice_region_variant	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77752625G>T	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.61-1G>T	1.37:g.77752625G>T						AK5_uc001dho.2_Intron|AK5_uc001dhm.1_Splice_Site_p.S21_splice	p.S21_splice	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN			2	318	+								Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Splice_Site	SNP	ENST00000354567.2	37	c.61_splice	CCDS675.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394874	0.62066	.	.	ENSG00000154027	ENST00000354567	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9742	0.97299	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AK5	77525213	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	9.406000	0.97321	2.809000	0.96659	0.650000	0.86243	.		PASS	0.284	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858	Intron	11	43	11	43	---	---	---	---
GSTM5	2949	broad.mit.edu	37	1	110255794	110255794	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr1:110255794G>T	ENST00000256593.3	+	3	224	c.166G>T	c.(166-168)Gac>Tac	p.D56Y	GSTM5_ENST00000369813.1_5'UTR|GSTM5_ENST00000369812.5_Missense_Mutation_p.D56Y	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	56	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)	p.D56Y(1)		NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GCTGGGCCTGGACTTTCCCAA	0.537																																						uc001dyn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(6)	6						c.(166-168)GAC>TAC		glutathione S-transferase mu 5	Glutathione(DB00143)						49.0	51.0	51.0					1																	110255794		2203	4297	6500	SO:0001583	missense	2949				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	g.chr1:110255794G>T	L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4637	protein-coding gene	gene with protein product		138385	"""glutathione S-transferase M5"""			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	ENST00000256593.3:c.166G>T	1.37:g.110255794G>T	ENSP00000256593:p.Asp56Tyr					GSTM5_uc010ovu.1_5'UTR	p.D56Y	NM_000851	NP_000842	P46439	GSTM5_HUMAN		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	3	237	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	56			GST N-terminal.		A8K0V8|Q6PD78	Missense_Mutation	SNP	ENST00000256593.3	37	c.166G>T	CCDS811.1	.	.	.	.	.	.	.	.	.	.	g	18.20	3.570873	0.65765	.	.	ENSG00000134201	ENST00000256593;ENST00000369812	T;T	0.42900	0.96;3.62	4.19	4.19	0.49359	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.300320	0.28354	U	0.015649	T	0.65481	0.2695	H	0.94306	3.52	0.46749	D	0.999186	D	0.63046	0.992	D	0.63113	0.911	T	0.76198	-0.3047	10	0.87932	D	0	.	13.9584	0.64164	0.0:0.0:1.0:0.0	.	56	P46439	GSTM5_HUMAN	Y	56	ENSP00000256593:D56Y;ENSP00000358827:D56Y	ENSP00000256593:D56Y	D	+	1	0	GSTM5	110057317	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.192000	0.72069	2.321000	0.78463	0.499000	0.49734	GAC		PASS	0.537	GSTM5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032200.1	NM_000851		16	53	16	53	---	---	---	---
HORMAD1	84072	broad.mit.edu	37	1	150680853	150680853	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr1:150680853C>G	ENST00000361824.2	-	9	531	c.426G>C	c.(424-426)ttG>ttC	p.L142F	HORMAD1_ENST00000368993.2_Missense_Mutation_p.L142F|HORMAD1_ENST00000322343.7_Missense_Mutation_p.L135F|HORMAD1_ENST00000368995.4_Missense_Mutation_p.L62F	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	142	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)		p.L142F(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TGTCAGTAGACAACATGCTAG	0.328																																						uc001evk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(424-426)TTG>TTC		HORMA domain containing 1							123.0	114.0	117.0					1																	150680853		2203	4300	6503	SO:0001583	missense	84072				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		g.chr1:150680853C>G	AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.426G>C	1.37:g.150680853C>G	ENSP00000355167:p.Leu142Phe					HORMAD1_uc001evl.1_Missense_Mutation_p.L135F|HORMAD1_uc001evm.1_Missense_Mutation_p.L62F	p.L142F	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		9	532	-	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		142			HORMA.		A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	ENST00000361824.2	37	c.426G>C	CCDS967.1	.	.	.	.	.	.	.	.	.	.	C	8.366	0.834252	0.16820	.	.	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824;ENST00000368987;ENST00000442853	T;T;T;T	0.46063	0.88;1.43;1.44;1.43	5.75	1.97	0.26223	DNA-binding HORMA (4);	0.366932	0.29266	N	0.012643	T	0.06371	0.0164	N	0.17082	0.46	0.09310	N	1	B;B;B	0.17268	0.021;0.006;0.002	B;B;B	0.12837	0.008;0.004;0.005	T	0.34179	-0.9839	10	0.13853	T	0.58	-2.9756	2.3413	0.04261	0.1239:0.1468:0.128:0.6012	.	62;135;142	Q86X24-4;Q86X24-2;Q86X24	.;.;HORM1_HUMAN	F	62;142;71;62;135;142;71;64	ENSP00000357991:L62F;ENSP00000357989:L142F;ENSP00000326489:L135F;ENSP00000355167:L142F	ENSP00000326489:L135F	L	-	3	2	HORMAD1	148947477	0.915000	0.31059	0.966000	0.40874	0.705000	0.40729	0.100000	0.15231	0.437000	0.26423	-0.294000	0.09567	TTG		PASS	0.328	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1	NM_032132		15	38	15	38	---	---	---	---
OR6Y1	391112	broad.mit.edu	37	1	158516935	158516935	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr1:158516935C>G	ENST00000302617.3	-	1	960	c.961G>C	c.(961-963)Ggg>Cgg	p.G321R		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	321						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G321R(1)		NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CTGAAAGCCCCATTTCCCTGG	0.463																																						uc010pil.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(961-963)GGG>CGG		olfactory receptor, family 6, subfamily Y,							84.0	82.0	83.0					1																	158516935		2203	4300	6503	SO:0001583	missense	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158516935C>G	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.961G>C	1.37:g.158516935C>G	ENSP00000304807:p.Gly321Arg						p.G321R	NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN			1	961	-	all_hematologic(112;0.0378)		321			Cytoplasmic (Potential).		Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	c.961G>C	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	C	9.667	1.145728	0.21288	.	.	ENSG00000197532	ENST00000302617	T	0.06142	3.34	4.62	0.248	0.15526	.	1.826140	0.03946	N	0.287719	T	0.01061	0.0035	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46386	-0.9195	10	0.30854	T	0.27	.	6.778	0.23630	0.0:0.4301:0.0:0.5699	.	321	Q8NGX8	OR6Y1_HUMAN	R	321	ENSP00000304807:G321R	ENSP00000304807:G321R	G	-	1	0	OR6Y1	156783559	.	.	0.000000	0.03702	0.009000	0.06853	.	.	0.169000	0.19679	0.655000	0.94253	GGG		PASS	0.463	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		18	45	18	45	---	---	---	---
OR6Y1	391112	broad.mit.edu	37	1	158517161	158517162	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr1:158517161_158517162GG>TT	ENST00000302617.3	-	1	733_734	c.734_735CC>AA	c.(733-735)aCC>aAA	p.T245K		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T245T(1)|p.T245N(1)|p.T245K(1)		NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGGAGGCACAGGTGGAGAATGC	0.505																																						uc010pil.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(733-735)ACC>ACA|c.(733-735)ACC>AAC		olfactory receptor, family 6, subfamily Y,																																				SO:0001583	missense	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517161G>T|g.chr1:158517162G>T	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.734_735delinsTT	1.37:g.158517161_158517162delinsTT	ENSP00000304807:p.Thr245Lys						p.T245T|p.T245N	NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN			1	735|734	-	all_hematologic(112;0.0378)		245			Helical; Name=6; (Potential).		Q6IFS0	Silent|Missense_Mutation	SNP	ENST00000302617.3	37	c.735C>A|c.734C>A	CCDS30899.1																																																																																				PASS	0.505	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		5	49	5	49	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158615049	158615049	+	Silent	SNP	G	G	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr1:158615049G>A	ENST00000368147.4	-	29	4303	c.4123C>T	c.(4123-4125)Cta>Tta	p.L1375L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1375					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.L1375L(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTCTCTCTAGCTTGACAGCT	0.478																																						uc001fst.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(4123-4125)CTA>TTA		spectrin, alpha, erythrocytic 1							165.0	148.0	154.0					1																	158615049		1895	4127	6022	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158615049G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4123C>T	1.37:g.158615049G>A							p.L1375L	NM_003126	NP_003117	P02549	SPTA1_HUMAN			29	4322	-	all_hematologic(112;0.0378)		1375			Spectrin 13.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.4123C>T	CCDS41423.1																																																																																				PASS	0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		29	97	29	97	---	---	---	---
OR10J3	441911	broad.mit.edu	37	1	159283536	159283536	+	Missense_Mutation	SNP	C	C	T	rs369650761		TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr1:159283536C>T	ENST00000332217.5	-	1	913	c.914G>A	c.(913-915)cGt>cAt	p.R305H		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R305H(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTTTGCCCCACGGCTCTGTGC	0.428																																						uc010piu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(913-915)CGT>CAT		olfactory receptor, family 10, subfamily J,		C	HIS/ARG	0,4406		0,0,2203	76.0	72.0	73.0		914	-10.4	0.0	1		73	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR10J3	NM_001004467.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	305/330	159283536	1,13005	2203	4300	6503	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159283536C>T		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.914G>A	1.37:g.159283536C>T	ENSP00000331789:p.Arg305His						p.R305H	NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN			1	914	-	all_hematologic(112;0.0429)		305			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000332217.5	37	c.914G>A	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	C	9.321	1.058110	0.19987	0.0	1.16E-4	ENSG00000196266	ENST00000332217	T	0.00538	6.71	5.21	-10.4	0.00318	.	2.411510	0.03146	N	0.167340	T	0.00073	0.0002	N	0.08118	0	0.09310	N	1	B	0.30937	0.301	B	0.12156	0.007	T	0.42749	-0.9433	10	0.72032	D	0.01	.	8.9281	0.35652	0.1832:0.6022:0.0818:0.1328	.	305	Q5JRS4	O10J3_HUMAN	H	305	ENSP00000331789:R305H	ENSP00000331789:R305H	R	-	2	0	OR10J3	157550160	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-5.570000	0.00112	-3.685000	0.00121	-1.004000	0.02495	CGT		PASS	0.428	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			24	66	24	66	---	---	---	---
RABGAP1L	9910	broad.mit.edu	37	1	174188304	174188304	+	Silent	SNP	C	C	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr1:174188304C>T	ENST00000251507.4	+	2	183	c.9C>T	c.(7-9)gtC>gtT	p.V3V	RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Silent_p.V3V	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0								p.V3V(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						AAATGGAGGTCAGAGCTTCAT	0.353																																						uc001gjx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|kidney(1)	4						c.(7-9)GTC>GTT		RAB GTPase activating protein 1-like isoform A							139.0	127.0	131.0					1																	174188304		2203	4300	6503	SO:0001819	synonymous_variant	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174188304C>T	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.9C>T	1.37:g.174188304C>T						RABGAP1L_uc009wwq.1_Silent_p.V3V|RABGAP1L_uc001gjw.2_Silent_p.V3V	p.V3V	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN			2	204	+			3					B7ZAA4	Silent	SNP	ENST00000251507.4	37	c.9C>T	CCDS1314.1																																																																																				PASS	0.353	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		5	31	5	31	---	---	---	---
TDRD5	163589	broad.mit.edu	37	1	179631350	179631350	+	Missense_Mutation	SNP	G	G	A	rs145054790		TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr1:179631350G>A	ENST00000367614.1	+	14	2631	c.2272G>A	c.(2272-2274)Gcc>Acc	p.A758T	TDRD5_ENST00000444136.1_Missense_Mutation_p.A812T|TDRD5_ENST00000294848.8_Missense_Mutation_p.A758T	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	758					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.A758T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AGGTGATGCTGCCTCCCATCT	0.433																																						uc001gnf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(2272-2274)GCC>ACC		tudor domain containing 5		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	130.0	112.0	118.0		2434,2434,2272,937,2272	3.3	0.8	1	dbSNP_134	118	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	TDRD5	NM_001199085.1,NM_001199089.1,NM_001199091.1,NM_001199092.1,NM_173533.3	58,58,58,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	812/1036,812/1036,758/982,313/537,758/982	179631350	1,13005	2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179631350G>A	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2272G>A	1.37:g.179631350G>A	ENSP00000356586:p.Ala758Thr					TDRD5_uc010pnp.1_Missense_Mutation_p.A812T|TDRD5_uc001gnh.1_Missense_Mutation_p.A313T	p.A758T	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			14	2522	+			758					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.2272G>A	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	9.606	1.130044	0.21041	2.27E-4	0.0	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.35236	2.36;2.36;2.75;1.32	5.19	3.27	0.37495	.	0.781377	0.12023	N	0.506710	T	0.34135	0.0887	L	0.59436	1.845	0.21802	N	0.999537	B;B	0.32245	0.29;0.361	B;B	0.34536	0.185;0.115	T	0.19160	-1.0314	10	0.26408	T	0.33	-39.7845	8.7408	0.34556	0.0:0.1657:0.6622:0.1721	.	812;758	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	T	758;758;812;268	ENSP00000356586:A758T;ENSP00000294848:A758T;ENSP00000406052:A812T;ENSP00000410744:A268T	ENSP00000294848:A758T	A	+	1	0	TDRD5	177897973	0.969000	0.33509	0.758000	0.31321	0.186000	0.23388	1.426000	0.34870	0.654000	0.30846	-0.188000	0.12872	GCC		PASS	0.433	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		13	48	13	48	---	---	---	---
PLA2G4A	5321	broad.mit.edu	37	1	186934540	186934540	+	Splice_Site	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr1:186934540G>T	ENST00000367466.3	+	15	1731		c.e15-1		PLA2G4A_ENST00000442353.2_Splice_Site	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)						arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.?(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	ATGTTTTTAAGATCCTGATGA	0.308																																						uc001gsc.2																			1	Unknown(1)		lung(1)	lung(2)|breast(1)	3						c.e15-1		cytosolic phospholipase A2, group IVA	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						54.0	58.0	56.0					1																	186934540		2203	4300	6503	SO:0001630	splice_region_variant	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186934540G>T	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1580-1G>T	1.37:g.186934540G>T						PLA2G4A_uc010pos.1_Splice_Site_p.D467_splice	p.D527_splice	NM_024420	NP_077734	P47712	PA24A_HUMAN			15	1785	+								B1AKG4|Q29R80	Splice_Site	SNP	ENST00000367466.3	37	c.1580_splice	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787359	0.70337	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	.	.	.	5.41	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.424	0.61015	0.0755:0.0:0.9245:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLA2G4A	185201163	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.247000	0.95444	1.285000	0.44548	0.655000	0.94253	.		PASS	0.308	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420	Intron	12	33	12	33	---	---	---	---
F13B	2165	broad.mit.edu	37	1	197021801	197021801	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr1:197021801G>T	ENST00000367412.1	-	9	1561	c.1518C>A	c.(1516-1518)aaC>aaA	p.N506K	F13B_ENST00000490002.1_5'Flank	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	506	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.N506K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CTTCTCCTCTGTTGCACTGCA	0.343																																						uc001gtt.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1516-1518)AAC>AAA		coagulation factor XIII B subunit precursor							90.0	90.0	90.0					1																	197021801		2203	4295	6498	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197021801G>T	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1518C>A	1.37:g.197021801G>T	ENSP00000356382:p.Asn506Lys						p.N506K	NM_001994	NP_001985	P05160	F13B_HUMAN			9	1562	-			506			Sushi 8.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.1518C>A	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	G	9.503	1.103844	0.20632	.	.	ENSG00000143278	ENST00000367412	D	0.82619	-1.63	5.32	-2.49	0.06403	Complement control module (1);	0.509951	0.14763	N	0.299853	T	0.69351	0.3101	L	0.47716	1.5	0.09310	N	0.999995	B	0.25351	0.124	B	0.21546	0.035	T	0.55379	-0.8150	10	0.06625	T	0.88	.	8.5516	0.33455	0.4479:0.0:0.4477:0.1044	.	506	P05160	F13B_HUMAN	K	506	ENSP00000356382:N506K	ENSP00000356382:N506K	N	-	3	2	F13B	195288424	0.001000	0.12720	0.398000	0.26321	0.536000	0.34869	-0.286000	0.08399	-0.222000	0.09958	-0.768000	0.03414	AAC		PASS	0.343	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		16	36	16	36	---	---	---	---
KDM5B	10765	broad.mit.edu	37	1	202724408	202724408	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr1:202724408T>C	ENST00000367265.3	-	11	2693	c.1529A>G	c.(1528-1530)tAc>tGc	p.Y510C	KDM5B_ENST00000367264.2_Missense_Mutation_p.Y546C|KDM5B_ENST00000456180.1_5'UTR	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	510	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.Y510C(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCAGTGCAAGTAGTTAATTGA	0.408																																						uc001gyf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|urinary_tract(1)	5						c.(1528-1530)TAC>TGC		jumonji, AT rich interactive domain 1B							99.0	101.0	100.0					1																	202724408		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202724408T>C	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1529A>G	1.37:g.202724408T>C	ENSP00000356234:p.Tyr510Cys					KDM5B_uc009xag.2_Missense_Mutation_p.Y546C|KDM5B_uc001gyg.1_Missense_Mutation_p.Y352C	p.Y510C	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			11	1645	-			510			JmjC.		O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.1529A>G	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.228964	0.79688	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.75589	-0.95;-0.95;-0.95	5.73	5.73	0.89815	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.91536	0.7327	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.973;1.0	D	0.94572	0.7772	10	0.87932	D	0	-16.1545	16.0233	0.80516	0.0:0.0:0.0:1.0	.	546;510	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	C	510;352;546;352	ENSP00000356234:Y510C;ENSP00000356233:Y546C;ENSP00000235790:Y352C	ENSP00000235790:Y352C	Y	-	2	0	KDM5B	200991031	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	8.036000	0.88901	2.186000	0.69663	0.533000	0.62120	TAC		PASS	0.408	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		24	58	24	58	---	---	---	---
KCNH1	3756	broad.mit.edu	37	1	211093036	211093036	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr1:211093036C>A	ENST00000271751.4	-	7	1435	c.1408G>T	c.(1408-1410)Gcc>Tcc	p.A470S	KCNH1_ENST00000367007.4_Missense_Mutation_p.A443S			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	470					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.A470T(1)|p.A470S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GTGGATGGGGCGATGTTCCCA	0.507																																						uc001hib.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1408-1410)GCC>TCC		potassium voltage-gated channel, subfamily H,							162.0	154.0	157.0					1																	211093036		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211093036C>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1408G>T	1.37:g.211093036C>A	ENSP00000271751:p.Ala470Ser					KCNH1_uc001hic.2_Missense_Mutation_p.A443S	p.A470S	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	7	1578	-			470					B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.1408G>T	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104512	0.56291	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.98493	-4.96;-4.96	5.57	5.57	0.84162	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.96528	0.8867	N	0.13235	0.315	0.80722	D	1	P;P	0.47841	0.648;0.901	P;P	0.53861	0.522;0.736	D	0.95176	0.8295	10	0.13108	T	0.6	.	18.5224	0.90958	0.0:1.0:0.0:0.0	.	443;470	Q14CL3;O95259	.;KCNH1_HUMAN	S	470;443	ENSP00000271751:A470S;ENSP00000355974:A443S	ENSP00000271751:A470S	A	-	1	0	KCNH1	209159659	1.000000	0.71417	0.975000	0.42487	0.991000	0.79684	7.538000	0.82048	2.623000	0.88846	0.561000	0.74099	GCC		PASS	0.507	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		4	107	4	107	---	---	---	---
LEFTY1	10637	broad.mit.edu	37	1	226075599	226075599	+	Silent	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr1:226075599G>T	ENST00000272134.5	-	2	463	c.384C>A	c.(382-384)gcC>gcA	p.A128A	LEFTY1_ENST00000492457.1_5'UTR|RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.R237S	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	128					cell growth (GO:0016049)|determination of left/right symmetry (GO:0007368)|heart morphogenesis (GO:0003007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)		p.A128A(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					TGTGCAGCGCGGCCTTGGGGA	0.746																																						uc001hpo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(382-384)GCC>GCA		left-right determination, factor B							2.0	3.0	2.0					1																	226075599		1195	3035	4230	SO:0001819	synonymous_variant	10637				cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226075599G>T	AF081507	CCDS1548.1	1q42.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000243709	ENSG00000243709			6552	protein-coding gene	gene with protein product		603037	"""left-right determination, factor B"""	LEFTB		10053005, 10886363	Standard	NM_020997		Approved	LEFTYB	uc001hpo.3	O75610	OTTHUMG00000037443	ENST00000272134.5:c.384C>A	1.37:g.226075599G>T						LEFTY1_uc010pvj.1_Missense_Mutation_p.R237S|LEFTY1_uc009xej.1_Silent_p.A128A	p.A128A	NM_020997	NP_066277	O75610	LFTY1_HUMAN			2	454	-	Breast(184;0.197)		128					B2R7U0|Q53H67|Q5TE94	Silent	SNP	ENST00000272134.5	37	c.384C>A	CCDS1548.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690555	0.48097	.	.	ENSG00000255835	ENST00000432920	D	0.81739	-1.53	3.63	-4.81	0.03180	.	.	.	.	.	T	0.63022	0.2476	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.52442	-0.8575	8	0.87932	D	0	-0.2024	0.5932	0.00731	0.1949:0.22:0.2832:0.3018	.	237	E7EUD8	.	S	237	ENSP00000414068:R237S	ENSP00000414068:R237S	R	-	1	0	RP4-559A3.7	224142222	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-0.520000	0.06252	-0.530000	0.06349	0.313000	0.20887	CGC		PASS	0.746	LEFTY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091155.1	NM_020997		3	2	3	2	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240255953	240255953	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr1:240255953G>T	ENST00000319653.9	+	1	774	c.544G>T	c.(544-546)Gac>Tac	p.D182Y		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	182					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.D325Y(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCGGACACGGACATCTATAG	0.632																																						uc010pyd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(544-546)GAC>TAC		formin 2							70.0	70.0	70.0					1																	240255953		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240255953G>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.544G>T	1.37:g.240255953G>T	ENSP00000318884:p.Asp182Tyr					FMN2_uc010pye.1_Missense_Mutation_p.D182Y	p.D182Y	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	769	+	Ovarian(103;0.127)	all_cancers(173;0.013)	182					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.544G>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557154	0.45590	.	.	ENSG00000155816	ENST00000319653	T	0.51574	0.7	4.35	4.35	0.52113	.	0.000000	0.64402	D	0.000007	T	0.66499	0.2795	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.71705	-0.4512	10	0.87932	D	0	.	17.232	0.86987	0.0:0.0:1.0:0.0	.	182	Q9NZ56	FMN2_HUMAN	Y	182	ENSP00000318884:D182Y	ENSP00000318884:D182Y	D	+	1	0	FMN2	238322576	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	8.830000	0.92063	2.125000	0.65367	0.313000	0.20887	GAC		PASS	0.632	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		13	25	13	25	---	---	---	---
OR2W3	343171	broad.mit.edu	37	1	248059542	248059542	+	Nonsense_Mutation	SNP	C	C	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr1:248059542C>G	ENST00000360358.3	+	1	654	c.654C>G	c.(652-654)taC>taG	p.Y218*	OR2W3_ENST00000537741.1_Nonsense_Mutation_p.Y218*	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y218*(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGCTCTCTTACAGCTACATTG	0.567																																						uc001idp.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(652-654)TAC>TAG		olfactory receptor, family 2, subfamily W,							202.0	182.0	189.0					1																	248059542		2203	4300	6503	SO:0001587	stop_gained	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059542C>G	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.654C>G	1.37:g.248059542C>G	ENSP00000353516:p.Tyr218*					OR2W3_uc010pzb.1_Nonsense_Mutation_p.Y218*	p.Y218*	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	923	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		218			Helical; Name=5; (Potential).		Q6IF06|Q8NG86	Nonsense_Mutation	SNP	ENST00000360358.3	37	c.654C>G	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191220	0.78902	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	.	.	.	5.29	-4.22	0.03800	.	0.000000	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0335	0.58856	0.0:0.4859:0.0:0.5141	.	.	.	.	X	218	.	ENSP00000353516:Y218X	Y	+	3	2	OR2W3	246126165	0.000000	0.05858	0.136000	0.22124	0.507000	0.33981	-2.592000	0.00898	-0.659000	0.05359	-0.320000	0.08662	TAC		PASS	0.567	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		40	127	40	127	---	---	---	---
WDR35	57539	broad.mit.edu	37	2	20113879	20113879	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr2:20113879T>C	ENST00000345530.3	-	27	3429	c.3314A>G	c.(3313-3315)tAt>tGt	p.Y1105C	WDR35_ENST00000281405.4_Missense_Mutation_p.Y1094C|WDR35_ENST00000416055.2_Intron	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1105					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)		p.Y1105C(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGGTCTTCATACTGCTGTTT	0.398																																						uc002rdi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3313-3315)TAT>TGT		WD repeat domain 35 isoform 1							139.0	140.0	140.0					2																	20113879		2203	4300	6503	SO:0001583	missense	57539							g.chr2:20113879T>C	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.3314A>G	2.37:g.20113879T>C	ENSP00000314444:p.Tyr1105Cys					WDR35_uc002rdj.2_Missense_Mutation_p.Y1094C|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Intron	p.Y1105C	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN			27	3422	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1105					B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	c.3314A>G	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.267489	0.80469	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	T;T	0.68479	-0.32;-0.33	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.83649	0.5300	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.984	D	0.86667	0.1908	10	0.72032	D	0.01	-18.9549	14.7623	0.69614	0.0:0.0:0.0:1.0	.	1094;1105	Q9P2L0-2;Q9P2L0	.;WDR35_HUMAN	C	1105;1094	ENSP00000314444:Y1105C;ENSP00000281405:Y1094C	ENSP00000281405:Y1094C	Y	-	2	0	WDR35	19977360	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.928000	0.70088	2.144000	0.66660	0.533000	0.62120	TAT		PASS	0.398	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		42	68	42	68	---	---	---	---
FAM228A	653140	broad.mit.edu	37	2	24413499	24413499	+	Nonstop_Mutation	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr2:24413499G>T	ENST00000295150.3	+	6	706	c.620G>T	c.(619-621)tGa>tTa	p.*207L		NM_001040710.1	NP_001035800.1	Q86W67	F228A_HUMAN	family with sequence similarity 228, member A	0								p.*207L(1)									GTTCCAGAATGAGCCACCGCC	0.617																																						uc002rfc.2																			1	Nonstop extension(1)		lung(1)		0						c.(619-621)TGA>TTA		hypothetical protein LOC653140							20.0	24.0	23.0					2																	24413499		2008	4185	6193	SO:0001578	stop_lost	653140							g.chr2:24413499G>T		CCDS42659.1	2p23.3	2012-07-04	2012-07-04	2012-07-04	ENSG00000186453	ENSG00000186453			34418	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 84"""	C2orf84			Standard	NM_001040710		Approved	FLJ30851	uc002rfc.3	Q86W67	OTTHUMG00000151903	ENST00000295150.3:c.620G>T	2.37:g.24413499G>T	ENSP00000295150:p.*207Leuext*42					C2orf84_uc010eyc.2_RNA	p.*207L	NM_001040710	NP_001035800	Q86W67	CB084_HUMAN			6	706	+			207						Nonstop_Mutation	SNP	ENST00000295150.3	37	c.620G>T	CCDS42659.1	.	.	.	.	.	.	.	.	.	.	G	5.242	0.230095	0.09969	.	.	ENSG00000186453	ENST00000295150	.	.	.	2.69	0.697	0.18081	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.9027	0.13782	0.0:0.2412:0.5114:0.2475	.	.	.	.	L	207	.	.	X	+	2	2	C2orf84	24267003	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-1.976000	0.01497	0.158000	0.19367	0.585000	0.79938	TGA		PASS	0.617	FAM228A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324342.1	NM_001040710		6	27	6	27	---	---	---	---
GALNT14	79623	broad.mit.edu	37	2	31133804	31133804	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr2:31133804G>A	ENST00000349752.5	-	15	2261	c.1622C>T	c.(1621-1623)tCa>tTa	p.S541L	GALNT14_ENST00000356174.3_Missense_Mutation_p.S508L|GALNT14_ENST00000406653.1_Missense_Mutation_p.S521L|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000420311.2_Missense_Mutation_p.S506L|GALNT14_ENST00000324589.5_Missense_Mutation_p.S546L	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	541	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.S541L(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GCTCATGAGTGAGGACTCACA	0.567																																						uc002rnr.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|skin(1)	3						c.(1621-1623)TCA>TTA		N-acetylgalactosaminyltransferase 14							161.0	127.0	139.0					2																	31133804		2203	4300	6503	SO:0001583	missense	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31133804G>A	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.1622C>T	2.37:g.31133804G>A	ENSP00000288988:p.Ser541Leu					GALNT14_uc002rnq.2_Missense_Mutation_p.S521L|GALNT14_uc002rns.2_Missense_Mutation_p.S546L|GALNT14_uc010ymr.1_Missense_Mutation_p.S506L	p.S541L	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN			15	2241	-	Acute lymphoblastic leukemia(172;0.155)		541			Lumenal (Potential).|Ricin B-type lectin.		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.1622C>T	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534990	0.45073	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.26	5.26	0.73747	Ricin B-related lectin (1);Ricin B lectin (3);	0.221489	0.34853	N	0.003628	T	0.57799	0.2078	M	0.80422	2.495	0.40317	D	0.978787	B;D;B;P	0.53745	0.38;0.962;0.434;0.811	B;P;P;B	0.46479	0.164;0.518;0.507;0.433	T	0.62982	-0.6738	10	0.34782	T	0.22	.	17.6483	0.88154	0.0:0.0:1.0:0.0	.	506;546;541;521	F5H263;Q96FL9-3;Q96FL9;B3KV89	.;.;GLT14_HUMAN;.	L	541;546;521;508;506	ENSP00000288988:S541L;ENSP00000314500:S546L;ENSP00000385435:S521L;ENSP00000348497:S508L;ENSP00000415514:S506L	ENSP00000314500:S546L	S	-	2	0	GALNT14	30987308	1.000000	0.71417	0.476000	0.27291	0.279000	0.26890	4.583000	0.60964	2.458000	0.83093	0.655000	0.94253	TCA		PASS	0.567	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		22	56	22	56	---	---	---	---
MEMO1	51072	broad.mit.edu	37	2	32117201	32117201	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr2:32117201T>C	ENST00000295065.5	-	6	749	c.440A>G	c.(439-441)cAt>cGt	p.H147R	DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000490459.1_Intron|MEMO1_ENST00000379383.3_Missense_Mutation_p.H150R|MEMO1_ENST00000426310.2_Missense_Mutation_p.H124R|MEMO1_ENST00000404530.1_Missense_Mutation_p.H147R	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	147					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.H147R(1)		NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					CTCATCCTTATGGCTTAAAGA	0.328																																						uc002rnx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(439-441)CAT>CGT		mediator of cell motility 1 isoform 1							60.0	64.0	62.0					2																	32117201		2203	4300	6503	SO:0001583	missense	51072				regulation of microtubule-based process	cytosol|nucleus		g.chr2:32117201T>C	AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"""chromosome 2 open reading frame 4"""	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.440A>G	2.37:g.32117201T>C	ENSP00000295065:p.His147Arg					MEMO1_uc010ymu.1_Missense_Mutation_p.H124R|MEMO1_uc010ezq.2_Missense_Mutation_p.H147R|MEMO1_uc002rny.2_Intron|MEMO1_uc002rnz.2_RNA	p.H147R	NM_015955	NP_057039	Q9Y316	MEMO1_HUMAN			6	822	-	Acute lymphoblastic leukemia(172;0.155)		147					B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Missense_Mutation	SNP	ENST00000295065.5	37	c.440A>G	CCDS1776.1	.	.	.	.	.	.	.	.	.	.	T	12.20	1.866306	0.32977	.	.	ENSG00000162959	ENST00000295065;ENST00000379383;ENST00000404530;ENST00000426310	.	.	.	5.73	5.73	0.89815	.	0.045414	0.85682	D	0.000000	T	0.32675	0.0837	N	0.03154	-0.405	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.28902	-1.0029	9	0.07813	T	0.8	-9.8954	15.6821	0.77376	0.0:0.0:0.0:1.0	.	124;147	Q9Y316-2;Q9Y316	.;MEMO1_HUMAN	R	147;150;147;124	.	ENSP00000295065:H147R	H	-	2	0	MEMO1	31970705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.038000	0.64177	2.179000	0.69175	0.482000	0.46254	CAT		PASS	0.328	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250251.2	NM_015955		39	70	39	70	---	---	---	---
CLHC1	130162	broad.mit.edu	37	2	55435829	55435829	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr2:55435829C>A	ENST00000401408.1	-	8	1177	c.832G>T	c.(832-834)Gaa>Taa	p.E278*	CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000407122.1_Nonsense_Mutation_p.E278*|CLHC1_ENST00000406437.2_Intron|CLHC1_ENST00000406076.1_Nonsense_Mutation_p.E156*	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	278								p.E278*(2)									ATTAGTTCTTCAACAATGCCT	0.313																																						uc002ryi.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(832-834)GAA>TAA		hypothetical protein LOC130162 isoform 1							133.0	131.0	132.0					2																	55435829		2203	4300	6503	SO:0001587	stop_gained	130162						binding	g.chr2:55435829C>A		CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 63"""	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.832G>T	2.37:g.55435829C>A	ENSP00000384869:p.Glu278*					C2orf63_uc002ryh.2_Intron|C2orf63_uc002ryj.2_Nonsense_Mutation_p.E156*	p.E278*	NM_152385	NP_689598	Q8NHS4	CB063_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)		8	1178	-			278					B2RDV1|Q53R93|Q8N403	Nonsense_Mutation	SNP	ENST00000401408.1	37	c.832G>T	CCDS33201.1	.	.	.	.	.	.	.	.	.	.	C	37	6.203413	0.97371	.	.	ENSG00000162994	ENST00000407122;ENST00000401408;ENST00000406076	.	.	.	5.51	5.51	0.81932	.	0.848881	0.10261	N	0.696006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-2.3567	16.9267	0.86178	0.0:1.0:0.0:0.0	.	.	.	.	X	278;278;156	.	ENSP00000384869:E278X	E	-	1	0	C2orf63	55289333	0.155000	0.22806	0.061000	0.19648	0.127000	0.20565	1.717000	0.37991	2.584000	0.87258	0.563000	0.77884	GAA		PASS	0.313	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324412.4	NM_152385		47	63	47	63	---	---	---	---
MPHOSPH10	10199	broad.mit.edu	37	2	71376518	71376518	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr2:71376518A>T	ENST00000244230.2	+	10	2183	c.1831A>T	c.(1831-1833)Agc>Tgc	p.S611C		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	611					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)	p.S611C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						AGGGAAATACAGCAAAACAGT	0.408																																						uc002sht.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1831-1833)AGC>TGC		M-phase phosphoprotein 10							72.0	70.0	71.0					2																	71376518		2203	4300	6503	SO:0001583	missense	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71376518A>T	X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.1831A>T	2.37:g.71376518A>T	ENSP00000244230:p.Ser611Cys						p.S611C	NM_005791	NP_005782	O00566	MPP10_HUMAN			10	2183	+			611					A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	c.1831A>T	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.066966	0.55539	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.23147	1.92;1.92	5.75	4.58	0.56647	.	0.729179	0.13091	N	0.414482	T	0.34337	0.0894	L	0.53249	1.67	0.09310	N	1	D	0.56746	0.977	P	0.53988	0.739	T	0.22626	-1.0211	10	0.62326	D	0.03	.	5.4687	0.16658	0.7654:0.0:0.0804:0.1542	.	611	O00566	MPP10_HUMAN	C	611;471	ENSP00000244230:S611C;ENSP00000393034:S471C	ENSP00000244230:S611C	S	+	1	0	MPHOSPH10	71230026	0.002000	0.14202	0.002000	0.10522	0.076000	0.17211	1.688000	0.37690	1.103000	0.41568	-0.327000	0.08410	AGC		PASS	0.408	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		19	17	19	17	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71743340	71743340	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr2:71743340G>T	ENST00000258104.3	+	8	1100	c.823G>T	c.(823-825)Ggg>Tgg	p.G275W	DYSF_ENST00000413539.2_Missense_Mutation_p.G306W|DYSF_ENST00000409366.1_Missense_Mutation_p.G276W|DYSF_ENST00000409744.1_Missense_Mutation_p.G276W|DYSF_ENST00000394120.2_Missense_Mutation_p.G276W|DYSF_ENST00000409582.3_Missense_Mutation_p.G306W|DYSF_ENST00000429174.2_Missense_Mutation_p.G275W|DYSF_ENST00000409651.1_Missense_Mutation_p.G307W|DYSF_ENST00000410020.3_Missense_Mutation_p.G307W|DYSF_ENST00000410041.1_Missense_Mutation_p.G307W|DYSF_ENST00000409762.1_Missense_Mutation_p.G306W	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	275	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)	p.G307W(1)|p.G275W(1)		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						TGACTCTCCTGGGGAGCTGTT	0.507																																						uc002sie.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(823-825)GGG>TGG		dysferlin isoform 8							216.0	178.0	191.0					2																	71743340		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71743340G>T	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.823G>T	2.37:g.71743340G>T	ENSP00000258104:p.Gly275Trp					DYSF_uc010feg.2_Missense_Mutation_p.G306W|DYSF_uc010feh.2_Missense_Mutation_p.G275W|DYSF_uc002sig.3_Missense_Mutation_p.G275W|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.G275W|DYSF_uc010fef.2_Missense_Mutation_p.G306W|DYSF_uc010fei.2_Missense_Mutation_p.G306W|DYSF_uc010fek.2_Missense_Mutation_p.G307W|DYSF_uc010fej.2_Missense_Mutation_p.G276W|DYSF_uc010fel.2_Missense_Mutation_p.G276W|DYSF_uc010feo.2_Missense_Mutation_p.G307W|DYSF_uc010fem.2_Missense_Mutation_p.G276W|DYSF_uc010fen.2_Missense_Mutation_p.G307W|DYSF_uc002sif.2_Missense_Mutation_p.G276W	p.G275W	NM_003494	NP_003485	O75923	DYSF_HUMAN			8	1199	+			275			Cytoplasmic (Potential).|C2 2.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.823G>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	3.583	-0.085236	0.07097	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	4.46	1.29	0.21616	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.905788	0.09499	N	0.793821	T	0.51753	0.1693	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.32128	0.308;0.308;0.308;0.308;0.176;0.176;0.176;0.176;0.308;0.308;0.192;0.192;0.308;0.357	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.31495	0.043;0.081;0.081;0.081;0.043;0.081;0.043;0.081;0.081;0.081;0.081;0.043;0.081;0.131	T	0.42565	-0.9444	10	0.66056	D	0.02	-0.7575	7.9783	0.30168	0.0:0.1362:0.3206:0.5432	.	307;307;276;276;307;276;306;275;306;306;275;275;276;275	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	W	306;306;306;275;275;307;276;276;276;307;307	ENSP00000407046:G306W;ENSP00000387137:G306W;ENSP00000386547:G306W;ENSP00000398305:G275W;ENSP00000258104:G275W;ENSP00000386683:G307W;ENSP00000377678:G276W;ENSP00000386285:G276W;ENSP00000386512:G276W;ENSP00000386881:G307W;ENSP00000386617:G307W	ENSP00000258104:G275W	G	+	1	0	DYSF	71596848	0.000000	0.05858	0.067000	0.19924	0.055000	0.15305	0.030000	0.13688	0.001000	0.14605	0.549000	0.68633	GGG		PASS	0.507	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		21	25	21	25	---	---	---	---
HK2	3099	broad.mit.edu	37	2	75113668	75113668	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr2:75113668T>A	ENST00000290573.2	+	15	2687	c.2087T>A	c.(2086-2088)gTg>gAg	p.V696E	HK2_ENST00000409174.1_Missense_Mutation_p.V668E	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	696	Catalytic.|Hexokinase type-2 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.V696E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GTGGAACTGGTGGAAGGAGAA	0.572																																						uc002snd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(2086-2088)GTG>GAG		hexokinase 2							116.0	114.0	115.0					2																	75113668		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75113668T>A		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2087T>A	2.37:g.75113668T>A	ENSP00000290573:p.Val696Glu						p.V696E	NM_000189	NP_000180	P52789	HXK2_HUMAN			15	4013	+			696			Catalytic.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.2087T>A	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.039507	0.75617	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.96830	-4.14;-4.14	5.49	5.49	0.81192	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97170	0.9075	M	0.81112	2.525	0.80722	D	1	D	0.54601	0.967	P	0.53988	0.739	D	0.97489	1.0052	10	0.72032	D	0.01	-33.4157	13.5962	0.61991	0.0:0.0:0.0:1.0	.	696	P52789	HXK2_HUMAN	E	696;696;668	ENSP00000290573:V696E;ENSP00000387140:V668E	ENSP00000290573:V696E	V	+	2	0	HK2	74967176	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.812000	0.86109	2.311000	0.77944	0.533000	0.62120	GTG		PASS	0.572	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		10	67	10	67	---	---	---	---
REG1A	5967	broad.mit.edu	37	2	79349183	79349183	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr2:79349183G>C	ENST00000233735.1	+	4	356	c.253G>C	c.(253-255)Gcc>Ccc	p.A85P		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	85	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.A85P(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TGCCTTTGTGGCCTCACTGAT	0.507																																						uc002snz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(253-255)GCC>CCC		regenerating islet-derived 1 alpha precursor							144.0	129.0	134.0					2																	79349183		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79349183G>C		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.253G>C	2.37:g.79349183G>C	ENSP00000233735:p.Ala85Pro					REG1A_uc010ffx.1_3'UTR|REG1A_uc010ysd.1_Missense_Mutation_p.A85P	p.A85P	NM_002909	NP_002900	P05451	REG1A_HUMAN			4	356	+			85			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.253G>C	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	g	13.44	2.238722	0.39598	.	.	ENSG00000115386	ENST00000233735	T	0.19806	2.12	3.51	1.57	0.23409	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.37178	N	0.002209	T	0.47210	0.1433	M	0.92833	3.35	0.09310	N	0.999998	D	0.71674	0.998	D	0.69479	0.964	T	0.34403	-0.9830	10	0.56958	D	0.05	.	6.1261	0.20180	0.0:0.2087:0.5762:0.2151	.	85	P05451	REG1A_HUMAN	P	85	ENSP00000233735:A85P	ENSP00000233735:A85P	A	+	1	0	REG1A	79202691	0.234000	0.23783	0.027000	0.17364	0.630000	0.37929	1.413000	0.34725	0.247000	0.21414	0.563000	0.77884	GCC		PASS	0.507	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		43	76	43	76	---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530771	80530771	+	Silent	SNP	G	G	C			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr2:80530771G>C	ENST00000295057.3	-	2	830	c.174C>G	c.(172-174)acC>acG	p.T58T	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.T58T|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	58	LRRNT.				exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.T58T(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGGGCGCCTCGGTGAGGTTGA	0.701										HNSCC(69;0.2)																												uc002sok.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(172-174)ACC>ACG		leucine rich repeat transmembrane neuronal 1							24.0	28.0	27.0					2																	80530771		2203	4299	6502	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530771G>C	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.174C>G	2.37:g.80530771G>C		HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.T58T	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	444	-			58			LRRNT.|Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.174C>G	CCDS1966.1																																																																																				PASS	0.701	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		11	49	11	49	---	---	---	---
DBI	1622	broad.mit.edu	37	2	120129848	120129848	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr2:120129848C>G	ENST00000355857.3	+	4	349	c.218C>G	c.(217-219)gCt>gGt	p.A73G	DBI_ENST00000409094.1_Missense_Mutation_p.A90G|DBI_ENST00000460901.1_3'UTR|DBI_ENST00000311521.4_Missense_Mutation_p.A90G|DBI_ENST00000393103.2_Missense_Mutation_p.A74G|DBI_ENST00000535757.1_Missense_Mutation_p.A90G|DBI_ENST00000542275.1_Missense_Mutation_p.A134G|DBI_ENST00000535617.1_Missense_Mutation_p.A115G	NM_001079862.1|NM_001178043.1	NP_001073331.1|NP_001171514.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	73	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				hair follicle development (GO:0001942)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|transport (GO:0006810)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear endoplasmic reticulum (GO:0097038)	benzodiazepine receptor binding (GO:0030156)|lipid binding (GO:0008289)|long-chain fatty acyl-CoA binding (GO:0036042)|protein dimerization activity (GO:0046983)	p.A90G(1)		kidney(1)|lung(4)|skin(1)	6						GCCATGAAAGCTTACATCAAC	0.448																																						uc002tlv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(217-219)GCT>GGT		diazepam binding inhibitor isoform 3							149.0	138.0	142.0					2																	120129848		2203	4300	6503	SO:0001583	missense	1622				transport		benzodiazepine receptor binding|fatty-acyl-CoA binding	g.chr2:120129848C>G	L76366	CCDS2126.1, CCDS42740.1, CCDS42741.1, CCDS74568.1	2q12-q21	2010-10-20	2010-04-30		ENSG00000155368	ENSG00000155368			2690	protein-coding gene	gene with protein product	"""endozepine"""	125950	"""diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)"""			1440058	Standard	NM_001079863		Approved	ACBP, ACBD1	uc021vnj.1	P07108	OTTHUMG00000131403	ENST00000355857.3:c.218C>G	2.37:g.120129848C>G	ENSP00000348116:p.Ala73Gly					DBI_uc010yyh.1_Missense_Mutation_p.A90G|DBI_uc010yyi.1_Missense_Mutation_p.A90G|DBI_uc010yyj.1_RNA|DBI_uc010yyk.1_Missense_Mutation_p.A115G|DBI_uc010yyl.1_Missense_Mutation_p.A90G|DBI_uc010yym.1_Missense_Mutation_p.A83G|DBI_uc010yyn.1_Missense_Mutation_p.A90G|DBI_uc002tlw.2_Missense_Mutation_p.A90G|DBI_uc010yyo.1_RNA|DBI_uc002tlx.2_Missense_Mutation_p.A74G	p.A73G	NM_001079862	NP_001073331	P07108	ACBP_HUMAN			4	342	+			73			ACB.		B8ZWD2|B8ZWD6|B8ZWD7|P08869|Q4VWZ6|Q53SQ7|Q6IB48|Q9UCI8	Missense_Mutation	SNP	ENST00000355857.3	37	c.218C>G	CCDS42740.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151851	0.78001	.	.	ENSG00000155368	ENST00000355857;ENST00000535617;ENST00000535757;ENST00000409094;ENST00000311521;ENST00000542275;ENST00000393103	T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91	5.54	5.54	0.83059	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (4);	0.224065	0.45361	D	0.000361	T	0.37919	0.1021	M	0.81179	2.53	0.48901	D	0.999729	B;P;P;B;B	0.43578	0.022;0.811;0.534;0.049;0.006	B;B;B;B;B	0.43838	0.111;0.433;0.281;0.111;0.049	T	0.22382	-1.0218	10	0.48119	T	0.1	-1.4319	14.8575	0.70351	0.0:1.0:0.0:0.0	.	83;115;74;90;73	B8ZWD1;B8ZWD7;P07108-3;B8ZWD2;P07108	.;.;.;.;ACBP_HUMAN	G	73;115;90;90;90;134;74	ENSP00000348116:A73G;ENSP00000442917:A115G;ENSP00000439012:A90G;ENSP00000386486:A90G;ENSP00000311117:A90G;ENSP00000440698:A134G;ENSP00000376815:A74G	ENSP00000311117:A90G	A	+	2	0	DBI	119846318	0.936000	0.31750	0.980000	0.43619	0.975000	0.68041	1.877000	0.39598	2.884000	0.98904	0.655000	0.94253	GCT		PASS	0.448	DBI-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330590.1	NM_020548		18	58	18	58	---	---	---	---
MYO7B	4648	broad.mit.edu	37	2	128394440	128394440	+	Silent	SNP	G	G	A	rs376669134		TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr2:128394440G>A	ENST00000409816.2	+	45	6233	c.6201G>A	c.(6199-6201)gcG>gcA	p.A2067A	LIMS2_ENST00000494613.1_5'Flank|MYO7B_ENST00000409090.1_Silent_p.A920A|MYO7B_ENST00000428314.1_Silent_p.A2067A|MYO7B_ENST00000389524.4_Silent_p.A2068A			Q6PIF6	MYO7B_HUMAN	myosin VIIB	2067	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A2067A(1)|p.A2311A(1)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCCACATGGCGCTGGGGAGCC	0.637																																						uc002top.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(6199-6201)GCG>GCA		myosin VIIB		G		1,4213		0,1,2106	55.0	67.0	63.0		6201	-10.2	0.0	2		63	0,8456		0,0,4228	no	coding-synonymous	MYO7B	NM_001080527.1		0,1,6334	AA,AG,GG		0.0,0.0237,0.0079		2067/2117	128394440	1,12669	2107	4228	6335	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128394440G>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.6201G>A	2.37:g.128394440G>A						MYO7B_uc002tos.1_Silent_p.A177A|MYO7B_uc002tot.2_Silent_p.A177A	p.A2067A	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	46	6254	+	Colorectal(110;0.1)		2067			FERM 2.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.6201G>A	CCDS46405.1																																																																																				PASS	0.637	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		9	50	9	50	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133531428	133531428	+	Missense_Mutation	SNP	C	C	A	rs150198489	byFrequency	TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr2:133531428C>A	ENST00000409261.1	-	16	5462	c.5089G>T	c.(5089-5091)Gat>Tat	p.D1697Y	NCKAP5_ENST00000473859.1_Intron|NCKAP5_ENST00000409213.1_Missense_Mutation_p.D378Y|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D1697Y|NCKAP5_ENST00000405974.3_Missense_Mutation_p.D378Y	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1697								p.D1697Y(1)|p.D217Y(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCAACTGCATCGTCTTCATCC	0.333																																						uc002ttp.2																			2	Substitution - Missense(2)		lung(2)		0						c.(5089-5091)GAT>TAT		Nck-associated protein 5 isoform 1							216.0	205.0	209.0					2																	133531428		1845	4102	5947	SO:0001583	missense	344148						protein binding	g.chr2:133531428C>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.5089G>T	2.37:g.133531428C>A	ENSP00000387128:p.Asp1697Tyr					NCKAP5_uc002ttq.2_Missense_Mutation_p.D378Y	p.D1697Y	NM_207363	NP_997246	O14513	NCKP5_HUMAN			16	5463	-			1697					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.5089G>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626348	0.46840	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.54479	2.58;0.57;2.58;0.57	5.4	3.61	0.41365	.	0.000000	0.32719	U	0.005728	T	0.58609	0.2134	L	0.32530	0.975	0.09310	N	1	D;D	0.89917	0.995;1.0	D;D	0.72982	0.911;0.979	T	0.50558	-0.8814	10	0.87932	D	0	.	10.0294	0.42092	0.0:0.8461:0.0:0.1539	.	378;1697	O14513-2;O14513	.;NCKP5_HUMAN	Y	1697;378;1697;378;378	ENSP00000387128:D1697Y;ENSP00000386952:D378Y;ENSP00000380603:D1697Y;ENSP00000385692:D378Y	ENSP00000380603:D1697Y	D	-	1	0	NCKAP5	133247898	0.902000	0.30710	0.019000	0.16419	0.796000	0.44982	2.997000	0.49457	0.837000	0.34925	0.655000	0.94253	GAT		PASS	0.333	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		22	90	22	90	---	---	---	---
TBR1	10716	broad.mit.edu	37	2	162276709	162276709	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr2:162276709T>G	ENST00000389554.3	+	5	1448	c.1131T>G	c.(1129-1131)atT>atG	p.I377M	TBR1_ENST00000410035.1_Missense_Mutation_p.I90M|AC009487.4_ENST00000437683.1_RNA|TBR1_ENST00000489530.1_3'UTR|AC009487.4_ENST00000444164.1_RNA	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	377					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I377M(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						TTTGCCAGATTACACAACTGA	0.358																																						uc002ubw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1129-1131)ATT>ATG		T-box, brain, 1							115.0	115.0	115.0					2																	162276709		2203	4300	6503	SO:0001583	missense	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162276709T>G	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.1131T>G	2.37:g.162276709T>G	ENSP00000374205:p.Ile377Met					TBR1_uc010foy.2_Missense_Mutation_p.I90M	p.I377M	NM_006593	NP_006584	Q16650	TBR1_HUMAN			5	1433	+			377			T-box.		B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	ENST00000389554.3	37	c.1131T>G	CCDS33310.1	.	.	.	.	.	.	.	.	.	.	T	14.96	2.690254	0.48097	.	.	ENSG00000136535	ENST00000389554;ENST00000539334;ENST00000411412;ENST00000410035	D;D;D	0.91068	-2.78;-2.78;-2.78	5.25	4.06	0.47325	p53-like transcription factor, DNA-binding (1);	0.109676	0.64402	D	0.000011	D	0.94578	0.8253	M	0.91510	3.215	0.54753	D	0.999982	D	0.65815	0.995	D	0.66716	0.946	D	0.92751	0.6216	10	0.87932	D	0	.	2.9359	0.05815	0.1922:0.1882:0.0:0.6196	.	377	Q16650	TBR1_HUMAN	M	377;90;112;90	ENSP00000374205:I377M;ENSP00000393934:I112M;ENSP00000387023:I90M	ENSP00000374205:I377M	I	+	3	3	TBR1	161984955	0.946000	0.32159	1.000000	0.80357	0.980000	0.70556	0.042000	0.13949	0.903000	0.36546	0.533000	0.62120	ATT		PASS	0.358	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		3	56	3	56	---	---	---	---
SLC38A11	151258	broad.mit.edu	37	2	165802148	165802148	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr2:165802148C>A	ENST00000409149.3	-	3	442	c.151G>T	c.(151-153)Ggg>Tgg	p.G51W	SLC38A11_ENST00000409058.1_Missense_Mutation_p.G82W|SLC38A11_ENST00000303735.4_Missense_Mutation_p.G51W|SLC38A11_ENST00000409662.1_Missense_Mutation_p.G51W	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	51					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.G51W(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						AGCAGATACCCTGGAAAGCCG	0.388																																						uc002ucv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(151-153)GGG>TGG		solute carrier family 38, member 11							103.0	109.0	107.0					2																	165802148		2203	4300	6503	SO:0001583	missense	151258				amino acid transport|sodium ion transport	integral to membrane		g.chr2:165802148C>A		CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"""Solute carriers"""	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.151G>T	2.37:g.165802148C>A	ENSP00000386272:p.Gly51Trp					SLC38A11_uc002ucu.1_Missense_Mutation_p.G51W|SLC38A11_uc002ucw.1_Missense_Mutation_p.G51W	p.G51W	NM_173512	NP_775783	Q08AI6	S38AB_HUMAN			5	688	-			51			Helical; (Potential).		B4DF99|Q8N887	Missense_Mutation	SNP	ENST00000409149.3	37	c.151G>T	CCDS56142.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064981	0.76187	.	.	ENSG00000169507	ENST00000303735;ENST00000409149;ENST00000409058;ENST00000409662	T;T;T;T	0.02606	4.23;4.23;4.23;4.23	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.23210	0.0561	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01195	-1.1422	10	0.87932	D	0	-9.1089	19.2296	0.93833	0.0:1.0:0.0:0.0	.	51;51	Q08AI6;Q08AI6-2	S38AB_HUMAN;.	W	51;51;82;51	ENSP00000306178:G51W;ENSP00000386272:G51W;ENSP00000387345:G82W;ENSP00000386774:G51W	ENSP00000306178:G51W	G	-	1	0	SLC38A11	165510394	1.000000	0.71417	0.993000	0.49108	0.498000	0.33706	6.872000	0.75536	2.835000	0.97688	0.650000	0.86243	GGG		PASS	0.388	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512		12	60	12	60	---	---	---	---
SCN7A	6332	broad.mit.edu	37	2	167328866	167328866	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr2:167328866T>A	ENST00000409855.1	-	5	659	c.533A>T	c.(532-534)gAt>gTt	p.D178V		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	178					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.D178V(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	GTTCCATGGATCACCGAGGAA	0.353																																						uc002udu.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(532-534)GAT>GTT		sodium channel, voltage-gated, type VII, alpha							50.0	49.0	50.0					2																	167328866		1892	4158	6050	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167328866T>A	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.533A>T	2.37:g.167328866T>A	ENSP00000386796:p.Asp178Val					SCN7A_uc010fpm.1_RNA	p.D178V	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			5	660	-			178						Missense_Mutation	SNP	ENST00000409855.1	37	c.533A>T	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.490223	0.84962	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98901	-5.22;-5.22;-5.22	5.37	5.37	0.77165	Ion transport (1);	0.000000	0.64402	D	0.000016	D	0.99217	0.9728	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99293	1.0899	10	0.56958	D	0.05	.	14.5113	0.67789	0.0:0.0:0.0:1.0	.	178	Q01118	SCN7A_HUMAN	V	178	ENSP00000386796:D178V;ENSP00000413699:D178V;ENSP00000403846:D178V	ENSP00000259060:D178V	D	-	2	0	SCN7A	167037112	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	7.440000	0.80464	2.161000	0.67846	0.533000	0.62120	GAT		PASS	0.353	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			3	7	3	7	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179422805	179422805	+	Silent	SNP	A	A	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr2:179422805A>G	ENST00000591111.1	-	278	82577	c.82353T>C	c.(82351-82353)aaT>aaC	p.N27451N	TTN_ENST00000342992.6_Silent_p.N26524N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.N29092N|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Silent_p.N20027N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.N20219N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.N20152N			Q8WZ42	TITIN_HUMAN	titin	27451					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)	p.N20152N(1)|p.N20027N(1)|p.N26522N(1)|p.N20219N(1)|p.N26524N(1)		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)			TAATTTCGGTATTAAATCTCA	0.428																																						uc010zfg.1																			5	Substitution - coding silent(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(79570-79572)AAT>AAC		titin isoform N2-A							102.0	98.0	99.0					2																	179422805		1883	4111	5994	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179422805A>G	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.82353T>C	2.37:g.179422805A>G						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.N20219N|TTN_uc010zfi.1_Silent_p.N20152N|TTN_uc010zfj.1_Silent_p.N20027N	p.N26524N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		277	79796	-			27451					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	Silent	SNP	ENST00000591111.1	37	c.79572T>C																																																																																					PASS	0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		29	66	29	66	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179455978	179455978	+	Silent	SNP	A	A	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr2:179455978A>T	ENST00000591111.1	-	254	55775	c.55551T>A	c.(55549-55551)ggT>ggA	p.G18517G	TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.G17590G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000589042.1_Silent_p.G20158G|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Silent_p.G11093G|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.G11285G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.G11218G			Q8WZ42	TITIN_HUMAN	titin	18517	Ig-like 106.				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)	p.G17588G(1)|p.G11093G(1)|p.G11285G(1)|p.G11218G(1)|p.G17590G(1)		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)			CTGTTTTGCTACCGGCTGCAT	0.418																																						uc010zfg.1																			5	Substitution - coding silent(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(52768-52770)GGT>GGA		titin isoform N2-A							230.0	234.0	233.0					2																	179455978		1914	4131	6045	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455978A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.55551T>A	2.37:g.179455978A>T						uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G11285G|TTN_uc010zfi.1_Silent_p.G11218G|TTN_uc010zfj.1_Silent_p.G11093G	p.G17590G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		253	52994	-			18517					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	Silent	SNP	ENST00000591111.1	37	c.52770T>A																																																																																					PASS	0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	245	11	245	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179611166	179611166	+	Intron	SNP	C	C	A	rs397517817		TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr2:179611166C>A	ENST00000591111.1	-	46	10585				TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.V5321F|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			AATTCTTTAACGTCTTTTTCA	0.363																																						uc002unb.2																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(15961-15963)GTT>TTT		titin isoform novex-3							64.0	58.0	60.0					2																	179611166		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611166C>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.10361-4518G>T	2.37:g.179611166C>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.V5321F	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	16185	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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.15961G>T		.	.	.	.	.	.	.	.	.	.	C	17.94	3.510930	0.64522	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.60548	0.18	5.88	5.88	0.94601	.	.	.	.	.	T	0.72317	0.3445	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69312	-0.5178	9	0.36615	T	0.2	.	14.3978	0.67022	0.0:0.9299:0.0:0.0701	.	5321	Q8WZ42-6	.	F	5321;602	ENSP00000354117:V5321F	ENSP00000304714:V602F	V	-	1	0	TTN	179319411	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.083000	0.71326	2.782000	0.95742	0.655000	0.94253	GTT		PASS	0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	39	11	39	---	---	---	---
NRP2	8828	broad.mit.edu	37	2	206631516	206631516	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr2:206631516C>A	ENST00000357785.5	+	15	2445	c.2414C>A	c.(2413-2415)tCg>tAg	p.S805*	NRP2_ENST00000485684.1_3'UTR|NRP2_ENST00000540178.1_Intron|NRP2_ENST00000272849.3_Nonsense_Mutation_p.S805*|NRP2_ENST00000412873.2_Nonsense_Mutation_p.S805*|NRP2_ENST00000360409.3_Nonsense_Mutation_p.S805*|NRP2_ENST00000357118.4_Nonsense_Mutation_p.S805*|AC007362.3_ENST00000423425.1_RNA|NRP2_ENST00000540841.1_Intron|AC007362.3_ENST00000596616.1_RNA|AC007362.3_ENST00000598710.1_RNA			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.S805*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GAACCCATCTCGGCTTTTGCA	0.333											OREG0015156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002vaw.2																			2	Substitution - Nonsense(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2413-2415)TCG>TAG		neuropilin 2 isoform 1 precursor							94.0	96.0	96.0					2																	206631516		2149	4288	6437	SO:0001587	stop_gained	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206631516C>A	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2414C>A	2.37:g.206631516C>A	ENSP00000350432:p.Ser805*		OREG0015156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2161	NRP2_uc002vau.2_Nonsense_Mutation_p.S805*|NRP2_uc002vav.2_Nonsense_Mutation_p.S805*|NRP2_uc002vax.2_Nonsense_Mutation_p.S805*|NRP2_uc002vay.2_Nonsense_Mutation_p.S805*	p.S805*	NM_201266	NP_957718	O60462	NRP2_HUMAN			15	3205	+			805			Extracellular (Potential).		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Nonsense_Mutation	SNP	ENST00000357785.5	37	c.2414C>A	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	47	13.290154	0.99732	.	.	ENSG00000118257	ENST00000360409;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	.	.	.	5.45	5.45	0.79879	.	0.403987	0.26492	N	0.024066	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4732	16.4443	0.83913	0.0:1.0:0.0:0.0	.	.	.	.	X	805	.	ENSP00000272849:S805X	S	+	2	0	NRP2	206339761	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.466000	0.60148	2.555000	0.86185	0.655000	0.94253	TCG		PASS	0.333	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			4	76	4	76	---	---	---	---
TTLL4	9654	broad.mit.edu	37	2	219614020	219614020	+	Missense_Mutation	SNP	G	G	T	rs138019885	byFrequency	TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr2:219614020G>T	ENST00000392102.1	+	14	2985	c.2645G>T	c.(2644-2646)cGg>cTg	p.R882L	TTLL4_ENST00000258398.4_Missense_Mutation_p.R882L|TTLL4_ENST00000442769.1_Missense_Mutation_p.R818L|TTLL4_ENST00000457313.1_Missense_Mutation_p.R717L	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	882	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)	p.R882L(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TATGTGCGACGGCCCTATAGC	0.522																																					GBM(172;1818 2053 15407 20943 49753)	uc002viy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2644-2646)CGG>CTG		tubulin tyrosine ligase-like family, member 4							161.0	133.0	142.0					2																	219614020		2203	4300	6503	SO:0001583	missense	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219614020G>T		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.2645G>T	2.37:g.219614020G>T	ENSP00000375951:p.Arg882Leu					TTLL4_uc010zkl.1_Missense_Mutation_p.R717L|TTLL4_uc010fvx.2_Missense_Mutation_p.R818L|TTLL4_uc010zkm.1_Missense_Mutation_p.R85L	p.R882L	NM_014640	NP_055455	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	14	3015	+		Renal(207;0.0915)	882			TTL.		A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	c.2645G>T	CCDS2422.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.69|17.69	3.452007|3.452007	0.63290|0.63290	.|.	.|.	ENSG00000135912|ENSG00000135912	ENST00000448224|ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	.|T;T;T;T	.|0.05580	.|3.42;3.42;3.42;3.42	5.91|5.91	4.13|4.13	0.48395|0.48395	.|.	.|0.460907	.|0.23476	.|N	.|0.047778	T|T	0.13884|0.13884	0.0336|0.0336	L|L	0.42632|0.42632	1.34|1.34	0.31264|0.31264	N|N	0.692597|0.692597	.|B;P;D;B	.|0.63880	.|0.21;0.595;0.993;0.292	.|B;B;P;B	.|0.58820	.|0.175;0.299;0.846;0.239	T|T	0.02004|0.02004	-1.1231|-1.1231	5|10	.|0.49607	.|T	.|0.09	.|.	11.9462|11.9462	0.52930|0.52930	0.1392:0.0:0.8608:0.0|0.1392:0.0:0.8608:0.0	.|.	.|85;717;818;882	.|B4DJF5;E9PH58;E7EX20;Q14679	.|.;.;.;TTLL4_HUMAN	C|L	173|717;882;818;882	.|ENSP00000393332:R717L;ENSP00000375951:R882L;ENSP00000396555:R818L;ENSP00000258398:R882L	.|ENSP00000258398:R882L	G|R	+|+	1|2	0|0	TTLL4|TTLL4	219322264|219322264	0.156000|0.156000	0.22821|0.22821	0.964000|0.964000	0.40570|0.40570	0.981000|0.981000	0.71138|0.71138	2.438000|2.438000	0.44837|0.44837	0.846000|0.846000	0.35142|0.35142	-0.150000|-0.150000	0.13652|0.13652	GGC|CGG		PASS	0.522	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		12	42	12	42	---	---	---	---
ATG9A	79065	broad.mit.edu	37	2	220089411	220089411	+	Silent	SNP	G	G	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr2:220089411G>A	ENST00000409618.1	-	8	1121	c.682C>T	c.(682-684)Ctg>Ttg	p.L228L	ATG9A_ENST00000361242.4_Silent_p.L228L|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000488833.1_5'Flank|ATG9A_ENST00000409422.1_Silent_p.L167L|ATG9A_ENST00000396761.2_Silent_p.L228L			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	228					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)		p.L228L(1)		endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGCAGAGGCAGGAGGGATTTG	0.557																																						uc002vke.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(682-684)CTG>TTG		APG9 autophagy 9-like 1							92.0	96.0	95.0					2																	220089411		2110	4235	6345	SO:0001819	synonymous_variant	79065				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane		g.chr2:220089411G>A	AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.682C>T	2.37:g.220089411G>A						ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Silent_p.L228L	p.L228L	NM_001077198	NP_001070666	Q7Z3C6	ATG9A_HUMAN		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	868	-		Renal(207;0.0474)	228			Cytoplasmic (By similarity).		Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Silent	SNP	ENST00000409618.1	37	c.682C>T	CCDS42820.1																																																																																				PASS	0.557	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085		15	57	15	57	---	---	---	---
CCR4	1233	broad.mit.edu	37	3	32994962	32994962	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr3:32994962C>A	ENST00000330953.5	+	2	216	c.48C>A	c.(46-48)taC>taA	p.Y16*		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	16					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)	p.Y16*(1)		NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						AAAGCATATACAGCAATTACT	0.488																																						uc003cfg.1																			1	Substitution - Nonsense(1)		lung(1)	lung(1)	1						c.(46-48)TAC>TAA		chemokine (C-C motif) receptor 4							114.0	106.0	108.0					3																	32994962		2203	4300	6503	SO:0001587	stop_gained	1233				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		g.chr3:32994962C>A	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.48C>A	3.37:g.32994962C>A	ENSP00000332659:p.Tyr16*						p.Y16*	NM_005508	NP_005499	P51679	CCR4_HUMAN			2	216	+			16			Extracellular (Potential).		Q9ULY6|Q9ULY7	Nonsense_Mutation	SNP	ENST00000330953.5	37	c.48C>A	CCDS2656.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.505939	0.64410	.	.	ENSG00000183813	ENST00000330953	.	.	.	5.22	-3.81	0.04294	.	1.527340	0.04364	N	0.357973	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6598	0.62361	0.0:0.6043:0.0:0.3957	.	.	.	.	X	16	.	ENSP00000332659:Y16X	Y	+	3	2	CCR4	32969966	0.000000	0.05858	0.015000	0.15790	0.742000	0.42306	-0.762000	0.04745	-0.744000	0.04778	-0.136000	0.14681	TAC		PASS	0.488	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2			15	24	15	24	---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38791575	38791575	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr3:38791575G>T	ENST00000449082.2	-	12	1855	c.1856C>A	c.(1855-1857)tCc>tAc	p.S619Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	619					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.S619Y(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CTCAAGGACGGAGGTTATGAT	0.458																																						uc003ciq.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(1855-1857)TCC>TAC		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						172.0	141.0	151.0					3																	38791575		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38791575G>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1856C>A	3.37:g.38791575G>T	ENSP00000390600:p.Ser619Tyr						p.S619Y	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	12	1856	-			619					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.1856C>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650171	0.47362	.	.	ENSG00000185313	ENST00000449082	D	0.96041	-3.89	5.47	5.47	0.80525	.	1.103130	0.06640	N	0.760898	D	0.97586	0.9209	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.93244	0.6629	10	0.87932	D	0	.	12.5815	0.56393	0.0:0.1795:0.8205:0.0	.	619	Q9Y5Y9	SCNAA_HUMAN	Y	619	ENSP00000390600:S619Y	ENSP00000390600:S619Y	S	-	2	0	SCN10A	38766579	0.996000	0.38824	0.969000	0.41365	0.467000	0.32768	2.621000	0.46418	2.847000	0.97988	0.655000	0.94253	TCC		PASS	0.458	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		9	16	9	16	---	---	---	---
XIRP1	165904	broad.mit.edu	37	3	39228203	39228203	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr3:39228203G>T	ENST00000340369.3	-	2	2962	c.2734C>A	c.(2734-2736)Ctg>Atg	p.L912M	XIRP1_ENST00000396251.1_Missense_Mutation_p.L912M|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	912					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.L912M(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CGGGGCTGCAGAGAGTAGGCA	0.622																																						uc003cjk.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(2734-2736)CTG>ATG		xin actin-binding repeat containing 1							34.0	33.0	33.0					3																	39228203		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39228203G>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.2734C>A	3.37:g.39228203G>T	ENSP00000343140:p.Leu912Met					XIRP1_uc003cji.2_Missense_Mutation_p.L912M|XIRP1_uc003cjj.2_Intron	p.L912M	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	2955	-			912					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.2734C>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.735723	0.30774	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.15718	2.4;2.67	5.03	4.15	0.48705	.	0.076329	0.53938	U	0.000045	T	0.35595	0.0937	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.08932	-1.0698	10	0.72032	D	0.01	.	7.6026	0.28085	0.0897:0.1653:0.745:0.0	.	912;912	Q702N8;Q702N8-2	XIRP1_HUMAN;.	M	912	ENSP00000379550:L912M;ENSP00000343140:L912M	ENSP00000343140:L912M	L	-	1	2	XIRP1	39203207	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	4.349000	0.59385	1.278000	0.44430	-0.150000	0.13652	CTG		PASS	0.622	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		12	22	12	22	---	---	---	---
LZTFL1	54585	broad.mit.edu	37	3	45879503	45879503	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr3:45879503A>T	ENST00000296135.6	-	2	218	c.44T>A	c.(43-45)aTt>aAt	p.I15N	LZTFL1_ENST00000536047.1_5'UTR|LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000490463.1_5'UTR	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	15					establishment of protein localization to organelle (GO:0072594)	BBSome (GO:0034464)|cytoplasm (GO:0005737)	identical protein binding (GO:0042802)	p.I15N(1)		endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		CATATAATTAATAACTTCATT	0.393																																						uc003cox.1																			1	Substitution - Missense(1)		lung(1)		0						c.(43-45)ATT>AAT		leucine zipper transcription factor-like 1							76.0	76.0	76.0					3																	45879503		2203	4300	6503	SO:0001583	missense	54585							g.chr3:45879503A>T	AJ297351	CCDS2731.1, CCDS63608.1, CCDS63609.1	3p21.3	2014-01-28			ENSG00000163818	ENSG00000163818			6741	protein-coding gene	gene with protein product		606568				11352561, 22510444	Standard	NM_020347		Approved	BBS17	uc003cox.2	Q9NQ48	OTTHUMG00000133452	ENST00000296135.6:c.44T>A	3.37:g.45879503A>T	ENSP00000296135:p.Ile15Asn					LZTFL1_uc003coy.1_5'UTR|LZTFL1_uc011bak.1_Intron	p.I15N	NM_020347	NP_065080	Q9NQ48	LZTL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)	2	182	-			15					B3KSI9|B4E0K7|Q8TC61|Q9NQ56	Missense_Mutation	SNP	ENST00000296135.6	37	c.44T>A	CCDS2731.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.830193	0.71258	.	.	ENSG00000163818	ENST00000296135	T	0.23147	1.92	5.63	5.63	0.86233	.	0.137133	0.64402	D	0.000006	T	0.33206	0.0855	M	0.70595	2.14	0.80722	D	1	P	0.35077	0.483	B	0.35470	0.203	T	0.18147	-1.0346	10	0.72032	D	0.01	-6.0892	15.8559	0.78977	1.0:0.0:0.0:0.0	.	15	Q9NQ48	LZTL1_HUMAN	N	15	ENSP00000296135:I15N	ENSP00000296135:I15N	I	-	2	0	LZTFL1	45854507	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	8.710000	0.91388	2.142000	0.66516	0.533000	0.62120	ATT		PASS	0.393	LZTFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257326.3	NM_020347		7	35	7	35	---	---	---	---
VPRBP	9730	broad.mit.edu	37	3	51475638	51475638	+	Intron	SNP	T	T	C			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr3:51475638T>C	ENST00000335891.5	-	6	682							Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein						B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)	p.G263G(1)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TTTTCTTTAATCCTCCATCCT	0.433																																						uc003dbe.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(787-789)GGA>GGG		HIV-1 Vpr binding protein							300.0	284.0	289.0					3																	51475638		1922	4130	6052	SO:0001627	intron_variant	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51475638T>C	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.672+116A>G	3.37:g.51475638T>C						VPRBP_uc003dbg.1_Silent_p.G263G	p.G263G	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	8	957	-			263					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Silent	SNP	ENST00000335891.5	37	c.789A>G																																																																																					PASS	0.433	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		63	85	63	85	---	---	---	---
DPPA4	55211	broad.mit.edu	37	3	109049395	109049395	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr3:109049395C>A	ENST00000335658.6	-	5	709	c.655G>T	c.(655-657)Gtg>Ttg	p.V219L	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	219					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.V219L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GGAGATTCCACTGCCTCTGGT	0.493																																						uc003dxq.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(655-657)GTG>TTG		developmental pluripotency associated 4							50.0	52.0	51.0					3																	109049395		2203	4300	6503	SO:0001583	missense	55211					nucleus	protein binding	g.chr3:109049395C>A	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.655G>T	3.37:g.109049395C>A	ENSP00000335306:p.Val219Leu					DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Missense_Mutation_p.V219L	p.V219L	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN			5	710	-			219					A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP	ENST00000335658.6	37	c.655G>T	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592780	0.46214	.	.	ENSG00000121570	ENST00000335658	T	0.40476	1.03	4.04	2.17	0.27698	.	0.313125	0.22906	N	0.054182	T	0.42063	0.1186	M	0.67953	2.075	0.09310	N	1	P;B	0.41978	0.767;0.275	B;B	0.42653	0.394;0.167	T	0.27054	-1.0085	9	.	.	.	-13.397	10.3443	0.43897	0.0:0.6114:0.3886:0.0	.	209;219	B7Z5Q7;Q7L190	.;DPPA4_HUMAN	L	219	ENSP00000335306:V219L	.	V	-	1	0	DPPA4	110532085	0.000000	0.05858	0.002000	0.10522	0.679000	0.39708	0.368000	0.20399	0.623000	0.30267	0.491000	0.48974	GTG		PASS	0.493	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		19	43	19	43	---	---	---	---
CCDC14	64770	broad.mit.edu	37	3	123663744	123663744	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr3:123663744A>T	ENST00000488653.2	-	9	1529	c.1439T>A	c.(1438-1440)aTa>aAa	p.I480K	CCDC14_ENST00000310351.4_Missense_Mutation_p.I320K|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_Missense_Mutation_p.I280K|CCDC14_ENST00000433542.2_Missense_Mutation_p.I439K|CCDC14_ENST00000485727.1_Missense_Mutation_p.I280K			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	480					substantia nigra development (GO:0021762)	centrosome (GO:0005813)		p.I320K(1)|p.I439K(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GGCCAGTGCTATCTCAACTTG	0.383																																						uc011bjx.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1438-1440)ATA>AAA		coiled-coil domain containing 14							160.0	129.0	139.0					3																	123663744		2203	4300	6503	SO:0001583	missense	64770					centrosome		g.chr3:123663744A>T	AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.1439T>A	3.37:g.123663744A>T	ENSP00000420180:p.Ile480Lys					CCDC14_uc003egv.3_Missense_Mutation_p.I121K|CCDC14_uc003egx.3_Missense_Mutation_p.I280K|CCDC14_uc010hrt.2_Missense_Mutation_p.I439K|CCDC14_uc003egy.3_Missense_Mutation_p.I280K|CCDC14_uc003egz.2_Missense_Mutation_p.I280K	p.I480K	NM_022757	NP_073594	Q49A88	CCD14_HUMAN		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)	9	1530	-		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)	480					B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	ENST00000488653.2	37	c.1439T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.30|13.30	2.195423|2.195423	0.38806|0.38806	.|.	.|.	ENSG00000175455|ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697;ENST00000419247|ENST00000479903	T;T;T;T;T;T;T|.	0.57436|.	0.4;0.4;0.4;0.4;0.4;0.4;0.4|.	5.35|5.35	4.17|4.17	0.49024|0.49024	.|.	0.079563|.	0.52532|.	D|.	0.000063|.	T|.	0.64951|.	0.2645|.	M|M	0.66939|0.66939	2.045|2.045	0.58432|0.58432	D|D	0.999999|0.999999	P;P;P;P|.	0.50272|.	0.873;0.873;0.933;0.713|.	B;B;P;B|.	0.50049|.	0.33;0.33;0.629;0.234|.	T|.	0.63651|.	-0.6589|.	10|.	0.39692|.	T|.	0.17|.	.|.	11.0846|11.0846	0.48080|0.48080	0.861:0.0:0.0:0.139|0.861:0.0:0.0:0.139	.|.	480;439;280;321|.	Q49A88;Q49A88-6;Q49A88-4;Q49A88-5|.	CCD14_HUMAN;.;.;.|.	K|K	480;320;280;280;439;461;121|62	ENSP00000420180:I480K;ENSP00000312031:I320K;ENSP00000418002:I280K;ENSP00000418403:I280K;ENSP00000395706:I439K;ENSP00000386866:I461K;ENSP00000400957:I121K|.	ENSP00000312031:I320K|.	I|X	-|-	2|1	0|0	CCDC14|CCDC14	125146434|125146434	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.004000|0.004000	0.04260|0.04260	6.156000|6.156000	0.71840|0.71840	1.129000|1.129000	0.42072|0.42072	-0.336000|-0.336000	0.08194|0.08194	ATA|TAG		PASS	0.383	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757		9	17	9	17	---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124438217	124438217	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr3:124438217G>A	ENST00000291478.5	+	27	3933	c.3770G>A	c.(3769-3771)cGc>cAc	p.R1257H	KALRN_ENST00000360013.3_Missense_Mutation_p.R2954H|KALRN_ENST00000428018.2_Missense_Mutation_p.R1225H	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2953					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R2954H(1)|p.R1257H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACACCTCCCGCCTAGCATGC	0.552																																						uc003ehg.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(8860-8862)CGC>CAC		kalirin, RhoGEF kinase isoform 1							53.0	55.0	54.0					3																	124438217		2198	4300	6498	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124438217G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.3770G>A	3.37:g.124438217G>A	ENSP00000291478:p.Arg1257His					KALRN_uc003ehk.2_Missense_Mutation_p.R1257H	p.R2954H	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			60	8988	+			2953					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.8861G>A	CCDS3028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.260946|4.260946	0.80246|0.80246	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000360013;ENST00000291478;ENST00000428018	.|T;T;T	.|0.39787	.|1.06;1.06;1.06	5.3|5.3	5.3|5.3	0.74995|0.74995	.|Protein kinase-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63838|0.63838	0.2545|0.2545	M|M	0.61703|0.61703	1.905|1.905	0.45541|0.45541	D|D	0.998495|0.998495	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.76071	.|0.987;0.987	T|T	0.64011|0.64011	-0.6507|-0.6507	5|10	.|0.59425	.|D	.|0.04	.|.	19.1434|19.1434	0.93455|0.93455	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1257;2953	.|C9JQ37;O60229	.|.;KALRN_HUMAN	T|H	2923|2954;1257;1225	.|ENSP00000353109:R2954H;ENSP00000291478:R1257H;ENSP00000402419:R1225H	.|ENSP00000291478:R1257H	A|R	+|+	1|2	0|0	KALRN|KALRN	125920907|125920907	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.657000|9.657000	0.98554|0.98554	2.756000|2.756000	0.94617|0.94617	0.563000|0.563000	0.77884|0.77884	GCC|CGC		PASS	0.552	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		14	33	14	33	---	---	---	---
HEG1	57493	broad.mit.edu	37	3	124746240	124746240	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr3:124746240C>T	ENST00000311127.4	-	3	789	c.722G>A	c.(721-723)gGg>gAg	p.G241E		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	241					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.G241E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TTCTGACAGCCCCATCGCCCT	0.547																																						uc003ehs.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(721-723)GGG>GAG		HEG homolog 1 precursor							66.0	67.0	66.0					3																	124746240		1989	4155	6144	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124746240C>T	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.722G>A	3.37:g.124746240C>T	ENSP00000311502:p.Gly241Glu					HEG1_uc011bke.1_Missense_Mutation_p.G241E	p.G241E	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN			3	790	-			241			Extracellular (Potential).		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.722G>A	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	C	5.392	0.257533	0.10239	.	.	ENSG00000173706	ENST00000311127	T	0.39787	1.06	4.66	-0.179	0.13299	.	.	.	.	.	T	0.21718	0.0523	N	0.17474	0.49	0.09310	N	1	B;B	0.17038	0.02;0.004	B;B	0.12156	0.007;0.003	T	0.27905	-1.0060	9	0.13853	T	0.58	.	7.076	0.25205	0.0:0.4223:0.0:0.5777	.	241;241	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	E	241	ENSP00000311502:G241E	ENSP00000311502:G241E	G	-	2	0	HEG1	126228930	0.000000	0.05858	0.001000	0.08648	0.044000	0.14063	-0.322000	0.08007	0.077000	0.16863	-0.145000	0.13849	GGG		PASS	0.547	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		6	19	6	19	---	---	---	---
ZXDC	79364	broad.mit.edu	37	3	126180940	126180940	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr3:126180940G>C	ENST00000389709.3	-	6	1618	c.1565C>G	c.(1564-1566)gCt>gGt	p.A522G	ZXDC_ENST00000336332.5_Missense_Mutation_p.A522G	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	522					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A522G(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		AGAACCACTAGCATTGGCAGG	0.547																																						uc003eiv.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1564-1566)GCT>GGT		ZXD family zinc finger C isoform 1							77.0	82.0	80.0					3																	126180940		2027	4204	6231	SO:0001583	missense	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126180940G>C	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.1565C>G	3.37:g.126180940G>C	ENSP00000374359:p.Ala522Gly					ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Missense_Mutation_p.A522G	p.A522G	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	6	1619	-			522					C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	ENST00000389709.3	37	c.1565C>G	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.233054	0.00277	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.10192	2.9;2.9	5.15	0.691	0.18045	.	1.358720	0.04618	N	0.401461	T	0.02807	0.0084	N	0.00583	-1.355	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38499	-0.9658	10	0.16420	T	0.52	0.2388	3.7118	0.08423	0.1438:0.4561:0.3041:0.096	.	522;522	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	G	522	ENSP00000374359:A522G;ENSP00000337694:A522G	ENSP00000337694:A522G	A	-	2	0	ZXDC	127663630	0.127000	0.22367	0.000000	0.03702	0.153000	0.21895	-0.316000	0.08071	-0.089000	0.12484	-0.340000	0.08031	GCT		PASS	0.547	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		32	54	32	54	---	---	---	---
ACPP	55	broad.mit.edu	37	3	132075647	132075647	+	Silent	SNP	T	T	C			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr3:132075647T>C	ENST00000336375.5	+	10	1176	c.1086T>C	c.(1084-1086)ccT>ccC	p.P362P	ACPP_ENST00000475741.1_Silent_p.P329P|ACPP_ENST00000351273.7_Silent_p.P362P	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	362					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)	p.P362P(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TGGTTGGCCCTGTGATCCCTC	0.537																																						uc010htp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1084-1086)CCT>CCC		acid phosphatase, prostate short isoform							160.0	136.0	144.0					3																	132075647		2203	4300	6503	SO:0001819	synonymous_variant	55					extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	g.chr3:132075647T>C		CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.1086T>C	3.37:g.132075647T>C						ACPP_uc003eon.3_Silent_p.P329P|ACPP_uc003eop.3_Silent_p.P362P	p.P362P	NM_001099	NP_001090	P15309	PPAP_HUMAN			10	1176	+			362					D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Silent	SNP	ENST00000336375.5	37	c.1086T>C	CCDS3073.1	.	.	.	.	.	.	.	.	.	.	T	11.49	1.653594	0.29425	.	.	ENSG00000014257	ENST00000507647	.	.	.	5.67	-2.78	0.05859	.	.	.	.	.	T	0.47967	0.1474	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37502	-0.9703	4	.	.	.	.	5.2091	0.15307	0.0:0.296:0.2729:0.431	.	.	.	.	P	47	.	.	L	+	2	0	ACPP	133558337	0.960000	0.32886	0.904000	0.35570	0.998000	0.95712	-0.200000	0.09478	-0.753000	0.04721	0.533000	0.62120	CTG		PASS	0.537	ACPP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356699.2	NM_001099		4	102	4	102	---	---	---	---
LRRIQ4	344657	broad.mit.edu	37	3	169540634	169540634	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr3:169540634G>T	ENST00000340806.6	+	1	925	c.925G>T	c.(925-927)Gac>Tac	p.D309Y		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	309								p.D309Y(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GCGCTTCCTGGACCTAAGCCA	0.572																																						uc003fgb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(925-927)GAC>TAC		leucine-rich repeats and IQ motif containing 4							41.0	42.0	42.0					3																	169540634		2026	4183	6209	SO:0001583	missense	344657							g.chr3:169540634G>T		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.925G>T	3.37:g.169540634G>T	ENSP00000342188:p.Asp309Tyr						p.D309Y	NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN			1	925	+			309			LRR 13.			Missense_Mutation	SNP	ENST00000340806.6	37	c.925G>T	CCDS46951.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789917	0.50102	.	.	ENSG00000188306	ENST00000340806	T	0.20881	2.04	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000002	T	0.37919	0.1021	L	0.42744	1.35	0.52501	D	0.99995	D	0.89917	1.0	D	0.79108	0.992	T	0.02901	-1.1096	10	0.11182	T	0.66	.	19.3962	0.94608	0.0:0.0:1.0:0.0	.	309	A6NIV6	LRIQ4_HUMAN	Y	309	ENSP00000342188:D309Y	ENSP00000342188:D309Y	D	+	1	0	LRRIQ4	171023328	1.000000	0.71417	0.998000	0.56505	0.075000	0.17131	4.148000	0.58085	2.679000	0.91253	0.561000	0.74099	GAC		PASS	0.572	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		7	21	7	21	---	---	---	---
GNB4	59345	broad.mit.edu	37	3	179123052	179123052	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr3:179123052C>A	ENST00000232564.3	-	9	1128	c.842G>T	c.(841-843)aGt>aTt	p.S281I	GNB4_ENST00000468623.1_Missense_Mutation_p.S281I|RP11-145M9.5_ENST00000608131.1_RNA	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	281					cell death (GO:0008219)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)	p.S281I(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			GAGACGCCCACTTTTTGAGAA	0.418																																					Melanoma(105;1405 1491 7265 20440 33721)	uc003fjv.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(841-843)AGT>ATT		guanine nucleotide-binding protein, beta-4							110.0	104.0	106.0					3																	179123052		2203	4300	6503	SO:0001583	missense	59345				cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity	g.chr3:179123052C>A	AF300648	CCDS3230.1	3q27.1	2013-01-10			ENSG00000114450	ENSG00000114450		"""WD repeat domain containing"""	20731	protein-coding gene	gene with protein product		610863				10644457, 11842130	Standard	NM_021629		Approved		uc003fjv.4	Q9HAV0	OTTHUMG00000157440	ENST00000232564.3:c.842G>T	3.37:g.179123052C>A	ENSP00000232564:p.Ser281Ile					GNB4_uc003fju.3_Intron	p.S281I	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)		9	1122	-	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		281			WD 6.		B3KMH5|D3DNR8	Missense_Mutation	SNP	ENST00000232564.3	37	c.842G>T	CCDS3230.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633941	0.87660	.	.	ENSG00000114450	ENST00000232564;ENST00000468623	T;T	0.01406	4.93;4.93	5.24	4.36	0.52297	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.072541	0.85682	D	0.000000	T	0.16257	0.0391	H	0.97340	3.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.35895	-0.9770	10	0.87932	D	0	-13.3451	16.1781	0.81884	0.0:0.8664:0.1336:0.0	.	281	Q9HAV0	GBB4_HUMAN	I	281	ENSP00000232564:S281I;ENSP00000419693:S281I	ENSP00000232564:S281I	S	-	2	0	GNB4	180605746	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.705000	0.84606	1.318000	0.45170	0.655000	0.94253	AGT		PASS	0.418	GNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258218.1	NM_021629		3	64	3	64	---	---	---	---
TTC14	151613	broad.mit.edu	37	3	180328311	180328311	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr3:180328311G>T	ENST00000296015.4	+	12	2426	c.2294G>T	c.(2293-2295)gGa>gTa	p.G765V	TTC14_ENST00000382584.4_Intron|TTC14_ENST00000412756.2_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	765							RNA binding (GO:0003723)	p.G765V(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AAAGAAAAAGGAAATAAGTCA	0.303																																						uc003fkk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2293-2295)GGA>GTA		tetratricopeptide repeat domain 14 isoform a							34.0	41.0	39.0					3																	180328311		2134	4257	6391	SO:0001583	missense	151613						RNA binding	g.chr3:180328311G>T	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.2294G>T	3.37:g.180328311G>T	ENSP00000296015:p.Gly765Val					TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Intron	p.G765V	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		12	2426	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		765					G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.2294G>T	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373300	0.82573	.	.	ENSG00000163728	ENST00000296015	T	0.14640	2.49	5.92	5.92	0.95590	.	0.386168	0.30134	N	0.010325	T	0.31040	0.0784	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01099	-1.1452	10	0.87932	D	0	-22.3931	20.3151	0.98650	0.0:0.0:1.0:0.0	.	765	Q96N46	TTC14_HUMAN	V	765	ENSP00000296015:G765V	ENSP00000296015:G765V	G	+	2	0	TTC14	181811005	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.303000	0.89955	2.809000	0.96659	0.467000	0.42956	GGA		PASS	0.303	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		17	36	17	36	---	---	---	---
POLN	353497	broad.mit.edu	37	4	2200252	2200252	+	Splice_Site	SNP	G	G	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr4:2200252G>A	ENST00000511885.2	-	6	1260	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Splice_Site_p.R303W			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	303					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.R303W(1)		kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			ATTTCTTACCGGGCAAATTGT	0.418								DNA polymerases (catalytic subunits)																														uc003ger.2																			1	Substitution - Missense(1)		lung(1)	kidney(2)|ovary(1)|skin(1)	4						c.(907-909)CGG>TGG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase nu							68.0	63.0	65.0					4																	2200252		2203	4300	6503	SO:0001630	splice_region_variant	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2200252G>A	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.908+1C>T	4.37:g.2200252G>A						POLN_uc010ich.1_5'UTR|POLN_uc011bvi.1_Missense_Mutation_p.R303W	p.R303W	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		4	907	-			303					A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	c.907C>T	CCDS3360.1	.	.	.	.	.	.	.	.	.	.	G	8.643	0.896488	0.17686	.	.	ENSG00000130997	ENST00000511885;ENST00000382865	T;T	0.21734	1.99;1.99	4.93	-0.495	0.12030	.	0.176051	0.45867	D	0.000333	T	0.13157	0.0319	M	0.66939	2.045	0.41569	D	0.988671	P;B	0.45212	0.853;0.327	B;B	0.31245	0.126;0.025	T	0.09509	-1.0671	10	0.49607	T	0.09	-8.0272	2.184	0.03881	0.147:0.0881:0.3317:0.4332	.	303;303	E7ERY2;Q7Z5Q5	.;DPOLN_HUMAN	W	303	ENSP00000435506:R303W;ENSP00000372316:R303W	ENSP00000372316:R303W	R	-	1	2	POLN	2170050	0.994000	0.37717	0.782000	0.31804	0.002000	0.02628	-0.032000	0.12266	-0.124000	0.11724	-0.262000	0.10625	CGG		PASS	0.418	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808	Missense_Mutation	14	88	14	88	---	---	---	---
EVC2	132884	broad.mit.edu	37	4	5630349	5630349	+	Missense_Mutation	SNP	C	C	T	rs145693546	byFrequency	TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr4:5630349C>T	ENST00000344408.5	-	12	1876	c.1823G>A	c.(1822-1824)cGt>cAt	p.R608H	EVC2_ENST00000344938.1_Missense_Mutation_p.R608H|EVC2_ENST00000310917.2_Missense_Mutation_p.R528H	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	608					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R608H(2)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GCCCTGCACACGGGTCTCTGA	0.507													C|||	2	0.000399361	0.0	0.0014	5008	,	,		15112	0.0		0.001	False		,,,				2504	0.0					uc003gij.2																			2	Substitution - Missense(2)		lung(1)|pancreas(1)	large_intestine(3)|ovary(2)	5						c.(1822-1824)CGT>CAT		limbin		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	117.0	107.0	110.0		1583,1823	4.0	0.9	4	dbSNP_134	110	18,8582	13.3+/-46.6	0,18,4282	yes	missense,missense	EVC2	NM_001166136.1,NM_147127.4	29,29	0,18,6485	TT,TC,CC		0.2093,0.0,0.1384	benign,benign	528/1229,608/1309	5630349	18,12988	2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5630349C>T	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1823G>A	4.37:g.5630349C>T	ENSP00000342144:p.Arg608His					EVC2_uc011bwb.1_Missense_Mutation_p.R48H|EVC2_uc003gik.2_Missense_Mutation_p.R528H	p.R608H	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			12	1877	-			608					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.1823G>A	CCDS3382.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.35	2.806076	0.50421	0.0	0.002093	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.77229	-1.08;-1.08;-1.08	4.89	4.03	0.46877	.	0.241588	0.35555	N	0.003133	T	0.69663	0.3136	M	0.65975	2.015	0.34074	D	0.65882	P	0.38565	0.637	B	0.32211	0.142	T	0.77616	-0.2521	10	0.39692	T	0.17	-15.3919	8.6899	0.34260	0.0:0.8367:0.0:0.1633	.	608	Q86UK5	LBN_HUMAN	H	608;528;608	ENSP00000339954:R608H;ENSP00000311683:R528H;ENSP00000342144:R608H	ENSP00000311683:R528H	R	-	2	0	EVC2	5681250	0.208000	0.23494	0.945000	0.38365	0.980000	0.70556	0.324000	0.19610	2.426000	0.82243	0.484000	0.47621	CGT		PASS	0.507	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		12	70	12	70	---	---	---	---
SEPSECS	51091	broad.mit.edu	37	4	25146715	25146715	+	Nonsense_Mutation	SNP	A	A	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr4:25146715A>T	ENST00000382103.2	-	7	917	c.845T>A	c.(844-846)tTg>tAg	p.L282*	SEPSECS_ENST00000302922.3_Nonsense_Mutation_p.L203*	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	282					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	pyridoxal phosphate binding (GO:0030170)|transferase activity, transferring selenium-containing groups (GO:0016785)|tRNA binding (GO:0000049)	p.L282*(1)|p.L203*(1)		endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)				ATTTTTGTCCAAGCTCTGAAC	0.353																																						uc003grg.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(844-846)TTG>TAG		Sep (O-phosphoserine) tRNA:Sec (selenocysteine)	Pyridoxal Phosphate(DB00114)						78.0	82.0	81.0					4																	25146715		2202	4300	6502	SO:0001587	stop_gained	51091				selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding	g.chr4:25146715A>T	AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618			30605	protein-coding gene	gene with protein product	"""soluble liver antigen/liver pancreas antigen"""	613009				16230358, 10931155, 17142313, 17194211	Standard	NM_016955		Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.845T>A	4.37:g.25146715A>T	ENSP00000371535:p.Leu282*					SEPSECS_uc003gri.2_Nonsense_Mutation_p.L281*|SEPSECS_uc003grh.2_Nonsense_Mutation_p.L203*	p.L282*	NM_153825	NP_722547	Q9HD40	SPCS_HUMAN			7	1058	-		Breast(46;0.173)	282					A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Nonsense_Mutation	SNP	ENST00000382103.2	37	c.845T>A	CCDS3432.2	.	.	.	.	.	.	.	.	.	.	A	39	7.889313	0.98545	.	.	ENSG00000109618	ENST00000302922;ENST00000382103	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-25.9729	14.9027	0.70692	1.0:0.0:0.0:0.0	.	.	.	.	X	203;282	.	ENSP00000305956:L203X	L	-	2	0	SEPSECS	24755813	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.481000	0.90437	1.923000	0.55706	0.528000	0.53228	TTG		PASS	0.353	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250414.2	NM_016955		36	43	36	43	---	---	---	---
TBC1D1	23216	broad.mit.edu	37	4	38047524	38047524	+	Splice_Site	SNP	A	A	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr4:38047524A>G	ENST00000261439.4	+	10	1984	c.1629A>G	c.(1627-1629)aaA>aaG	p.K543K	TBC1D1_ENST00000508802.1_Splice_Site_p.K543K	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	543					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)	p.K543K(1)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						ACACCAGCAAAGTAAGCACAT	0.418																																						uc003gtb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1627-1629)AAA>AAG		TBC1 (tre-2/USP6, BUB2, cdc16) domain family,							122.0	117.0	119.0					4																	38047524		2203	4300	6503	SO:0001630	splice_region_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38047524A>G	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.1629+1A>G	4.37:g.38047524A>G						TBC1D1_uc011byd.1_Silent_p.K543K|TBC1D1_uc010ifd.2_Silent_p.K290K|TBC1D1_uc011byf.1_Silent_p.K414K	p.K543K	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN			10	1972	+			543					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.1629A>G	CCDS33972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.06|14.06	2.422903|2.422903	0.43020|0.43020	.|.	.|.	ENSG00000065882|ENSG00000065882	ENST00000443855|ENST00000510573	T|.	0.49432|.	0.78|.	5.3|5.3	2.79|2.79	0.32731|0.32731	.|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.57695|0.57695	0.2071|0.2071	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.50338|0.50338	-0.8840|-0.8840	7|4	0.66056|.	D|.	0.02|.	-25.9986|-25.9986	8.4203|8.4203	0.32696|0.32696	0.7828:0.0:0.2172:0.0|0.7828:0.0:0.2172:0.0	.|.	.|.	.|.	.|.	R|G	35|191	ENSP00000397640:K35R|.	ENSP00000397640:K35R|.	K|R	+|+	2|1	0|2	TBC1D1|TBC1D1	37723919|37723919	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.355000|1.355000	0.34068|0.34068	0.391000|0.391000	0.25143|0.25143	0.482000|0.482000	0.46254|0.46254	AAG|AGA		PASS	0.418	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173	Silent	7	82	7	82	---	---	---	---
POLR2B	5431	broad.mit.edu	37	4	57873010	57873010	+	Missense_Mutation	SNP	C	C	T	rs373213737		TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr4:57873010C>T	ENST00000381227.1	+	11	1659	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W	POLR2B_ENST00000314595.5_Missense_Mutation_p.R416W|POLR2B_ENST00000431623.2_Missense_Mutation_p.R341W|POLR2B_ENST00000441246.2_Missense_Mutation_p.R409W			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	416					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)	p.R416W(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TAAAGAAGTGCGGATCTATGC	0.333																																						uc003hcl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1246-1248)CGG>TGG		DNA directed RNA polymerase II polypeptide B		C	TRP/ARG	1,4403	2.1+/-5.4	0,1,2201	72.0	79.0	77.0		1246	4.2	0.9	4		77	0,8600		0,0,4300	no	missense	POLR2B	NM_000938.1	101	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	416/1175	57873010	1,13003	2202	4300	6502	SO:0001583	missense	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57873010C>T		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1246C>T	4.37:g.57873010C>T	ENSP00000370625:p.Arg416Trp					POLR2B_uc011cae.1_Missense_Mutation_p.R409W|POLR2B_uc011caf.1_Missense_Mutation_p.R341W|POLR2B_uc003hcm.1_5'Flank	p.R416W	NM_000938	NP_000929	P30876	RPB2_HUMAN			10	1289	+	Glioma(25;0.08)|all_neural(26;0.181)		416					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.1246C>T	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633165	0.67015	2.27E-4	0.0	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.2	4.23	0.50019	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.86197	0.5875	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	D	0.87130	0.2196	10	0.66056	D	0.02	.	12.8973	0.58106	0.2432:0.7568:0.0:0.0	.	341;416	C9J4M6;P30876	.;RPB2_HUMAN	W	416;341;409;416	ENSP00000370625:R416W;ENSP00000391096:R341W;ENSP00000391452:R409W;ENSP00000312735:R416W	ENSP00000312735:R416W	R	+	1	2	POLR2B	57567767	0.261000	0.24063	0.859000	0.33776	0.986000	0.74619	0.876000	0.28092	2.600000	0.87896	0.655000	0.94253	CGG		PASS	0.333	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		11	87	11	87	---	---	---	---
AFP	174	broad.mit.edu	37	4	74306466	74306466	+	Missense_Mutation	SNP	C	C	G	rs371770284		TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr4:74306466C>G	ENST00000395792.2	+	4	518	c.418C>G	c.(418-420)Caa>Gaa	p.Q140E	AFP_ENST00000226359.2_Missense_Mutation_p.Q140E	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	140	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)	p.Q140E(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCCACTTTTCCAAGTTCCAGA	0.448									Alpha-Fetoprotein, Hereditary Persistence of																													uc003hgz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(418-420)CAA>GAA		alpha-fetoprotein precursor							71.0	69.0	70.0					4																	74306466		2203	4300	6503	SO:0001583	missense	174	Alpha-Fetoprotein_Hereditary_Persistence_of	Familial Cancer Database	HPAFP	transport		metal ion binding	g.chr4:74306466C>G	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.418C>G	4.37:g.74306466C>G	ENSP00000379138:p.Gln140Glu					AFP_uc003hha.1_Missense_Mutation_p.Q140E|AFP_uc011cbg.1_5'Flank	p.Q140E	NM_001134	NP_001125	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		4	465	+	Breast(15;0.00102)		140			Albumin 1.		B2RBU3	Missense_Mutation	SNP	ENST00000395792.2	37	c.418C>G	CCDS3556.1	.	.	.	.	.	.	.	.	.	.	C	4.004	-0.001890	0.07819	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	T;T	0.71934	-0.61;-0.61	5.2	5.2	0.72013	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.439253	0.23298	N	0.049708	T	0.61800	0.2376	L	0.55834	1.745	0.09310	N	1	P	0.38280	0.625	B	0.37508	0.252	T	0.57312	-0.7833	10	0.02654	T	1	.	14.1097	0.65113	0.0:1.0:0.0:0.0	.	140	P02771	FETA_HUMAN	E	140	ENSP00000379138:Q140E;ENSP00000226359:Q140E	ENSP00000226359:Q140E	Q	+	1	0	AFP	74525330	0.001000	0.12720	0.015000	0.15790	0.009000	0.06853	0.330000	0.19715	2.699000	0.92147	0.655000	0.94253	CAA		PASS	0.448	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3			9	19	9	19	---	---	---	---
SHROOM3	57619	broad.mit.edu	37	4	77661990	77661990	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr4:77661990C>G	ENST00000296043.6	+	5	3617	c.2664C>G	c.(2662-2664)agC>agG	p.S888R		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	888					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)		p.S887R(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCCTCCGTAGCCAGAGCACCT	0.721																																						uc011cbx.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2662-2664)AGC>AGG		shroom family member 3 protein							9.0	11.0	10.0					4																	77661990		2133	4196	6329	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77661990C>G	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2664C>G	4.37:g.77661990C>G	ENSP00000296043:p.Ser888Arg					SHROOM3_uc011cbz.1_Missense_Mutation_p.S712R|SHROOM3_uc003hkf.1_Missense_Mutation_p.S763R|SHROOM3_uc003hkg.2_Missense_Mutation_p.S666R	p.S888R	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	3617	+			888					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.2664C>G	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	c	19.76	3.887987	0.72410	.	.	ENSG00000138771	ENST00000296043	T	0.55588	0.51	5.25	5.25	0.73442	Apx/shroom, ASD1 (1);	2.940820	0.00966	N	0.003172	T	0.78470	0.4288	M	0.85630	2.765	0.39809	D	0.972673	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.62473	-0.6847	10	0.87932	D	0	-22.9984	10.1321	0.42685	0.0:0.8603:0.0:0.1397	.	712;888;666	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	R	888	ENSP00000296043:S888R	ENSP00000296043:S888R	S	+	3	2	SHROOM3	77881014	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	0.691000	0.25467	2.437000	0.82529	0.558000	0.71614	AGC		PASS	0.721	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		5	12	5	12	---	---	---	---
PLAC8	51316	broad.mit.edu	37	4	84028998	84028998	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr4:84028998C>A	ENST00000426923.2	-	2	155	c.77G>T	c.(76-78)tGg>tTg	p.W26L	PLAC8_ENST00000515389.1_Intron|PLAC8_ENST00000311507.4_Missense_Mutation_p.W26L|PLAC8_ENST00000509973.1_Intron|PLAC8_ENST00000505406.1_Missense_Mutation_p.W26L|PLAC8_ENST00000411416.2_Missense_Mutation_p.W26L	NM_001130715.1	NP_001124187.1	Q9UHV8	PP13_HUMAN	placenta-specific 8	14	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)	p.W26L(1)		large_intestine(2)|lung(3)|ovary(1)	6		Hepatocellular(203;0.114)				GCCTGTCTGCCAGTTGGAGTT	0.552																																						uc003hoe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(76-78)TGG>TTG		placenta-specific 8							45.0	43.0	43.0					4																	84028998		2203	4300	6503	SO:0001583	missense	51316							g.chr4:84028998C>A	AF208846	CCDS3601.1	4q21.22	2006-05-20			ENSG00000145287	ENSG00000145287			19254	protein-coding gene	gene with protein product		607515				12758124, 12384430	Standard	NM_016619		Approved	onzin, C15	uc003hoe.3	Q9NZF1	OTTHUMG00000130294	ENST00000426923.2:c.77G>T	4.37:g.84028998C>A	ENSP00000399700:p.Trp26Leu					PLAC8_uc011cco.1_Missense_Mutation_p.W26L|PLAC8_uc010ijy.2_Intron|PLAC8_uc010ijz.2_Intron|PLAC8_uc003hod.2_Missense_Mutation_p.W26L	p.W26L	NM_001130716	NP_001124188	Q9NZF1	PLAC8_HUMAN			2	238	-		Hepatocellular(203;0.114)	26					C5HZ15	Missense_Mutation	SNP	ENST00000426923.2	37	c.77G>T	CCDS3601.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172689	0.78452	.	.	ENSG00000145287	ENST00000311507;ENST00000411416;ENST00000505406;ENST00000426923	.	.	.	5.47	5.47	0.80525	.	0.125715	0.56097	D	0.000029	D	0.88351	0.6413	H	0.97265	3.97	0.45025	D	0.998048	D	0.89917	1.0	D	0.91635	0.999	D	0.92216	0.5780	9	0.87932	D	0	-44.4021	16.2306	0.82341	0.0:1.0:0.0:0.0	.	26	Q9NZF1	PLAC8_HUMAN	L	26	.	ENSP00000309509:W26L	W	-	2	0	PLAC8	84248022	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	4.299000	0.59073	2.541000	0.85698	0.591000	0.81541	TGG		PASS	0.552	PLAC8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363079.1	NM_016619		15	48	15	48	---	---	---	---
PDHA2	5161	broad.mit.edu	37	4	96761853	96761853	+	Silent	SNP	C	C	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr4:96761853C>T	ENST00000295266.4	+	1	615	c.552C>T	c.(550-552)aaC>aaT	p.N184N		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	184					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.N184N(3)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		ATAAAGGAAACGATGAGATCT	0.483																																						uc003htr.3																			3	Substitution - coding silent(3)		prostate(1)|large_intestine(1)|lung(1)	central_nervous_system(1)	1						c.(550-552)AAC>AAT		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						61.0	66.0	64.0					4																	96761853		2203	4300	6503	SO:0001819	synonymous_variant	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761853C>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.552C>T	4.37:g.96761853C>T							p.N184N	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	615	+		Hepatocellular(203;0.114)	184					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	ENST00000295266.4	37	c.552C>T	CCDS3644.1																																																																																				PASS	0.483	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			6	55	6	55	---	---	---	---
BANK1	55024	broad.mit.edu	37	4	102992450	102992450	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr4:102992450A>G	ENST00000322953.4	+	14	2505	c.2231A>G	c.(2230-2232)cAc>cGc	p.H744R	BANK1_ENST00000444316.2_Missense_Mutation_p.H714R|BANK1_ENST00000504592.1_Missense_Mutation_p.H729R|BANK1_ENST00000508653.1_Missense_Mutation_p.H611R|BANK1_ENST00000428908.1_Missense_Mutation_p.H611R	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	744					B cell activation (GO:0042113)			p.H744R(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		ACCATTGTGCACCATCCAGGT	0.294																																						uc003hvy.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2230-2232)CAC>CGC		B-cell scaffold protein with ankyrin repeats 1							147.0	156.0	153.0					4																	102992450		2203	4300	6503	SO:0001583	missense	55024				B cell activation			g.chr4:102992450A>G	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.2231A>G	4.37:g.102992450A>G	ENSP00000320509:p.His744Arg					BANK1_uc003hvx.3_Missense_Mutation_p.H729R|BANK1_uc010ill.2_Missense_Mutation_p.H611R|BANK1_uc003hvz.3_Missense_Mutation_p.H714R	p.H744R	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	14	2505	+		Hepatocellular(203;0.217)	744					A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	c.2231A>G	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.298830	0.60195	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.32272	2.17;2.13;1.46;1.46;2.17	4.51	4.51	0.55191	.	0.134465	0.47093	D	0.000250	T	0.38825	0.1055	L	0.36672	1.1	0.30944	N	0.725501	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.83275	0.986;0.996;0.996	T	0.16867	-1.0388	10	0.11182	T	0.66	.	10.372	0.44060	1.0:0.0:0.0:0.0	.	611;744;729	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	R	729;744;611;611;714	ENSP00000421443:H729R;ENSP00000320509:H744R;ENSP00000412748:H611R;ENSP00000422314:H611R;ENSP00000388817:H714R	ENSP00000320509:H744R	H	+	2	0	BANK1	103211473	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.708000	0.54845	2.027000	0.59764	0.477000	0.44152	CAC		PASS	0.294	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		48	95	48	95	---	---	---	---
COL25A1	84570	broad.mit.edu	37	4	109895698	109895698	+	Silent	SNP	T	T	C	rs550666487		TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr4:109895698T>C	ENST00000399132.1	-	7	986	c.456A>G	c.(454-456)aaA>aaG	p.K152K	COL25A1_ENST00000399126.1_Silent_p.K152K|COL25A1_ENST00000399127.1_Silent_p.K152K	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1									p.K152K(2)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCTTATCGCCTTTTGGACCAG	0.318																																						uc003hze.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(454-456)AAA>AAG		collagen, type XXV, alpha 1 isoform 1							135.0	131.0	132.0					4																	109895698		1811	4063	5874	SO:0001819	synonymous_variant	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109895698T>C	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.456A>G	4.37:g.109895698T>C						COL25A1_uc003hzg.2_Silent_p.K152K|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_5'UTR	p.K152K	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	6	987	-		Hepatocellular(203;0.217)	152			Extracellular (Potential).|Collagen-like 1.			Silent	SNP	ENST00000399132.1	37	c.456A>G	CCDS43258.1																																																																																				PASS	0.318	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		3	84	3	84	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114274838	114274838	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr4:114274838G>C	ENST00000357077.4	+	38	5117	c.5064G>C	c.(5062-5064)caG>caC	p.Q1688H	ANK2_ENST00000264366.6_Missense_Mutation_p.Q1655H|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1688					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.Q1688H(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATGAGACACAGAGTACACAGA	0.433																																						uc003ibe.3																			2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(5062-5064)CAG>CAC		ankyrin 2 isoform 1							60.0	64.0	63.0					4																	114274838		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114274838G>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5064G>C	4.37:g.114274838G>C	ENSP00000349588:p.Gln1688His					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.Q1703H	p.Q1688H	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5164	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1655					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.5064G>C	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	5.649	0.304467	0.10678	.	.	ENSG00000145362	ENST00000503423;ENST00000504454;ENST00000357077;ENST00000264366	T;T;T;T	0.68025	-0.03;-0.16;-0.3;-0.3	5.51	1.79	0.24919	.	1.081840	0.07168	N	0.851932	T	0.65450	0.2692	L	0.57536	1.79	0.09310	N	1	P;P	0.42993	0.694;0.797	B;P	0.48189	0.346;0.57	T	0.52177	-0.8610	10	0.45353	T	0.12	.	1.0193	0.01514	0.2959:0.1642:0.3886:0.1513	.	1655;1688	Q01484;Q01484-4	ANK2_HUMAN;.	H	1601;1703;1688;1655	ENSP00000421011:Q1601H;ENSP00000424722:Q1703H;ENSP00000349588:Q1688H;ENSP00000264366:Q1655H	ENSP00000264366:Q1655H	Q	+	3	2	ANK2	114494287	0.000000	0.05858	0.000000	0.03702	0.389000	0.30415	0.753000	0.26376	0.013000	0.14918	0.655000	0.94253	CAG		PASS	0.433	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		9	31	9	31	---	---	---	---
MFSD8	256471	broad.mit.edu	37	4	128851838	128851838	+	Splice_Site	SNP	T	T	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr4:128851838T>A	ENST00000296468.3	-	10	1125	c.998A>T	c.(997-999)aAg>aTg	p.K333M	MFSD8_ENST00000513559.1_Splice_Site_p.K288M|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	333					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)		p.K333M(1)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						CTTAACTTACTTTTTGGAAAG	0.313																																						uc003ifp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|liver(1)	2						c.(997-999)AAG>ATG		major facilitator superfamily domain containing							83.0	88.0	86.0					4																	128851838		2203	4297	6500	SO:0001630	splice_region_variant	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128851838T>A	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.998+1A>T	4.37:g.128851838T>A						MFSD8_uc011cgu.1_Missense_Mutation_p.K288M|MFSD8_uc011cgv.1_Missense_Mutation_p.K295I|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_3'UTR	p.K333M	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN			10	1161	-			333			Cytoplasmic (Potential).		B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	ENST00000296468.3	37	c.998A>T	CCDS3736.1	.	.	.	.	.	.	.	.	.	.	T	9.896	1.205630	0.22205	.	.	ENSG00000164073	ENST00000296468;ENST00000513559	T;T	0.64260	-0.09;-0.09	5.1	1.04	0.20106	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.287568	0.36893	N	0.002356	T	0.49321	0.1550	L	0.52126	1.63	0.80722	D	1	B	0.20671	0.047	B	0.31245	0.126	T	0.24941	-1.0146	9	.	.	.	-2.3642	2.5241	0.04687	0.1244:0.1336:0.1289:0.6132	.	333	Q8NHS3	MFSD8_HUMAN	M	333;288	ENSP00000296468:K333M;ENSP00000425000:K288M	.	K	-	2	0	MFSD8	129071288	1.000000	0.71417	0.997000	0.53966	0.293000	0.27360	0.877000	0.28106	0.357000	0.24183	0.460000	0.39030	AAG		PASS	0.313	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778	Missense_Mutation	15	93	15	93	---	---	---	---
F11	2160	broad.mit.edu	37	4	187201392	187201392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr4:187201392C>A	ENST00000403665.2	+	9	1233	c.881C>A	c.(880-882)tCa>tAa	p.S294*	F11_ENST00000264692.4_Nonsense_Mutation_p.S242*	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	294	Apple 4. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)	p.S294*(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TGCCATTCTTCATTTTACCAT	0.517																																						uc003iza.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(880-882)TCA>TAA		coagulation factor XI precursor	Coagulation Factor IX(DB00100)						167.0	166.0	166.0					4																	187201392		2203	4300	6503	SO:0001587	stop_gained	2160				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	g.chr4:187201392C>A	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"""plasma thromboplastin antecedent"""	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.881C>A	4.37:g.187201392C>A	ENSP00000384957:p.Ser294*						p.S294*	NM_000128	NP_000119	P03951	FA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	9	1214	+		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)	294			Apple 4.		D3DP64|Q4W5C2|Q9Y495	Nonsense_Mutation	SNP	ENST00000403665.2	37	c.881C>A	CCDS3847.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.32|16.32	3.090492|3.090492	0.55968|0.55968	.|.	.|.	ENSG00000088926|ENSG00000088926	ENST00000452239|ENST00000403665;ENST00000264692	.|.	.|.	.|.	5.74|5.74	4.0|4.0	0.46444|0.46444	.|.	.|0.844761	.|0.10594	.|N	.|0.656381	T|.	0.18130|.	0.0435|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.27054|.	-1.0085|.	3|.	.|0.05833	.|T	.|0.94	.|.	6.6976|6.6976	0.23207|0.23207	0.1136:0.5935:0.2238:0.0691|0.1136:0.5935:0.2238:0.0691	.|.	.|.	.|.	.|.	N|X	110|294;242	.|.	.|ENSP00000264692:S242X	H|S	+|+	1|2	0|0	F11|F11	187438386|187438386	0.016000|0.016000	0.18221|0.18221	0.012000|0.012000	0.15200|0.15200	0.547000|0.547000	0.35210|0.35210	1.413000|1.413000	0.34725|0.34725	0.872000|0.872000	0.35775|0.35775	0.650000|0.650000	0.86243|0.86243	CAT|TCA		PASS	0.517	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4			34	88	34	88	---	---	---	---
AHRR	57491	broad.mit.edu	37	5	376726	376726	+	Splice_Site	SNP	C	C	A	rs572863304		TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr5:376726C>A	ENST00000505113.1	+	4	302	c.258C>A	c.(256-258)gtC>gtA	p.V86V	AHRR_ENST00000512529.1_Intron|AHRR_ENST00000316418.5_Splice_Site_p.V86V	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	86					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.V82V(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CTCTGACAGTCGTGCAGGAGC	0.622																																						uc003jav.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)	2						c.(256-258)GTC>GTA		arylhydrocarbon receptor repressor							20.0	25.0	23.0					5																	376726		2021	4182	6203	SO:0001630	splice_region_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:376726C>A	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.257-1C>A	5.37:g.376726C>A						AHRR_uc003jaw.2_Silent_p.V82V|AHRR_uc010isy.2_Intron|AHRR_uc010isz.2_Silent_p.V82V	p.V86V	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		4	302	+			86					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	c.258C>A	CCDS56355.1																																																																																				PASS	0.622	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731	Silent	8	8	8	8	---	---	---	---
MARCH6	10299	broad.mit.edu	37	5	10410360	10410360	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr5:10410360G>T	ENST00000274140.5	+	18	1795	c.1663G>T	c.(1663-1665)Gcg>Tcg	p.A555S	MARCH6_ENST00000503788.1_Missense_Mutation_p.A450S|MARCH6_ENST00000510792.1_Missense_Mutation_p.A253S|MARCH6_ENST00000449913.2_Missense_Mutation_p.A507S	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	555					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A555S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						GCTGGTGCGAGCGTGGACTGT	0.527																																						uc003jet.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1663-1665)GCG>TCG		membrane-associated ring finger (C3HC4) 6							111.0	97.0	101.0					5																	10410360		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10410360G>T	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1663G>T	5.37:g.10410360G>T	ENSP00000274140:p.Ala555Ser					MARCH6_uc011cmu.1_Missense_Mutation_p.A507S|MARCH6_uc003jeu.1_Missense_Mutation_p.A253S|MARCH6_uc011cmv.1_Missense_Mutation_p.A450S	p.A555S	NM_005885	NP_005876	O60337	MARH6_HUMAN			18	1846	+			555			Cytoplasmic (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.1663G>T	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900437	0.72754	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.52677	0.1749	L	0.50333	1.59	0.80722	D	1	P;P;P;P	0.52316	0.726;0.555;0.952;0.555	B;B;P;B	0.49085	0.231;0.088;0.6;0.088	T	0.41395	-0.9511	10	0.23302	T	0.38	-21.018	19.5372	0.95257	0.0:0.0:1.0:0.0	.	450;507;135;555	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	S	507;450;555;253	ENSP00000414643:A507S;ENSP00000425930:A450S;ENSP00000274140:A555S;ENSP00000424512:A253S	ENSP00000274140:A555S	A	+	1	0	MARCH6	10463360	1.000000	0.71417	0.966000	0.40874	0.732000	0.41865	9.465000	0.97660	2.609000	0.88269	0.563000	0.77884	GCG		PASS	0.527	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		29	55	29	55	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82849313	82849313	+	Silent	SNP	G	G	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr5:82849313G>A	ENST00000265077.3	+	11	10189	c.9624G>A	c.(9622-9624)ctG>ctA	p.L3208L	VCAN_ENST00000512590.2_Silent_p.L1406L|VCAN_ENST00000343200.5_Silent_p.L2221L|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Silent_p.L467L|VCAN_ENST00000342785.4_Silent_p.L1454L|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3208	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.L3208L(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CAAGCATCCTGTCTCACGAAG	0.458																																						uc003kii.3																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(9622-9624)CTG>CTA		versican isoform 1 precursor							140.0	120.0	126.0					5																	82849313		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82849313G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9624G>A	5.37:g.82849313G>A						VCAN_uc003kij.3_Silent_p.L2221L|VCAN_uc010jau.2_Silent_p.L1454L|VCAN_uc003kik.3_Silent_p.L467L|VCAN_uc003kil.3_Silent_p.L1872L	p.L3208L	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	11	9980	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	3208			C-type lectin.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.9624G>A	CCDS4060.1																																																																																				PASS	0.458	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		24	38	24	38	---	---	---	---
PCDHB6	56130	broad.mit.edu	37	5	140531822	140531822	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr5:140531822G>T	ENST00000231136.1	+	1	1984	c.1984G>T	c.(1984-1986)Gac>Tac	p.D662Y	PCDHB6_ENST00000543635.1_Missense_Mutation_p.D526Y	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	662	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D662Y(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCTGGTGGACGGCTTCTC	0.692																																						uc003lir.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1984-1986)GAC>TAC		protocadherin beta 6 precursor							33.0	37.0	35.0					5																	140531822		1968	3922	5890	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531822G>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1984G>T	5.37:g.140531822G>T	ENSP00000231136:p.Asp662Tyr					PCDHB6_uc011dah.1_Missense_Mutation_p.D526Y	p.D662Y	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1984	+			662			Cadherin 6.|Extracellular (Potential).		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1984G>T	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.581617	0.65992	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.74632	-0.86;-0.86	4.45	4.45	0.53987	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.90947	0.7154	H	0.98866	4.355	0.45594	D	0.998533	D	0.89917	1.0	D	0.72338	0.977	D	0.93533	0.6871	9	0.87932	D	0	.	12.0799	0.53665	0.0878:0.0:0.9122:0.0	.	662	Q9Y5E3	PCDB6_HUMAN	Y	526;662	ENSP00000438466:D526Y;ENSP00000231136:D662Y	ENSP00000231136:D662Y	D	+	1	0	PCDHB6	140512006	0.993000	0.37304	1.000000	0.80357	0.910000	0.53928	2.292000	0.43549	2.187000	0.69744	0.556000	0.70494	GAC		PASS	0.692	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		28	35	28	35	---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169483700	169483700	+	Silent	SNP	C	C	A	rs141164963		TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr5:169483700C>A	ENST00000256935.8	+	43	4388	c.4308C>A	c.(4306-4308)tcC>tcA	p.S1436S	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.S497S|DOCK2_ENST00000520908.1_Silent_p.S928S	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1436	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.S1436S(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTACAAATCCAACTACGTGC	0.557																																						uc003maf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(4306-4308)TCC>TCA		dedicator of cytokinesis 2							102.0	93.0	96.0					5																	169483700		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169483700C>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4308C>A	5.37:g.169483700C>A						DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.S928S|DOCK2_uc003mah.2_5'UTR	p.S1436S	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		43	4388	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1436			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.4308C>A	CCDS4371.1																																																																																				PASS	0.557	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		10	9	10	9	---	---	---	---
OR10C1	442194	broad.mit.edu	37	6	29407984	29407984	+	Silent	SNP	C	C	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr6:29407984C>A	ENST00000444197.2	+	1	902	c.192C>A	c.(190-192)acC>acA	p.T64T	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T64T(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCCTGCGCACCCTCTCGGCCT	0.577																																						uc011dlp.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(190-192)ACC>ACA		olfactory receptor, family 10, subfamily C,							187.0	161.0	170.0					6																	29407984		1511	2708	4219	SO:0001819	synonymous_variant	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29407984C>A		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.192C>A	6.37:g.29407984C>A						OR11A1_uc010jrh.1_Intron	p.T64T	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN			1	192	+			64			Helical; Name=2; (Potential).		Q5SUN7|Q96R18	Silent	SNP	ENST00000444197.2	37	c.192C>A	CCDS34364.1																																																																																				PASS	0.577	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			16	42	16	42	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87969574	87969574	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr6:87969574A>T	ENST00000369577.3	+	8	6270	c.6227A>T	c.(6226-6228)cAa>cTa	p.Q2076L	ZNF292_ENST00000339907.4_Missense_Mutation_p.Q2071L	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2076						nucleus (GO:0005634)	DNA binding (GO:0003677)|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)	p.Q2076L(1)|p.Q1931L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ACAAACACACAAACCAAAGGA	0.358																																						uc003plm.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(6226-6228)CAA>CTA		zinc finger protein 292							53.0	51.0	52.0					6																	87969574		1833	4081	5914	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87969574A>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6227A>T	6.37:g.87969574A>T	ENSP00000358590:p.Gln2076Leu						p.Q2076L	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	6268	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2076					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.6227A>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	A	9.967	1.224420	0.22457	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.07216	3.21;3.22	5.77	4.59	0.56863	.	0.775083	0.12575	N	0.456940	T	0.02083	0.0065	L	0.34521	1.04	0.09310	N	1	B	0.31125	0.309	B	0.24541	0.054	T	0.44251	-0.9340	10	0.39692	T	0.17	.	7.7764	0.29039	0.7892:0.1392:0.0717:0.0	.	2076	O60281	ZN292_HUMAN	L	2076;2071	ENSP00000358590:Q2076L;ENSP00000342847:Q2071L	ENSP00000342847:Q2071L	Q	+	2	0	ZNF292	88026293	0.080000	0.21391	0.878000	0.34440	0.535000	0.34838	2.967000	0.49216	0.999000	0.39023	0.533000	0.62120	CAA		PASS	0.358	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		7	13	7	13	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90354761	90354761	+	Silent	SNP	A	A	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr6:90354761A>G	ENST00000369393.3	-	101	16690	c.16575T>C	c.(16573-16575)ttT>ttC	p.F5525F	MDN1_ENST00000428876.1_Silent_p.F5525F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5525	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)	p.F5525F(1)		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)		CCAATACAACAAAGATGACAA	0.473																																						uc003pnn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|skin(2)	10						c.(16573-16575)TTT>TTC		MDN1, midasin homolog							86.0	87.0	87.0					6																	90354761		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90354761A>G	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.16575T>C	6.37:g.90354761A>G							p.F5525F	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	101	16691	-		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)	5525			VWFA.		O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.16575T>C	CCDS5024.1																																																																																				PASS	0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			18	32	18	32	---	---	---	---
FUT9	10690	broad.mit.edu	37	6	96651407	96651407	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr6:96651407C>A	ENST00000302103.5	+	3	702	c.376C>A	c.(376-378)Cca>Aca	p.P126T		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	126					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.P126T(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GCAAGCTAGGCCACCCTTCCA	0.463																																					Melanoma(98;1369 1476 6592 22940 26587)	uc003pop.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)	5						c.(376-378)CCA>ACA		fucosyltransferase 9 (alpha (1,3)							107.0	96.0	100.0					6																	96651407		2203	4300	6503	SO:0001583	missense	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651407C>A	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.376C>A	6.37:g.96651407C>A	ENSP00000302599:p.Pro126Thr						p.P126T	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	717	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	126			Lumenal (Potential).		Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	c.376C>A	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601634	0.66445	.	.	ENSG00000172461	ENST00000302103	T	0.25250	1.81	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.46151	0.1378	M	0.77616	2.38	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.36286	-0.9754	10	0.44086	T	0.13	-10.212	18.3049	0.90177	0.0:1.0:0.0:0.0	.	126	Q9Y231	FUT9_HUMAN	T	126	ENSP00000302599:P126T	ENSP00000302599:P126T	P	+	1	0	FUT9	96758128	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.643000	0.89663	0.655000	0.94253	CCA		PASS	0.463	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		7	19	7	19	---	---	---	---
RFX6	222546	broad.mit.edu	37	6	117246809	117246809	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr6:117246809C>A	ENST00000332958.2	+	16	1888	c.1872C>A	c.(1870-1872)aaC>aaA	p.N624K		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	624					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.N624K(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ACACAGACAACATGCCGCTCA	0.512																																						uc003pxm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1870-1872)AAC>AAA		regulatory factor X, 6							62.0	55.0	57.0					6																	117246809		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117246809C>A	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1872C>A	6.37:g.117246809C>A	ENSP00000332208:p.Asn624Lys						p.N624K	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			16	1935	+			624					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.1872C>A	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.661819	0.29515	.	.	ENSG00000185002	ENST00000332958	T	0.55052	0.54	5.95	-1.69	0.08186	.	1.154220	0.05881	N	0.626499	T	0.16557	0.0398	L	0.47716	1.5	0.18873	N	0.999988	B	0.21688	0.059	B	0.16289	0.015	T	0.10800	-1.0614	10	0.27082	T	0.32	-1.7224	0.3245	0.00308	0.2703:0.2454:0.1348:0.3494	.	624	Q8HWS3	RFX6_HUMAN	K	624	ENSP00000332208:N624K	ENSP00000332208:N624K	N	+	3	2	RFX6	117353502	0.003000	0.15002	0.006000	0.13384	0.596000	0.36781	0.015000	0.13355	-0.137000	0.11455	0.491000	0.48974	AAC		PASS	0.512	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		18	20	18	20	---	---	---	---
HDAC9	9734	broad.mit.edu	37	7	18788681	18788681	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr7:18788681A>T	ENST00000432645.2	+	13	1954	c.1954A>T	c.(1954-1956)Acc>Tcc	p.T652S	HDAC9_ENST00000441542.2_Missense_Mutation_p.T655S|HDAC9_ENST00000401921.1_Missense_Mutation_p.T611S|HDAC9_ENST00000406451.4_Missense_Mutation_p.T652S	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	652	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.T655S(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGGCAATTCCACCACCCACCC	0.453																																						uc003suh.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|central_nervous_system(2)|kidney(1)	5						c.(1954-1956)ACC>TCC		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						88.0	86.0	87.0					7																	18788681		1939	4163	6102	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18788681A>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1954A>T	7.37:g.18788681A>T	ENSP00000410337:p.Thr652Ser					HDAC9_uc003sue.2_Missense_Mutation_p.T652S|HDAC9_uc011jyd.1_Missense_Mutation_p.T652S|HDAC9_uc003sui.2_Missense_Mutation_p.T655S|HDAC9_uc003suj.2_Missense_Mutation_p.T611S|HDAC9_uc003sua.1_Missense_Mutation_p.T630S|HDAC9_uc010kue.1_Missense_Mutation_p.T307S	p.T652S	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			13	1995	+	all_lung(11;0.187)		652			Histone deacetylase.		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.1954A>T	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	A	2.959	-0.215127	0.06101	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.3	4.14	0.48551	Histone deacetylase domain (2);	0.105457	0.42964	D	0.000634	T	0.30166	0.0756	N	0.01048	-1.04	0.80722	D	1	B;B;B;B;B;B;B	0.16802	0.0;0.019;0.005;0.005;0.001;0.005;0.006	B;B;B;B;B;B;B	0.12837	0.003;0.007;0.005;0.005;0.006;0.005;0.008	T	0.42103	-0.9471	10	0.02654	T	1	-21.7557	10.5729	0.45211	0.8733:0.0:0.1267:0.0	.	652;564;611;655;652;652;630	Q9UKV0-4;Q9UKV0-2;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;.;HDAC9_HUMAN;.;.	S	652;611;652;655;564	ENSP00000384657:T652S;ENSP00000383912:T611S;ENSP00000410337:T652S;ENSP00000408617:T655S	ENSP00000339165:T564S	T	+	1	0	HDAC9	18755206	0.881000	0.30235	1.000000	0.80357	0.983000	0.72400	1.284000	0.33249	2.225000	0.72522	0.460000	0.39030	ACC		PASS	0.453	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			7	14	7	14	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82763820	82763820	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr7:82763820G>A	ENST00000333891.9	-	3	3383	c.3046C>T	c.(3046-3048)Cca>Tca	p.P1016S	PCLO_ENST00000423517.2_Missense_Mutation_p.P1016S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.P1016S(2)|p.P962S(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTACTGTTGGAGCTTGTTCA	0.428																																						uc003uhx.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(3046-3048)CCA>TCA		piccolo isoform 1							85.0	82.0	83.0					7																	82763820		1833	4089	5922	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82763820G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3046C>T	7.37:g.82763820G>A	ENSP00000334319:p.Pro1016Ser					PCLO_uc003uhv.2_Missense_Mutation_p.P1016S	p.P1016S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			3	3335	-			962			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.3046C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	6.153	0.396521	0.11638	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.75938	-0.98;-0.98	6.07	0.711	0.18162	.	.	.	.	.	T	0.53802	0.1819	N	0.22421	0.69	0.19575	N	0.999966	B;B	0.09022	0.001;0.002	B;B	0.08055	0.003;0.003	T	0.48625	-0.9019	9	0.87932	D	0	.	0.1417	0.00084	0.3332:0.1559:0.2322:0.2787	.	1016;1016	Q9Y6V0-5;Q9Y6V0-6	.;.	S	962;1016;1016	ENSP00000334319:P1016S;ENSP00000388393:P1016S	ENSP00000334319:P1016S	P	-	1	0	PCLO	82601756	0.006000	0.16342	0.013000	0.15412	0.856000	0.48823	0.008000	0.13197	0.400000	0.25396	0.655000	0.94253	CCA		PASS	0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		7	43	7	43	---	---	---	---
TFPI2	7980	broad.mit.edu	37	7	93516731	93516731	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr7:93516731C>T	ENST00000222543.5	-	4	785	c.473G>A	c.(472-474)tGc>tAc	p.C158Y	GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Intron	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	158	BPTI/Kunitz inhibitor 3. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.C158Y(1)		endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TGGACTGTAGCAAAATGATGG	0.328																																						uc003umy.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(472-474)TGC>TAC		tissue factor pathway inhibitor 2 precursor							55.0	55.0	55.0					7																	93516731		2203	4300	6503	SO:0001583	missense	7980				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	g.chr7:93516731C>T	L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.473G>A	7.37:g.93516731C>T	ENSP00000222543:p.Cys158Tyr					GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Intron|TFPI2_uc003una.1_Missense_Mutation_p.C147Y|TFPI2_uc003unb.1_Missense_Mutation_p.C164Y|TFPI2_uc010lfg.1_Missense_Mutation_p.C34Y	p.C158Y	NM_006528	NP_006519	P48307	TFPI2_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		4	548	-	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		158			BPTI/Kunitz inhibitor 3.		Q66ME8|Q8NAK6|Q9UC86	Missense_Mutation	SNP	ENST00000222543.5	37	c.473G>A	CCDS5632.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.438196	0.62955	.	.	ENSG00000105825	ENST00000222543	D	0.96745	-4.11	5.37	5.37	0.77165	Proteinase inhibitor I2, Kunitz metazoa (5);	0.000000	0.85682	D	0.000000	D	0.99111	0.9694	H	0.99197	4.465	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	0.98886	1.0771	10	0.87932	D	0	.	19.1185	0.93351	0.0:1.0:0.0:0.0	.	90;147;158	Q8NE89;Q8NAK6;P48307	.;.;TFPI2_HUMAN	Y	158	ENSP00000222543:C158Y	ENSP00000222543:C158Y	C	-	2	0	TFPI2	93354667	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	5.620000	0.67736	2.692000	0.91855	0.655000	0.94253	TGC		PASS	0.328	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2	NM_006528		16	61	16	61	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100389747	100389747	+	RNA	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr7:100389747G>T	ENST00000348028.3	+	0	7853				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T2562T(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTCACCAGACGGTGGCCCCAG	0.652																																						uc003uwj.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(7687-7689)ACG>ACT		zonadhesin isoform 3							22.0	25.0	24.0					7																	100389747		1993	4165	6158			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100389747G>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100389747G>T						ZAN_uc003uwk.2_Silent_p.T2563T|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.R556L	p.T2563T	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		42	7854	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		2563			Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37	c.7689G>T		.	.	.	.	.	.	.	.	.	.	G	14.19	2.461649	0.43736	.	.	ENSG00000146839	ENST00000546213	T	0.25579	1.79	3.29	-2.21	0.06973	.	.	.	.	.	T	0.10551	0.0258	N	0.08118	0	0.22050	N	0.999393	B	0.02656	0.0	B	0.01281	0.0	T	0.23797	-1.0178	9	0.87932	D	0	.	2.75	0.05277	0.1563:0.1048:0.4814:0.2575	.	979	F5GX59	.	L	979	ENSP00000441117:R979L	ENSP00000423579:R2563L	R	+	2	0	ZAN	100227683	0.000000	0.05858	0.916000	0.36221	0.883000	0.51084	-1.287000	0.02785	-0.788000	0.04504	-2.613000	0.00159	CGG		PASS	0.652	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		8	29	8	29	---	---	---	---
MUC3A	4584	broad.mit.edu	37	7	100552594	100552594	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr7:100552594A>G	ENST00000319509.7	+	1	1345	c.1345A>G	c.(1345-1347)Agc>Ggc	p.S449G				Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	2114	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)	p.S449G(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CATGAAACCAAGCAGTAGCCT	0.572																																						uc003uxk.1																			2	Substitution - Missense(2)		lung(2)										Homo sapiens MUC3B mRNA for intestinal mucin, partial cds.							331.0	313.0	318.0					7																	100552594		876	1991	2867	SO:0001583	missense	0							g.chr7:100552594A>G	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.1345A>G	7.37:g.100552594A>G	ENSP00000324834:p.Ser449Gly					uc003uxl.1_Missense_Mutation_p.S349G								1		+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	RNA	SNP	ENST00000319509.7	37	c.1845A>G		.	.	.	.	.	.	.	.	.	.	A	12.15	1.852802	0.32699	.	.	ENSG00000169894	ENST00000319509	T	0.12255	2.7	1.79	1.79	0.24919	.	.	.	.	.	T	0.14356	0.0347	L	0.27053	0.805	0.30907	N	0.729093	D	0.55385	0.971	P	0.54629	0.757	T	0.17899	-1.0354	8	0.25106	T	0.35	-12.1696	7.5334	0.27695	1.0:0.0:0.0:0.0	.	2114	Q02505	MUC3A_HUMAN	G	449	ENSP00000324834:S449G	ENSP00000324834:S449G	S	+	1	0	MUC3A	100390530	0.000000	0.05858	0.015000	0.15790	0.026000	0.11368	0.375000	0.20518	1.057000	0.40506	0.383000	0.25322	AGC		PASS	0.572	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		4	190	4	190	---	---	---	---
MOGAT3	346606	broad.mit.edu	37	7	100841914	100841914	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr7:100841914C>G	ENST00000223114.4	-	4	652	c.486G>C	c.(484-486)atG>atC	p.M162I	MOGAT3_ENST00000379423.3_Missense_Mutation_p.M162I|MOGAT3_ENST00000440203.2_Missense_Mutation_p.M162I	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	162					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)	p.M162I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CACCAAAGGACATGATGTAGT	0.627																																						uc003uyc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(484-486)ATG>ATC		monoacylglycerol O-acyltransferase 3							40.0	40.0	40.0					7																	100841914		2203	4300	6503	SO:0001583	missense	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100841914C>G	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.486G>C	7.37:g.100841914C>G	ENSP00000223114:p.Met162Ile					MOGAT3_uc010lhr.2_Missense_Mutation_p.M162I	p.M162I	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN			4	653	-	Lung NSC(181;0.168)|all_lung(186;0.215)		162					Q496A6|Q496A7|Q496A8|Q9UDW7	Missense_Mutation	SNP	ENST00000223114.4	37	c.486G>C	CCDS5714.1	.	.	.	.	.	.	.	.	.	.	.	15.77	2.930873	0.52866	.	.	ENSG00000106384	ENST00000223114;ENST00000440203;ENST00000379423	T;T;T	0.12361	2.69;2.69;2.69	5.42	4.54	0.55810	.	0.127518	0.64402	D	0.000001	T	0.27134	0.0665	M	0.83012	2.62	0.32493	N	0.539888	P;P	0.48294	0.908;0.811	P;B	0.48368	0.575;0.433	T	0.48080	-0.9066	10	0.49607	T	0.09	-27.8378	12.2167	0.54410	0.0:0.9162:0.0:0.0837	.	162;162	Q86VF5-2;Q86VF5	.;MOGT3_HUMAN	I	162	ENSP00000223114:M162I;ENSP00000403756:M162I;ENSP00000368734:M162I	ENSP00000223114:M162I	M	-	3	0	MOGAT3	100628634	1.000000	0.71417	0.004000	0.12327	0.009000	0.06853	4.398000	0.59697	1.293000	0.44690	0.561000	0.74099	ATG		PASS	0.627	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		5	53	5	53	---	---	---	---
KMT2E	55904	broad.mit.edu	37	7	104702725	104702725	+	Splice_Site	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr7:104702725G>T	ENST00000311117.3	+	4	731	c.186G>T	c.(184-186)gcG>gcT	p.A62A	KMT2E_ENST00000334877.4_Splice_Site_p.A62A|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Splice_Site_p.A62A|KMT2E_ENST00000476671.1_Splice_Site_p.A62A	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	62					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.A62A(1)									TGCCCTATGCGGTAAGTGTTA	0.383																																						uc003vcm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(184-186)GCG>GCT		myeloid/lymphoid or mixed-lineage leukemia 5							123.0	113.0	116.0					7																	104702725		2203	4300	6503	SO:0001630	splice_region_variant	55904				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	g.chr7:104702725G>T	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.186+1G>T	7.37:g.104702725G>T						MLL5_uc010lja.1_5'UTR|MLL5_uc010ljb.1_Silent_p.A62A|MLL5_uc003vcl.2_Silent_p.A62A|MLL5_uc010ljc.2_Silent_p.A62A	p.A62A	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			4	720	+			62					B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Silent	SNP	ENST00000311117.3	37	c.186G>T	CCDS34723.1																																																																																				PASS	0.383	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1		Silent	30	180	30	180	---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113519831	113519831	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr7:113519831T>C	ENST00000284601.3	-	4	1384	c.1316A>G	c.(1315-1317)gAt>gGt	p.D439G		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	439					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.D439G(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AGCATTATCATCCAGGACTTC	0.413																																						uc010ljy.1																			1	Substitution - Missense(1)		lung(1)	lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(1315-1317)GAT>GGT		protein phosphatase 1, regulatory (inhibitor)							128.0	115.0	120.0					7																	113519831		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519831T>C	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1316A>G	7.37:g.113519831T>C	ENSP00000284601:p.Asp439Gly						p.D439G	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	1347	-			439					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1316A>G	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	T	13.57	2.277147	0.40294	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	T;T	0.68025	0.99;-0.3	5.77	4.62	0.57501	.	0.263683	0.32952	N	0.005456	T	0.77253	0.4103	M	0.72894	2.215	0.37695	D	0.923979	D	0.89917	1.0	D	0.87578	0.998	T	0.78750	-0.2082	10	0.49607	T	0.09	-1.4037	6.9563	0.24574	0.0:0.0776:0.1495:0.7729	.	439	Q16821	PPR3A_HUMAN	G	439;118	ENSP00000284601:D439G;ENSP00000401278:D118G	ENSP00000284601:D439G	D	-	2	0	PPP1R3A	113307067	1.000000	0.71417	0.946000	0.38457	0.002000	0.02628	3.094000	0.50227	1.016000	0.39470	0.459000	0.35465	GAT		PASS	0.413	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		31	143	31	143	---	---	---	---
KCND2	3751	broad.mit.edu	37	7	119915140	119915140	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr7:119915140G>T	ENST00000331113.4	+	1	1419	c.454G>T	c.(454-456)Gcg>Tcg	p.A152S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	152					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.A152S(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GCAGGACGACGCGGATACCGA	0.627																																						uc003vjj.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(454-456)GCG>TCG		potassium voltage-gated channel, Shal-related							75.0	77.0	76.0					7																	119915140		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915140G>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.454G>T	7.37:g.119915140G>T	ENSP00000333496:p.Ala152Ser						p.A152S	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			1	1419	+	all_neural(327;0.117)		152			Cytoplasmic (Potential).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.454G>T	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	1.931	-0.445844	0.04604	.	.	ENSG00000184408	ENST00000331113	D	0.96651	-4.08	5.71	5.71	0.89125	.	0.139652	0.48286	D	0.000182	D	0.93719	0.7993	L	0.38175	1.15	0.42758	D	0.993794	B	0.16802	0.019	B	0.18263	0.021	D	0.89973	0.4095	9	.	.	.	.	19.8677	0.96824	0.0:0.0:1.0:0.0	.	152	Q9NZV8	KCND2_HUMAN	S	152	ENSP00000333496:A152S	.	A	+	1	0	KCND2	119702376	1.000000	0.71417	0.416000	0.26546	0.046000	0.14306	4.930000	0.63462	2.709000	0.92574	0.655000	0.94253	GCG		PASS	0.627	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		32	60	32	60	---	---	---	---
OR2F1	26211	broad.mit.edu	37	7	143657604	143657604	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr7:143657604C>A	ENST00000392899.1	+	1	578	c.541C>A	c.(541-543)Ctc>Atc	p.L181I	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	181					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L181I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					ATCCTGTGAACTCCTAGCTGT	0.502																																						uc003wds.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(541-543)CTC>ATC		olfactory receptor, family 2, subfamily F,							170.0	150.0	157.0					7																	143657604		2203	4300	6503	SO:0001583	missense	26211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143657604C>A	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.541C>A	7.37:g.143657604C>A	ENSP00000376633:p.Leu181Ile						p.L181I	NM_012369	NP_036501	Q13607	OR2F1_HUMAN			1	585	+	Melanoma(164;0.0903)		181			Extracellular (Potential).		A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	ENST00000392899.1	37	c.541C>A	CCDS5887.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.435699	0.00182	.	.	ENSG00000213215	ENST00000392899	T	0.37411	1.2	5.53	-10.6	0.00265	GPCR, rhodopsin-like superfamily (1);	0.627268	0.14145	N	0.338392	T	0.17662	0.0424	N	0.05487	-0.04	0.09310	N	1	B	0.02656	0.0	B	0.15052	0.012	T	0.39881	-0.9592	10	0.11485	T	0.65	-0.052	25.9529	0.99995	0.8866:0.1134:0.0:0.0	.	181	Q13607	OR2F1_HUMAN	I	181	ENSP00000376633:L181I	ENSP00000376633:L181I	L	+	1	0	OR2F1	143288537	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-4.017000	0.00312	-1.745000	0.01337	-0.828000	0.03084	CTC		PASS	0.502	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			24	33	24	33	---	---	---	---
BLK	640	broad.mit.edu	37	8	11420487	11420487	+	Splice_Site	SNP	G	G	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr8:11420487G>A	ENST00000259089.4	+	12	1772		c.e12-1		RP11-148O21.2_ENST00000533322.1_RNA|BLK_ENST00000529894.1_Splice_Site	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase						B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TTTTCCCACAGGGGCCAAGTT	0.612																																						uc003wty.2																			1	Unknown(1)		lung(1)	large_intestine(1)|stomach(1)|ovary(1)	3						c.e12-1		B lymphoid tyrosine kinase							67.0	59.0	62.0					8																	11420487		2203	4300	6503	SO:0001630	splice_region_variant	640				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:11420487G>A	BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"""SH2 domain containing"""	1057	protein-coding gene	gene with protein product		191305	"""B lymphoid tyrosine kinase"""			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.1181-1G>A	8.37:g.11420487G>A						BLK_uc003wtz.2_Splice_Site_p.G323_splice|BLK_uc003wua.2_Splice_Site_p.G230_splice	p.G394_splice	NM_001715	NP_001706	P51451	BLK_HUMAN	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	12	1762	+								Q16291|Q96IN1	Splice_Site	SNP	ENST00000259089.4	37	c.1181_splice	CCDS5982.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460413	0.63401	.	.	ENSG00000136573	ENST00000259089;ENST00000427279;ENST00000529894;ENST00000526097	.	.	.	4.22	4.22	0.49857	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1153	0.81302	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BLK	11457896	1.000000	0.71417	0.962000	0.40283	0.699000	0.40488	9.312000	0.96287	2.325000	0.78763	0.455000	0.32223	.		PASS	0.612	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1		Intron	7	19	7	19	---	---	---	---
KIAA1456	57604	broad.mit.edu	37	8	12878990	12878990	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr8:12878990G>A	ENST00000524591.2	+	5	1291	c.802G>A	c.(802-804)Gta>Ata	p.V268I	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	268							methyltransferase activity (GO:0008168)	p.V268I(1)|p.V181I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						AATTGAAAGAGTAAGACCCTT	0.413																																						uc010lsq.2																			2	Substitution - Missense(2)		lung(2)		0						c.(802-804)GTA>ATA		hypothetical protein LOC57604 isoform 1							80.0	77.0	78.0					8																	12878990		1864	4100	5964	SO:0001583	missense	57604						methyltransferase activity	g.chr8:12878990G>A	BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"""chromosome 8 open reading frame 79"""	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.802G>A	8.37:g.12878990G>A	ENSP00000432695:p.Val268Ile					C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_Missense_Mutation_p.V181I|C8orf79_uc010lsr.2_Missense_Mutation_p.V142I	p.V268I	NM_020844	NP_065895	Q9P272	K1456_HUMAN			5	1294	+			268					Q96AW6	Missense_Mutation	SNP	ENST00000524591.2	37	c.802G>A	CCDS47808.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511792	0.44660	.	.	ENSG00000250305	ENST00000524591;ENST00000529978	T	0.10288	2.89	5.29	3.37	0.38596	.	1.208720	0.05742	N	0.601500	T	0.11750	0.0286	L	0.56769	1.78	0.09310	N	1	B	0.20887	0.049	B	0.22386	0.039	T	0.41106	-0.9527	10	0.34782	T	0.22	-0.8717	0.984	0.01442	0.2642:0.1597:0.4116:0.1646	.	268	Q9P272	K1456_HUMAN	I	268;181	ENSP00000432695:V268I	ENSP00000432695:V268I	V	+	1	0	AC135352.2	12923361	0.000000	0.05858	0.055000	0.19348	0.758000	0.43043	-0.114000	0.10757	1.365000	0.46057	0.655000	0.94253	GTA		PASS	0.413	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677		8	24	8	24	---	---	---	---
ADAM32	203102	broad.mit.edu	37	8	39111935	39111935	+	Silent	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr8:39111935G>T	ENST00000379907.4	+	18	2032	c.1905G>T	c.(1903-1905)gtG>gtT	p.V635V	ADAM32_ENST00000437682.2_Silent_p.V536V|ADAM32_ENST00000519315.1_Silent_p.V529V	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	635	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V634V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			GATCCTAGGTGTGTGATTCCA	0.353																																						uc003xmt.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|kidney(1)	3						c.(1903-1905)GTG>GTT		a disintegrin and metalloprotease domain 32							43.0	40.0	41.0					8																	39111935		1830	4080	5910	SO:0001819	synonymous_variant	203102				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:39111935G>T	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1905G>T	8.37:g.39111935G>T						ADAM32_uc011lch.1_Silent_p.V536V|ADAM32_uc003xmu.3_Silent_p.V529V|ADAM32_uc003xmv.2_Silent_p.V59V	p.V635V	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		18	2150	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	635			EGF-like.|Extracellular (Potential).		Q8TC42	Silent	SNP	ENST00000379907.4	37	c.1905G>T	CCDS47846.1																																																																																				PASS	0.353	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		3	11	3	11	---	---	---	---
ANK1	286	broad.mit.edu	37	8	41530104	41530104	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr8:41530104C>T	ENST00000347528.4	-	38	4947	c.4864G>A	c.(4864-4866)Gag>Aag	p.E1622K	ANK1_ENST00000352337.4_Missense_Mutation_p.E1622K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1622K|ANK1_ENST00000396945.1_Missense_Mutation_p.E1622K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1622K|ANK1_ENST00000265709.8_Missense_Mutation_p.E1663K|ANK1_ENST00000396942.1_Missense_Mutation_p.E1622K	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1622	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.E1622K(1)|p.E1663K(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTGTCGTCCTCCACAAGTTCC	0.557																																						uc003xok.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(4864-4866)GAG>AAG		ankyrin 1 isoform 1							155.0	152.0	153.0					8																	41530104		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41530104C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4864G>A	8.37:g.41530104C>T	ENSP00000339620:p.Glu1622Lys					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.E1622K|ANK1_uc003xoj.2_Missense_Mutation_p.E1622K|ANK1_uc003xol.2_Intron|ANK1_uc003xom.2_Missense_Mutation_p.E1663K	p.E1622K	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		38	4948	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1622			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.4864G>A	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464382	0.84425	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.39410	0.1077	L	0.53249	1.67	0.51767	D	0.999932	P;B;P;P	0.51449	0.945;0.102;0.716;0.905	P;B;B;B	0.50440	0.641;0.018;0.311;0.384	T	0.08432	-1.0722	10	0.11485	T	0.65	.	11.7187	0.51670	0.0:0.9191:0.0:0.0809	.	1663;1622;1622;1622	P16157-21;P16157;P16157-5;P16157-3	.;ANK1_HUMAN;.;.	K	1622;1622;1622;1622;1622;1622;1663	ENSP00000339620:E1622K;ENSP00000289734:E1622K;ENSP00000369082:E1622K;ENSP00000380149:E1622K;ENSP00000380147:E1622K;ENSP00000309131:E1622K;ENSP00000265709:E1663K	ENSP00000265709:E1663K	E	-	1	0	ANK1	41649261	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.507000	0.66999	2.635000	0.89317	0.552000	0.68991	GAG		PASS	0.557	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		23	152	23	152	---	---	---	---
POTEA	340441	broad.mit.edu	37	8	43157126	43157126	+	RNA	SNP	A	A	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr8:43157126A>G	ENST00000522175.2	+	0	697				RNU6-104P_ENST00000459597.1_RNA			Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.I236V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AACTGCCCTCATACTTGCTGT	0.323																																						uc003xpz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(706-708)ATA>GTA		POTE ankyrin domain family, member A isoform 2							83.0	91.0	88.0					8																	43157126		2148	4278	6426			340441							g.chr8:43157126A>G	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43157126A>G						POTEA_uc003xqa.1_Intron	p.I236V	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			5	749	+			236			ANK 5.		A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37	c.706A>G																																																																																					PASS	0.323	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		41	66	41	66	---	---	---	---
TGS1	96764	broad.mit.edu	37	8	56699527	56699527	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr8:56699527G>T	ENST00000260129.5	+	4	1547	c.1070G>T	c.(1069-1071)tGc>tTc	p.C357F		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	357					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)	p.C357F(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			AAAAGAGAGTGCCCTGCTTCC	0.443																																					Esophageal Squamous(34;275 823 4842 34837 48447)	uc003xsj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(1069-1071)TGC>TTC		trimethylguanosine synthase homolog							68.0	64.0	65.0					8																	56699527		2203	4300	6503	SO:0001583	missense	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56699527G>T	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.1070G>T	8.37:g.56699527G>T	ENSP00000260129:p.Cys357Phe					TGS1_uc010lyh.2_Missense_Mutation_p.C261F	p.C357F	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		4	1457	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	357					A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	c.1070G>T	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620148	0.46736	.	.	ENSG00000137574	ENST00000260129	T	0.20598	2.06	5.79	4.91	0.64330	.	0.173879	0.50627	D	0.000107	T	0.33673	0.0871	M	0.75447	2.3	0.42855	D	0.994093	P;P	0.52842	0.956;0.944	P;P	0.48425	0.577;0.496	T	0.16928	-1.0386	10	0.66056	D	0.02	-14.8715	13.944	0.64073	0.0731:0.0:0.9269:0.0	.	357;357	B2RBJ7;Q96RS0	.;TGS1_HUMAN	F	357	ENSP00000260129:C357F	ENSP00000260129:C357F	C	+	2	0	TGS1	56862081	1.000000	0.71417	0.992000	0.48379	0.118000	0.20060	2.685000	0.46959	2.733000	0.93635	0.655000	0.94253	TGC		PASS	0.443	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		21	30	21	30	---	---	---	---
LACTB2	51110	broad.mit.edu	37	8	71553256	71553256	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr8:71553256C>G	ENST00000276590.4	-	5	658	c.622G>C	c.(622-624)Gct>Cct	p.A208P	LACTB2_ENST00000517601.1_Intron|RP11-382J12.1_ENST00000499227.2_Intron|LACTB2_ENST00000522447.1_Missense_Mutation_p.A208P|RP11-382J12.1_ENST00000518553.1_Intron	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	208						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.A208P(1)		endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TGAATTTTAGCTTCAGCATTA	0.308																																						uc011lfd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(622-624)GCT>CCT		lactamase, beta 2							38.0	40.0	40.0					8																	71553256		2199	4287	6486	SO:0001583	missense	51110						hydrolase activity|metal ion binding	g.chr8:71553256C>G	AF151841	CCDS6208.1	8q13.3	2005-10-14			ENSG00000147592	ENSG00000147592			18512	protein-coding gene	gene with protein product							Standard	NM_016027		Approved	CGI-83	uc003xyp.3	Q53H82	OTTHUMG00000164430	ENST00000276590.4:c.622G>C	8.37:g.71553256C>G	ENSP00000276590:p.Ala208Pro					LACTB2_uc003xyp.2_Missense_Mutation_p.A208P	p.A208P	NM_016027	NP_057111	Q53H82	LACB2_HUMAN	Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)		5	714	-	Breast(64;0.0716)		208					A8K2D6|Q9Y392	Missense_Mutation	SNP	ENST00000276590.4	37	c.622G>C	CCDS6208.1	.	.	.	.	.	.	.	.	.	.	C	7.905	0.735292	0.15574	.	.	ENSG00000147592	ENST00000522447;ENST00000276590	T;T	0.45668	0.89;0.89	5.9	5.9	0.94986	.	0.368715	0.30168	N	0.010252	T	0.42585	0.1209	M	0.63428	1.95	0.37601	D	0.920563	B	0.14805	0.011	B	0.14023	0.01	T	0.33343	-0.9872	10	0.30078	T	0.28	-20.9403	15.4126	0.74941	0.0:0.9321:0.0:0.0679	.	208	Q53H82	LACB2_HUMAN	P	208	ENSP00000428801:A208P;ENSP00000276590:A208P	ENSP00000276590:A208P	A	-	1	0	LACTB2	71715810	0.999000	0.42202	0.994000	0.49952	0.244000	0.25665	1.137000	0.31479	2.811000	0.96726	0.638000	0.83543	GCT		PASS	0.308	LACTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378748.1	NM_016027		15	41	15	41	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77766728	77766728	+	Missense_Mutation	SNP	T	T	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr8:77766728T>G	ENST00000521891.2	+	10	8019	c.7571T>G	c.(7570-7572)cTt>cGt	p.L2524R	ZFHX4_ENST00000455469.2_Missense_Mutation_p.L2479R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L2479R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L2498R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.L2508R(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACCAATTCCTTCACTCTCCG	0.498										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7435-7437)CTT>CGT		zinc finger homeodomain 4							172.0	172.0	172.0					8																	77766728		2036	4219	6255	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766728T>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7571T>G	8.37:g.77766728T>G	ENSP00000430497:p.Leu2524Arg	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.L2524R|ZFHX4_uc003yaw.1_Missense_Mutation_p.L2479R	p.L2479R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7823	+			2479					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7436T>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	14.75	2.628329	0.46944	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.54071	0.59;0.64;0.61;0.6	4.94	4.94	0.65067	.	0.188886	0.25677	U	0.029028	T	0.66366	0.2782	L	0.53249	1.67	0.53005	D	0.999966	D;D;D	0.69078	0.994;0.997;0.997	P;D;D	0.66847	0.837;0.947;0.921	T	0.67960	-0.5535	10	0.52906	T	0.07	.	14.7648	0.69632	0.0:0.0:0.0:1.0	.	2479;2479;2524	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	R	2524;2508;2479;2479;2498	ENSP00000430497:L2524R;ENSP00000399605:L2479R;ENSP00000050961:L2479R;ENSP00000430848:L2498R	ENSP00000050961:L2479R	L	+	2	0	ZFHX4	77929283	1.000000	0.71417	0.976000	0.42696	0.979000	0.70002	7.861000	0.87004	2.077000	0.62373	0.528000	0.53228	CTT		PASS	0.498	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		13	123	13	123	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139165236	139165236	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr8:139165236C>T	ENST00000395297.1	-	13	1652	c.1482G>A	c.(1480-1482)atG>atA	p.M494I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	494								p.M494I(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATTCAGAGCACATGTCCATAT	0.418										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(1480-1482)ATG>ATA		hypothetical protein LOC51059							137.0	129.0	132.0					8																	139165236		1942	4152	6094	SO:0001583	missense	51059							g.chr8:139165236C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1482G>A	8.37:g.139165236C>T	ENSP00000378710:p.Met494Ile	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.M395I|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.M56I|FAM135B_uc003yvb.2_Missense_Mutation_p.M56I	p.M494I	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	1653	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		494					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1482G>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	7.867	0.727340	0.15439	.	.	ENSG00000147724	ENST00000395297	T	0.13420	2.59	5.75	2.69	0.31865	.	2.123460	0.01630	N	0.023460	T	0.12817	0.0311	L	0.36672	1.1	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.0	T	0.28038	-1.0056	10	0.21014	T	0.42	0.3646	6.5347	0.22346	0.1388:0.6373:0.0:0.224	.	494;494;494	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	I	494	ENSP00000378710:M494I	ENSP00000276737:M494I	M	-	3	0	FAM135B	139234418	0.006000	0.16342	0.001000	0.08648	0.063000	0.16089	0.152000	0.16302	0.790000	0.33803	0.655000	0.94253	ATG		PASS	0.418	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		40	62	40	62	---	---	---	---
RHPN1	114822	broad.mit.edu	37	8	144463805	144463805	+	Silent	SNP	C	C	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr8:144463805C>A	ENST00000289013.6	+	13	1653	c.1552C>A	c.(1552-1554)Cga>Aga	p.R518R		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	543					signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)	p.R518R(2)		endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CCACCTGACCCGAGGAGAGGG	0.711																																						uc003yyb.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)	1						c.(1552-1554)CGA>AGA		rhophilin 1							22.0	31.0	28.0					8																	144463805		1956	4135	6091	SO:0001819	synonymous_variant	114822				signal transduction	intracellular		g.chr8:144463805C>A	AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.1552C>A	8.37:g.144463805C>A							p.R518R	NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)		13	1685	+	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		543			PDZ.		Q8TAV1|Q96PV9	Silent	SNP	ENST00000289013.6	37	c.1552C>A	CCDS47927.1																																																																																				PASS	0.711	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381417.1			3	25	3	25	---	---	---	---
TMEM2	23670	broad.mit.edu	37	9	74305159	74305159	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr9:74305159T>C	ENST00000377044.4	-	22	4239	c.3700A>G	c.(3700-3702)Aat>Gat	p.N1234D	TMEM2_ENST00000377066.5_Missense_Mutation_p.N1171D|TMEM2_ENST00000396272.3_Missense_Mutation_p.N227D	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1234					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.N1234D(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TCAGTGCCATTGACCTGAGAA	0.478																																						uc011lsa.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3700-3702)AAT>GAT		transmembrane protein 2 isoform a							94.0	74.0	80.0					9																	74305159		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74305159T>C		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3700A>G	9.37:g.74305159T>C	ENSP00000366243:p.Asn1234Asp					TMEM2_uc011lrz.1_Missense_Mutation_p.N227D|TMEM2_uc010mos.2_Missense_Mutation_p.N1171D|TMEM2_uc011lsb.1_RNA|TMEM2_uc004aik.2_Missense_Mutation_p.N68D	p.N1234D	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	22	4240	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	1234					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.3700A>G	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	T	16.92	3.256341	0.59321	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272	T;T;T	0.73575	-0.76;-0.67;2.5	5.77	5.77	0.91146	.	0.040626	0.85682	D	0.000000	T	0.65037	0.2653	L	0.33137	0.985	0.58432	D	0.999997	B;B	0.30146	0.27;0.264	B;B	0.32533	0.147;0.105	T	0.61182	-0.7114	10	0.12103	T	0.63	.	16.1043	0.81209	0.0:0.0:0.0:1.0	.	1234;1171	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	D	1234;1171;227	ENSP00000366243:N1234D;ENSP00000366266:N1171D;ENSP00000379569:N227D	ENSP00000366243:N1234D	N	-	1	0	TMEM2	73494979	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	5.407000	0.66363	2.201000	0.70794	0.528000	0.53228	AAT		PASS	0.478	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		14	17	14	17	---	---	---	---
SLC2A6	11182	broad.mit.edu	37	9	136338230	136338230	+	Silent	SNP	C	C	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr9:136338230C>A	ENST00000371899.4	-	9	1442	c.1365G>T	c.(1363-1365)gtG>gtT	p.V455V	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Silent_p.V393V	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	455					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.V455V(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CACTCACCACCACTGGCAGGA	0.682																																						uc004cee.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1363-1365)GTG>GTT		solute carrier family 2 (facilitated glucose							32.0	32.0	32.0					9																	136338230		2202	4293	6495	SO:0001819	synonymous_variant	11182					integral to membrane|plasma membrane	D-glucose transmembrane transporter activity	g.chr9:136338230C>A	AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"""Solute carriers"""	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.1365G>T	9.37:g.136338230C>A						SLC2A6_uc004cef.2_Silent_p.V393V|SLC2A6_uc004ceg.2_Silent_p.V432V	p.V455V	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)	9	1460	-			455			Helical; Name=11; (Potential).		A6NNU6|Q5SXD7|Q8NCC2	Silent	SNP	ENST00000371899.4	37	c.1365G>T	CCDS6975.1																																																																																				PASS	0.682	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054909.1	NM_017585		3	16	3	16	---	---	---	---
FCN1	2219	broad.mit.edu	37	9	137808229	137808229	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr9:137808229C>T	ENST00000371806.3	-	2	273	c.182G>A	c.(181-183)gGg>gAg	p.G61E		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	61	Collagen-like.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)	p.G61E(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TCCCTTTGGCCCTGGGGCCCC	0.652																																						uc004cfi.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(181-183)GGG>GAG		ficolin 1 precursor							95.0	117.0	110.0					9																	137808229		2203	4299	6502	SO:0001583	missense	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137808229C>T	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.182G>A	9.37:g.137808229C>T	ENSP00000360871:p.Gly61Glu						p.G61E	NM_002003	NP_001994	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	2	274	-		Myeloproliferative disorder(178;0.0333)	61			Collagen-like.		Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	c.182G>A	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313773	0.40996	.	.	ENSG00000085265	ENST00000371807;ENST00000371806;ENST00000308299	D	0.99353	-5.77	3.96	3.96	0.45880	.	.	.	.	.	D	0.99468	0.9811	M	0.91300	3.195	0.35839	D	0.825875	D	0.89917	1.0	D	0.97110	1.0	D	0.99470	1.0945	9	0.72032	D	0.01	.	13.8781	0.63665	0.0:1.0:0.0:0.0	.	61	O00602	FCN1_HUMAN	E	61	ENSP00000360871:G61E	ENSP00000308877:G61E	G	-	2	0	FCN1	136948050	0.975000	0.34042	0.439000	0.26833	0.018000	0.09664	4.748000	0.62148	2.185000	0.69588	0.637000	0.83480	GGG		PASS	0.652	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		57	100	57	100	---	---	---	---
SFMBT2	57713	broad.mit.edu	37	10	7205784	7205784	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr10:7205784C>G	ENST00000361972.4	-	21	2723	c.2633G>C	c.(2632-2634)tGc>tCc	p.C878S	SFMBT2_ENST00000397167.1_Missense_Mutation_p.C878S	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	878	SAM.				negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.C878S(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GATCTGGTGGCATAACTTGAT	0.567																																						uc009xio.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(2632-2634)TGC>TCC		Scm-like with four mbt domains 2							110.0	91.0	97.0					10																	7205784		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7205784C>G	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2633G>C	10.37:g.7205784C>G	ENSP00000355109:p.Cys878Ser					SFMBT2_uc001ijn.1_Missense_Mutation_p.C878S|SFMBT2_uc010qay.1_Missense_Mutation_p.C713S	p.C878S	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			21	2724	-			878			SAM.		A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.2633G>C	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	C	34	5.387062	0.95988	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.26810	1.71;1.71	5.61	5.61	0.85477	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.41880	0.1178	L	0.54965	1.715	0.80722	D	1	P	0.45672	0.864	P	0.54499	0.754	T	0.02184	-1.1199	10	0.25751	T	0.34	.	19.6373	0.95740	0.0:1.0:0.0:0.0	.	878	Q5VUG0	SMBT2_HUMAN	S	878	ENSP00000355109:C878S;ENSP00000380353:C878S	ENSP00000355109:C878S	C	-	2	0	SFMBT2	7245790	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	7.711000	0.84669	2.636000	0.89361	0.655000	0.94253	TGC		PASS	0.567	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		5	26	5	26	---	---	---	---
ITGB1	3688	broad.mit.edu	37	10	33197297	33197297	+	Splice_Site	SNP	G	G	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr10:33197297G>A	ENST00000396033.2	-	15	2465	c.2330C>T	c.(2329-2331)aCg>aTg	p.T777M	ITGB1_ENST00000374956.4_Splice_Site_p.T777M|ITGB1_ENST00000302278.3_Splice_Site_p.T777M|ITGB1_ENST00000423113.1_Splice_Site_p.T777M	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	777					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)	p.T777M(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	GTAACTTACCGTGTCCCATTT	0.348																																						uc001iws.3																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(2329-2331)ACG>ATG		integrin beta 1 isoform 1A precursor							162.0	156.0	158.0					10																	33197297		2203	4300	6503	SO:0001630	splice_region_variant	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33197297G>A	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.2331+1C>T	10.37:g.33197297G>A						ITGB1_uc001iwp.3_Missense_Mutation_p.T777M|ITGB1_uc001iwq.3_Missense_Mutation_p.T777M|ITGB1_uc001iwr.3_Missense_Mutation_p.T777M|ITGB1_uc001iwt.3_Missense_Mutation_p.T777M|ITGB1_uc001iwu.1_Missense_Mutation_p.T777M	p.T777M	NM_133376	NP_596867	P05556	ITB1_HUMAN			15	2466	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	777			Cytoplasmic (Potential).		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.2330C>T	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225376	0.79576	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	5.93	5.01	0.66863	Integrin beta subunit, cytoplasmic (2);	0.000000	0.85682	D	0.000000	D	0.93148	0.7818	M	0.65677	2.01	0.80722	D	1	D;D;D;D;D	0.89917	0.995;0.998;0.998;0.999;1.0	P;D;D;P;D	0.65987	0.867;0.91;0.94;0.707;0.94	D	0.92649	0.6131	10	0.40728	T	0.16	.	17.0227	0.86438	0.0:0.1273:0.8727:0.0	.	777;777;777;777;777	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	M	777	ENSP00000379350:T777M;ENSP00000388694:T777M;ENSP00000303351:T777M;ENSP00000364094:T777M	ENSP00000303351:T777M	T	-	2	0	ITGB1	33237303	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.869000	0.99810	1.467000	0.48044	0.555000	0.69702	ACG		PASS	0.348	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211	Missense_Mutation	26	62	26	62	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55566720	55566720	+	Silent	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr10:55566720G>T	ENST00000373965.2	-	36	5068	c.4674C>A	c.(4672-4674)acC>acA	p.T1558T	PCDH15_ENST00000414778.1_Silent_p.T1555T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.T1555T(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGGCACGGCGGGTTCTCACCA	0.478										HNSCC(58;0.16)																												uc010qhq.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4666-4668)ACC>ACA		protocadherin 15 isoform CD3-1 precursor							92.0	87.0	88.0					10																	55566720		1568	3581	5149	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55566720G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.4674C>A	10.37:g.55566720G>T		HNSCC(58;0.16)				PCDH15_uc010qhr.1_Silent_p.T1551T	p.T1556T	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN			36	5063	-		Melanoma(3;0.117)|Lung SC(717;0.238)	Error:Variant_position_missing_in_Q96QU1_after_alignment					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000373965.2	37	c.4668C>A																																																																																					PASS	0.478	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	NM_033056		12	58	12	58	---	---	---	---
IFIT1	3434	broad.mit.edu	37	10	91162119	91162119	+	Silent	SNP	C	C	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr10:91162119C>T	ENST00000371804.3	+	2	254	c.87C>T	c.(85-87)gaC>gaT	p.D29D	IFIT1_ENST00000546318.1_5'UTR|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	29					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)	p.D29D(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						CCATTGATGACGATGAAATGC	0.383																																						uc001kgi.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(85-87)GAC>GAT		interferon-induced protein with							133.0	121.0	125.0					10																	91162119		2203	4300	6503	SO:0001819	synonymous_variant	3434				cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	g.chr10:91162119C>T	M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.87C>T	10.37:g.91162119C>T						LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|IFIT1_uc009xtt.2_Silent_p.D29D|IFIT1_uc001kgj.2_Translation_Start_Site	p.D29D	NM_001548	NP_001539	P09914	IFIT1_HUMAN			2	235	+			29					B3KS50|D3DR31|Q5T7J1|Q96QM5	Silent	SNP	ENST00000371804.3	37	c.87C>T	CCDS31243.1																																																																																				PASS	0.383	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		14	59	14	59	---	---	---	---
CYP2C18	1562	broad.mit.edu	37	10	96493185	96493185	+	Silent	SNP	T	T	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr10:96493185T>A	ENST00000285979.6	+	8	1480	c.1281T>A	c.(1279-1281)ccT>ccA	p.P427P	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Silent_p.P368P	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	427					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.P427P(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	ACTTCATGCCTTTCTCAGCAG	0.433																																						uc010qny.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(91-93)CTT>CAT		cytochrome P450, family 2, subfamily C,	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						139.0	126.0	130.0					10																	96493185		2203	4300	6503	SO:0001819	synonymous_variant	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96493185T>A	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.1281T>A	10.37:g.96493185T>A						CYP2C18_uc001kjv.3_Silent_p.P427P|CYP2C18_uc001kjw.3_Silent_p.P368P|CYP2C19_uc009xus.1_Intron	p.L31H	NM_000769	NP_000760	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	6	950	+		Colorectal(252;0.09)	Error:Variant_position_missing_in_P33261_after_alignment					B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	37	c.92T>A	CCDS7435.1																																																																																				PASS	0.433	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		27	44	27	44	---	---	---	---
LZTS2	84445	broad.mit.edu	37	10	102763912	102763912	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr10:102763912A>T	ENST00000370220.1	+	2	4120	c.1057A>T	c.(1057-1059)Acc>Tcc	p.T353S	LZTS2_ENST00000370223.3_Missense_Mutation_p.T353S					leucine zipper, putative tumor suppressor 2									p.T216S(1)|p.T353S(1)		breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GAATGAGGCTACCATGTGCCA	0.597																																					Esophageal Squamous(8;38 437 13604 19902 37640)	uc001ksj.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)|breast(1)	4						c.(1057-1059)ACC>TCC		leucine zipper, putative tumor suppressor 2							29.0	32.0	31.0					10																	102763912		2187	4266	6453	SO:0001583	missense	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102763912A>T	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.1057A>T	10.37:g.102763912A>T	ENSP00000359240:p.Thr353Ser					LZTS2_uc010qpw.1_Missense_Mutation_p.T353S|LZTS2_uc001ksk.2_Missense_Mutation_p.T353S|LZTS2_uc001ksl.2_Missense_Mutation_p.T353S|LZTS2_uc001ksm.2_RNA	p.T353S	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	3	1126	+			353			Potential.			Missense_Mutation	SNP	ENST00000370220.1	37	c.1057A>T	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.319685	0.81469	.	.	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	T;T	0.44083	0.93;0.93	5.12	-2.44	0.06502	.	0.280340	0.38605	N	0.001632	T	0.12561	0.0305	N	0.03608	-0.345	0.21184	N	0.999762	B	0.09022	0.002	B	0.12156	0.007	T	0.13522	-1.0506	9	.	.	.	-8.3992	1.965	0.03394	0.2345:0.1696:0.4286:0.1673	.	353	Q9BRK4	LZTS2_HUMAN	S	353	ENSP00000359243:T353S;ENSP00000359240:T353S	.	T	+	1	0	LZTS2	102753902	0.988000	0.35896	0.000000	0.03702	0.788000	0.44548	2.258000	0.43249	-0.245000	0.09625	0.459000	0.35465	ACC		PASS	0.597	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		5	18	5	18	---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124335935	124335935	+	Silent	SNP	C	C	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr10:124335935C>T	ENST00000338354.3	+	7	410	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L	DMBT1_ENST00000368956.2_Silent_p.L102L|DMBT1_ENST00000368909.3_Silent_p.L102L|DMBT1_ENST00000330163.4_Silent_p.L102L|DMBT1_ENST00000344338.3_Silent_p.L102L|DMBT1_ENST00000359586.6_Silent_p.L102L|DMBT1_ENST00000368955.3_Silent_p.L102L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	102	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.L102L(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGTTTGGCCCTGAGGCTGGT	0.557																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1																			3	Substitution - coding silent(3)		lung(3)	central_nervous_system(7)	7						c.(304-306)CTG>TTG		deleted in malignant brain tumors 1 isoform b							125.0	128.0	127.0					10																	124335935		2004	4204	6208	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124335935C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.304C>T	10.37:g.124335935C>T						DMBT1_uc001lgl.1_Silent_p.L102L|DMBT1_uc001lgm.1_Silent_p.L102L|DMBT1_uc009xzz.1_Silent_p.L102L|DMBT1_uc010qtx.1_Silent_p.L102L|DMBT1_uc009yaa.1_5'UTR	p.L102L	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			7	410	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	102			SRCR 1.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.304C>T																																																																																					PASS	0.557	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		35	66	35	66	---	---	---	---
OR52J3	119679	broad.mit.edu	37	11	5068517	5068518	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr11:5068517_5068518CC>AA	ENST00000380370.1	+	1	762_763	c.762_763CC>AA	c.(760-765)atCCct>atAAct	p.P255T		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P255T(2)|p.I254I(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTTTCTATATCCCTTCAGTCTT	0.45																																						uc010qyv.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)|lung(1)|skin(1)	3						c.(760-762)ATC>ATA|c.(763-765)CCT>ACT		olfactory receptor, family 52, subfamily J,																																				SO:0001583	missense	119679				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5068517C>A|g.chr11:5068518C>A	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	Exception_encountered	11.37:g.5068517_5068518delinsAA	ENSP00000369728:p.Pro255Thr						p.I254I|p.P255T	NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	762|763	+		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	254|255			Helical; Name=6; (Potential).		Q6IFE4	Silent|Missense_Mutation	SNP	ENST00000380370.1	37	c.762C>A|c.763C>A	CCDS31370.1																																																																																				PASS	0.450	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		35	95|92	35	92	---	---	---	---
OR52B6	340980	broad.mit.edu	37	11	5602557	5602557	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr11:5602557T>A	ENST00000345043.2	+	1	451	c.451T>A	c.(451-453)Tat>Aat	p.Y151N	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y151N(1)		endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCCTGCGATATGTCACAAT	0.512																																						uc010qzi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(451-453)TAT>AAT		olfactory receptor, family 52, subfamily B,							157.0	164.0	162.0					11																	5602557		2201	4297	6498	SO:0001583	missense	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602557T>A	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.451T>A	11.37:g.5602557T>A	ENSP00000341581:p.Tyr151Asn					HBG2_uc001mak.1_Intron	p.Y151N	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	451	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	151			Cytoplasmic (Potential).		Q6IFI7	Missense_Mutation	SNP	ENST00000345043.2	37	c.451T>A	CCDS41611.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.679861	0.47886	.	.	ENSG00000187747	ENST00000345043	T	0.33438	1.41	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36034	U	0.002840	T	0.70141	0.3190	H	0.98133	4.155	0.43719	D	0.996196	D	0.89917	1.0	D	0.97110	1.0	T	0.81942	-0.0702	10	0.87932	D	0	.	13.936	0.64026	0.0:0.0:0.0:1.0	.	151	Q8NGF0	O52B6_HUMAN	N	151	ENSP00000341581:Y151N	ENSP00000341581:Y151N	Y	+	1	0	OR52B6	5559133	0.997000	0.39634	0.035000	0.18076	0.003000	0.03518	2.873000	0.48475	2.159000	0.67721	0.528000	0.53228	TAT		PASS	0.512	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		20	82	20	82	---	---	---	---
TRIM22	10346	broad.mit.edu	37	11	5719584	5719584	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr11:5719584T>A	ENST00000379965.3	+	4	836	c.559T>A	c.(559-561)Ttc>Atc	p.F187I	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	187					defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.F187I(1)		kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TCTGAAAGGGTTCAATGAAAT	0.463																																					GBM(104;491 2336 5222)	uc001mbr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(559-561)TTC>ATC		tripartite motif-containing 22							77.0	82.0	80.0					11																	5719584		2024	4193	6217	SO:0001583	missense	10346				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr11:5719584T>A	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.559T>A	11.37:g.5719584T>A	ENSP00000369299:p.Phe187Ile					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Missense_Mutation_p.F155I|TRIM22_uc009yes.2_Missense_Mutation_p.F183I|TRIM22_uc010qzm.1_Intron|TRIM22_uc009yeu.2_5'UTR	p.F187I	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	4	836	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	187			Potential.		Q05CQ0|Q15521	Missense_Mutation	SNP	ENST00000379965.3	37	c.559T>A	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.472879	0.84640	.	.	ENSG00000132274	ENST00000379965;ENST00000425490;ENST00000454828;ENST00000414641	T;T;T;T	0.75260	3.49;-0.74;3.49;-0.92	3.76	3.76	0.43208	.	.	.	.	.	D	0.86163	0.5867	M	0.86864	2.845	0.09310	N	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.87578	0.987;0.998;0.991	T	0.75306	-0.3364	9	0.66056	D	0.02	.	9.1493	0.36953	0.0:0.0:0.0:1.0	.	155;183;187	C9JWC5;Q8IYM9-2;Q8IYM9	.;.;TRI22_HUMAN	I	187;187;155;187	ENSP00000369299:F187I;ENSP00000400417:F187I;ENSP00000393250:F155I;ENSP00000396849:F187I	ENSP00000369299:F187I	F	+	1	0	TRIM22	5676160	0.659000	0.27411	0.009000	0.14445	0.885000	0.51271	2.874000	0.48483	1.958000	0.56883	0.377000	0.23210	TTC		PASS	0.463	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		3	26	3	26	---	---	---	---
OR56A3	390083	broad.mit.edu	37	11	5968711	5968711	+	Silent	SNP	C	C	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr11:5968711C>G	ENST00000329564.6	+	1	142	c.135C>G	c.(133-135)gcC>gcG	p.A45A	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A45A(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCGTAGGGGCCAACACCACCC	0.597																																						uc010qzt.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(133-135)GCC>GCG		olfactory receptor, family 56, subfamily A,							120.0	121.0	121.0					11																	5968711		2201	4296	6497	SO:0001819	synonymous_variant	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5968711C>G		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.135C>G	11.37:g.5968711C>G							p.A45A	NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	135	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	45			Helical; Name=1; (Potential).		A6NN77|Q6IFF7	Silent	SNP	ENST00000329564.6	37	c.135C>G	CCDS41614.1																																																																																				PASS	0.597	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		25	64	25	64	---	---	---	---
FOLH1	2346	broad.mit.edu	37	11	49175797	49175797	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr11:49175797G>T	ENST00000256999.2	-	16	2131	c.1871C>A	c.(1870-1872)aCa>aAa	p.T624K	FOLH1_ENST00000533034.1_Missense_Mutation_p.T609K|FOLH1_ENST00000340334.7_Missense_Mutation_p.T609K|FOLH1_ENST00000343844.4_Missense_Mutation_p.T316K|FOLH1_ENST00000356696.3_Missense_Mutation_p.T624K	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	624					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.T624K(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TACACTGTATGTCTTCATTTC	0.333																																						uc001ngy.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1870-1872)ACA>AAA		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						148.0	133.0	138.0					11																	49175797		2201	4298	6499	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49175797G>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1871C>A	11.37:g.49175797G>T	ENSP00000256999:p.Thr624Lys					FOLH1_uc001ngx.2_Missense_Mutation_p.T56K|FOLH1_uc001ngz.2_Missense_Mutation_p.T624K|FOLH1_uc009yly.2_Missense_Mutation_p.T609K|FOLH1_uc009ylz.2_Missense_Mutation_p.T609K|FOLH1_uc009yma.2_Missense_Mutation_p.T316K	p.T624K	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			16	2132	-			624			Extracellular (Probable).		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.1871C>A	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.611832	0.00835	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	3.62	-1.23	0.09465	Transferrin receptor-like, dimerisation domain (2);	1.072360	0.07228	N	0.861951	T	0.15003	0.0362	L	0.36672	1.1	0.09310	N	1	B;B;B;B;P	0.34864	0.0;0.0;0.0;0.0;0.473	B;B;B;B;B	0.27887	0.001;0.0;0.001;0.0;0.084	T	0.15435	-1.0437	10	0.05721	T	0.95	.	3.3695	0.07215	0.2258:0.0:0.31:0.4642	.	609;609;624;624;39	Q04609-9;Q04609-7;Q04609-8;Q04609;Q04609-3	.;.;.;FOLH1_HUMAN;.	K	624;624;609;316;609	ENSP00000256999:T624K;ENSP00000349129:T624K;ENSP00000344131:T609K;ENSP00000344086:T316K;ENSP00000431463:T609K	ENSP00000256999:T624K	T	-	2	0	FOLH1	49132373	0.000000	0.05858	0.099000	0.21106	0.819000	0.46315	-0.513000	0.06305	-0.003000	0.14444	0.404000	0.27445	ACA		PASS	0.333	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		9	68	9	68	---	---	---	---
OR4S2	219431	broad.mit.edu	37	11	55419293	55419293	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr11:55419293T>A	ENST00000312422.2	+	1	914	c.914T>A	c.(913-915)tTc>tAc	p.F305Y		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F305Y(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AGAAATGTTTTCTTGGAGGCT	0.348																																						uc001nhs.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(913-915)TTC>TAC		olfactory receptor, family 4, subfamily S,							100.0	96.0	98.0					11																	55419293		2174	4013	6187	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55419293T>A	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.914T>A	11.37:g.55419293T>A	ENSP00000310337:p.Phe305Tyr						p.F305Y	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			1	914	+		all_epithelial(135;0.0748)	305			Cytoplasmic (Potential).		Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.914T>A	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	T	6.416	0.444883	0.12164	.	.	ENSG00000174982	ENST00000312422	T	0.08634	3.07	5.35	2.8	0.32819	.	0.776025	0.11297	N	0.578594	T	0.05090	0.0136	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44667	-0.9313	10	0.13470	T	0.59	.	8.6108	0.33801	0.3053:0.0:0.0:0.6947	.	305	Q8NH73	OR4S2_HUMAN	Y	305	ENSP00000310337:F305Y	ENSP00000310337:F305Y	F	+	2	0	OR4S2	55175869	0.002000	0.14202	0.012000	0.15200	0.647000	0.38526	0.059000	0.14322	0.822000	0.34565	0.443000	0.29094	TTC		PASS	0.348	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		29	103	29	103	---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55432917	55432918	+	Missense_Mutation	DNP	TC	TC	CA			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr11:55432917_55432918TC>CA	ENST00000314259.3	+	1	304_305	c.275_276TC>CA	c.(274-276)cTC>cCA	p.L92P		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L92L(2)|p.L92P(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ACCATCTCTCTCAAAGGCTGCC	0.5																																						uc001nht.3																			4	Substitution - Missense(2)|Substitution - coding silent(2)		lung(3)|cervix(1)	skin(2)	2						c.(274-276)CTC>CCC|c.(274-276)CTC>CTA		olfactory receptor, family 4, subfamily C,																																				SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432917T>C|g.chr11:55432918C>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	Exception_encountered	11.37:g.55432917_55432918delinsCA	ENSP00000324769:p.Leu92Pro					OR4C6_uc010rik.1_Missense_Mutation_p.L92P|OR4C6_uc010rik.1_Silent_p.L92L	p.L92P|p.L92L	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	540|541	+			92			Extracellular (Potential).		B2RP11|Q6IFD2	Missense_Mutation|Silent	SNP	ENST00000314259.3	37	c.275T>C|c.276C>A	CCDS31506.1																																																																																				PASS	0.500	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		13	38|37	13	37	---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55432933	55432933	+	Silent	SNP	C	C	A	rs77687368	byFrequency	TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr11:55432933C>A	ENST00000314259.3	+	1	320	c.291C>A	c.(289-291)acC>acA	p.T97T		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T97T(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GCTGCCTCACCCAGCTGTTTG	0.527																																						uc001nht.3																			2	Substitution - coding silent(2)		lung(2)	skin(2)	2						c.(289-291)ACC>ACA		olfactory receptor, family 4, subfamily C,							125.0	114.0	117.0					11																	55432933		2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432933C>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.291C>A	11.37:g.55432933C>A						OR4C6_uc010rik.1_Silent_p.T97T	p.T97T	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	556	+			97			Extracellular (Potential).		B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.291C>A	CCDS31506.1																																																																																				PASS	0.527	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		15	36	15	36	---	---	---	---
OR5W2	390148	broad.mit.edu	37	11	55681789	55681789	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr11:55681789C>G	ENST00000344514.1	-	1	269	c.270G>C	c.(268-270)aaG>aaC	p.K90N		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K90N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGGGTATTGACTTGTTCTTGG	0.448																																					Melanoma(48;171 1190 15239 43886 49348)	uc010rir.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(268-270)AAG>AAC		olfactory receptor, family 5, subfamily W,							146.0	139.0	141.0					11																	55681789		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681789C>G	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.270G>C	11.37:g.55681789C>G	ENSP00000342448:p.Lys90Asn						p.K90N	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			1	270	-			90			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000344514.1	37	c.270G>C	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	C	3.478	-0.106589	0.06924	.	.	ENSG00000187612	ENST00000344514	T	0.38240	1.15	5.01	-5.42	0.02640	GPCR, rhodopsin-like superfamily (1);	0.527095	0.15734	N	0.247281	T	0.23806	0.0576	L	0.60845	1.875	0.09310	N	1	B	0.15141	0.012	B	0.19946	0.027	T	0.18681	-1.0329	10	0.31617	T	0.26	.	2.25	0.04041	0.2434:0.4021:0.1188:0.2357	.	90	Q8NH69	OR5W2_HUMAN	N	90	ENSP00000342448:K90N	ENSP00000342448:K90N	K	-	3	2	OR5W2	55438365	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.872000	0.00720	-1.563000	0.01680	-0.311000	0.09066	AAG		PASS	0.448	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		16	35	16	35	---	---	---	---
OR8K3	219473	broad.mit.edu	37	11	56086487	56086487	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr11:56086487G>T	ENST00000312711.1	+	1	705	c.705G>T	c.(703-705)aaG>aaT	p.K235N		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K235N(2)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GCAGACAAAAGGCTTTTTCTA	0.433																																						uc010rjf.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(703-705)AAG>AAT		olfactory receptor, family 8, subfamily K,							97.0	92.0	94.0					11																	56086487		2201	4296	6497	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56086487G>T	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.705G>T	11.37:g.56086487G>T	ENSP00000323555:p.Lys235Asn						p.K235N	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			1	705	+	Esophageal squamous(21;0.00448)		235			Cytoplasmic (Potential).		Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.705G>T	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.297181	0.23650	.	.	ENSG00000181689	ENST00000312711	T	0.00374	7.72	4.28	-1.66	0.08265	GPCR, rhodopsin-like superfamily (1);	0.094558	0.46145	D	0.000314	T	0.01387	0.0045	H	0.97214	3.96	0.28451	N	0.916356	D	0.76494	0.999	D	0.85130	0.997	T	0.06373	-1.0830	10	0.87932	D	0	.	10.8094	0.46538	0.5213:0.0:0.4787:0.0	.	235	Q8NH51	OR8K3_HUMAN	N	235	ENSP00000323555:K235N	ENSP00000323555:K235N	K	+	3	2	OR8K3	55843063	0.931000	0.31567	0.394000	0.26270	0.019000	0.09904	-0.071000	0.11505	-0.174000	0.10743	-0.373000	0.07131	AAG		PASS	0.433	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		16	38	16	38	---	---	---	---
OR8K1	390157	broad.mit.edu	37	11	56113662	56113662	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr11:56113662G>T	ENST00000279783.2	+	1	242	c.148G>T	c.(148-150)Ggc>Tgc	p.G50C		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G50C(1)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					AGGCAATCTGGGCATGGTTAT	0.448										HNSCC(65;0.19)																												uc010rjg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(148-150)GGC>TGC		olfactory receptor, family 8, subfamily K,							164.0	143.0	150.0					11																	56113662		2201	4296	6497	SO:0001583	missense	390157				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56113662G>T	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.148G>T	11.37:g.56113662G>T	ENSP00000279783:p.Gly50Cys	HNSCC(65;0.19)					p.G50C	NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN			1	148	+	Esophageal squamous(21;0.00448)		50			Helical; Name=1; (Potential).		B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	ENST00000279783.2	37	c.148G>T	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723766	0.48728	.	.	ENSG00000150261	ENST00000279783	T	0.01084	5.36	5.0	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000133	T	0.05181	0.0138	M	0.81179	2.53	0.20563	N	0.999889	D	0.89917	1.0	D	0.79108	0.992	T	0.14504	-1.0470	10	0.72032	D	0.01	-3.7228	5.1499	0.15004	0.1532:0.3682:0.4786:0.0	.	50	Q8NGG5	OR8K1_HUMAN	C	50	ENSP00000279783:G50C	ENSP00000279783:G50C	G	+	1	0	OR8K1	55870238	0.001000	0.12720	0.999000	0.59377	0.705000	0.40729	1.001000	0.29783	2.297000	0.77311	0.549000	0.68633	GGC		PASS	0.448	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		10	68	10	68	---	---	---	---
TMEM132A	54972	broad.mit.edu	37	11	60696322	60696322	+	Silent	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr11:60696322G>T	ENST00000453848.2	+	4	914	c.756G>T	c.(754-756)ctG>ctT	p.L252L	TMEM132A_ENST00000005286.4_Silent_p.L252L			Q24JP5	T132A_HUMAN	transmembrane protein 132A	252						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.L252L(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						AGGTACCTCTGGACGAGGCTG	0.677																																						uc001nqj.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(754-756)CTG>CTT		transmembrane protein 132A isoform b							31.0	33.0	32.0					11																	60696322		2201	4298	6499	SO:0001819	synonymous_variant	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60696322G>T	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.756G>T	11.37:g.60696322G>T						TMEM132A_uc001nqi.2_Silent_p.L252L|TMEM132A_uc001nqk.2_Silent_p.L265L|TMEM132A_uc001nql.1_Silent_p.L265L	p.L252L	NM_178031	NP_821174	Q24JP5	T132A_HUMAN			4	949	+			252			Extracellular (Potential).		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Silent	SNP	ENST00000453848.2	37	c.756G>T	CCDS44618.1																																																																																				PASS	0.677	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		9	24	9	24	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62298384	62298384	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr11:62298384C>A	ENST00000378024.4	-	5	3779	c.3505G>T	c.(3505-3507)Gtg>Ttg	p.V1169L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1169					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.V1169L(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCGAGGCTCACATCTGGGGCT	0.542																																						uc001ntl.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(3505-3507)GTG>TTG		AHNAK nucleoprotein isoform 1							162.0	160.0	160.0					11																	62298384		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62298384C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3505G>T	11.37:g.62298384C>A	ENSP00000367263:p.Val1169Leu					AHNAK_uc001ntk.1_Intron	p.V1169L	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	3805	-		Melanoma(852;0.155)	1169					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.3505G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	0.481	-0.879663	0.02530	.	.	ENSG00000124942	ENST00000378024	T	0.01215	5.16	4.99	4.08	0.47627	.	0.976025	0.08327	N	0.962949	T	0.01661	0.0053	L	0.46614	1.455	0.19300	N	0.99998	B	0.16603	0.018	B	0.19148	0.024	T	0.50189	-0.8857	10	0.19590	T	0.45	.	9.6028	0.39615	0.0:0.7788:0.1424:0.0788	.	1169	Q09666	AHNK_HUMAN	L	1169	ENSP00000367263:V1169L	ENSP00000367263:V1169L	V	-	1	0	AHNAK	62054960	0.000000	0.05858	0.958000	0.39756	0.176000	0.22953	-0.528000	0.06193	1.119000	0.41883	0.645000	0.84053	GTG		PASS	0.542	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		30	143	30	143	---	---	---	---
CFL1	1072	broad.mit.edu	37	11	65623490	65623490	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr11:65623490G>A	ENST00000525451.2	-	3	942	c.227C>T	c.(226-228)cCa>cTa	p.P76L	CFL1_ENST00000531413.1_Missense_Mutation_p.P59L|CFL1_ENST00000308162.5_Missense_Mutation_p.P76L|CFL1_ENST00000527344.1_Missense_Mutation_p.P59L|CFL1_ENST00000534769.1_Missense_Mutation_p.P114L|CFL1_ENST00000531407.1_Missense_Mutation_p.P59L|CFL1_ENST00000524553.1_Missense_Mutation_p.P59L			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	76	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin cytoskeleton organization (GO:0030036)|actin filament depolymerization (GO:0030042)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytoskeleton organization (GO:0007010)|establishment of cell polarity (GO:0030010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|mitotic cytokinesis (GO:0000281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell size (GO:0045792)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of actin filament depolymerization (GO:0030836)|protein import into nucleus (GO:0006606)|protein phosphorylation (GO:0006468)|regulation of cell morphogenesis (GO:0022604)|response to amino acid (GO:0043200)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P76L(1)		breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		GTCCTTATCTGGCAGCATCTT	0.537																																					Esophageal Squamous(90;820 1366 3932 32351 42291)	uc001ofs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(226-228)CCA>CTA		cofilin 1 (non-muscle)							165.0	149.0	154.0					11																	65623490		2201	4297	6498	SO:0001583	missense	1072				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr11:65623490G>A	X95404	CCDS8114.1	11q13.1	2010-12-03			ENSG00000172757	ENSG00000172757			1874	protein-coding gene	gene with protein product		601442		CFL		8800436	Standard	NM_005507		Approved		uc001ofs.3	P23528		ENST00000525451.2:c.227C>T	11.37:g.65623490G>A	ENSP00000432660:p.Pro76Leu					CFL1_uc001oft.2_Missense_Mutation_p.P76L|CFL1_uc001ofu.2_3'UTR	p.P76L	NM_005507	NP_005498	P23528	COF1_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	2	461	-			76			ADF-H.		B3KUQ1|Q53Y87|Q9UCA2	Missense_Mutation	SNP	ENST00000525451.2	37	c.227C>T	CCDS8114.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678334	0.88542	.	.	ENSG00000172757	ENST00000525451;ENST00000308162;ENST00000527344;ENST00000531407;ENST00000524553;ENST00000534769;ENST00000531413;ENST00000532134;ENST00000530413;ENST00000534784;ENST00000526975	D;D;D;D;D;D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	3.72	3.72	0.42706	Actin-binding, cofilin/tropomyosin type (3);	0.061993	0.64402	D	0.000004	D	0.90903	0.7141	M	0.88512	2.96	0.80722	D	1	P	0.45212	0.853	P	0.53006	0.715	D	0.92724	0.6194	10	0.87932	D	0	.	13.8226	0.63331	0.0:0.0:1.0:0.0	.	76	P23528	COF1_HUMAN	L	76;76;59;59;59;114;59;76;59;59;76	ENSP00000432660:P76L;ENSP00000309629:P76L;ENSP00000432155:P59L;ENSP00000433910:P59L;ENSP00000432226:P59L;ENSP00000431696:P114L;ENSP00000433131:P59L;ENSP00000436431:P76L;ENSP00000436899:P59L;ENSP00000433308:P59L;ENSP00000432153:P76L	ENSP00000309629:P76L	P	-	2	0	CFL1	65380066	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.770000	0.85390	2.368000	0.80403	0.655000	0.94253	CCA		PASS	0.537	CFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390701.3	NM_005507		12	92	12	92	---	---	---	---
RSF1	51773	broad.mit.edu	37	11	77412453	77412453	+	Silent	SNP	T	T	C			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr11:77412453T>C	ENST00000308488.6	-	6	2123	c.1821A>G	c.(1819-1821)ccA>ccG	p.P607P	RSF1_ENST00000360355.2_Silent_p.P576P|RSF1_ENST00000480887.1_Silent_p.P355P			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	607					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.P607P(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GAACTTCTTCTGGTATTGGAC	0.423																																						uc001oyn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(1819-1821)CCA>CCG		remodeling and spacing factor 1							108.0	111.0	110.0					11																	77412453		2200	4292	6492	SO:0001819	synonymous_variant	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77412453T>C	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.1821A>G	11.37:g.77412453T>C						RSF1_uc001oym.2_Silent_p.P355P	p.P607P	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		6	1941	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		607					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Silent	SNP	ENST00000308488.6	37	c.1821A>G	CCDS8253.1																																																																																				PASS	0.423	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		49	76	49	76	---	---	---	---
NXPE4	54827	broad.mit.edu	37	11	114441738	114441738	+	Silent	SNP	T	T	C			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr11:114441738T>C	ENST00000375478.3	-	6	1737	c.1557A>G	c.(1555-1557)gcA>gcG	p.A519A	NXPE4_ENST00000424261.2_Silent_p.A235A	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	519						extracellular vesicular exosome (GO:0070062)		p.A519A(1)									TTGTGCCATATGCAATTGTTA	0.318																																						uc001ppc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(1555-1557)GCA>GCG		hypothetical protein LOC54827 isoform 1							138.0	122.0	127.0					11																	114441738		1867	4100	5967	SO:0001819	synonymous_variant	54827					extracellular region		g.chr11:114441738T>C	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.1557A>G	11.37:g.114441738T>C						FAM55D_uc001ppd.2_Silent_p.A235A	p.A519A	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)	6	1738	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	519					Q6QDB4|Q9NXP5	Silent	SNP	ENST00000375478.3	37	c.1557A>G	CCDS41718.1																																																																																				PASS	0.318	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		28	47	28	47	---	---	---	---
ZNF202	7753	broad.mit.edu	37	11	123599838	123599838	+	Nonsense_Mutation	SNP	G	G	C			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr11:123599838G>C	ENST00000529691.1	-	4	917	c.698C>G	c.(697-699)tCa>tGa	p.S233*	ZNF202_ENST00000336139.4_Nonsense_Mutation_p.S233*|ZNF202_ENST00000530393.1_Nonsense_Mutation_p.S233*			O95125	ZN202_HUMAN	zinc finger protein 202	233					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S233*(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		GCACACCTGTGACAGAGCAGT	0.493																																						uc001pzd.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(697-699)TCA>TGA		zinc finger protein 202							86.0	72.0	77.0					11																	123599838		2202	4299	6501	SO:0001587	stop_gained	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123599838G>C	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.698C>G	11.37:g.123599838G>C	ENSP00000433881:p.Ser233*					ZNF202_uc001pzc.1_Nonsense_Mutation_p.S9*|ZNF202_uc001pze.1_Nonsense_Mutation_p.S233*|ZNF202_uc001pzf.1_Nonsense_Mutation_p.S233*	p.S233*	NM_003455	NP_003446	O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	6	1098	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	233					B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Nonsense_Mutation	SNP	ENST00000529691.1	37	c.698C>G	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	G	37	6.617427	0.97709	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	.	.	.	5.42	5.42	0.78866	.	0.000000	0.38164	N	0.001791	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-11.5331	14.73	0.69374	0.0:0.0:1.0:0.0	.	.	.	.	X	233	.	ENSP00000337724:S233X	S	-	2	0	ZNF202	123105048	0.999000	0.42202	0.696000	0.30242	0.790000	0.44656	4.979000	0.63806	2.540000	0.85666	0.557000	0.71058	TCA		PASS	0.493	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		7	9	7	9	---	---	---	---
OR8A1	390275	broad.mit.edu	37	11	124440091	124440091	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr11:124440091C>A	ENST00000284287.3	+	1	199	c.127C>A	c.(127-129)Ccc>Acc	p.P43T		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	43					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P43T(1)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CCTCCAGCTCCCCCTCTTTCT	0.532																																						uc010san.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(127-129)CCC>ACC		olfactory receptor, family 8, subfamily A,							100.0	93.0	95.0					11																	124440091		2201	4299	6500	SO:0001583	missense	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440091C>A	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.127C>A	11.37:g.124440091C>A	ENSP00000284287:p.Pro43Thr						p.P43T	NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	127	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	43			Extracellular (Potential).		Q6IEW7|Q96RC6	Missense_Mutation	SNP	ENST00000284287.3	37	c.127C>A	CCDS31712.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796732	0.50208	.	.	ENSG00000196119	ENST00000284287	T	0.00424	7.45	5.08	5.08	0.68730	.	0.000000	0.45361	D	0.000380	T	0.00608	0.0020	L	0.55834	1.745	0.34038	D	0.654707	P	0.52061	0.95	P	0.54590	0.756	T	0.64516	-0.6389	10	0.87932	D	0	.	9.0355	0.36284	0.0:0.8374:0.0:0.1626	.	43	Q8NGG7	OR8A1_HUMAN	T	43	ENSP00000284287:P43T	ENSP00000284287:P43T	P	+	1	0	OR8A1	123945301	0.000000	0.05858	0.998000	0.56505	0.767000	0.43475	-1.144000	0.03197	2.636000	0.89361	0.585000	0.79938	CCC		PASS	0.532	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		16	30	16	30	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	990939	990939	+	Missense_Mutation	SNP	G	G	A	rs369772732		TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr12:990939G>A	ENST00000315939.6	+	13	3836	c.3193G>A	c.(3193-3195)Gct>Act	p.A1065T	WNK1_ENST00000340908.4_Missense_Mutation_p.A658T|WNK1_ENST00000537687.1_Missense_Mutation_p.A1325T|WNK1_ENST00000530271.2_Missense_Mutation_p.A1563T|WNK1_ENST00000535572.1_Missense_Mutation_p.A818T	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1065					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.A1325T(1)|p.A1065T(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GACCACTTTGGCTTCCTCTGT	0.458																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3																			2	Substitution - Missense(2)		lung(2)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(3193-3195)GCT>ACT		WNK lysine deficient protein kinase 1							96.0	98.0	97.0					12																	990939		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:990939G>A	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.3193G>A	12.37:g.990939G>A	ENSP00000313059:p.Ala1065Thr					WNK1_uc001qip.3_Missense_Mutation_p.A818T|WNK1_uc001qir.3_Missense_Mutation_p.A238T	p.A1065T	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		13	3700	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1065					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.3193G>A	CCDS8506.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.30|15.30	2.794000|2.794000	0.50102|0.50102	.|.	.|.	ENSG00000060237|ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908;ENST00000534872|ENST00000544965	T;T;T;T;T;T|.	0.45276|.	1.56;1.56;1.56;1.56;1.56;0.9|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.333020|.	0.25598|.	N|.	0.029568|.	T|T	0.53965|0.53965	0.1829|0.1829	N|N	0.19112|0.19112	0.55|0.55	0.41612|0.41612	D|D	0.988912|0.988912	B;B;B|.	0.26845|.	0.161;0.161;0.1|.	B;B;B|.	0.27380|.	0.079;0.079;0.036|.	T|T	0.47947|0.47947	-0.9077|-0.9077	10|5	0.25751|.	T|.	0.34|.	-3.001|-3.001	18.3801|18.3801	0.90448|0.90448	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	818;818;1065|.	Q9H4A3-2;F5GWT4;Q9H4A3|.	.;.;WNK1_HUMAN|.	T|D	818;1065;1325;238;1563;658;4|141	ENSP00000441972:A818T;ENSP00000313059:A1065T;ENSP00000444465:A1325T;ENSP00000433548:A1563T;ENSP00000341292:A658T;ENSP00000446253:A4T|.	ENSP00000252477:A238T|.	A|G	+|+	1|2	0|0	WNK1|WNK1	861200|861200	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.479000|0.479000	0.33129|0.33129	5.290000|5.290000	0.65661|0.65661	2.776000|2.776000	0.95493|0.95493	0.650000|0.650000	0.86243|0.86243	GCT|GGC		PASS	0.458	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		16	54	16	54	---	---	---	---
GDF3	9573	broad.mit.edu	37	12	7848323	7848323	+	Start_Codon_SNP	SNP	A	A	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr12:7848323A>G	ENST00000329913.3	-	1	49	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	1					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)	p.M1T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GAAACGAAGCATGGCCTCTGG	0.478																																						uc001qte.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(1-3)ATG>ACG		growth differentiation factor 3 precursor							31.0	31.0	31.0					12																	7848323		2203	4300	6503	SO:0001582	initiator_codon_variant	9573				eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:7848323A>G	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"""Endogenous ligands"""	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.2T>C	12.37:g.7848323A>G	ENSP00000331745:p.Met1Thr						p.M1T	NM_020634	NP_065685	Q9NR23	GDF3_HUMAN			1	38	-			1					Q8NEJ4	Missense_Mutation	SNP	ENST00000329913.3	37	c.2T>C	CCDS8581.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.904384	0.33628	.	.	ENSG00000184344	ENST00000329913	T	0.80824	-1.42	4.28	4.28	0.50868	.	0.343559	0.11045	U	0.605653	D	0.88123	0.6352	.	.	.	0.80722	D	1	D	0.65815	0.995	D	0.67231	0.95	D	0.86070	0.1537	9	0.87932	D	0	.	10.1136	0.42576	1.0:0.0:0.0:0.0	.	1	Q9NR23	GDF3_HUMAN	T	1	ENSP00000331745:M1T	ENSP00000331745:M1T	M	-	2	0	GDF3	7739590	0.373000	0.25073	0.983000	0.44433	0.024000	0.10985	1.450000	0.35134	1.698000	0.51180	0.460000	0.39030	ATG		PASS	0.478	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1		Missense_Mutation	3	15	3	15	---	---	---	---
ANO6	196527	broad.mit.edu	37	12	45823018	45823018	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr12:45823018T>C	ENST00000320560.8	+	20	2859	c.2657T>C	c.(2656-2658)aTg>aCg	p.M886T	ANO6_ENST00000435642.1_Intron|ANO6_ENST00000441606.2_Missense_Mutation_p.M868T|ANO6_ENST00000425752.2_Intron|ANO6_ENST00000423947.3_Missense_Mutation_p.M907T	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	886					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)	p.M886T(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTCAAAGATATGACGAAAAAT	0.388																																						uc001roo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(2656-2658)ATG>ACG		anoctamin 6 isoform a							54.0	52.0	53.0					12																	45823018		2203	4300	6503	SO:0001583	missense	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45823018T>C	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.2657T>C	12.37:g.45823018T>C	ENSP00000320087:p.Met886Thr					ANO6_uc010sld.1_Intron|ANO6_uc010sle.1_Intron|ANO6_uc010slf.1_Missense_Mutation_p.M907T|ANO6_uc010slg.1_Missense_Mutation_p.M868T	p.M886T	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN			20	2992	+			886			Cytoplasmic (Potential).		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	c.2657T>C	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.757366	0.49468	.	.	ENSG00000177119	ENST00000423947;ENST00000320560;ENST00000441606	T;T;T	0.68025	-0.3;-0.29;-0.29	5.45	5.45	0.79879	.	0.488835	0.23539	N	0.047100	T	0.48660	0.1512	N	0.08118	0	0.80722	D	1	B;B;B	0.19583	0.037;0.019;0.031	B;B;B	0.20184	0.028;0.017;0.011	T	0.42916	-0.9423	10	0.31617	T	0.26	.	16.226	0.82293	0.0:0.0:0.0:1.0	.	868;907;886	E9PB30;B9EGG0;Q4KMQ2	.;.;ANO6_HUMAN	T	907;886;868	ENSP00000409126:M907T;ENSP00000320087:M886T;ENSP00000413137:M868T	ENSP00000320087:M886T	M	+	2	0	ANO6	44109285	1.000000	0.71417	0.842000	0.33263	0.871000	0.50021	6.326000	0.72905	2.371000	0.80710	0.533000	0.62120	ATG		PASS	0.388	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		12	21	12	21	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46320550	46320550	+	Silent	SNP	T	T	C			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr12:46320550T>C	ENST00000369367.3	-	11	3167	c.2934A>G	c.(2932-2934)ccA>ccG	p.P978P	SCAF11_ENST00000549162.1_Silent_p.P786P|SCAF11_ENST00000419565.2_Silent_p.P978P|SCAF11_ENST00000465950.1_Silent_p.P663P|SCAF11_ENST00000550629.1_5'Flank	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	978	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P978P(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CATTTCCTCGTGGACATCTCC	0.388																																						uc001rox.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2932-2934)CCA>CCG		splicing factor, arginine/serine-rich 2,							213.0	202.0	205.0					12																	46320550		2203	4300	6503	SO:0001819	synonymous_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320550T>C	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2934A>G	12.37:g.46320550T>C						SFRS2IP_uc001row.2_Silent_p.P663P|SFRS2IP_uc001roy.1_Silent_p.P1052P	p.P978P	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)	11	3221	-	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	978			Arg-rich.		A6NEU9|A6NLW5|Q8IW59	Silent	SNP	ENST00000369367.3	37	c.2934A>G	CCDS8748.2																																																																																				PASS	0.388	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		49	127	49	127	---	---	---	---
VDR	7421	broad.mit.edu	37	12	48249545	48249545	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr12:48249545C>A	ENST00000395324.2	-	7	891	c.623G>T	c.(622-624)aGt>aTt	p.S208I	VDR_ENST00000229022.3_Missense_Mutation_p.S208I|VDR_ENST00000535672.1_Missense_Mutation_p.S176I|VDR_ENST00000550325.1_Missense_Mutation_p.S258I|VDR_ENST00000549336.1_Missense_Mutation_p.S208I			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	208	Ligand-binding.				bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S208I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	ATCTTCTTCACTCAGATCCAG	0.532																																						uc001rqm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(622-624)AGT>ATT		vitamin D (1,25-dihydroxyvitamin D3) receptor	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						73.0	69.0	70.0					12																	48249545		2203	4300	6503	SO:0001583	missense	7421				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	g.chr12:48249545C>A	J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"""Nuclear hormone receptors"""	12679	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 163"""	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.623G>T	12.37:g.48249545C>A	ENSP00000378734:p.Ser208Ile					VDR_uc001rql.2_Missense_Mutation_p.S258I|VDR_uc001rqn.2_Missense_Mutation_p.S208I|VDR_uc010slq.1_Missense_Mutation_p.S176I	p.S208I	NM_001017535	NP_001017535	P11473	VDR_HUMAN		GBM - Glioblastoma multiforme(48;0.17)	8	905	-		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)	208			Ligand-binding.		B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	ENST00000395324.2	37	c.623G>T	CCDS8757.1	.	.	.	.	.	.	.	.	.	.	c	12.04	1.819712	0.32145	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000535672;ENST00000546653	D;D;D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57;-3.57;-3.57	5.14	-7.78	0.01223	Nuclear hormone receptor, ligand-binding (1);	3.527970	0.00567	N	0.000282	D	0.91761	0.7394	M	0.62723	1.935	0.09310	N	1	B;B;B	0.29909	0.091;0.143;0.261	B;B;B	0.32928	0.148;0.155;0.071	T	0.81258	-0.1014	10	0.19147	T	0.46	.	10.5537	0.45103	0.0:0.426:0.0895:0.4845	.	176;208;258	B4DRV7;P11473;G3V1V9	.;VDR_HUMAN;.	I	208;208;208;258;176;208	ENSP00000378734:S208I;ENSP00000229022:S208I;ENSP00000449573:S208I;ENSP00000447173:S258I;ENSP00000442145:S176I;ENSP00000448659:S208I	ENSP00000229022:S208I	S	-	2	0	VDR	46535812	0.000000	0.05858	0.000000	0.03702	0.241000	0.25554	-1.373000	0.02568	-1.460000	0.01911	-1.139000	0.01908	AGT		PASS	0.532	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			10	29	10	29	---	---	---	---
TFCP2	7024	broad.mit.edu	37	12	51504759	51504759	+	Silent	SNP	C	C	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr12:51504759C>A	ENST00000257915.5	-	5	923	c.465G>T	c.(463-465)ccG>ccT	p.P155P	TFCP2_ENST00000307660.4_Silent_p.P155P|TFCP2_ENST00000548115.1_Silent_p.P155P|TFCP2_ENST00000549867.1_Silent_p.P155P	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	155	DNA-binding.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P155P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						CCACAGACATCGGGATATCTG	0.388																																						uc001rxw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(463-465)CCG>CCT		transcription factor CP2							140.0	136.0	137.0					12																	51504759		2203	4300	6503	SO:0001819	synonymous_variant	7024				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:51504759C>A	U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.465G>T	12.37:g.51504759C>A						TFCP2_uc001rxv.1_Silent_p.P155P|TFCP2_uc009zlx.1_Silent_p.P155P|TFCP2_uc001rxx.2_Silent_p.P155P|TFCP2_uc009zly.1_Silent_p.P57P	p.P155P	NM_005653	NP_005644	Q12800	TFCP2_HUMAN			5	924	-			155			DNA-binding.		A8K5E9|Q12801|Q9UD75|Q9UD77	Silent	SNP	ENST00000257915.5	37	c.465G>T	CCDS8808.1																																																																																				PASS	0.388	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653		22	83	22	83	---	---	---	---
EIF4B	1975	broad.mit.edu	37	12	53428431	53428431	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr12:53428431G>T	ENST00000262056.9	+	10	1570	c.1244G>T	c.(1243-1245)cGg>cTg	p.R415L	EIF4B_ENST00000416762.3_Missense_Mutation_p.R376L|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.R415L	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	415					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)	p.R415L(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						ACTCAGGAACGGGAACGGTCG	0.507																																						uc001sbh.3																			1	Substitution - Missense(1)		lung(1)	breast(1)|kidney(1)	2						c.(1243-1245)CGG>CTG		eukaryotic translation initiation factor 4B							148.0	151.0	150.0					12																	53428431		1963	4141	6104	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53428431G>T	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.1244G>T	12.37:g.53428431G>T	ENSP00000262056:p.Arg415Leu					EIF4B_uc010snu.1_Missense_Mutation_p.R415L|EIF4B_uc010snv.1_Missense_Mutation_p.R376L|EIF4B_uc001sbi.2_Missense_Mutation_p.R167L	p.R415L	NM_001417	NP_001408	P23588	IF4B_HUMAN			10	1450	+			415					Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.1244G>T	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390619	0.82902	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762	T;T;T	0.42131	0.98;0.98;0.98	4.11	4.11	0.48088	.	0.144227	0.37483	N	0.002067	T	0.49406	0.1555	L	0.44542	1.39	0.35220	D	0.775989	D;D;B;D	0.65815	0.995;0.992;0.223;0.992	P;P;B;P	0.60682	0.878;0.758;0.024;0.758	T	0.55140	-0.8187	10	0.33141	T	0.24	.	12.1547	0.54070	0.0:0.0:1.0:0.0	.	376;415;391;415	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	L	415;415;391;376	ENSP00000262056:R415L;ENSP00000388806:R415L;ENSP00000412530:R376L	ENSP00000262056:R415L	R	+	2	0	EIF4B	51714698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.519000	0.53458	2.570000	0.86706	0.585000	0.79938	CGG		PASS	0.507	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		8	49	8	49	---	---	---	---
CFAP54	144535	broad.mit.edu	37	12	97137324	97137324	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr12:97137324T>C	ENST00000524981.4	+	53	7387	c.7364T>C	c.(7363-7365)aTg>aCg	p.M2455T				Q96N23	CL055_HUMAN		0								p.M880T(1)									GCAGACATCATGACAAACCTT	0.423																																						uc001tet.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(1)	7						c.(2638-2640)ATG>ACG		hypothetical protein LOC374467							93.0	89.0	90.0					12																	97137324		2203	4300	6503	SO:0001583	missense	374467							g.chr12:97137324T>C																												ENST00000524981.4:c.7364T>C	12.37:g.97137324T>C	ENSP00000431759:p.Met2455Thr						p.M880T	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			20	2717	+			880						Missense_Mutation	SNP	ENST00000524981.4	37	c.2639T>C		.	.	.	.	.	.	.	.	.	.	T	11.02	1.515207	0.27123	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.72	5.72	0.89469	.	0.256774	0.32884	N	0.005534	T	0.22859	0.0552	N	0.08118	0	0.22918	N	0.998561	B	0.02656	0.0	B	0.01281	0.0	T	0.11012	-1.0605	9	0.39692	T	0.17	-10.6685	9.3853	0.38338	0.1694:0.0:0.0:0.8306	.	880	Q6ZTY8	CL063_HUMAN	T	2455;880	.	ENSP00000345466:M880T	M	+	2	0	C12orf63	95661455	0.990000	0.36364	0.947000	0.38551	0.970000	0.65996	3.589000	0.53972	2.180000	0.69256	0.459000	0.35465	ATG		PASS	0.423	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			6	30	6	30	---	---	---	---
OAS3	4940	broad.mit.edu	37	12	113388514	113388514	+	Missense_Mutation	SNP	G	G	A	rs371605991		TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr12:113388514G>A	ENST00000228928.7	+	7	1570	c.1391G>A	c.(1390-1392)cGg>cAg	p.R464Q	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	464	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)	p.R464Q(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TCATTTGGCCGGGGCACAGAC	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19315	0.0		0.0	False		,,,				2504	0.0					uc001tug.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1390-1392)CGG>CAG		2'-5'oligoadenylate synthetase 3		G	GLN/ARG	4,3852		0,4,1924	123.0	130.0	128.0		1391	3.4	1.0	12		128	0,8266		0,0,4133	no	missense	OAS3	NM_006187.2	43	0,4,6057	AA,AG,GG		0.0,0.1037,0.033	probably-damaging	464/1088	113388514	4,12118	1928	4133	6061	SO:0001583	missense	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113388514G>A	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.1391G>A	12.37:g.113388514G>A	ENSP00000228928:p.Arg464Gln						p.R464Q	NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN			7	1478	+			464			OAS domain 2.		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	c.1391G>A	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.416758	0.62511	0.001037	0.0	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.13901	2.55	4.26	3.37	0.38596	2-5-oligoadenylate synthetase, N-terminal (1);2-5-oligoadenylate synthetase, conserved site (1);	.	.	.	.	T	0.31827	0.0809	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.02639	-1.1130	9	0.72032	D	0.01	.	7.7329	0.28797	0.1156:0.0:0.8844:0.0	.	464	Q9Y6K5	OAS3_HUMAN	Q	464;463	ENSP00000228928:R464Q	ENSP00000228928:R464Q	R	+	2	0	OAS3	111872897	0.991000	0.36638	0.999000	0.59377	0.619000	0.37552	0.765000	0.26546	1.006000	0.39211	0.655000	0.94253	CGG		PASS	0.592	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			9	113	9	113	---	---	---	---
ABCB9	23457	broad.mit.edu	37	12	123419863	123419863	+	Missense_Mutation	SNP	T	T	C			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr12:123419863T>C	ENST00000542678.1	-	10	4697	c.1859A>G	c.(1858-1860)aAt>aGt	p.N620S	ABCB9_ENST00000442833.2_Missense_Mutation_p.N620S|ABCB9_ENST00000280560.8_Missense_Mutation_p.N620S|ABCB9_ENST00000392439.3_Missense_Mutation_p.N620S|ABCB9_ENST00000540285.1_Missense_Mutation_p.N557S|ABCB9_ENST00000442028.2_Missense_Mutation_p.N620S|ABCB9_ENST00000344275.7_Missense_Mutation_p.N620S|ABCB9_ENST00000346530.5_Missense_Mutation_p.N577S			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	620	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)	p.N620S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GCCGTGGGCATTGGCCTTCTG	0.637																																					Ovarian(49;786 1333 9175 38236)	uc001udm.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1858-1860)AAT>AGT		ATP-binding cassette, sub-family B (MDR/TAP),							80.0	57.0	65.0					12																	123419863		2203	4300	6503	SO:0001583	missense	23457				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr12:123419863T>C	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.1859A>G	12.37:g.123419863T>C	ENSP00000440288:p.Asn620Ser					ABCB9_uc010tai.1_Missense_Mutation_p.N227S|ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Missense_Mutation_p.N577S|ABCB9_uc010taj.1_Missense_Mutation_p.N557S|ABCB9_uc001udp.2_Missense_Mutation_p.N620S|ABCB9_uc001udq.2_Missense_Mutation_p.N339S	p.N620S	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)	10	2169	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		620			ABC transporter.		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	c.1859A>G	CCDS9241.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.431095	0.62844	.	.	ENSG00000150967	ENST00000280560;ENST00000540285;ENST00000346530;ENST00000392439;ENST00000542678;ENST00000442028;ENST00000546289;ENST00000542448	D;D;D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-2.68	5.03	5.03	0.67393	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.93585	0.7952	L	0.27053	0.805	0.53005	D	0.999963	D;P;P;P;D	0.61697	0.964;0.932;0.902;0.467;0.99	P;P;P;B;D	0.65573	0.812;0.725;0.489;0.445;0.936	D	0.94686	0.7870	10	0.87932	D	0	-10.2514	14.7534	0.69546	0.0:0.0:0.0:1.0	.	557;227;339;577;620	B4E2J0;B4DFR8;B3KNJ8;Q9NP78-2;Q9NP78	.;.;.;.;ABCB9_HUMAN	S	620;557;577;620;620;620;164;246	ENSP00000280560:N620S;ENSP00000441734:N557S;ENSP00000280559:N577S;ENSP00000376234:N620S;ENSP00000440288:N620S;ENSP00000394898:N620S;ENSP00000442281:N164S;ENSP00000440244:N246S	ENSP00000280560:N620S	N	-	2	0	ABCB9	121985816	1.000000	0.71417	0.932000	0.37286	0.433000	0.31745	5.036000	0.64164	1.869000	0.54173	0.460000	0.39030	AAT		PASS	0.637	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		5	21	5	21	---	---	---	---
TMEM132B	114795	broad.mit.edu	37	12	126004126	126004126	+	Silent	SNP	C	C	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr12:126004126C>A	ENST00000299308.3	+	4	1241	c.1233C>A	c.(1231-1233)atC>atA	p.I411I		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	411						integral component of membrane (GO:0016021)		p.I411I(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCTCCGAGATCTTCGTCAGCC	0.517																																						uc001uhe.1																			1	Substitution - coding silent(1)		lung(1)	skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(1231-1233)ATC>ATA		transmembrane protein 132B							101.0	101.0	101.0					12																	126004126		1961	4138	6099	SO:0001819	synonymous_variant	114795					integral to membrane		g.chr12:126004126C>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1233C>A	12.37:g.126004126C>A							p.I411I	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	4	1241	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		411			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	c.1233C>A	CCDS41859.1																																																																																				PASS	0.517	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		4	52	4	52	---	---	---	---
RIMBP2	23504	broad.mit.edu	37	12	130922965	130922965	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr12:130922965C>A	ENST00000261655.4	-	9	1713	c.1550G>T	c.(1549-1551)gGg>gTg	p.G517V	RIMBP2_ENST00000536002.1_Missense_Mutation_p.G425V|RIMBP2_ENST00000535703.1_Missense_Mutation_p.G425V	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	517	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.G517V(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ATTGGACAGCCCGGTGGGCGT	0.637																																						uc001uil.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(1549-1551)GGG>GTG		RIM-binding protein 2							49.0	45.0	46.0					12																	130922965		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130922965C>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1550G>T	12.37:g.130922965C>A	ENSP00000261655:p.Gly517Val					RIMBP2_uc001uim.2_Missense_Mutation_p.G425V|RIMBP2_uc001uin.1_Missense_Mutation_p.G176V	p.G517V	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	9	1714	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	517			Fibronectin type-III 3.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.1550G>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417298	0.62622	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.59906	0.23;0.23;0.23	4.99	4.99	0.66335	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.78886	0.4354	M	0.83603	2.65	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	0.82760	-0.0298	10	0.87932	D	0	-37.9001	18.2635	0.90044	0.0:1.0:0.0:0.0	.	425;425;517	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	V	517;425;425;425	ENSP00000261655:G517V;ENSP00000440347:G425V;ENSP00000439159:G425V	ENSP00000261655:G517V	G	-	2	0	RIMBP2	129488918	1.000000	0.71417	0.945000	0.38365	0.012000	0.07955	7.457000	0.80775	2.319000	0.78375	0.555000	0.69702	GGG		PASS	0.637	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		6	17	6	17	---	---	---	---
MTMR6	9107	broad.mit.edu	37	13	25841966	25841966	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr13:25841966T>A	ENST00000381801.5	-	3	1016	c.255A>T	c.(253-255)gaA>gaT	p.E85D	MTMR6_ENST00000540661.1_Missense_Mutation_p.E85D	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	85					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.E85D(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GGCAATCTCTTTCTCTGGGAA	0.393																																						uc001uqf.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(253-255)GAA>GAT		myotubularin related protein 6							130.0	119.0	123.0					13																	25841966		2203	4300	6503	SO:0001583	missense	9107					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr13:25841966T>A	AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.255A>T	13.37:g.25841966T>A	ENSP00000371221:p.Glu85Asp					MTMR6_uc001uqe.1_Missense_Mutation_p.E85D	p.E85D	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)	3	574	-		Lung SC(185;0.0225)|Breast(139;0.0351)	85					B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	c.255A>T	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	T	12.91	2.078956	0.36662	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.82433	-1.61;-1.61	5.77	-1.3	0.09259	.	0.000000	0.85682	D	0.000000	T	0.75510	0.3859	L	0.50847	1.595	0.54753	D	0.999989	B;B	0.14012	0.009;0.008	B;B	0.20577	0.015;0.03	T	0.63795	-0.6556	10	0.31617	T	0.26	.	12.4606	0.55729	0.0:0.5573:0.0:0.4427	.	85;85	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	D	85	ENSP00000443161:E85D;ENSP00000371221:E85D	ENSP00000371221:E85D	E	-	3	2	MTMR6	24739966	0.999000	0.42202	0.997000	0.53966	0.993000	0.82548	0.526000	0.22971	-0.138000	0.11434	-0.361000	0.07541	GAA		PASS	0.393	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685		9	44	9	44	---	---	---	---
SLITRK1	114798	broad.mit.edu	37	13	84453702	84453702	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr13:84453702C>A	ENST00000377084.2	-	1	2826	c.1941G>T	c.(1939-1941)aaG>aaT	p.K647N		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	647					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.K647N(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TCTTGGACCGCTTTCGGTTCC	0.567																																						uc001vlk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(1939-1941)AAG>AAT		slit and trk like 1 protein precursor							82.0	69.0	73.0					13																	84453702		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84453702C>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1941G>T	13.37:g.84453702C>A	ENSP00000366288:p.Lys647Asn						p.K647N	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2827	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	647			Cytoplasmic (Potential).		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.1941G>T	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168831	0.57584	.	.	ENSG00000178235	ENST00000377084	T	0.62498	0.02	5.51	3.74	0.42951	.	0.000000	0.85682	D	0.000000	T	0.56202	0.1969	N	0.08118	0	0.49389	D	0.999787	D	0.67145	0.996	D	0.67900	0.954	T	0.60657	-0.7220	10	0.87932	D	0	-16.185	7.4125	0.27025	0.0:0.6583:0.0:0.3417	.	647	Q96PX8	SLIK1_HUMAN	N	647	ENSP00000366288:K647N	ENSP00000366288:K647N	K	-	3	2	SLITRK1	83351703	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.015000	0.29963	0.765000	0.33221	0.655000	0.94253	AAG		PASS	0.567	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		9	16	9	16	---	---	---	---
MYO16	23026	broad.mit.edu	37	13	109707450	109707450	+	Silent	SNP	A	A	G	rs143387670		TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr13:109707450A>G	ENST00000357550.2	+	25	3080	c.3039A>G	c.(3037-3039)ccA>ccG	p.P1013P	MYO16_ENST00000457511.2_Silent_p.P525P|MYO16_ENST00000356711.2_Silent_p.P1013P	NM_001198950.1	NP_001185879.1			myosin XVI									p.P1013P(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GAGGAGATCCAGTCACCATAG	0.328																																						uc001vqt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(3037-3039)CCA>CCG		myosin heavy chain Myr 8							73.0	73.0	73.0					13																	109707450		2203	4299	6502	SO:0001819	synonymous_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109707450A>G		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3039A>G	13.37:g.109707450A>G						MYO16_uc010agk.1_Silent_p.P1035P|MYO16_uc001vqu.1_Silent_p.P813P|MYO16_uc010tjh.1_Silent_p.P525P	p.P1013P	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		26	3165	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1013			Myosin head-like 2.			Silent	SNP	ENST00000357550.2	37	c.3039A>G	CCDS32008.1																																																																																				PASS	0.328	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		15	20	15	20	---	---	---	---
C14orf93	60686	broad.mit.edu	37	14	23465159	23465159	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr14:23465159A>G	ENST00000299088.6	-	3	1345	c.916T>C	c.(916-918)Tct>Cct	p.S306P	C14orf93_ENST00000397377.1_Missense_Mutation_p.S126P|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000397382.4_Missense_Mutation_p.S306P|C14orf93_ENST00000341470.4_Missense_Mutation_p.S306P|RP11-298I3.4_ENST00000557615.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.S306P|C14orf93_ENST00000397379.3_Missense_Mutation_p.S306P|RP11-298I3.4_ENST00000555294.1_RNA	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	306						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)	p.S306P(1)		kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		TCACTCACAGAGAGTACAAGA	0.493																																						uc001wib.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(916-918)TCT>CCT		hypothetical protein LOC60686 precursor							80.0	76.0	77.0					14																	23465159		2203	4300	6503	SO:0001583	missense	60686					extracellular region		g.chr14:23465159A>G	AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.916T>C	14.37:g.23465159A>G	ENSP00000299088:p.Ser306Pro					C14orf93_uc001wic.1_Missense_Mutation_p.S126P|C14orf93_uc001wid.1_Missense_Mutation_p.S306P|C14orf93_uc001wig.2_Missense_Mutation_p.S306P|C14orf93_uc001wih.2_Missense_Mutation_p.S306P|C14orf93_uc001wie.2_Missense_Mutation_p.S306P|C14orf93_uc001wia.3_Missense_Mutation_p.S306P|C14orf93_uc001wif.2_Missense_Mutation_p.S126P	p.S306P	NM_021944	NP_068763	Q9H972	CN093_HUMAN		GBM - Glioblastoma multiforme(265;0.0127)	3	1226	-	all_cancers(95;3.3e-05)		306					B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Missense_Mutation	SNP	ENST00000299088.6	37	c.916T>C	CCDS9583.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.657709	0.88154	.	.	ENSG00000100802	ENST00000299088;ENST00000341470;ENST00000397379;ENST00000397382;ENST00000397377;ENST00000406429;ENST00000397376	T;T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3;0.3	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000002	T	0.65964	0.2742	L	0.29908	0.895	0.39212	D	0.963349	D;D	0.76494	0.997;0.999	D;D	0.83275	0.991;0.996	T	0.71481	-0.4580	10	0.72032	D	0.01	-9.6523	14.5557	0.68100	1.0:0.0:0.0:0.0	.	306;306	Q9H972;Q9H972-2	CN093_HUMAN;.	P	306;306;306;306;126;306;126	ENSP00000299088:S306P;ENSP00000341353:S306P;ENSP00000380535:S306P;ENSP00000380538:S306P;ENSP00000380533:S126P;ENSP00000384768:S306P;ENSP00000380532:S126P	ENSP00000299088:S306P	S	-	1	0	C14orf93	22534999	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.129000	0.64739	2.092000	0.63282	0.529000	0.55759	TCT		PASS	0.493	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5	NM_021944		5	80	5	80	---	---	---	---
CEBPE	1053	broad.mit.edu	37	14	23588252	23588252	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr14:23588252G>A	ENST00000206513.5	-	1	573	c.49C>T	c.(49-51)Cca>Tca	p.P17S		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	17					cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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)	p.P17S(1)		large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		AACTCGAGTGGCTGCTGGCCA	0.692																																					NSCLC(63;1230 1818 14565 22565)	uc001wiv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(49-51)CCA>TCA		CCAAT/enhancer binding protein epsilon							18.0	22.0	20.0					14																	23588252		2197	4295	6492	SO:0001583	missense	1053					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23588252G>A		CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"""basic leucine zipper proteins"""	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.49C>T	14.37:g.23588252G>A	ENSP00000206513:p.Pro17Ser						p.P17S	NM_001805	NP_001796	Q15744	CEBPE_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)	1	223	-	all_cancers(95;4.6e-05)		17					Q15745|Q8IYI2|Q99803	Missense_Mutation	SNP	ENST00000206513.5	37	c.49C>T	CCDS9589.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522512	0.27211	.	.	ENSG00000092067	ENST00000206513	T	0.32753	1.44	4.24	4.24	0.50183	.	0.134965	0.49305	D	0.000144	T	0.23766	0.0575	L	0.31926	0.97	0.33274	D	0.561382	P	0.43477	0.808	B	0.36418	0.224	T	0.45411	-0.9263	10	0.66056	D	0.02	-7.7041	15.5497	0.76141	0.0:0.0:1.0:0.0	.	17	Q15744	CEBPE_HUMAN	S	17	ENSP00000206513:P17S	ENSP00000206513:P17S	P	-	1	0	CEBPE	22658092	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	2.307000	0.43682	2.197000	0.70478	0.491000	0.48974	CCA		PASS	0.692	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071716.2	NM_001805		3	29	3	29	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42356142	42356142	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr14:42356142A>G	ENST00000298119.4	+	3	1503	c.314A>G	c.(313-315)cAt>cGt	p.H105R	LRFN5_ENST00000554120.1_Missense_Mutation_p.H105R|LRFN5_ENST00000554171.1_Missense_Mutation_p.H105R	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	105						integral component of membrane (GO:0016021)		p.H105R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGGGCTTTGCATTTGAATAGC	0.368										HNSCC(30;0.082)																												uc001wvm.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(313-315)CAT>CGT		leucine rich repeat and fibronectin type III							61.0	61.0	61.0					14																	42356142		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356142A>G	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.314A>G	14.37:g.42356142A>G	ENSP00000298119:p.His105Arg	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.H105R	p.H105R	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	1512	+			105			Extracellular (Potential).|LRR 3.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.314A>G	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	A	16.58	3.163010	0.57476	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.51325	0.71;0.71;0.71	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000017	T	0.47060	0.1425	N	0.04746	-0.17	0.58432	D	0.999998	D;D	0.65815	0.984;0.995	D;D	0.77557	0.972;0.99	T	0.55036	-0.8203	10	0.40728	T	0.16	.	13.6661	0.62396	1.0:0.0:0.0:0.0	.	105;105	G3V364;Q96NI6	.;LRFN5_HUMAN	R	105	ENSP00000298119:H105R;ENSP00000451897:H105R;ENSP00000451067:H105R	ENSP00000298119:H105R	H	+	2	0	LRFN5	41425892	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.098000	0.63641	0.528000	0.53228	CAT		PASS	0.368	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		18	59	18	59	---	---	---	---
PCNXL4	64430	broad.mit.edu	37	14	60582115	60582115	+	Silent	SNP	A	A	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr14:60582115A>G	ENST00000406854.1	+	4	1847	c.1293A>G	c.(1291-1293)gtA>gtG	p.V431V	PCNXL4_ENST00000404681.2_Silent_p.V431V|PCNXL4_ENST00000317623.4_Silent_p.V197V|PCNXL4_ENST00000406949.1_Silent_p.V197V			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	431						integral component of membrane (GO:0016021)		p.V431V(1)|p.V197V(1)									CTGTGACTGTATTCTTTGAGA	0.343																																						uc001xer.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(589-591)GTA>GTG		hepatitis C virus F protein-binding protein 2							115.0	114.0	114.0					14																	60582115		1837	4090	5927	SO:0001819	synonymous_variant	64430					integral to membrane		g.chr14:60582115A>G	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.1293A>G	14.37:g.60582115A>G						C14orf135_uc001xeq.2_Silent_p.V197V|C14orf135_uc010apm.2_5'Flank	p.V197V	NM_022495	NP_071940	Q63HM2	CN135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.127)	3	1113	+		Myeloproliferative disorder(585;0.163)	431					A8MXM2|Q9BQG8|Q9H9F2	Silent	SNP	ENST00000406854.1	37	c.591A>G																																																																																					PASS	0.343	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495		39	118	39	118	---	---	---	---
ALDH6A1	4329	broad.mit.edu	37	14	74538983	74538983	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr14:74538983G>T	ENST00000553458.1	-	4	369	c.271C>A	c.(271-273)Cct>Act	p.P91T	ALDH6A1_ENST00000350259.4_Missense_Mutation_p.P91T|ALDH6A1_ENST00000556852.1_5'UTR|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Intron	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	91					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)	p.P91T(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		GCCCATGCAGGAAAAGCACGT	0.463																																						uc001xpo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(271-273)CCT>ACT		aldehyde dehydrogenase 6A1 precursor	NADH(DB00157)						75.0	71.0	72.0					14																	74538983		2203	4300	6503	SO:0001583	missense	4329					mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	g.chr14:74538983G>T	M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"""Aldehyde dehydrogenases"""	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.271C>A	14.37:g.74538983G>T	ENSP00000450436:p.Pro91Thr					C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010asa.2_5'UTR|ALDH6A1_uc010tuq.1_Missense_Mutation_p.P91T	p.P91T	NM_005589	NP_005580	Q02252	MMSA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00354)	4	370	-			91					B2R609|B4DFS8|J3KNU8|Q9UKM8	Missense_Mutation	SNP	ENST00000553458.1	37	c.271C>A	CCDS9826.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939367	0.52972	.	.	ENSG00000119711	ENST00000553458;ENST00000350259	T;T	0.76448	-1.02;-1.02	5.28	5.28	0.74379	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.297122	0.37530	N	0.002044	T	0.77857	0.4193	M	0.70595	2.14	0.80722	D	1	B;B	0.23806	0.022;0.091	B;B	0.31101	0.079;0.124	T	0.75958	-0.3134	10	0.54805	T	0.06	.	12.8294	0.57738	0.0841:0.0:0.9159:0.0	.	91;91	B4DFS8;Q02252	.;MMSA_HUMAN	T	91	ENSP00000450436:P91T;ENSP00000342564:P91T	ENSP00000342564:P91T	P	-	1	0	ALDH6A1	73608736	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.201000	0.58439	2.744000	0.94065	0.655000	0.94253	CCT		PASS	0.463	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1			14	28	14	28	---	---	---	---
SERPINA3	12	broad.mit.edu	37	14	95081268	95081268	+	Missense_Mutation	SNP	G	G	C			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr14:95081268G>C	ENST00000467132.1	+	2	1638	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	SERPINA3_ENST00000482740.1_5'Flank|SERPINA3_ENST00000393080.4_Missense_Mutation_p.E164Q|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Missense_Mutation_p.E164Q			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	164					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E164Q(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GTATGGCTCCGAGGCCTTTGC	0.502																																						uc001ydp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6						c.(490-492)GAG>CAG		serpin peptidase inhibitor, clade A, member 3							82.0	76.0	78.0					14																	95081268		2203	4300	6503	SO:0001583	missense	12				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	g.chr14:95081268G>C	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.490G>C	14.37:g.95081268G>C	ENSP00000450540:p.Glu164Gln					SERPINA3_uc001ydo.3_Missense_Mutation_p.E189Q|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.E164Q|SERPINA3_uc001yds.2_Missense_Mutation_p.E164Q|SERPINA3_uc010avg.2_Missense_Mutation_p.E164Q	p.E164Q	NM_001085	NP_001076	P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	2	569	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	164					B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	c.490G>C	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741102	0.49151	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132	D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06	5.13	-1.64	0.08318	Serpin domain (3);	0.443331	0.22015	N	0.065805	D	0.90584	0.7048	M	0.86268	2.805	0.09310	N	1	D;P	0.76494	0.999;0.953	D;P	0.75484	0.986;0.625	D	0.83512	0.0081	10	0.87932	D	0	.	9.2546	0.37575	0.1361:0.4638:0.4002:0.0	.	164;189	P01011;G3V5I3	AACT_HUMAN;.	Q	189;164;164;164;164	ENSP00000452367:E189Q;ENSP00000376793:E164Q;ENSP00000376795:E164Q;ENSP00000450540:E164Q	ENSP00000376793:E164Q	E	+	1	0	SERPINA3	94151021	0.184000	0.23200	0.000000	0.03702	0.000000	0.00434	0.579000	0.23788	-0.270000	0.09285	-1.099000	0.02127	GAG		PASS	0.502	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		9	42	9	42	---	---	---	---
DICER1	23405	broad.mit.edu	37	14	95562709	95562709	+	Missense_Mutation	SNP	T	T	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr14:95562709T>A	ENST00000526495.1	-	25	4839	c.4548A>T	c.(4546-4548)aaA>aaT	p.K1516N	DICER1_ENST00000556045.1_Missense_Mutation_p.K414N|DICER1_ENST00000527414.1_Missense_Mutation_p.K1516N|DICER1_ENST00000343455.3_Missense_Mutation_p.K1516N|DICER1_ENST00000393063.1_Missense_Mutation_p.K1516N|DICER1_ENST00000541352.1_Missense_Mutation_p.K1516N			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1516					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.K1516N(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTTCAACAGCTTTGCTAGGAT	0.433			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(4546-4548)AAA>AAT		dicer1							92.0	90.0	91.0					14																	95562709		2203	4300	6503	SO:0001583	missense	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95562709T>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.4548A>T	14.37:g.95562709T>A	ENSP00000437256:p.Lys1516Asn					DICER1_uc010avh.1_Missense_Mutation_p.K414N|DICER1_uc001ydv.2_Missense_Mutation_p.K1506N|DICER1_uc001ydx.2_Missense_Mutation_p.K1516N|DICER1_uc001ydy.1_Missense_Mutation_p.K368N	p.K1516N	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	24	4730	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1516					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.4548A>T	CCDS9931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.17|18.17	3.563488|3.563488	0.65651|0.65651	.|.	.|.	ENSG00000100697|ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352|ENST00000532939	T;T;T;T;D;T|.	0.92545|.	-0.29;-0.29;-0.29;-0.29;-3.06;-0.05|.	5.74|5.74	1.83|1.83	0.25207|0.25207	Ribonuclease III (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.48642|0.48642	1.525|1.525	0.54753|0.54753	D|D	0.999987|0.999987	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.91635|.	0.986;0.999;0.998|.	T|T	0.44081|0.44081	-0.9351|-0.9351	10|5	0.46703|.	T|.	0.11|.	-30.8666|-30.8666	9.2995|9.2995	0.37835|0.37835	0.0:0.5105:0.0:0.4895|0.0:0.5105:0.0:0.4895	.|.	414;1516;1516|.	B3KRG4;E0AD28;Q9UPY3|.	.;.;DICER_HUMAN|.	N|C	1516;1516;1516;1516;414;1516|195	ENSP00000343745:K1516N;ENSP00000437256:K1516N;ENSP00000376783:K1516N;ENSP00000435681:K1516N;ENSP00000451041:K414N;ENSP00000444719:K1516N|.	ENSP00000343745:K1516N|.	K|S	-|-	3|1	2|0	DICER1|DICER1	94632462|94632462	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.998000|0.998000	0.95712|0.95712	0.851000|0.851000	0.27751|0.27751	0.113000|0.113000	0.18004|0.18004	0.459000|0.459000	0.35465|0.35465	AAA|AGC		PASS	0.433	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			32	64	32	64	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105415577	105415577	+	Missense_Mutation	SNP	G	G	C	rs375265904		TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr14:105415577G>C	ENST00000333244.5	-	7	6330	c.6211C>G	c.(6211-6213)Ctg>Gtg	p.L2071V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2071						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.L2071V(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCTTGGGCAGGTGCCCTTTG	0.617																																						uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(6211-6213)CTG>GTG		AHNAK nucleoprotein 2							107.0	76.0	87.0					14																	105415577		1793	3071	4864	SO:0001583	missense	113146					nucleus		g.chr14:105415577G>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6211C>G	14.37:g.105415577G>C	ENSP00000353114:p.Leu2071Val					AHNAK2_uc001ypx.2_Missense_Mutation_p.L1971V	p.L2071V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	6331	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2071					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.6211C>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	8.302	0.820236	0.16678	.	.	ENSG00000185567	ENST00000333244	T	0.01787	4.64	4.58	-0.969	0.10310	.	.	.	.	.	T	0.05731	0.0150	M	0.65498	2.005	0.09310	N	0.999999	D	0.76494	0.999	D	0.91635	0.999	T	0.39800	-0.9596	9	0.27082	T	0.32	-18.6132	4.684	0.12748	0.1857:0.0:0.442:0.3723	.	2071	Q8IVF2	AHNK2_HUMAN	V	2071	ENSP00000353114:L2071V	ENSP00000353114:L2071V	L	-	1	2	AHNAK2	104486622	.	.	0.982000	0.44146	0.376000	0.30014	.	.	0.357000	0.24183	0.485000	0.47835	CTG		PASS	0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		77	42	77	42	---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31330029	31330029	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr15:31330029G>T	ENST00000256552.6	-	20	2603	c.2456C>A	c.(2455-2457)gCt>gAt	p.A819D	TRPM1_ENST00000542188.1_Missense_Mutation_p.A836D|RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.A797D	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.A797D(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCTTGAGCCAGCATCTGCATT	0.478																																						uc001zfm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(2389-2391)GCT>GAT		transient receptor potential cation channel,							128.0	116.0	120.0					15																	31330029		2001	4191	6192	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31330029G>T	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2456C>A	15.37:g.31330029G>T	ENSP00000256552:p.Ala819Asp					TRPM1_uc010azy.2_Missense_Mutation_p.A704D|TRPM1_uc001zfl.2_RNA	p.A797D	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	19	2518	-		all_lung(180;1.92e-11)	797			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000256552.6	37	c.2390C>A	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898851	0.52227	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.63913	-0.07;-0.07;-0.07	4.88	4.88	0.63580	.	0.181802	0.48286	D	0.000183	T	0.45796	0.1360	N	0.08118	0	0.46185	D	0.998912	B;B	0.19331	0.035;0.009	B;B	0.19666	0.026;0.011	T	0.39761	-0.9598	10	0.44086	T	0.13	-7.8413	18.4281	0.90615	0.0:0.0:1.0:0.0	.	791;797	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	D	797;836;819;797	ENSP00000380897:A797D;ENSP00000437849:A836D;ENSP00000256552:A819D	ENSP00000256552:A819D	A	-	2	0	TRPM1	29117321	0.973000	0.33851	0.111000	0.21465	0.867000	0.49689	5.357000	0.66058	2.420000	0.82092	0.655000	0.94253	GCT		PASS	0.478	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		8	20	8	20	---	---	---	---
UACA	55075	broad.mit.edu	37	15	70960257	70960257	+	Silent	SNP	G	G	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr15:70960257G>A	ENST00000322954.6	-	16	2951	c.2766C>T	c.(2764-2766)taC>taT	p.Y922Y	UACA_ENST00000560441.1_Silent_p.Y907Y|UACA_ENST00000379983.2_Silent_p.Y909Y|UACA_ENST00000539319.1_Silent_p.Y813Y	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	922					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.Y922Y(1)|p.Y909Y(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CCAGGCTGATGTACTCAGCTT	0.363																																						uc002asr.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(2764-2766)TAC>TAT		uveal autoantigen with coiled-coil domains and							77.0	71.0	73.0					15																	70960257		2199	4298	6497	SO:0001819	synonymous_variant	55075					cytoskeleton|extracellular region		g.chr15:70960257G>A	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2766C>T	15.37:g.70960257G>A						UACA_uc010uke.1_Silent_p.Y813Y|UACA_uc002asq.2_Silent_p.Y909Y|UACA_uc010bin.1_Silent_p.Y897Y	p.Y922Y	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN			16	2870	-			922			Potential.		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Silent	SNP	ENST00000322954.6	37	c.2766C>T	CCDS10235.1																																																																																				PASS	0.363	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			13	41	13	41	---	---	---	---
RASGRF1	5923	broad.mit.edu	37	15	79356805	79356805	+	Missense_Mutation	SNP	C	C	A	rs562796027		TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr15:79356805C>A	ENST00000419573.3	-	2	614	c.340G>T	c.(340-342)Gca>Tca	p.A114S	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.A114S	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	114	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A114S(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CAATCTTTTGCGTCCTCTGTC	0.512																																						uc002beq.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)|central_nervous_system(1)	6						c.(340-342)GCA>TCA		Ras protein-specific guanine							318.0	255.0	276.0					15																	79356805		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79356805C>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.340G>T	15.37:g.79356805C>A	ENSP00000405963:p.Ala114Ser					RASGRF1_uc002bep.2_Missense_Mutation_p.A114S|RASGRF1_uc010blm.1_Missense_Mutation_p.A36S|RASGRF1_uc002ber.3_Missense_Mutation_p.A114S	p.A114S	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			2	715	-			114			PH 1.		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.340G>T	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.430931	0.43122	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.12039	2.72	4.95	4.02	0.46733	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.202431	0.42821	N	0.000644	T	0.11879	0.0289	L	0.31578	0.945	0.80722	D	1	B;B;B;B	0.15141	0.012;0.012;0.012;0.004	B;B;B;B	0.22880	0.026;0.042;0.026;0.015	T	0.06127	-1.0844	10	0.52906	T	0.07	.	12.6011	0.56497	0.1664:0.8336:0.0:0.0	.	114;114;114;114	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	S	114	ENSP00000405963:A114S	ENSP00000378224:A114S	A	-	1	0	RASGRF1	77143860	1.000000	0.71417	0.762000	0.31397	0.557000	0.35523	5.314000	0.65804	1.278000	0.44430	0.561000	0.74099	GCA		PASS	0.512	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		27	123	27	123	---	---	---	---
PRC1	9055	broad.mit.edu	37	15	91513658	91513658	+	Silent	SNP	A	A	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr15:91513658A>T	ENST00000361188.5	-	12	2759	c.1548T>A	c.(1546-1548)tcT>tcA	p.S516S	PRC1_ENST00000442656.2_Silent_p.S475S|PRC1_ENST00000361919.3_Silent_p.S516S|PRC1-AS1_ENST00000554388.1_RNA|PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000394249.3_Silent_p.S516S					protein regulator of cytokinesis 1									p.S516S(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)					GAGGAAGTCGAGACACGGGGG	0.542																																						uc002bqm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1546-1548)TCT>TCA		protein regulator of cytokinesis 1 isoform 1							278.0	221.0	240.0					15																	91513658		2198	4298	6496	SO:0001819	synonymous_variant	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91513658A>T	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.1548T>A	15.37:g.91513658A>T						PRC1_uc002bqn.2_Silent_p.S516S|PRC1_uc002bqo.2_Silent_p.S516S|PRC1_uc010uqs.1_Silent_p.S475S	p.S516S	NM_003981	NP_003972	O43663	PRC1_HUMAN			12	1705	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		516			Unstructured, Arg/Lys rich.			Silent	SNP	ENST00000361188.5	37	c.1548T>A	CCDS45352.1																																																																																				PASS	0.542	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		28	106	28	106	---	---	---	---
ABAT	18	broad.mit.edu	37	16	8829667	8829667	+	Splice_Site	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr16:8829667G>T	ENST00000396600.2	+	2	1008		c.e2+1		ABAT_ENST00000569156.1_Splice_Site|ABAT_ENST00000567812.1_Splice_Site|ABAT_ENST00000268251.8_Splice_Site|ABAT_ENST00000425191.2_Splice_Site	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase						behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)	p.?(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CTGGTGCCTGGTAAGCCCCGG	0.597																																						uc002czc.3																			1	Unknown(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.e2+1		4-aminobutyrate aminotransferase precursor	Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)						25.0	21.0	23.0					16																	8829667		2197	4299	6496	SO:0001630	splice_region_variant	18				behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	g.chr16:8829667G>T	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.70+1G>T	16.37:g.8829667G>T						ABAT_uc002czd.3_Splice_Site_p.G24_splice|ABAT_uc010buh.2_Splice_Site|ABAT_uc010bui.2_Splice_Site_p.G24_splice	p.G24_splice	NM_020686	NP_065737	P80404	GABT_HUMAN			2	236	+								A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Splice_Site	SNP	ENST00000396600.2	37	c.70_splice	CCDS10534.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382471	0.24944	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	.	.	.	3.95	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2908	0.60270	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABAT	8737168	1.000000	0.71417	0.977000	0.42913	0.138000	0.21146	3.895000	0.56258	2.232000	0.73038	0.650000	0.86243	.		PASS	0.597	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686	Intron	4	11	4	11	---	---	---	---
CPPED1	55313	broad.mit.edu	37	16	12758835	12758835	+	Missense_Mutation	SNP	C	C	T	rs369945677		TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr16:12758835C>T	ENST00000381774.4	-	4	1093	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	CPPED1_ENST00000261660.4_Missense_Mutation_p.R111H|CPPED1_ENST00000433677.2_Missense_Mutation_p.A143T	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	285						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.A285T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						ATTTTCTCGGCGGTGACCACC	0.522																																						uc002dca.3																			1	Substitution - Missense(1)		lung(1)		0						c.(853-855)GCC>ACC		calcineurin-like phosphoesterase domain		C	THR/ALA,THR/ALA	0,3792		0,0,1896	123.0	122.0	123.0		427,853	4.5	0.2	16		123	2,8232		0,2,4115	no	missense,missense	CPPED1	NM_001099455.1,NM_018340.2	58,58	0,2,6011	TT,TC,CC		0.0243,0.0,0.0166	benign,benign	143/173,285/315	12758835	2,12024	1896	4117	6013	SO:0001583	missense	55313						hydrolase activity|metal ion binding	g.chr16:12758835C>T	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"""complete S transactivated protein 1"""	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.853G>A	16.37:g.12758835C>T	ENSP00000371193:p.Ala285Thr					CPPED1_uc002dcb.3_Missense_Mutation_p.A143T|CPPED1_uc002dbz.3_RNA	p.A285T	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN			4	964	-			285					B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Missense_Mutation	SNP	ENST00000381774.4	37	c.853G>A	CCDS42120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.96|13.96	2.392559|2.392559	0.42410|0.42410	0.0|0.0	2.43E-4|2.43E-4	ENSG00000103381|ENSG00000103381	ENST00000381774;ENST00000433677|ENST00000261660	T;D|T	0.94376|0.36520	-0.41;-3.41|1.25	5.41|5.41	4.46|4.46	0.54185|0.54185	.|.	0.303615|.	0.37261|.	N|.	0.002171|.	T|T	0.47002|0.47002	0.1422|0.1422	M|M	0.63428|0.63428	1.95|1.95	0.24654|0.24654	N|N	0.993506|0.993506	D;P|.	0.76494|.	0.999;0.948|.	D;B|.	0.63877|.	0.919;0.361|.	T|T	0.39440|0.39440	-0.9614|-0.9614	10|7	0.40728|0.59425	T|D	0.16|0.04	-11.9105|-11.9105	12.3614|12.3614	0.55205|0.55205	0.0:0.9172:0.0:0.0828|0.0:0.9172:0.0:0.0828	.|.	143;285|.	Q9BRF8-2;Q9BRF8|.	.;CPPED_HUMAN|.	T|H	285;143|111	ENSP00000371193:A285T;ENSP00000411127:A143T|ENSP00000261660:R111H	ENSP00000371193:A285T|ENSP00000261660:R111H	A|R	-|-	1|2	0|0	CPPED1|CPPED1	12666336|12666336	0.982000|0.982000	0.34865|0.34865	0.170000|0.170000	0.22879|0.22879	0.266000|0.266000	0.26442|0.26442	4.655000|4.655000	0.61476|0.61476	1.407000|1.407000	0.46875|0.46875	0.655000|0.655000	0.94253|0.94253	GCC|CGC		PASS	0.522	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		9	57	9	57	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21082070	21082070	+	Silent	SNP	A	A	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr16:21082070A>G	ENST00000261383.3	-	22	3161	c.3162T>C	c.(3160-3162)tgT>tgC	p.C1054C	DNAH3_ENST00000415178.1_Silent_p.C1054C	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1054	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.C1054C(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATGGGGAGCCACACATGGTCT	0.433																																						uc010vbe.1																			2	Substitution - coding silent(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(3160-3162)TGT>TGC		dynein, axonemal, heavy chain 3							217.0	193.0	201.0					16																	21082070		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21082070A>G	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3162T>C	16.37:g.21082070A>G							p.C1054C	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	22	3162	-			1054			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.3162T>C	CCDS10594.1																																																																																				PASS	0.433	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		14	72	14	72	---	---	---	---
TNRC6A	27327	broad.mit.edu	37	16	24788444	24788444	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr16:24788444G>T	ENST00000395799.3	+	5	483	c.354G>T	c.(352-354)caG>caT	p.Q118H	TNRC6A_ENST00000315183.7_Missense_Mutation_p.Q118H	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	118	Gln-rich.|Interaction with argonaute family proteins.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q118H(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		cgcagccgcagcagcagcagc	0.612																																						uc002dmm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(352-354)CAG>CAT		trinucleotide repeat containing 6A							25.0	34.0	31.0					16																	24788444		2166	4266	6432	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24788444G>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.354G>T	16.37:g.24788444G>T	ENSP00000379144:p.Gln118His					TNRC6A_uc010bxs.2_5'UTR	p.Q118H	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	5	468	+			118			Gln-rich.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.354G>T	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	G	3.635	-0.074689	0.07184	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.13420	2.59;2.59	4.57	1.08	0.20341	.	0.506328	0.14780	N	0.298880	T	0.07458	0.0188	N	0.08118	0	0.19945	N	0.999947	B	0.32876	0.388	B	0.37943	0.261	T	0.38001	-0.9681	10	0.34782	T	0.22	0.3909	7.6308	0.28238	0.302:0.0:0.698:0.0	.	118	Q8NDV7	TNR6A_HUMAN	H	118	ENSP00000326900:Q118H;ENSP00000379144:Q118H	ENSP00000326900:Q118H	Q	+	3	2	TNRC6A	24695945	0.690000	0.27699	0.003000	0.11579	0.002000	0.02628	1.926000	0.40084	0.135000	0.18707	0.591000	0.81541	CAG		PASS	0.612	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		9	24	9	24	---	---	---	---
NOB1	28987	broad.mit.edu	37	16	69782934	69782934	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr16:69782934C>A	ENST00000268802.5	-	6	642	c.613G>T	c.(613-615)Ggg>Tgg	p.G205W		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	205					visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.G205W(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CAGCCACCCCCGTCGTCATCG	0.552																																						uc002exs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(613-615)GGG>TGG		nin one binding protein							81.0	76.0	78.0					16																	69782934		2198	4297	6495	SO:0001583	missense	28987					nucleus	metal ion binding|protein binding	g.chr16:69782934C>A	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"""nin one binding protein"""	613586	"""PSMD8 binding protein 1"""	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.613G>T	16.37:g.69782934C>A	ENSP00000268802:p.Gly205Trp						p.G205W	NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN			6	629	-			205					Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Missense_Mutation	SNP	ENST00000268802.5	37	c.613G>T	CCDS10884.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833433	0.50951	.	.	ENSG00000141101	ENST00000268802	T	0.33216	1.42	5.18	5.18	0.71444	.	0.380234	0.29133	N	0.013051	T	0.49457	0.1558	M	0.66297	2.02	0.50171	D	0.999855	D	0.65815	0.995	P	0.62491	0.903	T	0.42682	-0.9437	9	.	.	.	.	13.4158	0.60968	0.0:0.9215:0.0:0.0785	.	205	Q9ULX3	NOB1_HUMAN	W	205	ENSP00000268802:G205W	.	G	-	1	0	NOB1	68340435	0.955000	0.32602	0.940000	0.37924	0.039000	0.13416	5.707000	0.68370	2.566000	0.86566	0.585000	0.79938	GGG		PASS	0.552	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062		10	18	10	18	---	---	---	---
BCAR1	9564	broad.mit.edu	37	16	75263738	75263738	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr16:75263738C>A	ENST00000162330.5	-	7	2410	c.2284G>T	c.(2284-2286)Gtg>Ttg	p.V762L	BCAR1_ENST00000418647.3_Missense_Mutation_p.V808L|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000393422.2_Missense_Mutation_p.V780L|BCAR1_ENST00000538440.2_Missense_Mutation_p.V762L|BCAR1_ENST00000393420.6_Missense_Mutation_p.V780L|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000546196.1_Missense_Mutation_p.V733L|BCAR1_ENST00000542031.2_Missense_Mutation_p.V760L|BCAR1_ENST00000535626.2_Missense_Mutation_p.V614L|BCAR1_ENST00000420641.3_Missense_Mutation_p.V780L	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	762	Divergent helix-loop-helix motif.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.V780L(1)|p.V762L(1)|p.V808L(1)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		AAGGCGTCCACGGCGTTGGTC	0.647																																						uc002fdv.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(5)|breast(2)|prostate(1)	8						c.(2284-2286)GTG>TTG		breast cancer anti-estrogen resistance 1							85.0	77.0	80.0					16																	75263738		2198	4300	6498	SO:0001583	missense	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75263738C>A	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2284G>T	16.37:g.75263738C>A	ENSP00000162330:p.Val762Leu					BCAR1_uc002fdt.2_Missense_Mutation_p.V215L|BCAR1_uc002fdu.2_Missense_Mutation_p.V552L|BCAR1_uc010cgu.2_Missense_Mutation_p.V751L|BCAR1_uc010vna.1_Missense_Mutation_p.V760L|BCAR1_uc010vnb.1_Missense_Mutation_p.V808L|BCAR1_uc002fdw.2_Missense_Mutation_p.V762L|BCAR1_uc010vnc.1_Missense_Mutation_p.V614L|BCAR1_uc010vnd.1_Missense_Mutation_p.V780L|BCAR1_uc002fdx.2_Missense_Mutation_p.V780L	p.V762L	NM_014567	NP_055382	P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	2407	-			762			Divergent helix-loop-helix motif.		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	c.2284G>T	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141452	0.37825	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	4.69	3.72	0.42706	CAS family, DUF3513 (1);	0.074668	0.51477	D	0.000086	T	0.41834	0.1176	L	0.49126	1.545	0.31234	N	0.695951	D;P;D;D;D;D;P;D;P	0.57571	0.98;0.942;0.98;0.975;0.975;0.98;0.942;0.98;0.953	D;B;D;D;D;D;P;D;P	0.68621	0.959;0.378;0.959;0.931;0.931;0.959;0.475;0.959;0.512	T	0.46484	-0.9188	10	0.56958	D	0.05	-23.8293	4.6386	0.12538	0.1867:0.6434:0.0:0.1699	.	780;614;808;760;780;780;762;762;552	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	L	762;780;780;762;808;614;780;760;733	ENSP00000162330:V762L;ENSP00000377074:V780L;ENSP00000392708:V780L;ENSP00000443841:V762L;ENSP00000391669:V808L;ENSP00000440370:V614L;ENSP00000377072:V780L;ENSP00000440415:V760L;ENSP00000442161:V733L	ENSP00000162330:V762L	V	-	1	0	BCAR1	73821239	0.935000	0.31712	0.756000	0.31282	0.005000	0.04900	1.867000	0.39499	1.075000	0.40932	-0.311000	0.09066	GTG		PASS	0.647	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		16	46	16	46	---	---	---	---
CLEC3A	10143	broad.mit.edu	37	16	78064380	78064380	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr16:78064380A>T	ENST00000575655.1	+	3	317	c.236A>T	c.(235-237)tAc>tTc	p.Y79F	RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000299642.4_Missense_Mutation_p.Y88F|CLEC3A_ENST00000565808.1_3'UTR	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	79	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.Y79F(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						AAGAAATGCTACCTTGCTTCA	0.433																																						uc002ffh.3																			1	Substitution - Missense(1)		lung(1)		0						c.(235-237)TAC>TTC		C-type lectin domain family 3 member A							86.0	79.0	81.0					16																	78064380		2198	4300	6498	SO:0001583	missense	10143				skeletal system development	extracellular region	sugar binding	g.chr16:78064380A>T	AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"""C-type lectin domain containing"""	2052	protein-coding gene	gene with protein product		613588	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"""	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.236A>T	16.37:g.78064380A>T	ENSP00000460682:p.Tyr79Phe						p.Y79F	NM_005752	NP_005743	O75596	CLC3A_HUMAN			3	317	+			79			C-type lectin.		B2R8C4|Q3SX91|Q6UXF5	Missense_Mutation	SNP	ENST00000575655.1	37	c.236A>T		.	.	.	.	.	.	.	.	.	.	A	9.542	1.113724	0.20795	.	.	ENSG00000166509	ENST00000299642	.	.	.	5.76	5.76	0.90799	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.85682	D	0.000000	T	0.67608	0.2911	L	0.45698	1.435	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.61505	-0.7049	9	0.13470	T	0.59	-29.2546	16.0399	0.80667	1.0:0.0:0.0:0.0	.	79	O75596	CLC3A_HUMAN	F	79	.	ENSP00000299642:Y79F	Y	+	2	0	CLEC3A	76621881	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.955000	0.76007	2.323000	0.78572	0.528000	0.53228	TAC		PASS	0.433	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005752		9	68	9	68	---	---	---	---
Unknown	0	broad.mit.edu	37	16	88620366	88620366	+	IGR	SNP	G	G	A	rs149492586	byFrequency	TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr16:88620366G>A								ZFPM1 (16942 upstream) : ZC3H18 (16422 downstream)														p.V88V(1)									AGCTGGGACGGACGCCCGCAG	0.662																																						uc010vox.1																			1	Substitution - coding silent(1)		lung(1)								c.(262-264)GTC>GTT		RecName: Full=Putative uncharacterized protein C16orf85;							64.0	67.0	66.0					16																	88620366		2198	4300	6498	SO:0001628	intergenic_variant	0							g.chr16:88620366G>A																													16.37:g.88620366G>A							p.V88V							2	264	-									Silent	SNP		37	c.264C>T																																																																																				0	PASS	0.662									7	52	7	52	---	---	---	---
TCF25	22980	broad.mit.edu	37	16	89950999	89950999	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr16:89950999A>G	ENST00000263346.8	+	3	420	c.364A>G	c.(364-366)Agt>Ggt	p.S122G	TCF25_ENST00000563406.1_3'UTR|TCF25_ENST00000263347.7_5'Flank	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	122					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S122G(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		GTCTCATGCAAGTGGCAAACT	0.438																																						uc002fpb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(364-366)AGT>GGT		NULP1							78.0	72.0	74.0					16																	89950999		2198	4299	6497	SO:0001583	missense	22980				heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr16:89950999A>G	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.364A>G	16.37:g.89950999A>G	ENSP00000263346:p.Ser122Gly					TCF25_uc002fpc.2_5'UTR	p.S122G	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0288)	3	446	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	122					Q2MK75|Q9UPV3	Missense_Mutation	SNP	ENST00000263346.8	37	c.364A>G	CCDS10987.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.549200	0.65311	.	.	ENSG00000141002	ENST00000263346;ENST00000310554	.	.	.	5.2	1.73	0.24493	.	0.422460	0.28161	N	0.016368	T	0.38374	0.1038	L	0.29908	0.895	0.53005	D	0.999968	B	0.06786	0.001	B	0.04013	0.001	T	0.15321	-1.0441	9	0.46703	T	0.11	.	4.1605	0.10282	0.68:0.0:0.1677:0.1522	.	122	Q9BQ70	TCF25_HUMAN	G	122	.	ENSP00000263346:S122G	S	+	1	0	TCF25	88478500	0.525000	0.26290	0.931000	0.37212	0.978000	0.69477	1.200000	0.32247	0.466000	0.27193	0.533000	0.62120	AGT		PASS	0.438	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	NM_014972		5	9	5	9	---	---	---	---
ZNF594	84622	broad.mit.edu	37	17	5086085	5086085	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr17:5086085C>A	ENST00000399604.4	-	1	1607	c.1467G>T	c.(1465-1467)caG>caT	p.Q489H	ZNF594_ENST00000575779.1_Missense_Mutation_p.Q489H			Q96JF6	ZN594_HUMAN	zinc finger protein 594	489					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q489H(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ATTCAGTGCACTGATAGGGCT	0.458																																						uc010cla.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1465-1467)CAG>CAT		zinc finger protein 594							61.0	65.0	64.0					17																	5086085		2188	4298	6486	SO:0001583	missense	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5086085C>A	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1467G>T	17.37:g.5086085C>A	ENSP00000382513:p.Gln489His						p.Q489H	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN			2	1623	-			489			C2H2-type 14.		Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	c.1467G>T	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739770	0.30865	.	.	ENSG00000180626	ENST00000399604;ENST00000389222	T	0.19394	2.15	1.75	-2.13	0.07144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18841	0.0452	L	0.38953	1.18	0.09310	N	1	P	0.42123	0.771	P	0.46144	0.505	T	0.21415	-1.0246	9	0.62326	D	0.03	.	6.142	0.20265	0.0:0.3241:0.0:0.6759	.	489	Q96JF6	ZN594_HUMAN	H	489;84	ENSP00000382513:Q489H	ENSP00000373874:Q84H	Q	-	3	2	ZNF594	5026809	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-2.623000	0.00876	-0.377000	0.07930	-0.657000	0.03884	CAG		PASS	0.458	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		21	29	21	29	---	---	---	---
ACAP1	9744	broad.mit.edu	37	17	7253320	7253320	+	Silent	SNP	G	G	C			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr17:7253320G>C	ENST00000158762.3	+	19	2114	c.1908G>C	c.(1906-1908)gcG>gcC	p.A636A	ACAP1_ENST00000574499.1_5'Flank|ACAP1_ENST00000575415.1_5'Flank|ACAP1_ENST00000570504.1_5'Flank|ACAP1_ENST00000571471.1_5'Flank|RP11-542C16.1_ENST00000572417.1_RNA|KCTD11_ENST00000333751.3_5'Flank	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	636	Required for interaction with GULP1.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.A636A(1)		NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TGAACCAAGCGGACAGTGCGG	0.622																																						uc002ggd.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|large_intestine(1)	3						c.(1906-1908)GCG>GCC		centaurin beta1							87.0	91.0	90.0					17																	7253320		2203	4300	6503	SO:0001819	synonymous_variant	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7253320G>C	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1908G>C	17.37:g.7253320G>C						KCTD11_uc002gge.3_5'Flank	p.A636A	NM_014716	NP_055531	Q15027	ACAP1_HUMAN			19	2114	+			636			Required for interaction with GULP1.		Q53XN9	Silent	SNP	ENST00000158762.3	37	c.1908G>C	CCDS11101.1																																																																																				PASS	0.622	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		11	99	11	99	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	A	rs121912660		TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr17:7577099C>A	ENST00000269305.4	-	8	1028	c.839G>T	c.(838-840)aGa>aTa	p.R280I	TP53_ENST00000445888.2_Missense_Mutation_p.R280I|TP53_ENST00000420246.2_Missense_Mutation_p.R280I|TP53_ENST00000359597.4_Missense_Mutation_p.R280I|TP53_ENST00000455263.2_Missense_Mutation_p.R280I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCGCCGGTCTCTCCCAGGACA	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		154	Substitution - Missense(130)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(2)	p.R280T(53)|p.R280K(41)|p.R280G(18)|p.R280S(13)|p.R280I(12)|p.R280*(8)|p.R280fs*65(7)|p.0?(7)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.D281fs*24(1)|p.V272_K292del21(1)|p.C275fs*20(1)	urinary_tract(50)|breast(22)|lung(20)|upper_aerodigestive_tract(14)|haematopoietic_and_lymphoid_tissue(8)|large_intestine(5)|central_nervous_system(5)|stomach(4)|biliary_tract(4)|oesophagus(4)|skin(4)|ovary(4)|bone(4)|prostate(3)|small_intestine(1)|endometrium(1)|vagina(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM993218	TP53	M	rs121912660	c.(838-840)AGA>ATA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							77.0	67.0	70.0					17																	7577099		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577099C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.839G>T	17.37:g.7577099C>A	ENSP00000269305:p.Arg280Ile	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R280I|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R148I|TP53_uc010cng.1_Missense_Mutation_p.R148I|TP53_uc002gii.1_Missense_Mutation_p.R148I|TP53_uc010cnh.1_Missense_Mutation_p.R280I|TP53_uc010cni.1_Missense_Mutation_p.R280I|TP53_uc002gij.2_Missense_Mutation_p.R280I	p.R280I	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1033	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	280		R -> T (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.839G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	34	5.380644	0.95945	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.995	D;D;D;D	0.91635	0.99;0.999;0.99;0.99	D	0.96400	0.9296	10	0.87932	D	0	-21.0303	16.1198	0.81342	0.0:1.0:0.0:0.0	.	280;280;280;280	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	I	280;280;280;280;280;269;148	ENSP00000352610:R280I;ENSP00000269305:R280I;ENSP00000398846:R280I;ENSP00000391127:R280I;ENSP00000391478:R280I;ENSP00000425104:R148I	ENSP00000269305:R280I	R	-	2	0	TP53	7517824	0.978000	0.34361	1.000000	0.80357	0.980000	0.70556	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	AGA		PASS	0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	20	16	20	---	---	---	---
LIMD2	80774	broad.mit.edu	37	17	61776255	61776255	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr17:61776255C>T	ENST00000259006.3	-	4	286	c.128G>A	c.(127-129)tGc>tAc	p.C43Y	LIMD2_ENST00000578402.1_Missense_Mutation_p.C43Y|LIMD2_ENST00000578993.1_Intron|LIMD2_ENST00000578061.1_Missense_Mutation_p.C43Y|LIMD2_ENST00000582055.1_5'UTR|LIMD2_ENST00000583211.1_5'UTR	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	43	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.						zinc ion binding (GO:0008270)	p.C43Y(1)		kidney(1)|lung(2)	3						GGTCTTCTGGCAGGCGGCGCA	0.632																																						uc002jbj.3																			1	Substitution - Missense(1)		lung(1)		0						c.(127-129)TGC>TAC		LIM domain containing 2							64.0	66.0	66.0					17																	61776255		2203	4300	6503	SO:0001583	missense	80774						zinc ion binding	g.chr17:61776255C>T	AK092301	CCDS11641.1	17q23.3	2006-02-03				ENSG00000136490			28142	protein-coding gene	gene with protein product						12477932	Standard	NM_030576		Approved	MGC10986	uc002jbj.4	Q9BT23		ENST00000259006.3:c.128G>A	17.37:g.61776255C>T	ENSP00000259006:p.Cys43Tyr					LIMD2_uc002jbk.3_Silent_p.L44L|LIMD2_uc002jbl.3_Missense_Mutation_p.C43Y	p.C43Y	NM_030576	NP_085053	Q9BT23	LIMD2_HUMAN			4	306	-			43			LIM zinc-binding.		D3DU16|Q96S91	Missense_Mutation	SNP	ENST00000259006.3	37	c.128G>A	CCDS11641.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311504	0.81358	.	.	ENSG00000136490	ENST00000259006	D	0.99319	-5.74	4.72	3.75	0.43078	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.99687	0.9882	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97250	0.9897	10	0.87932	D	0	-2.8799	14.3685	0.66823	0.1491:0.8509:0.0:0.0	.	43	Q9BT23	LIMD2_HUMAN	Y	43	ENSP00000259006:C43Y	ENSP00000259006:C43Y	C	-	2	0	LIMD2	59129987	1.000000	0.71417	0.988000	0.46212	0.978000	0.69477	5.423000	0.66458	1.203000	0.43233	0.448000	0.29417	TGC		PASS	0.632	LIMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443877.1	NM_030576		19	64	19	64	---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62018275	62018275	+	Silent	SNP	C	C	A	rs189230866		TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr17:62018275C>A	ENST00000435607.1	-	24	5443	c.5367G>T	c.(5365-5367)tcG>tcT	p.S1789S	SCN4A_ENST00000578147.1_Silent_p.S1789S	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1789					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.S1789S(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCGGGCTTGGCGAGCTGCTGT	0.667																																						uc002jds.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(5365-5367)TCG>TCT		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						43.0	48.0	46.0					17																	62018275		2126	4220	6346	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62018275C>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.5367G>T	17.37:g.62018275C>A							p.S1789S	NM_000334	NP_000325	P35499	SCN4A_HUMAN			24	5444	-			1789					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.5367G>T	CCDS45761.1																																																																																				PASS	0.667	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		19	41	19	41	---	---	---	---
LRRC37A3	374819	broad.mit.edu	37	17	62856410	62856410	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr17:62856410G>A	ENST00000584306.1	-	11	4384	c.3854C>T	c.(3853-3855)gCa>gTa	p.A1285V	LRRC37A3_ENST00000334962.5_Missense_Mutation_p.A262V|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.A403V|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.A323V|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.A1285V	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1285						integral component of membrane (GO:0016021)		p.A1285V(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TCTAGCCTTTGCACTTTCTAA	0.463																																						uc002jey.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3853-3855)GCA>GTA		leucine rich repeat containing 37, member A3							135.0	137.0	136.0					17																	62856410		2203	4300	6503	SO:0001583	missense	374819					integral to membrane		g.chr17:62856410G>A	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.3854C>T	17.37:g.62856410G>A	ENSP00000464535:p.Ala1285Val					LRRC37A3_uc010wqg.1_Missense_Mutation_p.A403V|LRRC37A3_uc002jex.1_Missense_Mutation_p.A262V|LRRC37A3_uc010wqf.1_Missense_Mutation_p.A323V|LRRC37A3_uc010dek.1_Missense_Mutation_p.A291V	p.A1285V	NM_199340	NP_955372	O60309	L37A3_HUMAN			11	4385	-			1285			Extracellular (Potential).		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	c.3854C>T	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	13.70	2.314113	0.40996	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.72394	0.73;0.7;-0.65	2.5	1.5	0.22942	.	.	.	.	.	T	0.77798	0.4184	M	0.65975	2.015	0.09310	N	1	D;D	0.89917	1.0;0.993	D;D	0.73380	0.98;0.935	T	0.62558	-0.6829	9	0.56958	D	0.05	.	4.5337	0.12017	0.1914:0.0:0.8086:0.0	.	403;1285	B4DG20;O60309	.;L37A3_HUMAN	V	366;323;262;1285	ENSP00000383674:A323V;ENSP00000335617:A262V;ENSP00000325713:A1285V	ENSP00000325713:A1285V	A	-	2	0	LRRC37A3	60286872	0.136000	0.22515	0.007000	0.13788	0.017000	0.09413	1.790000	0.38734	1.399000	0.46721	0.184000	0.17185	GCA		PASS	0.463	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		12	184	12	184	---	---	---	---
SLC16A6	9120	broad.mit.edu	37	17	66267094	66267094	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr17:66267094G>T	ENST00000327268.4	-	6	1371	c.1207C>A	c.(1207-1209)Cac>Aac	p.H403N	SLC16A6_ENST00000580666.1_Missense_Mutation_p.H403N|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	403					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)	p.H403N(1)		large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	AGTGGAATGTGAGTCCCTCCT	0.463																																						uc002jgz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1207-1209)CAC>AAC		solute carrier family 16, member 6	Pyruvic acid(DB00119)						121.0	107.0	112.0					17																	66267094		2203	4300	6503	SO:0001583	missense	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66267094G>T	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.1207C>A	17.37:g.66267094G>T	ENSP00000319991:p.His403Asn					ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Missense_Mutation_p.H403N	p.H403N	NM_004694	NP_004685	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		5	1395	-	all_cancers(12;1.24e-09)		403			Cytoplasmic (Potential).		Q6P1X3	Missense_Mutation	SNP	ENST00000327268.4	37	c.1207C>A	CCDS11675.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168260	0.78339	.	.	ENSG00000108932	ENST00000327268	T	0.56941	0.43	4.52	4.52	0.55395	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.73024	0.3534	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.72802	-0.4183	10	0.27785	T	0.31	.	16.4022	0.83644	0.0:0.0:1.0:0.0	.	403	O15403	MOT7_HUMAN	N	403	ENSP00000319991:H403N	ENSP00000319991:H403N	H	-	1	0	SLC16A6	63778689	1.000000	0.71417	0.998000	0.56505	0.864000	0.49448	9.454000	0.97621	2.340000	0.79590	0.484000	0.47621	CAC		PASS	0.463	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		32	50	32	50	---	---	---	---
DNAI2	64446	broad.mit.edu	37	17	72305467	72305467	+	Silent	SNP	C	C	T	rs372940037		TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr17:72305467C>T	ENST00000311014.6	+	10	1354	c.1287C>T	c.(1285-1287)gaC>gaT	p.D429D	DNAI2_ENST00000579490.1_Silent_p.D486D|DNAI2_ENST00000582036.1_Silent_p.D429D|RP11-647F2.2_ENST00000585167.1_RNA|AC103809.1_ENST00000516976.1_RNA|DNAI2_ENST00000446837.2_Silent_p.D429D|DNAI2_ENST00000307504.5_Silent_p.D286D			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	429					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)	p.D429D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCAGGATGGACGGAACCCTGG	0.577									Kartagener syndrome																													uc002jkf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1285-1287)GAC>GAT		dynein, axonemal, intermediate polypeptide 2		C	,	0,4406		0,0,2203	170.0	126.0	141.0		1287,1287	-6.3	0.9	17		141	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DNAI2	NM_001172810.1,NM_023036.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	429/594,429/606	72305467	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64446	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72305467C>T	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1287C>T	17.37:g.72305467C>T						DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_Missense_Mutation_p.V90I|DNAI2_uc002jki.2_RNA	p.D429D	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN			10	1386	+			429			WD 5.		C9J0S6|Q8IUW4|Q9H179|Q9NT53	Silent	SNP	ENST00000311014.6	37	c.1287C>T	CCDS11697.1																																																																																				PASS	0.577	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		4	34	4	34	---	---	---	---
LLGL2	3993	broad.mit.edu	37	17	73569291	73569291	+	Missense_Mutation	SNP	G	G	A	rs139000321		TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr17:73569291G>A	ENST00000392550.3	+	20	2774	c.2657G>A	c.(2656-2658)cGc>cAc	p.R886H	LLGL2_ENST00000577200.1_Missense_Mutation_p.R886H|LLGL2_ENST00000167462.5_Missense_Mutation_p.R886H	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	886					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)	p.R886H(2)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCCCAGGTGCGCTACAGCTGC	0.652																																						uc002joh.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2656-2658)CGC>CAC		lethal giant larvae homolog 2 isoform c		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	60.0	53.0	55.0		2657,2657	4.6	1.0	17	dbSNP_134	55	0,8600		0,0,4300	no	missense,missense	LLGL2	NM_001031803.1,NM_004524.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	886/1021,886/1016	73569291	1,13005	2203	4300	6503	SO:0001583	missense	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73569291G>A	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.2657G>A	17.37:g.73569291G>A	ENSP00000376333:p.Arg886His					LLGL2_uc002joi.2_Missense_Mutation_p.R886H|LLGL2_uc010dgg.1_Missense_Mutation_p.R886H|LLGL2_uc002joj.2_Missense_Mutation_p.R875H|LLGL2_uc010wsd.1_Missense_Mutation_p.R513H	p.R886H	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		20	2811	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		886			WD 13.		Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	c.2657G>A	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437452	0.43224	2.27E-4	0.0	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.04970	3.52;3.64	4.63	4.63	0.57726	.	0.172598	0.51477	D	0.000089	T	0.06917	0.0176	L	0.42245	1.32	0.45762	D	0.998654	B;B;B;B;B	0.28291	0.206;0.048;0.08;0.098;0.059	B;B;B;B;B	0.20955	0.032;0.008;0.017;0.018;0.008	T	0.33085	-0.9882	10	0.12430	T	0.62	1.0738	17.7268	0.88367	0.0:0.0:1.0:0.0	.	513;875;875;886;886	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	H	886;886;875	ENSP00000167462:R886H;ENSP00000376333:R886H	ENSP00000167462:R886H	R	+	2	0	LLGL2	71080886	1.000000	0.71417	0.996000	0.52242	0.956000	0.61745	5.158000	0.64917	2.408000	0.81797	0.400000	0.26472	CGC		PASS	0.652	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		32	81	32	81	---	---	---	---
CBX4	8535	broad.mit.edu	37	17	77808067	77808067	+	Silent	SNP	C	C	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr17:77808067C>G	ENST00000269397.4	-	5	1551	c.1374G>C	c.(1372-1374)ccG>ccC	p.P458P		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	458	Interaction with BMI1.			P -> R (in Ref. 1; AAB80718 and 5; AAB62734). {ECO:0000305}.	chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.P458P(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCTCGGGCTGCGGGAGGGCGG	0.716																																						uc002jxe.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(1372-1374)CCG>CCC		chromobox homolog 4							6.0	8.0	7.0					17																	77808067		2016	3962	5978	SO:0001819	synonymous_variant	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77808067C>G	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.1374G>C	17.37:g.77808067C>G							p.P458P	NM_003655	NP_003646	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1537	-			458	P -> R (in Ref. 1; AAB80718 and 4; AAB62734).		Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	Silent	SNP	ENST00000269397.4	37	c.1374G>C	CCDS32758.1																																																																																				PASS	0.716	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		4	18	4	18	---	---	---	---
GAREM	64762	broad.mit.edu	37	18	29848010	29848010	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr18:29848010A>C	ENST00000269209.6	-	6	2458	c.2455T>G	c.(2455-2457)Tca>Gca	p.S819A	GAREM_ENST00000399218.4_Missense_Mutation_p.S818A			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	819	SAM.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.S818A(1)									AACCGTAGTGACTTGGACACT	0.502																																						uc002kxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2455-2457)TCA>GCA		family with sequence similarity 59, member A							57.0	53.0	54.0					18																	29848010		2203	4300	6503	SO:0001583	missense	64762							g.chr18:29848010A>C	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.2455T>G	18.37:g.29848010A>C	ENSP00000269209:p.Ser819Ala					FAM59A_uc002kxk.1_Missense_Mutation_p.S818A	p.S819A	NM_022751	NP_073588	Q9H706	FA59A_HUMAN			6	2511	-			819			SAM.		Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	c.2455T>G	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	A	18.37	3.608874	0.66558	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.15487	2.42;2.42	5.66	5.66	0.87406	Sterile alpha motif/pointed domain (2);	0.114744	0.64402	D	0.000008	T	0.22282	0.0537	L	0.57536	1.79	0.80722	D	1	P;P	0.47302	0.893;0.89	B;B	0.42495	0.294;0.389	T	0.01363	-1.1374	10	0.38643	T	0.18	-9.479	15.942	0.79763	1.0:0.0:0.0:0.0	.	819;818	Q9H706;Q9H706-3	FA59A_HUMAN;.	A	818;819	ENSP00000382165:S818A;ENSP00000269209:S819A	ENSP00000269209:S819A	S	-	1	0	FAM59A	28102008	1.000000	0.71417	0.988000	0.46212	0.738000	0.42128	8.878000	0.92393	2.167000	0.68274	0.529000	0.55759	TCA		PASS	0.502	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		42	34	42	34	---	---	---	---
TCEB3B	51224	broad.mit.edu	37	18	44560338	44560338	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr18:44560338A>T	ENST00000332567.4	-	1	1650	c.1298T>A	c.(1297-1299)gTc>gAc	p.V433D	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	433					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V433D(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCTTTCCTGGACAGGAGGCAA	0.567																																						uc002lcr.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(1297-1299)GTC>GAC		elongin A2							82.0	78.0	79.0					18																	44560338		2203	4300	6503	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44560338A>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1298T>A	18.37:g.44560338A>T	ENSP00000331302:p.Val433Asp					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.V433D	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	1651	-			433					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.1298T>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	A	9.282	1.048371	0.19827	.	.	ENSG00000206181	ENST00000332567	T	0.07216	3.21	1.92	1.92	0.25849	.	2.220440	0.02402	N	0.080777	T	0.07279	0.0184	L	0.32530	0.975	0.09310	N	1	B	0.18863	0.031	B	0.10450	0.005	T	0.37337	-0.9710	10	0.11485	T	0.65	-13.0348	5.885	0.18876	1.0:0.0:0.0:0.0	.	433	Q8IYF1	ELOA2_HUMAN	D	433	ENSP00000331302:V433D	ENSP00000331302:V433D	V	-	2	0	TCEB3B	42814336	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	0.413000	0.21148	1.161000	0.42604	0.421000	0.28195	GTC		PASS	0.567	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		171	76	171	76	---	---	---	---
MBD1	4152	broad.mit.edu	37	18	47801500	47801500	+	Splice_Site	SNP	G	G	A	rs115426299	byFrequency	TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr18:47801500G>A	ENST00000591416.1	-	9	1339	c.908C>T	c.(907-909)cCg>cTg	p.P303L	MBD1_ENST00000424334.2_Splice_Site_p.P354L|MBD1_ENST00000398488.1_Splice_Site_p.P303L|MBD1_ENST00000339998.6_Splice_Site_p.P303L|MBD1_ENST00000269468.5_Splice_Site_p.P303L|MBD1_ENST00000353909.3_Splice_Site_p.P254L|MBD1_ENST00000587605.1_Splice_Site_p.P303L|MBD1_ENST00000382948.5_Splice_Site_p.P303L|MBD1_ENST00000588937.1_Splice_Site_p.P303L|MBD1_ENST00000436910.1_Splice_Site_p.P303L|MBD1_ENST00000457839.2_Splice_Site_p.P328L|MBD1_ENST00000398493.1_Splice_Site_p.P303L|MBD1_ENST00000269471.5_Splice_Site_p.P303L|MBD1_ENST00000585595.1_Splice_Site_p.P328L|MBD1_ENST00000590208.1_Splice_Site_p.P303L|MBD1_ENST00000585672.1_Splice_Site_p.P254L|MBD1_ENST00000349085.2_Splice_Site_p.P303L|MBD1_ENST00000347968.3_Splice_Site_p.P303L|MBD1_ENST00000591535.1_Splice_Site_p.P303L|MBD1_ENST00000398495.2_Splice_Site_p.P328L			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	303	Pro-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.P303L(3)|p.P328L(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GGGCCTCACCGGCTCTGTGGG	0.677													G|||	3	0.000599042	0.0023	0.0	5008	,	,		15655	0.0		0.0	False		,,,				2504	0.0					uc010dow.1																			4	Substitution - Missense(4)		lung(4)	ovary(1)|central_nervous_system(1)	2						c.(907-909)CCG>CTG		methyl-CpG binding domain protein 1 isoform 1							35.0	42.0	40.0					18																	47801500		2202	4300	6502	SO:0001630	splice_region_variant	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47801500G>A	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.909+1C>T	18.37:g.47801500G>A						MBD1_uc002lef.2_Missense_Mutation_p.P110L|MBD1_uc002leg.2_Missense_Mutation_p.P254L|MBD1_uc010xdi.1_Missense_Mutation_p.P354L|MBD1_uc002leh.3_Missense_Mutation_p.P303L|MBD1_uc002len.2_Missense_Mutation_p.P303L|MBD1_uc002lei.3_Missense_Mutation_p.P303L|MBD1_uc002lej.3_Missense_Mutation_p.P303L|MBD1_uc002lek.3_Missense_Mutation_p.P254L|MBD1_uc002lel.3_Missense_Mutation_p.P303L|MBD1_uc002lem.3_Missense_Mutation_p.P303L|MBD1_uc010xdj.1_Missense_Mutation_p.P303L|MBD1_uc010xdk.1_Missense_Mutation_p.P328L|MBD1_uc010dox.1_Missense_Mutation_p.P303L|MBD1_uc002leo.2_Missense_Mutation_p.P303L	p.P303L	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN			9	1345	-			303			Pro-rich.		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	c.908C>T	CCDS11943.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	10.30	1.311784	0.23821	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D	0.95205	-3.59;-3.58;-3.48;-3.59;-3.5;-3.61;-3.62;-3.64;-3.61;-3.64;-3.5;-3.48	4.79	1.22	0.21188	.	0.146871	0.31290	N	0.007917	T	0.79305	0.4423	N	0.01576	-0.805	0.34332	D	0.687788	B;B;B;B;B;B;B;B;B;B;B;B	0.10296	0.001;0.001;0.0;0.0;0.001;0.0;0.002;0.001;0.0;0.003;0.0;0.003	B;B;B;B;B;B;B;B;B;B;B;B	0.06405	0.0;0.001;0.0;0.0;0.001;0.0;0.002;0.001;0.0;0.001;0.0;0.001	T	0.70525	-0.4848	10	0.16420	T	0.52	-1.0885	5.8937	0.18927	0.6632:0.0:0.3368:0.0	.	303;354;303;303;303;303;254;303;303;303;328;303	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5;Q9UIS9-3	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.;.	L	303;254;303;303;303;303;303;354;303;303;328;303;303	ENSP00000372407:P303L;ENSP00000269469:P254L;ENSP00000342531:P303L;ENSP00000269468:P303L;ENSP00000285102:P303L;ENSP00000409561:P303L;ENSP00000269471:P303L;ENSP00000408846:P354L;ENSP00000339546:P303L;ENSP00000405268:P328L;ENSP00000381506:P303L;ENSP00000381502:P303L	ENSP00000269468:P303L	P	-	2	0	MBD1	46055498	0.998000	0.40836	1.000000	0.80357	0.745000	0.42441	0.803000	0.27083	0.397000	0.25310	-0.339000	0.08088	CCG		PASS	0.677	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846	Missense_Mutation	13	42	13	42	---	---	---	---
ST8SIA3	51046	broad.mit.edu	37	18	55027340	55027340	+	Silent	SNP	A	A	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr18:55027340A>G	ENST00000324000.3	+	4	3009	c.975A>G	c.(973-975)ggA>ggG	p.G325G		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	325					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.G325G(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GGCCGTTTGGATTTGACCCCA	0.448																																						uc002lgn.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(973-975)GGA>GGG		ST8 alpha-N-acetyl-neuraminide							130.0	118.0	122.0					18																	55027340		2203	4300	6503	SO:0001819	synonymous_variant	51046				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55027340A>G	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.975A>G	18.37:g.55027340A>G							p.G325G	NM_015879	NP_056963	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	4	1332	+			325			Lumenal (Potential).		A8K0F2|Q6B085|Q9NS41	Silent	SNP	ENST00000324000.3	37	c.975A>G	CCDS32834.1																																																																																				PASS	0.448	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		15	45	15	45	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9073731	9073731	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr19:9073731G>T	ENST00000397910.4	-	3	13918	c.13715C>A	c.(13714-13716)tCc>tAc	p.S4572Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4574	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S4572Y(2)|p.S205Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCCATGCTGGAGGCAGGAAC	0.522																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(13714-13716)TCC>TAC		mucin 16							93.0	91.0	91.0					19																	9073731		2082	4216	6298	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9073731G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13715C>A	19.37:g.9073731G>T	ENSP00000381008:p.Ser4572Tyr						p.S4572Y	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	13919	-			4574			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.13715C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.549	-0.092167	0.07053	.	.	ENSG00000181143	ENST00000397910	T	0.24723	1.84	1.83	1.83	0.25207	.	.	.	.	.	T	0.40645	0.1125	L	0.53249	1.67	.	.	.	D	0.65815	0.995	D	0.76071	0.987	T	0.51655	-0.8678	8	0.87932	D	0	.	7.1499	0.25604	0.0:0.0:1.0:0.0	.	4572	B5ME49	.	Y	4572	ENSP00000381008:S4572Y	ENSP00000381008:S4572Y	S	-	2	0	MUC16	8934731	0.000000	0.05858	0.002000	0.10522	0.025000	0.11179	0.097000	0.15168	1.312000	0.45043	0.313000	0.20887	TCC		PASS	0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		12	20	12	20	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9083825	9083825	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr19:9083825A>C	ENST00000397910.4	-	1	8193	c.7990T>G	c.(7990-7992)Tcc>Gcc	p.S2664A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2664	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S2664A(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAATCAAAGGATGTAGCTAAT	0.517																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(7990-7992)TCC>GCC		mucin 16							60.0	58.0	59.0					19																	9083825		2006	4168	6174	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9083825A>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7990T>G	19.37:g.9083825A>C	ENSP00000381008:p.Ser2664Ala						p.S2664A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	8194	-			2664			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.7990T>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	7.647	0.682048	0.14907	.	.	ENSG00000181143	ENST00000397910	T	0.02395	4.31	0.235	0.235	0.15431	.	.	.	.	.	T	0.02267	0.0070	N	0.08118	0	.	.	.	P	0.41597	0.756	P	0.45037	0.467	T	0.44877	-0.9299	7	0.87932	D	0	.	.	.	.	.	2664	B5ME49	.	A	2664	ENSP00000381008:S2664A	ENSP00000381008:S2664A	S	-	1	0	MUC16	8944825	0.029000	0.19370	0.593000	0.28771	0.594000	0.36715	-0.250000	0.08830	0.263000	0.21812	0.260000	0.18958	TCC		PASS	0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		11	14	11	14	---	---	---	---
MAP1S	55201	broad.mit.edu	37	19	17835910	17835910	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr19:17835910G>T	ENST00000324096.4	+	4	507	c.356G>T	c.(355-357)gGg>gTg	p.G119V	MAP1S_ENST00000544059.2_Missense_Mutation_p.G93V|CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	119	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.G119V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GTGTTGGCTGGGCCCTGCCTG	0.612																																						uc002nhe.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(355-357)GGG>GTG		BPY2 interacting protein 1							101.0	99.0	100.0					19																	17835910		2203	4300	6503	SO:0001583	missense	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17835910G>T	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.356G>T	19.37:g.17835910G>T	ENSP00000325313:p.Gly119Val					MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Missense_Mutation_p.G119V|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Missense_Mutation_p.G93V	p.G119V	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN			4	365	+			119			Necessary for the microtubule-organizing center localization.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	c.356G>T	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358026	0.82243	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.04551	3.6;3.6	4.44	4.44	0.53790	.	0.000000	0.52532	D	0.000077	T	0.22475	0.0542	M	0.81341	2.54	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	T	0.01375	-1.1371	10	0.87932	D	0	-40.6708	14.5495	0.68057	0.0:0.0:1.0:0.0	.	93;119;119	B4DH53;A8K940;Q66K74	.;.;MAP1S_HUMAN	V	119;93	ENSP00000325313:G119V;ENSP00000439243:G93V	ENSP00000325313:G119V	G	+	2	0	MAP1S	17696910	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.219000	0.95173	2.014000	0.59158	0.491000	0.48974	GGG		PASS	0.612	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		25	48	25	48	---	---	---	---
CRTC1	23373	broad.mit.edu	37	19	18876308	18876308	+	Silent	SNP	C	C	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr19:18876308C>G	ENST00000321949.8	+	9	1007	c.981C>G	c.(979-981)ccC>ccG	p.P327P	CRTC1_ENST00000338797.6_Silent_p.P343P|CRTC1_ENST00000601916.1_Silent_p.P252P|CRTC1_ENST00000594658.1_Silent_p.P286P	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1									p.P343P(1)|p.P327P(1)	CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						AGGCATCGCCCACCCTGTCCC	0.657																																						uc002nkb.3																		CRTC1/MAML2(516)	2	Substitution - coding silent(2)		lung(2)	salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1)	519						c.(979-981)CCC>CCG		mucoepidermoid carcinoma translocated 1 isoform							63.0	57.0	59.0					19																	18876308		2203	4300	6503	SO:0001819	synonymous_variant	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18876308C>G	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.981C>G	19.37:g.18876308C>G						CRTC1_uc010ebv.2_Silent_p.P343P|CRTC1_uc010ebw.2_Silent_p.P192P|CRTC1_uc002nkc.3_Silent_p.P192P	p.P327P	NM_015321	NP_056136	Q6UUV9	CRTC1_HUMAN			9	1069	+			327			Ser-rich.			Silent	SNP	ENST00000321949.8	37	c.981C>G	CCDS32963.1																																																																																				PASS	0.657	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		9	130	9	130	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22155467	22155467	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr19:22155467G>T	ENST00000397126.4	-	4	2517	c.2369C>A	c.(2368-2370)gCa>gAa	p.A790E	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	790					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.A690E(2)|p.A790E(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AATAAGGATTGCAGATCGGTT	0.363																																						uc002nqp.2																			3	Substitution - Missense(3)		lung(3)	ovary(5)|skin(2)	7						c.(2068-2070)GCA>GAA		zinc finger protein 208							56.0	64.0	61.0					19																	22155467		2105	4247	6352	SO:0001583	missense	7757							g.chr19:22155467G>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2369C>A	19.37:g.22155467G>T	ENSP00000380315:p.Ala790Glu					ZNF208_uc002nqo.1_Intron	p.A690E	NM_007153	NP_009084					5	2218	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2069C>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.805212	0.31961	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.35605	1.3	2.28	1.05	0.20165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34221	0.0890	.	.	.	0.09310	N	1	P	0.43578	0.811	P	0.44990	0.466	T	0.19877	-1.0292	8	0.72032	D	0.01	.	7.5814	0.27967	0.0:0.0:0.5528:0.4472	.	690	O43345	ZN208_HUMAN	E	790;690	ENSP00000380315:A790E	ENSP00000380315:A790E	A	-	2	0	ZNF208	21947307	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	0.975000	0.29449	0.846000	0.35142	0.280000	0.19369	GCA		PASS	0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		20	51	20	51	---	---	---	---
ZNF257	113835	broad.mit.edu	37	19	22271749	22271749	+	Silent	SNP	C	C	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr19:22271749C>T	ENST00000594947.1	+	4	1341	c.1197C>T	c.(1195-1197)gcC>gcT	p.A399A		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	399					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.A399A(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAGAGAAGGCCTACAAATGTG	0.373																																						uc010ecx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1195-1197)GCC>GCT		zinc finger protein 257							47.0	55.0	52.0					19																	22271749		2103	4243	6346	SO:0001819	synonymous_variant	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22271749C>T	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1197C>T	19.37:g.22271749C>T						ZNF257_uc010ecy.2_Silent_p.A367A	p.A399A	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN			4	1366	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	399					B3KPS4|E9PG34|Q8NE34	Silent	SNP	ENST00000594947.1	37	c.1197C>T	CCDS46030.1																																																																																				PASS	0.373	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			6	31	6	31	---	---	---	---
ZNF254	9534	broad.mit.edu	37	19	24309770	24309770	+	Missense_Mutation	SNP	A	A	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr19:24309770A>T	ENST00000357002.4	+	4	1083	c.968A>T	c.(967-969)aAg>aTg	p.K323M	ZNF254_ENST00000342944.6_Missense_Mutation_p.K238M	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	323					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K323M(1)					all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AAACCCTACAAGTGTGAAGAA	0.403																																						uc002nru.2																			1	Substitution - Missense(1)		lung(1)		0						c.(967-969)AAG>ATG		zinc finger protein 254							47.0	47.0	47.0					19																	24309770		2203	4300	6503	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24309770A>T	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.968A>T	19.37:g.24309770A>T	ENSP00000349494:p.Lys323Met					ZNF254_uc010xrk.1_Missense_Mutation_p.K238M	p.K323M	NM_203282	NP_975011	O75437	ZN254_HUMAN			4	1102	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	323			C2H2-type 5.		A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.968A>T	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	A	11.29	1.593989	0.28445	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.58506	0.33;0.33	1.11	-1.41	0.08941	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.65450	0.2692	M	0.70108	2.13	0.09310	N	1	D	0.65815	0.995	D	0.65773	0.938	T	0.55354	-0.8154	9	0.87932	D	0	.	1.9867	0.03438	0.4205:0.29:0.0:0.2895	.	323	O75437	ZN254_HUMAN	M	238;323	ENSP00000445527:K238M;ENSP00000349494:K323M	ENSP00000445527:K238M	K	+	2	0	ZNF254	24101610	0.000000	0.05858	0.001000	0.08648	0.157000	0.22087	-0.681000	0.05191	-0.571000	0.06014	0.254000	0.18369	AAG		PASS	0.403	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		29	44	29	44	---	---	---	---
FFAR2	2867	broad.mit.edu	37	19	35941175	35941175	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr19:35941175C>A	ENST00000599180.2	+	2	639	c.559C>A	c.(559-561)Ctc>Atc	p.L187I	FFAR2_ENST00000246549.2_Missense_Mutation_p.L187I|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	187					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.L187I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GTGCCTGGTGCTCTTCTTCAT	0.587																																					GBM(40;139 809 9833 23358 48736)	uc002nzg.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(559-561)CTC>ATC		free fatty acid receptor 2							116.0	89.0	98.0					19																	35941175		2203	4300	6503	SO:0001583	missense	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35941175C>A	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.559C>A	19.37:g.35941175C>A	ENSP00000473159:p.Leu187Ile					FFAR2_uc010eea.2_Missense_Mutation_p.L187I	p.L187I	NM_005306	NP_005297	O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	639	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		187			Helical; Name=5; (Potential).		B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Missense_Mutation	SNP	ENST00000599180.2	37	c.559C>A	CCDS12461.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461036	0.84317	.	.	ENSG00000126262	ENST00000246549	T	0.72167	-0.63	5.62	5.62	0.85841	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84192	0.5418	M	0.76838	2.35	0.48901	D	0.999729	D	0.89917	1.0	D	0.77557	0.99	D	0.83450	0.0048	10	0.44086	T	0.13	-42.2754	17.5172	0.87777	0.0:1.0:0.0:0.0	.	187	O15552	FFAR2_HUMAN	I	187	ENSP00000246549:L187I	ENSP00000246549:L187I	L	+	1	0	FFAR2	40633015	0.998000	0.40836	0.970000	0.41538	0.959000	0.62525	2.696000	0.47052	2.818000	0.97014	0.655000	0.94253	CTC		PASS	0.587	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		6	113	6	113	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36213498	36213498	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr19:36213498G>A	ENST00000222270.7	+	5	2600	c.2600G>A	c.(2599-2601)cGc>cAc	p.R867H	KMT2B_ENST00000420124.1_Missense_Mutation_p.R867H|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	867					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R867H(1)									CAAGGTCCCCGCATCAAACAT	0.657																																						uc010eei.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(2599-2601)CGC>CAC		myeloid/lymphoid or mixed-lineage leukemia 4							31.0	34.0	33.0					19																	36213498		2021	4171	6192	SO:0001583	missense	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36213498G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2600G>A	19.37:g.36213498G>A	ENSP00000222270:p.Arg867His						p.R867H	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		5	2600	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		867					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.2600G>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409011	0.62399	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.96554	-4.05;-4.05	5.39	5.39	0.77823	.	0.000000	0.39341	N	0.001391	D	0.97495	0.9180	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98021	1.0371	10	0.87932	D	0	.	18.0965	0.89492	0.0:0.0:1.0:0.0	.	867	Q9UMN6	MLL4_HUMAN	H	867	ENSP00000222270:R867H;ENSP00000398837:R867H	ENSP00000222270:R867H	R	+	2	0	AD000671.1	40905338	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.799000	0.91895	2.804000	0.96469	0.655000	0.94253	CGC		PASS	0.657	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		3	9	3	9	---	---	---	---
ZNF568	374900	broad.mit.edu	37	19	37427735	37427735	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr19:37427735G>A	ENST00000333987.7	+	5	729	c.223G>A	c.(223-225)Gat>Aat	p.D75N	ZNF568_ENST00000427117.1_Missense_Mutation_p.D75N|ZNF568_ENST00000415168.1_Missense_Mutation_p.D11N|ZNF568_ENST00000455427.2_Missense_Mutation_p.D11N	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	75	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D11N(1)|p.D75N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTGTATCGAGATGTGATGCT	0.423																																						uc002ofc.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(223-225)GAT>AAT		zinc finger protein 568							110.0	109.0	110.0					19																	37427735		2203	4300	6503	SO:0001583	missense	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37427735G>A	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.223G>A	19.37:g.37427735G>A	ENSP00000334685:p.Asp75Asn					ZNF568_uc010efg.2_Missense_Mutation_p.D61N|ZNF568_uc010xtn.1_5'UTR|ZNF568_uc002ofd.2_5'UTR|ZNF568_uc010efe.2_5'UTR|ZNF568_uc010eff.1_Missense_Mutation_p.D61N	p.D75N	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	738	+	Esophageal squamous(110;0.183)		75			KRAB.		B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	c.223G>A	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889419	0.72524	.	.	ENSG00000198453	ENST00000427117;ENST00000333987;ENST00000415168;ENST00000444991;ENST00000455427	T;T;T;T;T	0.02498	4.27;4.27;4.27;4.27;4.27	4.69	4.69	0.59074	Krueppel-associated box (4);	0.212026	0.23575	N	0.046707	T	0.08980	0.0222	L	0.42686	1.345	0.80722	D	1	D;P;B	0.89917	1.0;0.801;0.145	D;P;B	0.78314	0.991;0.487;0.086	T	0.39881	-0.9592	10	0.26408	T	0.33	.	12.9838	0.58579	0.0:0.0:1.0:0.0	.	11;75;75	B4DS92;C9JZ58;Q3ZCX4	.;.;ZN568_HUMAN	N	75;75;11;75;11	ENSP00000407012:D75N;ENSP00000334685:D75N;ENSP00000394514:D11N;ENSP00000389794:D75N;ENSP00000413396:D11N	ENSP00000334685:D75N	D	+	1	0	ZNF568	42119575	0.993000	0.37304	0.998000	0.56505	0.979000	0.70002	0.889000	0.28282	2.420000	0.82092	0.655000	0.94253	GAT		PASS	0.423	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		4	57	4	57	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	39063910	39063910	+	Missense_Mutation	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr19:39063910G>T	ENST00000359596.3	+	96	14092	c.14092G>T	c.(14092-14094)Gtg>Ttg	p.V4698L	RYR1_ENST00000360985.3_Missense_Mutation_p.V4693L|RYR1_ENST00000355481.4_Missense_Mutation_p.V4693L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4698					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.V4698L(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGACGATGACGTGAAGGGGCA	0.617																																						uc002oit.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(14092-14094)GTG>TTG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						104.0	85.0	91.0					19																	39063910		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39063910G>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14092G>T	19.37:g.39063910G>T	ENSP00000352608:p.Val4698Leu					RYR1_uc002oiu.2_Missense_Mutation_p.V4693L	p.V4698L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		96	14222	+	all_cancers(60;7.91e-06)		4698					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.14092G>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561813	0.45590	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96459	-4.02;-4.02;-4.02	4.52	4.52	0.55395	.	0.089888	0.45126	U	0.000397	D	0.88800	0.6535	N	0.16903	0.455	0.37268	D	0.907275	P;P	0.37955	0.612;0.477	B;B	0.30401	0.115;0.054	D	0.88041	0.2781	10	0.42905	T	0.14	.	5.7539	0.18162	0.2412:0.0:0.7588:0.0	.	4693;4698	P21817-2;P21817	.;RYR1_HUMAN	L	4698;4693;4693	ENSP00000352608:V4698L;ENSP00000347667:V4693L;ENSP00000354254:V4693L	ENSP00000347667:V4693L	V	+	1	0	RYR1	43755750	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.076000	0.64413	2.356000	0.79943	0.462000	0.41574	GTG		PASS	0.617	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			7	17	7	17	---	---	---	---
ZNF235	9310	broad.mit.edu	37	19	44791606	44791606	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr19:44791606C>A	ENST00000291182.4	-	5	2084	c.1982G>T	c.(1981-1983)gGg>gTg	p.G661V	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	661					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)	p.G661V(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				GAATTCTTTCCCACATTCCTC	0.473																																						uc002oza.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1981-1983)GGG>GTG		zinc finger protein 93 homolog							114.0	105.0	108.0					19																	44791606		2203	4300	6503	SO:0001583	missense	9310				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44791606C>A	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.1982G>T	19.37:g.44791606C>A	ENSP00000291182:p.Gly661Val					ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.G657V|ZNF235_uc010xwx.1_Missense_Mutation_p.G575V	p.G661V	NM_004234	NP_004225	Q14590	ZN235_HUMAN			5	2085	-		Prostate(69;0.0352)|all_neural(266;0.116)	661			C2H2-type 14.		B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	c.1982G>T	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057794	0.55325	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	T	0.58358	0.34	4.96	4.96	0.65561	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41823	D	0.000806	T	0.76371	0.3978	M	0.91249	3.19	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81217	-0.1033	10	0.87932	D	0	-34.7461	11.6427	0.51242	0.0:0.9125:0.0:0.0875	.	657;661	Q14590-2;Q14590	.;ZN235_HUMAN	V	661;661;553	ENSP00000291182:G661V	ENSP00000291182:G661V	G	-	2	0	ZNF235	49483446	0.947000	0.32204	0.999000	0.59377	0.878000	0.50629	3.027000	0.49697	2.469000	0.83416	0.305000	0.20034	GGG		PASS	0.473	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			24	72	24	72	---	---	---	---
PPP1R13L	10848	broad.mit.edu	37	19	45895260	45895260	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr19:45895260C>G	ENST00000418234.2	-	8	1771	c.1693G>C	c.(1693-1695)Gag>Cag	p.E565Q	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.E565Q	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	565	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.E565Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGGGACAGCTCTGGCTCCGGC	0.697																																					Pancreas(61;1447 1663 31419 50578)	uc002pbn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1693-1695)GAG>CAG		protein phosphatase 1, regulatory subunit 13							31.0	39.0	36.0					19																	45895260		2198	4292	6490	SO:0001583	missense	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45895260C>G	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.1693G>C	19.37:g.45895260C>G	ENSP00000403902:p.Glu565Gln					PPP1R13L_uc002pbm.2_Missense_Mutation_p.E144Q|PPP1R13L_uc002pbo.2_Missense_Mutation_p.E565Q	p.E565Q	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	8	1770	-		all_neural(266;0.224)|Ovarian(192;0.231)	565			Pro-rich.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	c.1693G>C	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	C	7.577	0.667908	0.14710	.	.	ENSG00000104881	ENST00000418234;ENST00000360957;ENST00000221478	T;T	0.58060	0.36;0.36	4.89	3.86	0.44501	.	0.532304	0.18232	N	0.147539	T	0.35248	0.0925	N	0.19112	0.55	0.25281	N	0.989437	B;B	0.26081	0.141;0.075	B;B	0.27076	0.076;0.026	T	0.18999	-1.0319	10	0.30854	T	0.27	.	8.7977	0.34890	0.0:0.8987:0.0:0.1013	.	565;144	Q8WUF5;A7YME7	IASPP_HUMAN;.	Q	565;565;139	ENSP00000403902:E565Q;ENSP00000354218:E565Q	ENSP00000221478:E139Q	E	-	1	0	PPP1R13L	50587100	0.766000	0.28496	0.885000	0.34714	0.277000	0.26821	3.491000	0.53252	1.293000	0.44690	0.555000	0.69702	GAG		PASS	0.697	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		21	41	21	41	---	---	---	---
SNRPD2	6633	broad.mit.edu	37	19	46190942	46190942	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr19:46190942C>T	ENST00000342669.3	-	3	670	c.226G>A	c.(226-228)Gag>Aag	p.E76K	SNRPD2_ENST00000585392.1_Missense_Mutation_p.E12K|SNRPD2_ENST00000588301.1_Missense_Mutation_p.E76K|SNRPD2_ENST00000590212.1_3'UTR|SNRPD2_ENST00000391932.3_Missense_Mutation_p.E66K|SNRPD2_ENST00000588599.1_Missense_Mutation_p.E66K|SNRPD2_ENST00000587367.1_Missense_Mutation_p.E66K	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	76					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)	poly(A) RNA binding (GO:0044822)	p.E76K(1)		breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		TTGGGTACCTCAGTCCACATC	0.587																																						uc002pcw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(226-228)GAG>AAG		small nuclear ribonucleoprotein D2 isoform 1							147.0	111.0	123.0					19																	46190942		2203	4300	6503	SO:0001583	missense	6633				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding	g.chr19:46190942C>T		CCDS33053.1, CCDS54281.1	19q13.2-q13.3	2011-10-11	2002-08-29		ENSG00000125743	ENSG00000125743			11159	protein-coding gene	gene with protein product	"""snRNP core protein D2"""	601061	"""small nuclear ribonucleoprotein D2 polypeptide (16.5kD)"""	SNRPD1		7527560, 1701240	Standard	NM_004597		Approved	Sm-D2	uc002pcw.3	P62316		ENST00000342669.3:c.226G>A	19.37:g.46190942C>T	ENSP00000342374:p.Glu76Lys					SNRPD2_uc002pcv.2_Missense_Mutation_p.E66K	p.E76K	NM_004597	NP_004588	P62316	SMD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)	3	523	-		Ovarian(192;0.051)|all_neural(266;0.112)	76					A8K797|J3KPM5|P43330	Missense_Mutation	SNP	ENST00000342669.3	37	c.226G>A	CCDS33053.1	.	.	.	.	.	.	.	.	.	.	C	34	5.321914	0.95682	.	.	ENSG00000125743	ENST00000342669;ENST00000391932	T;T	0.42131	0.98;0.98	5.82	5.82	0.92795	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.62816	0.2459	M	0.93062	3.375	0.80722	D	1	P	0.38504	0.634	B	0.43754	0.43	T	0.70699	-0.4800	10	0.72032	D	0.01	.	17.587	0.87984	0.0:1.0:0.0:0.0	.	76	P62316	SMD2_HUMAN	K	76;66	ENSP00000342374:E76K;ENSP00000375798:E66K	ENSP00000342374:E76K	E	-	1	0	SNRPD2	50882782	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.146000	0.77373	2.745000	0.94114	0.655000	0.94253	GAG		PASS	0.587	SNRPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459648.1	NM_004597		7	80	7	80	---	---	---	---
MEIS3	56917	broad.mit.edu	37	19	47912500	47912500	+	Silent	SNP	G	G	A	rs571859937		TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr19:47912500G>A	ENST00000558555.1	-	8	901	c.714C>T	c.(712-714)gaC>gaT	p.D238D	MEIS3_ENST00000441740.2_Silent_p.D221D|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000561293.1_Silent_p.D238D|MEIS3_ENST00000559524.1_Silent_p.D238D|MEIS3_ENST00000561096.1_Silent_p.D326D|MEIS3_ENST00000331559.5_Silent_p.D221D			Q99687	MEIS3_HUMAN	Meis homeobox 3	238	Ser/Thr-rich.			D -> V (in Ref. 5). {ECO:0000305}.	negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.D238D(1)		breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		TGTCCAGCCCGTCTCCTGAGG	0.607													g|||	1	0.000199681	0.0	0.0014	5008	,	,		18038	0.0		0.0	False		,,,				2504	0.0					uc002pgu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(712-714)GAC>GAT		Meis1, myeloid ecotropic viral integration site							36.0	29.0	31.0					19																	47912500		2203	4299	6502	SO:0001819	synonymous_variant	56917					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:47912500G>A	BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"""Homeoboxes / TALE class"""	29537	protein-coding gene	gene with protein product			"""Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"""			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.714C>T	19.37:g.47912500G>A						MEIS3_uc010xyp.1_5'Flank|MEIS3_uc002pgo.2_Silent_p.D37D|MEIS3_uc002pgp.2_Silent_p.D70D|MEIS3_uc002pgq.2_Silent_p.D319D|MEIS3_uc002pgr.2_Silent_p.D106D|MEIS3_uc002pgt.2_Silent_p.D221D|MEIS3_uc002pgv.2_Silent_p.D221D|MEIS3_uc002pgs.2_Silent_p.D238D|MEIS3_uc010eld.2_Silent_p.D238D	p.D238D	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)	8	1161	-		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	238	D -> V (in Ref. 5).		Ser/Thr-rich.		A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Silent	SNP	ENST00000558555.1	37	c.714C>T																																																																																					PASS	0.607	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000417642.1	XM_085929		5	8	5	8	---	---	---	---
GLTSCR2	29997	broad.mit.edu	37	19	48254807	48254807	+	Missense_Mutation	SNP	A	A	C			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr19:48254807A>C	ENST00000246802.5	+	5	667	c.629A>C	c.(628-630)gAt>gCt	p.D210A	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	210				SDNPLDRPLVGQDEFFLE -> LNNPDKPVVWPGCLFPG (in Ref. 3; AAG30413). {ECO:0000305}.		intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.D210A(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		GTTGGCCAGGATGAGTTTTTC	0.607																																					Colon(58;613 1041 9473 10089 15241)	uc002phm.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(628-630)GAT>GCT		glioma tumor suppressor candidate region gene 2							94.0	85.0	88.0					19																	48254807		2203	4300	6503	SO:0001583	missense	29997					nucleolus		g.chr19:48254807A>C	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.629A>C	19.37:g.48254807A>C	ENSP00000246802:p.Asp210Ala					GLTSCR2_uc002phk.2_Missense_Mutation_p.D210A|GLTSCR2_uc002phl.2_Missense_Mutation_p.D210A|GLTSCR2_uc010elj.2_Missense_Mutation_p.D210A|GLTSCR2_uc010elk.1_RNA	p.D210A	NM_015710	NP_056525	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	5	653	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	210	SDNPLDRPLVGQDEFFLE -> LNNPDKPVVWPGCLFPG (in Ref. 3; AAG30413).				Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	37	c.629A>C	CCDS12705.1	.	.	.	.	.	.	.	.	.	.	A	17.58	3.426204	0.62733	.	.	ENSG00000105373	ENST00000246802;ENST00000325566;ENST00000446535	T	0.39997	1.05	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	M	0.83953	2.67	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.989;0.991;0.989	T	0.68352	-0.5431	10	0.66056	D	0.02	-22.1017	10.157	0.42829	1.0:0.0:0.0:0.0	.	210;210;208	Q53YP0;Q9NZM5;Q96CS0	.;GSCR2_HUMAN;.	A	210;210;166	ENSP00000246802:D210A	ENSP00000246802:D210A	D	+	2	0	GLTSCR2	52946619	0.995000	0.38212	0.878000	0.34440	0.711000	0.40976	4.376000	0.59556	1.710000	0.51325	0.379000	0.24179	GAT		PASS	0.607	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		7	16	7	16	---	---	---	---
CACNG8	59283	broad.mit.edu	37	19	54485587	54485587	+	Silent	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr19:54485587G>T	ENST00000270458.2	+	4	865	c.762G>T	c.(760-762)ggG>ggT	p.G254G	MIR935_ENST00000401179.1_RNA	NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	254	Gly-rich.				calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.G254G(1)		kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		gcAGTGGCGGGAGCGGCCCCT	0.741																																						hsa-mir-935|MI0005757																			1	Substitution - coding silent(1)		lung(1)		0															6.0	7.0	7.0					19																	54485587		2132	4069	6201	SO:0001819	synonymous_variant	100126325							g.chr19:54485587G>T	AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"""Calcium channel subunits"""	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.762G>T	19.37:g.54485587G>T						CACNG8_uc002qcs.1_Silent_p.G253G										+								Q9BXT0|Q9BY23	RNA	SNP	ENST00000270458.2	37	c.27G>T	CCDS33104.1																																																																																				PASS	0.741	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139361.3			7	3	7	3	---	---	---	---
NLRP7	199713	broad.mit.edu	37	19	55451047	55451047	+	Silent	SNP	C	C	T	rs559765700		TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr19:55451047C>T	ENST00000590030.1	-	3	1180	c.1140G>A	c.(1138-1140)ggG>ggA	p.G380G	NLRP7_ENST00000588756.1_Silent_p.G380G|NLRP7_ENST00000446217.1_Silent_p.G408G|NLRP7_ENST00000340844.2_Silent_p.G380G|NLRP7_ENST00000328092.5_Silent_p.G380G|NLRP7_ENST00000448121.2_Silent_p.G380G|NLRP7_ENST00000592784.1_Silent_p.G380G			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	380	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.G380G(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CCGGGTCCTCCCCCTTCTCCA	0.682													.|||	1	0.000199681	0.0	0.0	5008	,	,		15516	0.0		0.0	False		,,,				2504	0.001					uc002qih.3																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(1138-1140)GGG>GGA		NACHT, leucine rich repeat and PYD containing 7							20.0	22.0	21.0					19																	55451047		2200	4299	6499	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55451047C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1140G>A	19.37:g.55451047C>T						NLRP7_uc002qig.3_Silent_p.G380G|NLRP7_uc002qii.3_Silent_p.G380G|NLRP7_uc010esk.2_Silent_p.G380G|NLRP7_uc010esl.2_Silent_p.G408G	p.G380G	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	1216	-			380			NACHT.		E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.1140G>A	CCDS33109.1																																																																																				PASS	0.682	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		20	21	20	21	---	---	---	---
CFAP61	26074	broad.mit.edu	37	20	20278858	20278858	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr20:20278858G>A	ENST00000245957.5	+	25	3326	c.3250G>A	c.(3250-3252)Ggg>Agg	p.G1084R	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1084								p.G1084R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGCGAAAAATGGGACTTACTT	0.433																																						uc002wru.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(3250-3252)GGG>AGG		hypothetical protein LOC26074							77.0	75.0	76.0					20																	20278858		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20278858G>A																												ENST00000245957.5:c.3250G>A	20.37:g.20278858G>A	ENSP00000245957:p.Gly1084Arg					C20orf26_uc002wrw.2_RNA	p.G1084R	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	25	3326	+			1084					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.3250G>A	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.223295	0.79464	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.52754	0.65	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71279	-0.4640	10	0.59425	D	0.04	.	19.2438	0.93893	0.0:0.0:1.0:0.0	.	1084	Q8NHU2	CT026_HUMAN	R	1024;1050;1084	ENSP00000245957:G1084R	ENSP00000245957:G1084R	G	+	1	0	C20orf26	20226858	1.000000	0.71417	0.513000	0.27749	0.529000	0.34654	9.534000	0.98061	2.628000	0.89032	0.655000	0.94253	GGG		PASS	0.433	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			8	70	8	70	---	---	---	---
GZF1	64412	broad.mit.edu	37	20	23346140	23346140	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr20:23346140G>A	ENST00000338121.5	+	2	1197	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_Missense_Mutation_p.E374K|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	374					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)	p.E374K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GCACAGCAGCGAGCGCCATTT	0.667																																						uc010gdb.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(1120-1122)GAG>AAG		GDNF-inducible zinc finger protein 1							59.0	57.0	58.0					20																	23346140		2203	4299	6502	SO:0001583	missense	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23346140G>A	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1120G>A	20.37:g.23346140G>A	ENSP00000338290:p.Glu374Lys					GZF1_uc002wsy.2_Missense_Mutation_p.E374K|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Missense_Mutation_p.E374K	p.E374K	NM_022482	NP_071927	Q9H116	GZF1_HUMAN			3	1294	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		374					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	c.1120G>A	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	G	31	5.087496	0.94100	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	T;T	0.34859	1.34;1.34	4.39	4.39	0.52855	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000009	T	0.50565	0.1623	L	0.43554	1.36	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	T	0.52457	-0.8573	10	0.56958	D	0.05	.	16.1162	0.81306	0.0:0.0:1.0:0.0	.	374	Q9H116	GZF1_HUMAN	K	374	ENSP00000338290:E374K;ENSP00000366250:E374K	ENSP00000338290:E374K	E	+	1	0	GZF1	23294140	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.640000	0.98453	2.282000	0.76494	0.508000	0.49915	GAG		PASS	0.667	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		7	143	7	143	---	---	---	---
HCK	3055	broad.mit.edu	37	20	30661123	30661123	+	Splice_Site	SNP	G	G	A	rs149121640		TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr20:30661123G>A	ENST00000520553.1	+	3	368	c.122G>A	c.(121-123)gGg>gAg	p.G41E	HCK_ENST00000375852.2_Splice_Site_p.G62E|HCK_ENST00000518730.1_Splice_Site_p.G41E|HCK_ENST00000538448.1_Splice_Site_p.G41E|HCK_ENST00000534862.1_Splice_Site_p.G42E|HCK_ENST00000375862.2_Splice_Site_p.G62E	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	62					cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.G62E(1)|p.G41E(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	TCCCCACAGGGGCCTAATAGC	0.517																																						uc002wxh.2																			2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9						c.(184-186)GGG>GAG		hemopoietic cell kinase isoform p61HCK		G	GLU/GLY,GLU/GLY,GLU/GLY,GLU/GLY,GLU/GLY,GLU/GLY	0,4406		0,0,2203	125.0	107.0	113.0		122,185,122,125,122,185	3.3	0.4	20	dbSNP_134	113	3,8597	3.0+/-9.4	0,3,4297	yes	missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	HCK	NM_001172129.1,NM_001172130.1,NM_001172131.1,NM_001172132.1,NM_001172133.1,NM_002110.3	98,98,98,98,98,98	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign,benign,benign,benign,benign	41/506,62/526,41/505,42/507,41/506,62/527	30661123	3,13003	2203	4300	6503	SO:0001630	splice_region_variant	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30661123G>A	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.121-1G>A	20.37:g.30661123G>A						HCK_uc010gdy.2_Missense_Mutation_p.G41E|HCK_uc002wxi.2_Missense_Mutation_p.G41E	p.G62E	NM_002110	NP_002101	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	356	+			62					A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	c.185G>A	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684579	0.29872	0.0	3.49E-4	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	T;T;T;T;T;T	0.72725	-0.66;-0.66;-0.66;-0.66;-0.65;-0.68	4.27	3.32	0.38043	Src homology-3 domain (1);	1.387560	0.04914	N	0.453757	T	0.54565	0.1866	N	0.14661	0.345	0.20563	N	0.999882	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.40001	-0.9586	10	0.27785	T	0.31	.	7.968	0.30111	0.1096:0.0:0.8904:0.0	.	41;62	P08631-3;P08631	.;HCK_HUMAN	E	42;41;62;41;41;62	ENSP00000444986:G42E;ENSP00000441169:G41E;ENSP00000365022:G62E;ENSP00000429848:G41E;ENSP00000427757:G41E;ENSP00000365012:G62E	ENSP00000365012:G62E	G	+	2	0	HCK	30124784	0.931000	0.31567	0.389000	0.26208	0.406000	0.30931	1.614000	0.36911	1.390000	0.46547	0.484000	0.47621	GGG		PASS	0.517	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1		Missense_Mutation	47	14	47	14	---	---	---	---
DNMT3B	1789	broad.mit.edu	37	20	31393144	31393144	+	Splice_Site	SNP	G	G	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr20:31393144G>T	ENST00000328111.2	+	21	2553	c.2232G>T	c.(2230-2232)agG>agT	p.R744S	DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000201963.3_Splice_Site_p.R736S|DNMT3B_ENST00000348286.2_Intron|DNMT3B_ENST00000344505.4_Splice_Site_p.R724S|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000353855.2_Splice_Site_p.R724S	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	744	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)	p.R736S(1)|p.R744S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGTTCCCAGGCCCGTGATAG	0.498																																						uc002wyc.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)	5						c.(2230-2232)AGG>AGT		DNA cytosine-5 methyltransferase 3 beta isoform							120.0	112.0	115.0					20																	31393144		2203	4300	6503	SO:0001630	splice_region_variant	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31393144G>T		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.2232-1G>T	20.37:g.31393144G>T						DNMT3B_uc002wyd.2_Missense_Mutation_p.R724S|DNMT3B_uc002wye.2_Intron|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_Intron|DNMT3B_uc010ztz.1_Intron|DNMT3B_uc010zua.1_Intron|DNMT3B_uc002wyf.2_Missense_Mutation_p.R736S|DNMT3B_uc002wyg.2_Intron|DNMT3B_uc010geg.2_Missense_Mutation_p.R43S|DNMT3B_uc010geh.2_Intron	p.R744S	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN			21	2553	+			744					A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.2232G>T	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656068	0.88056	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000344505;ENST00000201963	D;D;T;D	0.96885	-4.16;-4.16;0.97;-4.16	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.97701	0.9246	M	0.78285	2.405	0.80722	D	1	D;D;P	0.64830	0.994;0.994;0.674	P;P;B	0.61201	0.885;0.885;0.202	D	0.97504	1.0062	9	.	.	.	.	17.5547	0.87887	0.0:0.0:1.0:0.0	.	736;724;744	Q9UBC3-6;Q9UBC3-2;Q9UBC3	.;.;DNM3B_HUMAN	S	744;724;724;736	ENSP00000328547:R744S;ENSP00000313397:R724S;ENSP00000345105:R724S;ENSP00000201963:R736S	.	R	+	3	2	DNMT3B	30856805	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.490000	0.73645	2.755000	0.94549	0.655000	0.94253	AGG		PASS	0.498	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892	Missense_Mutation	24	34	24	34	---	---	---	---
SLCO4A1	28231	broad.mit.edu	37	20	61300296	61300296	+	Missense_Mutation	SNP	C	C	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr20:61300296C>A	ENST00000370507.1	+	10	1987	c.1891C>A	c.(1891-1893)Ccc>Acc	p.P631T	RP11-93B14.5_ENST00000433126.1_RNA|SLCO4A1_ENST00000217159.1_Missense_Mutation_p.P631T|RP11-93B14.5_ENST00000411824.1_RNA|RP11-93B14.5_ENST00000451648.1_RNA|SLCO4A1_ENST00000470412.1_3'UTR			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	631					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.P631T(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CATCCCGGGGCCCATCGCCTT	0.652											OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(168;741 2006 10379 40139 45334)	uc002ydb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1891-1893)CCC>ACC		solute carrier organic anion transporter family							34.0	35.0	35.0					20																	61300296		2202	4300	6502	SO:0001583	missense	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61300296C>A	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1891C>A	20.37:g.61300296C>A	ENSP00000359538:p.Pro631Thr		OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1052	SLCO4A1_uc002ydc.1_RNA|LOC100127888_uc002ydd.2_5'Flank|SLCO4A1_uc002yde.1_Missense_Mutation_p.P33T	p.P631T	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		11	2096	+	Breast(26;3.65e-08)		631			Helical; Name=11; (Potential).		Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	ENST00000370507.1	37	c.1891C>A	CCDS13501.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734062	0.89482	.	.	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507;ENST00000342674;ENST00000451793	T;T;T	0.59224	0.28;0.28;0.28	5.04	5.04	0.67666	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.82907	0.5139	H	0.94264	3.515	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.88326	0.2965	10	0.87932	D	0	.	18.3617	0.90376	0.0:1.0:0.0:0.0	.	631	Q96BD0	SO4A1_HUMAN	T	631;631;631;483;60	ENSP00000217159:P631T;ENSP00000359538:P631T;ENSP00000414855:P60T	ENSP00000217159:P631T	P	+	1	0	SLCO4A1	60770741	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	7.243000	0.78219	2.344000	0.79699	0.491000	0.48974	CCC		PASS	0.652	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		4	25	4	25	---	---	---	---
KRTAP12-2	353323	broad.mit.edu	37	21	46086662	46086662	+	Missense_Mutation	SNP	C	C	T	rs200766354		TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr21:46086662C>T	ENST00000360770.3	-	1	182	c.142G>A	c.(142-144)Gtg>Atg	p.V48M	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	48	23 X 5 AA approximate repeats.					keratin filament (GO:0045095)		p.V48M(1)		central_nervous_system(1)|endometrium(1)|lung(3)	5						TTGAAGCTCACGGGCACACAC	0.657																																						uc002zfu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(142-144)GTG>ATG		keratin associated protein 12-2		C	,MET/VAL	0,4376		0,0,2188	63.0	71.0	68.0		,142	-1.7	0.0	21		68	1,8561		0,1,4280	no	intron,missense	TSPEAR,KRTAP12-2	NM_144991.2,NM_181684.2	,21	0,1,6468	TT,TC,CC		0.0117,0.0,0.0077	,possibly-damaging	,48/147	46086662	1,12937	2188	4281	6469	SO:0001583	missense	353323					keratin filament		g.chr21:46086662C>T	AJ566389	CCDS42965.1	21q22.3	2006-03-13			ENSG00000221864	ENSG00000221864		"""Keratin associated proteins"""	20530	protein-coding gene	gene with protein product							Standard	NM_181684		Approved	KRTAP12.2, KAP12.2	uc002zfu.3	P59991	OTTHUMG00000057636	ENST00000360770.3:c.142G>A	21.37:g.46086662C>T	ENSP00000354001:p.Val48Met					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.V48M	NM_181684	NP_859012	P59991	KR122_HUMAN			1	183	-			48			23 X 5 AA approximate repeats.|7.		A6NIS1|A6NMS9|Q0VAS4	Missense_Mutation	SNP	ENST00000360770.3	37	c.142G>A	CCDS42965.1	.	.	.	.	.	.	.	.	.	.	c	5.622	0.299395	0.10622	0.0	1.17E-4	ENSG00000221864	ENST00000360770	T	0.03035	4.07	2.57	-1.72	0.08107	.	.	.	.	.	T	0.04318	0.0119	M	0.69248	2.105	0.09310	N	1	B	0.24618	0.107	B	0.22386	0.039	T	0.43147	-0.9409	9	0.72032	D	0.01	.	0.9803	0.01434	0.169:0.2665:0.3333:0.2311	.	48	P59991	KR122_HUMAN	M	48	ENSP00000354001:V48M	ENSP00000354001:V48M	V	-	1	0	KRTAP12-2	44911090	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.566000	0.02148	-0.472000	0.06881	-1.474000	0.01003	GTG		PASS	0.657	KRTAP12-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128039.1	NM_181684		11	19	11	19	---	---	---	---
KDELR3	11015	broad.mit.edu	37	22	38882080	38882080	+	IGR	SNP	G	G	C			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr22:38882080G>C	ENST00000216014.4	+	0	1728				DDX17_ENST00000381633.3_Missense_Mutation_p.R607G|DDX17_ENST00000444597.1_Missense_Mutation_p.R136G|DDX17_ENST00000396821.3_Missense_Mutation_p.R686G	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)	p.R684G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					TGCCCAGACCGGCCTATCCCA	0.522																																					Ovarian(11;103 529 24120 28493 32980)	uc003avy.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)	4						c.(2056-2058)CGG>GGG		DEAD box polypeptide 17 isoform 3							129.0	118.0	122.0					22																	38882080		2203	4300	6503	SO:0001628	intergenic_variant	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38882080G>C	AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520		22.37:g.38882080G>C						DDX17_uc003avw.3_Missense_Mutation_p.R138G|DDX17_uc010gxp.2_Missense_Mutation_p.R136G|DDX17_uc003avx.3_Missense_Mutation_p.R684G	p.R686G	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN			13	2159	-	Melanoma(58;0.0286)		605					A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Missense_Mutation	SNP	ENST00000216014.4	37	c.2056C>G	CCDS13972.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632444	0.46944	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000415748;ENST00000444597;ENST00000403230;ENST00000404499	T;T;T	0.27890	1.64;1.67;1.65	5.42	5.42	0.78866	.	0.360274	0.25238	N	0.032103	T	0.25419	0.0618	N	0.14661	0.345	0.46298	D	0.998971	P;P;P	0.46327	0.663;0.772;0.876	B;B;P	0.45856	0.145;0.28;0.495	T	0.03240	-1.1057	10	0.17832	T	0.49	-11.4709	19.2201	0.93793	0.0:0.0:1.0:0.0	.	688;684;138	Q59F66;Q92841-4;Q9UQL5	.;.;.	G	686;607;138;136;684;688	ENSP00000380033:R686G;ENSP00000371046:R607G;ENSP00000385536:R684G	ENSP00000371046:R607G	R	-	1	2	DDX17	37212026	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.504000	0.53347	2.524000	0.85096	0.655000	0.94253	CGG		PASS	0.522	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			16	69	16	69	---	---	---	---
MAP3K15	389840	broad.mit.edu	37	X	19387265	19387265	+	Missense_Mutation	SNP	C	C	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chrX:19387265C>T	ENST00000338883.4	-	25	3472	c.3473G>A	c.(3472-3474)gGc>gAc	p.G1158D	MAP3K15_ENST00000469203.2_Missense_Mutation_p.G990D|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.G593D	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1158							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.G633D(1)|p.G1205D(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TGGGGGATAGCCCTCTTCCGC	0.592																																						uc004czk.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|stomach(1)|skin(1)	7						c.(1897-1899)GGC>GAC		mitogen-activated protein kinase kinase kinase							77.0	72.0	74.0					X																	19387265		2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19387265C>T	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3473G>A	X.37:g.19387265C>T	ENSP00000345629:p.Gly1158Asp					MAP3K15_uc004czj.1_Missense_Mutation_p.G593D|MAP3K15_uc004czi.1_Missense_Mutation_p.G92D	p.G633D	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN			26	3535	-	Hepatocellular(33;0.183)		1158					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.1898G>A		.	.	.	.	.	.	.	.	.	.	C	4.544	0.100954	0.08731	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.70986	-0.48;-0.53;-0.49	5.25	2.8	0.32819	.	0.491801	0.23239	N	0.050373	T	0.38665	0.1049	N	0.03224	-0.385	0.20489	N	0.999893	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.22871	-1.0204	10	0.09338	T	0.73	.	5.1555	0.15032	0.0:0.1804:0.1507:0.6689	.	633;1158	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	D	1158;593;990	ENSP00000345629:G1158D;ENSP00000352093:G593D;ENSP00000428356:G990D	ENSP00000345629:G1158D	G	-	2	0	MAP3K15	19297186	0.006000	0.16342	0.029000	0.17559	0.019000	0.09904	0.200000	0.17257	0.183000	0.20059	-0.518000	0.04402	GGC		PASS	0.592	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		24	14	24	14	---	---	---	---
MAGEB4	4115	broad.mit.edu	37	X	30260617	30260617	+	Missense_Mutation	SNP	A	A	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chrX:30260617A>G	ENST00000378982.2	+	1	561	c.365A>G	c.(364-366)tAc>tGc	p.Y122C	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	122	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.Y122C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TTCCTGCTGTACAAGTATAAA	0.438																																						uc004dcb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(364-366)TAC>TGC		melanoma antigen family B, 4							53.0	40.0	44.0					X																	30260617		2202	4300	6502	SO:0001583	missense	4115							g.chrX:30260617A>G		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.365A>G	X.37:g.30260617A>G	ENSP00000368266:p.Tyr122Cys					MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	p.Y122C	NM_002367	NP_002358	O15481	MAGB4_HUMAN			1	449	+			122			MAGE.		B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	c.365A>G	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	A	8.693	0.908000	0.17833	.	.	ENSG00000120289	ENST00000378982	T	0.04706	3.57	3.04	-2.89	0.05665	.	0.597544	0.13913	N	0.354160	T	0.03827	0.0108	L	0.41027	1.25	0.09310	N	1	B	0.18013	0.025	B	0.24848	0.056	T	0.38308	-0.9667	10	0.39692	T	0.17	.	3.8631	0.09004	0.3126:0.406:0.2814:0.0	.	122	O15481	MAGB4_HUMAN	C	122	ENSP00000368266:Y122C	ENSP00000368266:Y122C	Y	+	2	0	MAGEB4	30170538	0.000000	0.05858	0.000000	0.03702	0.445000	0.32107	-0.972000	0.03802	-0.735000	0.04837	0.441000	0.28932	TAC		PASS	0.438	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		4	2	4	2	---	---	---	---
FTHL17	53940	broad.mit.edu	37	X	31089535	31089535	+	Missense_Mutation	SNP	C	C	G			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chrX:31089535C>G	ENST00000359202.3	-	1	635	c.536G>C	c.(535-537)cGc>cCc	p.R179P		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	179					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)	p.R179P(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						CTCTTTGACGCGGCCGCCCAG	0.622																																						uc004dcl.1																			2	Substitution - Missense(2)		lung(2)		0						c.(535-537)CGC>CCC		ferritin, heavy polypeptide-like 17							30.0	29.0	30.0					X																	31089535		2202	4299	6501	SO:0001583	missense	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089535C>G	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.536G>C	X.37:g.31089535C>G	ENSP00000368207:p.Arg179Pro						p.R179P	NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN			1	639	-			179					Q6NT24|Q6NTE2	Missense_Mutation	SNP	ENST00000359202.3	37	c.536G>C	CCDS14227.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.392182	0.25118	.	.	ENSG00000132446	ENST00000359202	T	0.64085	-0.08	3.59	-0.409	0.12378	.	1.238000	0.05406	N	0.541503	T	0.33876	0.0878	N	0.04508	-0.205	0.09310	N	1	P	0.49307	0.922	B	0.38954	0.286	T	0.23762	-1.0179	10	0.59425	D	0.04	.	1.6768	0.02823	0.1645:0.4683:0.1584:0.2088	.	179	Q9BXU8	FHL17_HUMAN	P	179	ENSP00000368207:R179P	ENSP00000368207:R179P	R	-	2	0	FTHL17	30999456	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.495000	0.22483	-0.212000	0.10109	-0.330000	0.08379	CGC		PASS	0.622	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894		14	8	14	8	---	---	---	---
FAM47B	170062	broad.mit.edu	37	X	34961384	34961384	+	Silent	SNP	C	C	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chrX:34961384C>T	ENST00000329357.5	+	1	472	c.436C>T	c.(436-438)Cta>Tta	p.L146L		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	146								p.L146L(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TCCAGATCTCCTACTACAGGT	0.572																																						uc004ddi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(436-438)CTA>TTA		hypothetical protein LOC170062							77.0	68.0	71.0					X																	34961384		2202	4300	6502	SO:0001819	synonymous_variant	170062							g.chrX:34961384C>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.436C>T	X.37:g.34961384C>T							p.L146L	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	454	+			146					Q5JQN5|Q6PIG3	Silent	SNP	ENST00000329357.5	37	c.436C>T	CCDS14236.1																																																																																				PASS	0.572	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		12	10	12	10	---	---	---	---
RPGR	6103	broad.mit.edu	37	X	38145143	38145143	+	Intron	SNP	C	C	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chrX:38145143C>A	ENST00000339363.3	-	14	2688				RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000378505.2_Nonsense_Mutation_p.E1037*|RPGR_ENST00000342811.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)	p.E1037*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						tctccttcctcttcctctcct	0.552																																						uc004ded.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(3109-3111)GAG>TAG		retinitis pigmentosa GTPase regulator isoform C							115.0	83.0	94.0					X																	38145143		2190	4294	6484	SO:0001627	intron_variant	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38145143C>A	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+1203G>T	X.37:g.38145143C>A						RPGR_uc004deb.2_Intron|RPGR_uc004dea.2_Intron|RPGR_uc004dec.2_Intron	p.E1037*	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN			15	3277	-			826			Glu-rich.		B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Nonsense_Mutation	SNP	ENST00000339363.3	37	c.3109G>T		.	.	.	.	.	.	.	.	.	.	c	37	6.277388	0.97435	.	.	ENSG00000156313	ENST00000378505	.	.	.	2.08	-0.699	0.11277	.	0.394179	0.21408	U	0.075026	.	.	.	.	.	.	0.22096	N	0.99936	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.3608	0.11201	0.2145:0.6174:0.0:0.1681	.	.	.	.	X	1037	.	ENSP00000367766:E1037X	E	-	1	0	RPGR	38030087	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	0.520000	0.22878	0.075000	0.16796	0.339000	0.21740	GAG		PASS	0.552	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		3	8	3	8	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73045978	73045978	+	lincRNA	SNP	G	G	C			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chrX:73045978G>C	ENST00000604411.1	+	0	33939				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		GCTGTTGCTGGCAGGTGCTTC	0.478																																						uc004ebn.2																			0					0								Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.							111.0	104.0	106.0					X																	73045978		876	1991	2867			9383							g.chrX:73045978G>C			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73045978G>C						XIST_uc004ebm.1_RNA		NR_003255						1		+									RNA	SNP	ENST00000604411.1	37	c.33939G>C																																																																																					PASS	0.478	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		31	24	31	24	---	---	---	---
CSTF2	1478	broad.mit.edu	37	X	100077360	100077360	+	Silent	SNP	A	A	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chrX:100077360A>T	ENST00000372972.2	+	3	274	c.258A>T	c.(256-258)gcA>gcT	p.A86A	CSTF2_ENST00000415585.2_Silent_p.A86A|SNORA9_ENST00000365361.1_RNA	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	86	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A86A(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						GTGGGAGAGCACTTCGAGTGG	0.458																																						uc004egh.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(256-258)GCA>GCT		cleavage stimulation factor subunit 2							97.0	79.0	85.0					X																	100077360		2203	4300	6503	SO:0001819	synonymous_variant	1478				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding	g.chrX:100077360A>T	BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"""RNA binding motif (RRM) containing"""	2484	protein-coding gene	gene with protein product		300907	"""cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"""			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.258A>T	X.37:g.100077360A>T						CSTF2_uc010nnd.2_Silent_p.A86A|CSTF2_uc004egi.2_Silent_p.A86A	p.A86A	NM_001325	NP_001316	P33240	CSTF2_HUMAN			3	316	+			86			RRM.		Q5H951|Q6LA74|Q8N502	Silent	SNP	ENST00000372972.2	37	c.258A>T	CCDS14473.1																																																																																				PASS	0.458	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1	NM_001325		16	7	16	7	---	---	---	---
CAPN6	827	broad.mit.edu	37	X	110491961	110491961	+	Silent	SNP	G	G	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chrX:110491961G>A	ENST00000324068.1	-	10	1487	c.1320C>T	c.(1318-1320)taC>taT	p.Y440Y	CAPN6_ENST00000541758.1_Silent_p.Y185Y	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	440	Domain III.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)	p.Y440Y(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GCTCCTGGATGTAGAGGTGGT	0.463																																						uc004epc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(1318-1320)TAC>TAT		calpain 6							108.0	96.0	100.0					X																	110491961		2203	4300	6503	SO:0001819	synonymous_variant	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110491961G>A	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1320C>T	X.37:g.110491961G>A						CAPN6_uc011msu.1_Silent_p.Y185Y	p.Y440Y	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN			10	1488	-			440			Domain III.		D3DUY7|Q9UEQ1|Q9UJA8	Silent	SNP	ENST00000324068.1	37	c.1320C>T	CCDS14555.1																																																																																				PASS	0.463	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			17	14	17	14	---	---	---	---
AGTR2	186	broad.mit.edu	37	X	115304285	115304285	+	Missense_Mutation	SNP	G	G	A			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chrX:115304285G>A	ENST00000371906.4	+	3	942	c.752G>A	c.(751-753)cGt>cAt	p.R251H		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	251					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)	p.R251H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	AGGATAACCCGTGACCAAGTC	0.438																																						uc004eqh.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(751-753)CGT>CAT		angiotensin II receptor, type 2							211.0	150.0	171.0					X																	115304285		2203	4300	6503	SO:0001583	missense	186				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	g.chrX:115304285G>A	AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"""GPCR / Class A : Angiotensin receptors"""	338	protein-coding gene	gene with protein product		300034	"""angiotensin receptor 2"""			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.752G>A	X.37:g.115304285G>A	ENSP00000360973:p.Arg251His						p.R251H	NM_000686	NP_000677	P50052	AGTR2_HUMAN			3	959	+			251			Cytoplasmic (Potential).		B2R9V1|Q13016|Q6FGY7	Missense_Mutation	SNP	ENST00000371906.4	37	c.752G>A	CCDS14569.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.363299	0.61513	.	.	ENSG00000180772	ENST00000371906	T	0.72725	-0.68	4.78	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.146210	0.44483	D	0.000444	D	0.83339	0.5233	M	0.80332	2.49	0.44956	D	0.997978	D	0.89917	1.0	D	0.68192	0.956	D	0.85761	0.1349	10	0.66056	D	0.02	-6.4278	14.152	0.65392	0.0:0.0:1.0:0.0	.	251	P50052	AGTR2_HUMAN	H	251	ENSP00000360973:R251H	ENSP00000360973:R251H	R	+	2	0	AGTR2	115218313	1.000000	0.71417	0.998000	0.56505	0.784000	0.44337	4.976000	0.63785	2.210000	0.71456	0.506000	0.49869	CGT		PASS	0.438	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686		25	35	25	35	---	---	---	---
STARD4	134429	broad.mit.edu	37	5	110835780	110835780	+	Frame_Shift_Del	DEL	T	T	-			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr5:110835780delT	ENST00000296632.3	-	6	556	c.422delA	c.(421-423)aagfs	p.K141fs	STARD4_ENST00000511569.1_5'Flank|STARD4_ENST00000512160.1_3'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	141	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		TTCTGGTCTCTTTTCATCCCA	0.338																																						uc003kph.1																			0				ovary(1)	1						c.(421-423)AAGfs		StAR-related lipid transfer (START) domain							61.0	60.0	60.0					5																	110835780		2202	4300	6502	SO:0001589	frameshift_variant	134429				lipid transport		lipid binding	g.chr5:110835780delT	AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211		"""StAR-related lipid transfer (START) domain containing"""	18058	protein-coding gene	gene with protein product		607049	"""START domain containing 4, sterol regulated"""			12011452	Standard	NM_139164		Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.422delA	5.37:g.110835780delT	ENSP00000296632:p.Lys141fs					STARD4_uc010jbw.1_Frame_Shift_Del_p.K43fs|STARD4_uc010jbx.1_Frame_Shift_Del_p.K43fs|STARD4_uc003kpi.1_RNA	p.K141fs	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)	6	506	-		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)	141			START.		Q86TN9	Frame_Shift_Del	DEL	ENST00000296632.3	37	c.422delA	CCDS4104.1																																																																																					0.338	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250720.1	NM_139164		40	20	40	20	---	---	---	---
TSC1	7248	broad.mit.edu	37	9	135785964	135785964	+	Frame_Shift_Del	DEL	G	G	-	rs369642207|rs118203506		TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr9:135785964delG	ENST00000298552.3	-	12	1478	c.1257delC	c.(1255-1257)cccfs	p.P419fs	TSC1_ENST00000440111.2_Frame_Shift_Del_p.P419fs|TSC1_ENST00000545250.1_Frame_Shift_Del_p.P368fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	419					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GCACCTTCCTGGGGGGTGTGA	0.562			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc004cca.2			yes	Rec		Tuberous sclerosis 1	9	9q34	7248	D|Mis|N|F|S	tuberous sclerosis 1 gene			"""E, O"""		hamartoma|renal cell			1	Unknown(1)	p.?(1)	bone(1)	lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14	GRCh37	CD991903	TSC1	D	rs118203506	c.(1255-1257)CCCfs		tuberous sclerosis 1 protein isoform 1							112.0	116.0	115.0					9																	135785964		2203	4300	6503	SO:0001589	frameshift_variant	7248	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135785964delG	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.1257delC	9.37:g.135785964delG	ENSP00000298552:p.Pro419fs					TSC1_uc004ccb.3_Frame_Shift_Del_p.P418fs|TSC1_uc011mcq.1_Frame_Shift_Del_p.P368fs|TSC1_uc011mcr.1_Intron|TSC1_uc011mcs.1_Frame_Shift_Del_p.P298fs|TSC1_uc004ccc.1_Frame_Shift_Del_p.P419fs	p.P419fs	NM_000368	NP_000359	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	12	1491	-			419					B7Z897|Q5VVN5	Frame_Shift_Del	DEL	ENST00000298552.3	37	c.1257delC	CCDS6956.1																																																																																					0.562	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			70	32	70	32	---	---	---	---
UMOD	7369	broad.mit.edu	37	16	20348632	20348633	+	Frame_Shift_Ins	INS	-	-	T			TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chr16:20348632_20348633insT	ENST00000570689.1	-	8	1866_1867	c.1720_1721insA	c.(1720-1722)atgfs	p.M574fs	UMOD_ENST00000396134.2_Frame_Shift_Ins_p.M607fs|UMOD_ENST00000396142.2_Frame_Shift_Ins_p.M574fs|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000302509.4_Frame_Shift_Ins_p.M574fs|UMOD_ENST00000424589.1_Frame_Shift_Ins_p.M607fs|UMOD_ENST00000396138.4_Frame_Shift_Ins_p.M623fs			P07911	UROM_HUMAN	uromodulin	574	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CTTTTCATTCATGGTGTCACAG	0.48																																						uc002dgz.2																			0				ovary(1)|skin(1)	2						c.(1720-1722)ATGfs		uromodulin precursor																																				SO:0001589	frameshift_variant	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20348632_20348633insT	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1721dupA	16.37:g.20348633_20348633dupT	ENSP00000460548:p.Met574fs					UMOD_uc002dha.2_Frame_Shift_Ins_p.M574fs|UMOD_uc002dhb.2_Frame_Shift_Ins_p.M607fs	p.M574fs	NM_003361	NP_003352	P07911	UROM_HUMAN			8	1849_1850	-			574			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Frame_Shift_Ins	INS	ENST00000570689.1	37	c.1720_1721insA	CCDS10583.1																																																																																					0.480	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			14	8	14	8	---	---	---	---
FAM47A	158724	broad.mit.edu	37	X	34148741	34148779	+	In_Frame_Del	DEL	CGACGACTCTTGGGAAGCTCCGGGCGGAGACTGGACACT	CGACGACTCTTGGGAAGCTCCGGGCGGAGACTGGACACT	-	rs45524343|rs45527437|rs368188314|rs188724518|rs45577239|rs183960907		TCGA-22-5478-01A-01D-1632-08	TCGA-22-5478-11A-11D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0ac704eb-d722-4c27-bfb4-fea6ca7af240	b903e396-c3d3-43e6-8742-3f99bb216ea2	g.chrX:34148741_34148779delCGACGACTCTTGGGAAGCTCCGGGCGGAGACTGGACACT	ENST00000346193.3	-	1	1668_1706	c.1617_1655delAGTGTCCAGTCTCCGCCCGGAGCTTCCCAAGAGTCGTCG	c.(1615-1656)cgagtgtccagtctccgcccggagcttcccaagagtcgtcgg>cgg	p.539_552RVSSLRPELPKSRR>R		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	539										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACTGGACACCCGACGACTCTTGGGAAGCTCCGGGCGGAGACTGGACACTCGACGAGTCT	0.611																																						uc004ddg.2																			0				ovary(4)|central_nervous_system(1)	5						c.(1615-1656)CGAGTGTCCAGTCTCCGCCCGGAGCTTCCCAAGAGTCGTCGG>CGG		hypothetical protein LOC158724																																				SO:0001651	inframe_deletion	158724							g.chrX:34148741_34148779delCGACGACTCTTGGGAAGCTCCGGGCGGAGACTGGACACT	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1617_1655delAGTGTCCAGTCTCCGCCCGGAGCTTCCCAAGAGTCGTCG	X.37:g.34148741_34148779delCGACGACTCTTGGGAAGCTCCGGGCGGAGACTGGACACT	ENSP00000345029:p.Arg539_Arg551del						p.539_552RVSSLRPELPKSRR>R	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	1650_1688	-			539_552					A8K8I9|Q8TAA0	In_Frame_Del	DEL	ENST00000346193.3	37	c.1617_1655delAGTGTCCAGTCTCCGCCCGGAGCTTCCCAAGAGTCGTCG	CCDS43926.1																																																																																					0.611	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		28	16	28	16	---	---	---	---
