#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
RNF207	388591	broad.mit.edu	37	1	6272365	6272365	+	Silent	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:6272365G>T	ENST00000377939.4	+	14	1498	c.1371G>T	c.(1369-1371)tcG>tcT	p.S457S	RNF207_ENST00000377948.2_3'UTR	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	457						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S457S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AGCACCACTCGCTCATCAAGG	0.607																																						uc001amg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1369-1371)TCG>TCT		ring finger protein 207							85.0	94.0	91.0					1																	6272365		2160	4248	6408	SO:0001819	synonymous_variant	388591					intracellular	zinc ion binding	g.chr1:6272365G>T	AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"""RING-type (C3HC4) zinc fingers"""	32947	protein-coding gene	gene with protein product	"""OTTHUMG00000001089"""		"""chromosome 1 open reading frame 188"""	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.1371G>T	1.37:g.6272365G>T						RNF207_uc010nzp.1_RNA	p.S457S	NM_207396	NP_997279	Q6ZRF8	RN207_HUMAN		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	14	1545	+	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	457			Potential.		A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Silent	SNP	ENST00000377939.4	37	c.1371G>T	CCDS59.2																																																																																				PASS	0.607	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003669.2	NM_207396		11	59	11	59	---	---	---	---
PIK3CD	5293	broad.mit.edu	37	1	9714484	9714484	+	Intron	SNP	T	T	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:9714484T>A	ENST00000377346.4	+	1	58				PIK3CD_ENST00000536656.1_Intron|C1orf200_ENST00000377320.3_Missense_Mutation_p.Q4L	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta						adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.Q4L(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GCAGGCAGACTGGGAGGGCAT	0.572																																						uc001aqc.3																			1	Substitution - Missense(1)		lung(1)		0						c.(10-12)CAG>CTG		RecName: Full=Putative uncharacterized protein C1orf200;							44.0	45.0	45.0					1																	9714484		1913	4122	6035	SO:0001627	intron_variant	644997							g.chr1:9714484T>A		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.-138+2624T>A	1.37:g.9714484T>A						PIK3CD_uc001aqa.2_Intron|PIK3CD_uc001aqb.3_Intron	p.Q4L	NR_027045					UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419)	1	161	-	all_lung(157;0.222)	Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)						A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.11A>T	CCDS104.1	.	.	.	.	.	.	.	.	.	.	T	3.048	-0.195967	0.06259	.	.	ENSG00000179840	ENST00000377320	.	.	.	1.94	-3.87	0.04218	.	.	.	.	.	T	0.25975	0.0633	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18618	-1.0331	7	0.72032	D	0.01	.	3.8501	0.08951	0.2423:0.0:0.1484:0.6093	.	4	Q5SR53	CA200_HUMAN	L	4	.	ENSP00000366537:Q4L	Q	-	2	0	C1orf200	9637071	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.262000	0.01175	-1.496000	0.01828	0.459000	0.35465	CAG		PASS	0.572	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		11	63	11	63	---	---	---	---
CLCNKB	1188	broad.mit.edu	37	1	16375649	16375649	+	Missense_Mutation	SNP	C	C	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:16375649C>G	ENST00000375679.4	+	8	801	c.690C>G	c.(688-690)caC>caG	p.H230Q	CLCNKB_ENST00000375667.3_Missense_Mutation_p.H61Q	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	230					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)	p.H230Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCTTCCCACTTCTCTGTCT	0.637																																						uc001axw.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(688-690)CAC>CAG		chloride channel Kb isoform 1							99.0	104.0	102.0					1																	16375649		2203	4300	6503	SO:0001583	missense	1188				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16375649C>G	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.690C>G	1.37:g.16375649C>G	ENSP00000364831:p.His230Gln					FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.H230Q|CLCNKB_uc001axy.3_Missense_Mutation_p.H61Q	p.H230Q	NM_000085	NP_000076	P51801	CLCKB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	8	770	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	230					B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP	ENST00000375679.4	37	c.690C>G	CCDS168.1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.061045	0.76074	.	.	ENSG00000184908	ENST00000375679;ENST00000375667	D;D	0.93906	-3.31;-3.31	4.0	4.0	0.46444	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.95921	0.8672	M	0.67625	2.065	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96553	0.9409	10	0.87932	D	0	.	15.4697	0.75432	0.0:1.0:0.0:0.0	.	61;230	Q5T5Q7;P51801	.;CLCKB_HUMAN	Q	230;61	ENSP00000364831:H230Q;ENSP00000364819:H61Q	ENSP00000364819:H61Q	H	+	3	2	CLCNKB	16248236	0.974000	0.33945	1.000000	0.80357	0.998000	0.95712	2.398000	0.44486	1.955000	0.56771	0.561000	0.74099	CAC		PASS	0.637	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		14	133	14	133	---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22175404	22175404	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:22175404G>A	ENST00000374695.3	-	58	7646	c.7567C>T	c.(7567-7569)Cgc>Tgc	p.R2523C	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2523	Ig-like C2-type 10.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.R2523C(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCACTAAGGCGCTGCTGGATG	0.632																																						uc001bfj.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(7567-7569)CGC>TGC		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						121.0	117.0	118.0					1																	22175404		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22175404G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.7567C>T	1.37:g.22175404G>A	ENSP00000363827:p.Arg2523Cys					HSPG2_uc009vqd.2_Missense_Mutation_p.R2524C	p.R2523C	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	58	7607	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2523			Ig-like C2-type 10.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.7567C>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925867	0.52759	.	.	ENSG00000142798	ENST00000374695	T	0.76709	-1.04	4.44	3.51	0.40186	.	0.752296	0.11047	N	0.605435	T	0.79375	0.4435	M	0.69248	2.105	0.34438	D	0.69929	D;D	0.63880	0.98;0.993	P;B	0.48677	0.586;0.431	T	0.80944	-0.1156	10	0.49607	T	0.09	.	9.7236	0.40317	0.0:0.0:0.6264:0.3736	.	463;2523	Q59EG0;P98160	.;PGBM_HUMAN	C	2523	ENSP00000363827:R2523C	ENSP00000363827:R2523C	R	-	1	0	HSPG2	22047991	0.000000	0.05858	0.953000	0.39169	0.863000	0.49368	0.316000	0.19469	1.055000	0.40461	0.561000	0.74099	CGC		PASS	0.632	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		16	112	16	112	---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22181477	22181477	+	Splice_Site	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:22181477C>A	ENST00000374695.3	-	48	6077		c.e48-1		HSPG2_ENST00000430507.1_Splice_Site	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2						angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.?(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CTGACCGGGCCTGCCGTGGGT	0.652																																						uc001bfj.2																			1	Unknown(1)		lung(1)	ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.e48-1		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						57.0	57.0	57.0					1																	22181477		2203	4300	6503	SO:0001630	splice_region_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22181477C>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.5998-1G>T	1.37:g.22181477C>A						HSPG2_uc009vqd.2_Splice_Site_p.A2001_splice	p.A2000_splice	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	48	6038	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)						Q16287|Q5SZI3|Q9H3V5	Splice_Site	SNP	ENST00000374695.3	37	c.5998_splice	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.185407	0.38609	.	.	ENSG00000142798	ENST00000374695	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7822	0.85566	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HSPG2	22054064	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	6.675000	0.74493	2.572000	0.86782	0.491000	0.48974	.		PASS	0.652	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529	Intron	5	49	5	49	---	---	---	---
C1QB	713	broad.mit.edu	37	1	22987582	22987582	+	Silent	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:22987582C>T	ENST00000314933.6	+	3	597	c.465C>T	c.(463-465)ccC>ccT	p.P155P	C1QB_ENST00000509305.1_Silent_p.P153P	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	155	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)		p.P155P(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATTATGAGCCCCGCAGTGGCA	0.592																																						uc001bgd.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(463-465)CCC>CCT		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						120.0	108.0	112.0					1																	22987582		2203	4300	6503	SO:0001819	synonymous_variant	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22987582C>T	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.465C>T	1.37:g.22987582C>T							p.P155P	NM_000491	NP_000482	P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	597	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	155			C1q.		Q5T959|Q96H17	Silent	SNP	ENST00000314933.6	37	c.465C>T	CCDS228.1																																																																																				PASS	0.592	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000491		10	89	10	89	---	---	---	---
HDAC1	3065	broad.mit.edu	37	1	32796447	32796447	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:32796447G>T	ENST00000373548.3	+	9	1001	c.917G>T	c.(916-918)cGt>cTt	p.R306L	HDAC1_ENST00000490081.1_3'UTR|HDAC1_ENST00000373541.2_Missense_Mutation_p.R113L	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	306	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|mitotic cell cycle (GO:0000278)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deacetylation (GO:0006476)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|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)|repressing transcription factor binding (GO:0070491)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R306L(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	TACACCATTCGTAACGTTGCC	0.562																																						uc001bvb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(916-918)CGT>CTT		histone deacetylase 1	Vorinostat(DB02546)						150.0	124.0	132.0					1																	32796447		2203	4300	6503	SO:0001583	missense	3065				anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein 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)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity	g.chr1:32796447G>T	D50405	CCDS360.1	1p34	2008-02-05			ENSG00000116478	ENSG00000116478			4852	protein-coding gene	gene with protein product		601241		RPD3L1		8602529	Standard	NM_004964		Approved	HD1, GON-10	uc001bvb.1	Q13547	OTTHUMG00000007529	ENST00000373548.3:c.917G>T	1.37:g.32796447G>T	ENSP00000362649:p.Arg306Leu					HDAC1_uc010ohf.1_Missense_Mutation_p.R277L|HDAC1_uc001bvc.1_Missense_Mutation_p.R62L	p.R306L	NM_004964	NP_004955	Q13547	HDAC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	9	980	+		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)	306			Histone deacetylase.		Q92534	Missense_Mutation	SNP	ENST00000373548.3	37	c.917G>T	CCDS360.1	.	.	.	.	.	.	.	.	.	.	G	33	5.229179	0.95173	.	.	ENSG00000116478	ENST00000373548;ENST00000373541	T;T	0.70164	-0.46;-0.46	5.03	5.03	0.67393	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.82632	0.5079	H	0.95187	3.635	0.80722	D	1	P	0.47677	0.899	P	0.48921	0.595	D	0.88588	0.3141	10	0.87932	D	0	-1.6375	18.746	0.91792	0.0:0.0:1.0:0.0	.	306	Q13547	HDAC1_HUMAN	L	306;113	ENSP00000362649:R306L;ENSP00000362642:R113L	ENSP00000362642:R113L	R	+	2	0	HDAC1	32569034	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.835000	0.99442	2.504000	0.84457	0.655000	0.94253	CGT		PASS	0.562	HDAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019815.3	NM_004964		14	72	14	72	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34180320	34180320	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:34180320C>A	ENST00000373381.4	-	21	3449	c.3273G>T	c.(3271-3273)aaG>aaT	p.K1091N		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1051	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K1051N(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACTGCAAGCCCTTCCGGATGC	0.652																																						uc001bxn.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(3151-3153)AAG>AAT		CUB and Sushi multiple domains 2							62.0	64.0	63.0					1																	34180320		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34180320C>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.3273G>T	1.37:g.34180320C>A	ENSP00000362479:p.Lys1091Asn					CSMD2_uc001bxm.1_Missense_Mutation_p.K1091N	p.K1051N	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			21	3182	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1051			Sushi 6.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.3153G>T		.	.	.	.	.	.	.	.	.	.	C	14.48	2.549069	0.45383	.	.	ENSG00000121904	ENST00000373381	T	0.66099	-0.19	5.85	4.91	0.64330	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.51958	0.1705	N	0.04090	-0.28	0.80722	D	1	P;P	0.46987	0.888;0.578	P;P	0.60236	0.871;0.83	T	0.50466	-0.8825	10	0.16896	T	0.51	.	9.6117	0.39668	0.0:0.8371:0.0:0.1629	.	1051;1091	Q7Z408;E7EUA6	CSMD2_HUMAN;.	N	1091	ENSP00000362479:K1091N	ENSP00000241312:K1051N	K	-	3	2	CSMD2	33952907	0.920000	0.31207	1.000000	0.80357	0.982000	0.71751	0.086000	0.14935	1.400000	0.46741	0.655000	0.94253	AAG		PASS	0.652	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		24	62	24	62	---	---	---	---
PABPC4	8761	broad.mit.edu	37	1	40031023	40031023	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:40031023C>T	ENST00000372857.3	-	8	1792	c.1000G>A	c.(1000-1002)Ggg>Agg	p.G334R	SNORA55_ENST00000364587.1_RNA|PABPC4_ENST00000372862.3_Missense_Mutation_p.G334R|PABPC4_ENST00000372856.3_Missense_Mutation_p.G334R|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372858.3_Missense_Mutation_p.G334R	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	334	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)	p.G334R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AAGCCAAACCCTTTGCTTCTT	0.488																																						uc010oiv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1000-1002)GGG>AGG		poly A binding protein, cytoplasmic 4 isoform 2							71.0	68.0	69.0					1																	40031023		2203	4300	6503	SO:0001583	missense	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40031023C>T	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1000G>A	1.37:g.40031023C>T	ENSP00000361948:p.Gly334Arg					PABPC4_uc001cdl.2_Missense_Mutation_p.G334R|PABPC4_uc001cdm.2_Missense_Mutation_p.G334R	p.G334R	NM_003819	NP_003810	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		8	1898	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	334			RRM 4.		B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	37	c.1000G>A	CCDS438.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155107	0.94686	.	.	ENSG00000090621	ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	6.16	5.25	0.73442	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.53045	0.1772	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.991;0.998;0.993	T	0.54470	-0.8289	10	0.87932	D	0	.	15.9802	0.80102	0.0:0.9349:0.0:0.0651	.	334;334;334	Q13310;Q13310-2;Q4VC03	PABP4_HUMAN;.;.	R	334	ENSP00000361953:G334R;ENSP00000361949:G334R;ENSP00000361948:G334R;ENSP00000361947:G334R	ENSP00000361947:G334R	G	-	1	0	PABPC4	39803610	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.060000	0.71141	2.937000	0.99478	0.650000	0.86243	GGG		PASS	0.488	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		14	84	14	84	---	---	---	---
KDM4A	9682	broad.mit.edu	37	1	44121382	44121382	+	Missense_Mutation	SNP	A	A	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:44121382A>G	ENST00000372396.3	+	3	393	c.259A>G	c.(259-261)Ata>Gta	p.I87V	KDM4A_ENST00000463151.1_3'UTR	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	87					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I87V(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TCAGTACAACATACAGAAGAA	0.488																																						uc001cjx.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(259-261)ATA>GTA		jumonji domain containing 2A							92.0	80.0	84.0					1																	44121382		2203	4300	6503	SO:0001583	missense	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44121382A>G	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.259A>G	1.37:g.44121382A>G	ENSP00000361473:p.Ile87Val					KDM4A_uc010oki.1_Missense_Mutation_p.I87V	p.I87V	NM_014663	NP_055478	O75164	KDM4A_HUMAN			3	425	+			87					Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	c.259A>G	CCDS491.1	.	.	.	.	.	.	.	.	.	.	A	18.89	3.720181	0.68844	.	.	ENSG00000066135	ENST00000372396	T	0.38722	1.12	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.50905	0.1643	L	0.39147	1.195	0.80722	D	1	P;B	0.37612	0.602;0.001	P;B	0.53102	0.718;0.003	T	0.44997	-0.9291	10	0.33141	T	0.24	-5.1787	15.0736	0.72059	1.0:0.0:0.0:0.0	.	87;87	B4DT38;O75164	.;KDM4A_HUMAN	V	87	ENSP00000361473:I87V	ENSP00000361473:I87V	I	+	1	0	KDM4A	43893969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.327000	0.96396	1.978000	0.57642	0.455000	0.32223	ATA		PASS	0.488	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		10	75	10	75	---	---	---	---
ZSWIM5	57643	broad.mit.edu	37	1	45484728	45484728	+	Missense_Mutation	SNP	T	T	C			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:45484728T>C	ENST00000359600.5	-	14	3161	c.2956A>G	c.(2956-2958)Att>Gtt	p.I986V		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	986						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)	p.I986V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TCAATGGCAATCTGGTAGGCT	0.547											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001cnd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2956-2958)ATT>GTT		zinc finger, SWIM domain containing 5							93.0	93.0	93.0					1																	45484728		2130	4253	6383	SO:0001583	missense	57643						zinc ion binding	g.chr1:45484728T>C	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.2956A>G	1.37:g.45484728T>C	ENSP00000352614:p.Ile986Val		OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	932		p.I986V	NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN			14	3184	-	Acute lymphoblastic leukemia(166;0.155)		986					Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	c.2956A>G	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.599383	0.46318	.	.	ENSG00000162415	ENST00000359600	T	0.47869	0.83	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.59238	0.2179	L	0.61387	1.9	0.54753	D	0.999989	D	0.53619	0.961	P	0.55161	0.77	T	0.61997	-0.6947	10	0.49607	T	0.09	-13.5932	14.9365	0.70960	0.0:0.0:0.0:1.0	.	986	Q9P217	ZSWM5_HUMAN	V	986	ENSP00000352614:I986V	ENSP00000352614:I986V	I	-	1	0	ZSWIM5	45257315	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.225000	0.72271	2.068000	0.61886	0.454000	0.30748	ATT		PASS	0.547	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		27	129	27	129	---	---	---	---
FAAH	2166	broad.mit.edu	37	1	46871137	46871137	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:46871137G>T	ENST00000243167.8	+	4	622	c.538G>T	c.(538-540)Gtg>Ttg	p.V180L	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	180					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)	p.V180L(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GCAGGGTGCCGTGCCCTTCGT	0.667																																						uc001cpu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(538-540)GTG>TTG		fatty acid amide hydrolase	Propofol(DB00818)|Thiopental(DB00599)						111.0	104.0	106.0					1																	46871137		2203	4300	6503	SO:0001583	missense	2166				fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity	g.chr1:46871137G>T	U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.538G>T	1.37:g.46871137G>T	ENSP00000243167:p.Val180Leu					FAAH_uc001cpv.2_5'Flank	p.V180L	NM_001441	NP_001432	O00519	FAAH1_HUMAN			4	620	+	Acute lymphoblastic leukemia(166;0.155)		180			Cytoplasmic (By similarity).		D3DQ19|Q52M86|Q5TDF8	Missense_Mutation	SNP	ENST00000243167.8	37	c.538G>T	CCDS535.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007096	0.35415	.	.	ENSG00000117480	ENST00000243167	T	0.59638	0.25	4.43	1.23	0.21249	Amidase signature domain (2);	0.390994	0.25272	N	0.031868	T	0.44159	0.1280	L	0.53729	1.69	0.27864	N	0.940271	B	0.16396	0.017	B	0.23419	0.046	T	0.41627	-0.9498	10	0.52906	T	0.07	-26.243	0.1559	0.00098	0.2957:0.2:0.2766:0.2277	.	180	O00519	FAAH1_HUMAN	L	180	ENSP00000243167:V180L	ENSP00000243167:V180L	V	+	1	0	FAAH	46643724	0.810000	0.29049	0.551000	0.28230	0.888000	0.51559	1.492000	0.35594	0.486000	0.27676	0.313000	0.20887	GTG		PASS	0.667	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021443.1	NM_001441		28	128	28	128	---	---	---	---
EFCAB14	9813	broad.mit.edu	37	1	47154048	47154048	+	Nonsense_Mutation	SNP	T	T	A	rs371300257		TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:47154048T>A	ENST00000371933.3	-	7	1940	c.964A>T	c.(964-966)Aaa>Taa	p.K322*	EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14-AS1_ENST00000418985.1_RNA|EFCAB14_ENST00000544071.1_Intron|EFCAB14_ENST00000484461.1_5'UTR	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	322							calcium ion binding (GO:0005509)	p.K322*(1)									AGGTTTGCTTTCTTTTCTACC	0.418																																						uc001cqk.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(964-966)AAA>TAA		hypothetical protein LOC9813							311.0	253.0	273.0					1																	47154048		2203	4300	6503	SO:0001587	stop_gained	9813						calcium ion binding	g.chr1:47154048T>A	AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"""EF-hand domain containing"""	29051	protein-coding gene	gene with protein product			"""KIAA0494"""	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.964A>T	1.37:g.47154048T>A	ENSP00000361001:p.Lys322*					KIAA0494_uc010omh.1_Intron|KIAA0494_uc010omj.1_Intron|KIAA0494_uc001cql.1_Nonsense_Mutation_p.K322*	p.K322*	NM_014774	NP_055589	O75071	K0494_HUMAN			7	1941	-	Acute lymphoblastic leukemia(166;0.155)		322					D3DQ23|Q5SXB8	Nonsense_Mutation	SNP	ENST00000371933.3	37	c.964A>T	CCDS30706.1	.	.	.	.	.	.	.	.	.	.	T	46	12.140364	0.99639	.	.	ENSG00000159658	ENST00000371933	.	.	.	5.3	3.15	0.36227	.	0.403646	0.29328	N	0.012480	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9439	6.5617	0.22489	0.1241:0.0:0.2273:0.6485	.	.	.	.	X	322	.	ENSP00000361001:K322X	K	-	1	0	KIAA0494	46926635	0.683000	0.27633	0.889000	0.34880	0.996000	0.88848	1.409000	0.34680	0.600000	0.29862	0.459000	0.35465	AAA		PASS	0.418	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021931.1	NM_014774		27	107	27	107	---	---	---	---
PCSK9	255738	broad.mit.edu	37	1	55509579	55509579	+	Missense_Mutation	SNP	T	T	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:55509579T>A	ENST00000302118.5	+	2	561	c.271T>A	c.(271-273)Tca>Aca	p.S91T	PCSK9_ENST00000452118.2_Missense_Mutation_p.S91T|PCSK9_ENST00000543384.1_Intron	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	91					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.S91T(2)|p.S91>?(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CCTCTCGCAGTCAGAGCGCAC	0.627																																					Pancreas(137;1454 1827 5886 22361 42375)	uc001cyf.1																			3	Substitution - Missense(2)|Complex(1)		kidney(2)|lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(271-273)TCA>ACA		proprotein convertase subtilisin/kexin type 9							57.0	49.0	52.0					1																	55509579		2203	4300	6503	SO:0001583	missense	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55509579T>A	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.271T>A	1.37:g.55509579T>A	ENSP00000303208:p.Ser91Thr					PCSK9_uc010ool.1_RNA|PCSK9_uc010oom.1_Intron	p.S91T	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN			2	562	+			91					A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	37	c.271T>A	CCDS603.1	.	.	.	.	.	.	.	.	.	.	T	4.407	0.075164	0.08485	.	.	ENSG00000169174	ENST00000302118;ENST00000452118	T;T	0.71579	-0.58;-0.58	4.42	-4.02	0.04034	Proteinase inhibitor, propeptide (1);Proteinase inhibitor I9, subtilisin propeptide (1);	1.138610	0.06854	N	0.797785	T	0.27765	0.0683	N	0.00538	-1.39	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32295	-0.9912	10	0.10902	T	0.67	-1.2621	1.6176	0.02707	0.4003:0.2669:0.2213:0.1115	.	91	Q8NBP7	PCSK9_HUMAN	T	91	ENSP00000303208:S91T;ENSP00000401598:S91T	ENSP00000303208:S91T	S	+	1	0	PCSK9	55282167	0.265000	0.24102	0.003000	0.11579	0.422000	0.31414	0.233000	0.17911	-1.071000	0.03145	-0.337000	0.08149	TCA		PASS	0.627	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		9	66	9	66	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70144063	70144063	+	Splice_Site	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:70144063G>T	ENST00000310961.5	+	2	244		c.e2-1		LRRC7_ENST00000370958.1_Splice_Site			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7							cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.?(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTCTCTTATAGGATGGAGAAC	0.398																																						uc001deo.1																			1	Unknown(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.e2-1		SubName: Full=Leucine rich repeat containing 7; SubName: Full=cDNA FLJ54846, highly similar to Leucine-rich repeat-containing protein 7;							16.0	15.0	16.0					1																	70144063		876	1990	2866	SO:0001630	splice_region_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70144063G>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000310961.5:c.-174-1G>T	1.37:g.70144063G>T							p.M1_splice			Q96NW7	LRRC7_HUMAN			2	1458	+								Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Splice_Site	SNP	ENST00000310961.5	37	c.3_splice		.	.	.	.	.	.	.	.	.	.	G	18.91	3.723993	0.68959	.	.	ENSG00000033122	ENST00000370958	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3795	0.83443	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRC7	69916651	1.000000	0.71417	0.998000	0.56505	0.812000	0.45895	4.489000	0.60309	2.941000	0.99782	0.655000	0.94253	.		PASS	0.398	LRRC7-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000131262.2	NM_020794	Intron	3	17	3	17	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75086533	75086533	+	Silent	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:75086533C>A	ENST00000326665.5	-	8	1103	c.885G>T	c.(883-885)ggG>ggT	p.G295G	C1orf173_ENST00000420661.2_Silent_p.G98G|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		295								p.G295G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCACATTTTTCCCCAAATAGA	0.363																																						uc001dgg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(883-885)GGG>GGT		hypothetical protein LOC127254							116.0	111.0	112.0					1																	75086533		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75086533C>A																												ENST00000326665.5:c.885G>T	1.37:g.75086533C>A						uc001dgh.2_Intron|C1orf173_uc001dgi.3_Silent_p.G89G	p.G295G	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			8	1104	-			295					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.885G>T	CCDS30755.1																																																																																				PASS	0.363	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			21	64	21	64	---	---	---	---
ELTD1	64123	broad.mit.edu	37	1	79386071	79386071	+	Splice_Site	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:79386071C>T	ENST00000370742.3	-	10	1321	c.1258G>A	c.(1258-1260)Ggt>Agt	p.G420S		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	420					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.G420S(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TCTTTAATACCCTAAGGGAAA	0.289																																						uc001diq.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1258-1260)GGT>AGT		EGF, latrophilin and seven transmembrane domain							36.0	35.0	35.0					1																	79386071		1786	4052	5838	SO:0001630	splice_region_variant	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79386071C>T	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1258-1G>A	1.37:g.79386071C>T							p.G420S	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	10	1414	-			420			Extracellular (Potential).		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.1258G>A	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.946136	0.34377	.	.	ENSG00000162618	ENST00000370742	T	0.35973	1.28	5.41	5.41	0.78517	.	0.244808	0.42821	D	0.000641	T	0.10252	0.0251	N	0.17082	0.46	0.43936	D	0.996598	B	0.14805	0.011	B	0.19946	0.027	T	0.13442	-1.0509	9	.	.	.	.	9.5251	0.39160	0.0:0.7811:0.1438:0.0751	.	420	Q9HBW9	ELTD1_HUMAN	S	420	ENSP00000359778:G420S	.	G	-	1	0	ELTD1	79158659	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	2.684000	0.46951	2.699000	0.92147	0.650000	0.86243	GGT		PASS	0.289	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159	Missense_Mutation	5	49	5	49	---	---	---	---
GTF2B	2959	broad.mit.edu	37	1	89322940	89322940	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:89322940C>A	ENST00000370500.5	-	6	884	c.766G>T	c.(766-768)Gca>Tca	p.A256S	GTF2B_ENST00000494819.1_5'Flank	NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	256					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|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)|viral process (GO:0016032)	nucleoplasm (GO:0005654)	core promoter binding (GO:0001047)|thyroid hormone receptor binding (GO:0046966)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A256S(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		TAAATAGCTGCCGCTGCCACA	0.493																																						uc001dmo.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(766-768)GCA>TCA		general transcription factor IIB							81.0	80.0	80.0					1																	89322940		2203	4300	6503	SO:0001583	missense	2959				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding	g.chr1:89322940C>A	M76766	CCDS715.1	1p22-p21	2010-03-23			ENSG00000137947	ENSG00000137947		"""General transcription factors"""	4648	protein-coding gene	gene with protein product		189963				1876184, 8162052	Standard	NM_001514		Approved	TFIIB	uc001dmo.4	Q00403	OTTHUMG00000010611	ENST00000370500.5:c.766G>T	1.37:g.89322940C>A	ENSP00000359531:p.Ala256Ser						p.A256S	NM_001514	NP_001505	Q00403	TF2B_HUMAN		all cancers(265;0.0131)|Epithelial(280;0.0255)	6	885	-		Lung NSC(277;0.123)	256			2.		A8K1A7|Q5JS30	Missense_Mutation	SNP	ENST00000370500.5	37	c.766G>T	CCDS715.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099137	0.94197	.	.	ENSG00000137947	ENST00000370500	T	0.72615	-0.67	5.11	5.11	0.69529	Transcription factor TFIIB, conserved site (1);Transcription factor TFIIB, cyclin-related (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	D	0.84061	0.5389	M	0.84773	2.715	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.85164	0.0994	10	0.52906	T	0.07	-34.7843	18.9056	0.92460	0.0:1.0:0.0:0.0	.	256	Q00403	TF2B_HUMAN	S	256	ENSP00000359531:A256S	ENSP00000359531:A256S	A	-	1	0	GTF2B	89095528	1.000000	0.71417	0.937000	0.37676	0.950000	0.60333	7.361000	0.79497	2.537000	0.85549	0.561000	0.74099	GCA		PASS	0.493	GTF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029279.1	NM_001514		18	103	18	103	---	---	---	---
RBMXL1	494115	broad.mit.edu	37	1	89448597	89448597	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:89448597C>A	ENST00000321792.5	-	2	1340	c.913G>T	c.(913-915)Ggt>Tgt	p.G305C	CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.G305C	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	305	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.G305C(2)									CTGCTTCCACCATAAGATGGC	0.473																																						uc009wcx.2																			2	Substitution - Missense(2)		lung(2)		0						c.(913-915)GGT>TGT		RNA binding motif protein, X-linked-like 1							175.0	176.0	176.0					1																	89448597		2203	4300	6503	SO:0001583	missense	494115						nucleotide binding|RNA binding	g.chr1:89448597C>A	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.913G>T	1.37:g.89448597C>A	ENSP00000318415:p.Gly305Cys					CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Missense_Mutation_p.G305C	p.G305C	NM_001162536	NP_001156008	Q96E39	RBMXL_HUMAN			3	1629	-			305			Ser-rich.			Missense_Mutation	SNP	ENST00000321792.5	37	c.913G>T	CCDS716.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934550	0.52866	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	D;D	0.94046	-3.34;-3.34	1.65	1.65	0.23941	.	0.058395	0.64402	D	0.000001	D	0.93756	0.8004	M	0.69823	2.125	0.32268	N	0.569284	D	0.89917	1.0	D	0.97110	1.0	D	0.90850	0.4730	10	0.87932	D	0	-9.6459	8.8848	0.35396	0.0:1.0:0.0:0.0	.	305	Q96E39	RBMXL_HUMAN	C	305	ENSP00000318415:G305C;ENSP00000446099:G305C	ENSP00000318415:G305C	G	-	1	0	RBMXL1	89221185	1.000000	0.71417	0.971000	0.41717	0.966000	0.64601	3.214000	0.51161	0.916000	0.36871	0.306000	0.20318	GGT		PASS	0.473	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		58	205	58	205	---	---	---	---
GBP2	2634	broad.mit.edu	37	1	89583373	89583373	+	Missense_Mutation	SNP	C	C	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:89583373C>G	ENST00000370466.3	-	5	780	c.512G>C	c.(511-513)aGc>aCc	p.S171T	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	171	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S171T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TGGAAAAAAGCTCACAAAGTC	0.448																																						uc001dmz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(511-513)AGC>ACC		guanylate binding protein 2,							86.0	79.0	81.0					1																	89583373		2203	4300	6503	SO:0001583	missense	2634				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89583373C>G	BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.512G>C	1.37:g.89583373C>G	ENSP00000359497:p.Ser171Thr					GBP2_uc001dmy.1_RNA	p.S171T	NM_004120	NP_004111	P32456	GBP2_HUMAN		all cancers(265;0.0151)|Epithelial(280;0.0284)	5	783	-		Lung NSC(277;0.0908)	171					Q6GPH0|Q6IAU2|Q86TB0	Missense_Mutation	SNP	ENST00000370466.3	37	c.512G>C	CCDS719.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771245	0.69992	.	.	ENSG00000162645	ENST00000370466	T	0.75938	-0.98	3.81	3.81	0.43845	Guanylate-binding protein, N-terminal (1);	0.428344	0.21719	U	0.070156	T	0.80628	0.4659	M	0.87827	2.91	0.23198	N	0.998135	D	0.57571	0.98	P	0.58454	0.839	T	0.73398	-0.3995	10	0.72032	D	0.01	-11.2532	13.5697	0.61838	0.0:1.0:0.0:0.0	.	171	P32456	GBP2_HUMAN	T	171	ENSP00000359497:S171T	ENSP00000359497:S171T	S	-	2	0	GBP2	89355961	1.000000	0.71417	0.928000	0.36995	0.004000	0.04260	3.244000	0.51399	2.091000	0.63221	0.655000	0.94253	AGC		PASS	0.448	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		26	72	26	72	---	---	---	---
ALX3	257	broad.mit.edu	37	1	110604103	110604103	+	Missense_Mutation	SNP	G	G	T	rs140822231		TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:110604103G>T	ENST00000369792.4	-	3	764	c.677C>A	c.(676-678)gCt>gAt	p.A226D	RP4-773N10.4_ENST00000596959.1_RNA|RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	226					embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|pattern specification process (GO:0007389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A226D(1)		large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTCATAGGCAGCCGTGAAGGG	0.607																																						uc001dzb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(676-678)GCT>GAT		aristaless-like homeobox 3							78.0	78.0	78.0					1																	110604103		2203	4300	6503	SO:0001583	missense	257					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:110604103G>T	AF008203	CCDS819.1	1p13.3	2014-02-04	2008-11-04		ENSG00000156150	ENSG00000156150		"""Homeoboxes / PRD class"""	449	protein-coding gene	gene with protein product		606014	"""aristaless-like homeobox 3"", ""frontonasal dysplasia"""	FND		15226305, 11807986, 19409524	Standard	NM_006492		Approved		uc001dzb.3	O95076	OTTHUMG00000011650	ENST00000369792.4:c.677C>A	1.37:g.110604103G>T	ENSP00000358807:p.Ala226Asp						p.A226D	NM_006492	NP_006483	O95076	ALX3_HUMAN		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)	3	765	-		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	226					O95075|Q5T8M4	Missense_Mutation	SNP	ENST00000369792.4	37	c.677C>A	CCDS819.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.858976	0.71834	.	.	ENSG00000156150	ENST00000369792	D	0.92397	-3.03	4.98	4.98	0.66077	.	0.229124	0.35320	N	0.003290	D	0.83198	0.5202	L	0.29908	0.895	0.47778	D	0.999511	B	0.23058	0.079	B	0.18871	0.023	T	0.82303	-0.0524	10	0.62326	D	0.03	.	16.8274	0.85935	0.0:0.0:1.0:0.0	.	226	O95076	ALX3_HUMAN	D	226	ENSP00000358807:A226D	ENSP00000358807:A226D	A	-	2	0	ALX3	110405626	1.000000	0.71417	0.482000	0.27366	0.995000	0.86356	9.043000	0.93799	2.333000	0.79357	0.655000	0.94253	GCT		PASS	0.607	ALX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032232.2	NM_006492		21	64	21	64	---	---	---	---
OLFML3	56944	broad.mit.edu	37	1	114524239	114524239	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:114524239C>T	ENST00000320334.4	+	3	1143	c.1069C>T	c.(1069-1071)Cct>Tct	p.P357S	OLFML3_ENST00000369551.1_Missense_Mutation_p.P337S|OLFML3_ENST00000393300.2_Missense_Mutation_p.P337S|OLFML3_ENST00000491700.1_3'UTR	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	357	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)		p.P357S(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACCCTGACCCCTGAACGGGC	0.597																																						uc001eer.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1069-1071)CCT>TCT		olfactomedin-like 3 precursor							61.0	61.0	61.0					1																	114524239		2203	4300	6503	SO:0001583	missense	56944				multicellular organismal development	extracellular region		g.chr1:114524239C>T	AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.1069C>T	1.37:g.114524239C>T	ENSP00000322273:p.Pro357Ser					OLFML3_uc001ees.1_Missense_Mutation_p.P337S|OLFML3_uc001eet.1_Missense_Mutation_p.P213S	p.P357S	NM_020190	NP_064575	Q9NRN5	OLFL3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	1178	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	357			Olfactomedin-like.		Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Missense_Mutation	SNP	ENST00000320334.4	37	c.1069C>T	CCDS870.1	.	.	.	.	.	.	.	.	.	.	C	1.446	-0.566205	0.03910	.	.	ENSG00000116774	ENST00000369551;ENST00000320334;ENST00000393300	D;D;D	0.88124	-2.34;-2.34;-2.34	5.96	5.04	0.67666	Olfactomedin-like (3);	0.329627	0.36200	N	0.002729	T	0.48447	0.1500	N	0.04063	-0.285	0.09310	N	1	B;B	0.17465	0.022;0.0	B;B	0.14023	0.01;0.004	T	0.36089	-0.9762	10	0.09084	T	0.74	.	6.6371	0.22889	0.1548:0.7082:0.0:0.137	.	337;357	Q9NRN5-2;Q9NRN5	.;OLFL3_HUMAN	S	337;357;337	ENSP00000358564:P337S;ENSP00000322273:P357S;ENSP00000376977:P337S	ENSP00000322273:P357S	P	+	1	0	OLFML3	114325762	0.002000	0.14202	0.953000	0.39169	0.487000	0.33371	1.571000	0.36450	2.813000	0.96785	0.655000	0.94253	CCT		PASS	0.597	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033119.1	NM_020190		17	47	17	47	---	---	---	---
FCRL2	79368	broad.mit.edu	37	1	157745576	157745576	+	Missense_Mutation	SNP	G	G	C			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:157745576G>C	ENST00000361516.3	-	2	89	c.41C>G	c.(40-42)aCt>aGt	p.T14S	FCRL2_ENST00000368181.4_Missense_Mutation_p.T14S|FCRL2_ENST00000392274.3_Missense_Mutation_p.T14S	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	14					cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.T14S(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGCCTGTTCAGTGACTGCATC	0.433																																						uc001fre.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(40-42)ACT>AGT		Fc receptor-like 2 precursor							113.0	94.0	100.0					1																	157745576		2203	4300	6503	SO:0001583	missense	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157745576G>C	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.41C>G	1.37:g.157745576G>C	ENSP00000355157:p.Thr14Ser					FCRL2_uc010phz.1_Missense_Mutation_p.T14S|FCRL2_uc009wsp.2_Missense_Mutation_p.T14S|FCRL2_uc010pia.1_Missense_Mutation_p.T14S	p.T14S	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		2	100	-	all_hematologic(112;0.0378)		14					A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	c.41C>G	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.501739	0.01001	.	.	ENSG00000132704	ENST00000361516;ENST00000368181;ENST00000392274	T;T;T	0.20881	2.13;3.65;2.04	4.51	0.534	0.17127	.	1.477700	0.04853	N	0.442581	T	0.01523	0.0049	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.11235	0.001;0.001;0.001;0.004	B;B;B;B	0.14578	0.001;0.001;0.0;0.011	T	0.36383	-0.9750	10	0.06891	T	0.86	.	3.9812	0.09495	0.0:0.5111:0.1829:0.306	.	14;14;14;14	B4E0W2;B4DVJ9;Q96LA5-5;Q96LA5	.;.;.;FCRL2_HUMAN	S	14	ENSP00000355157:T14S;ENSP00000357163:T14S;ENSP00000376100:T14S	ENSP00000355157:T14S	T	-	2	0	FCRL2	156012200	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.064000	0.14437	-0.068000	0.12953	-0.825000	0.03093	ACT		PASS	0.433	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		4	33	4	33	---	---	---	---
FCRLA	84824	broad.mit.edu	37	1	161681143	161681143	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:161681143G>T	ENST00000236938.6	+	3	671	c.429G>T	c.(427-429)agG>agT	p.R143S	FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000367953.3_Missense_Mutation_p.R132S|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000367959.2_Missense_Mutation_p.R149S|FCRLA_ENST00000540926.1_Missense_Mutation_p.R132S|FCRLA_ENST00000349527.4_Missense_Mutation_p.R126S|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000309691.6_Intron	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	126	Ig-like C2-type 1.				cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.R149S(1)|p.R126S(1)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GGCCTAACAGGGAATTCTCCA	0.602																																						uc001gbe.2																			2	Substitution - Missense(2)		lung(2)		0						c.(445-447)AGG>AGT		Fc receptor-like and mucin-like 1							55.0	56.0	56.0					1																	161681143		2203	4300	6503	SO:0001583	missense	84824				cell differentiation	cytoplasm|extracellular region		g.chr1:161681143G>T	AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.429G>T	1.37:g.161681143G>T	ENSP00000236938:p.Arg143Ser					FCRLA_uc001gbd.2_Missense_Mutation_p.R143S|FCRLA_uc001gbf.2_Intron|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron	p.R149S	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00301)		4	689	+	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		126			Ig-like C2-type 1.		A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Missense_Mutation	SNP	ENST00000236938.6	37	c.447G>T	CCDS30926.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.160916	0.00321	.	.	ENSG00000132185	ENST00000236938;ENST00000367959;ENST00000540926;ENST00000349527;ENST00000367953	T;T;T;T;T	0.00686	5.85;5.85;5.85;5.85;5.85	4.99	-2.67	0.06059	.	0.782654	0.11253	N	0.583399	T	0.00073	0.0002	N	0.00652	-1.29	0.09310	N	1	B;B	0.24426	0.103;0.001	B;B	0.29862	0.108;0.01	T	0.24476	-1.0159	10	0.02654	T	1	.	5.1757	0.15133	0.5009:0.0:0.3545:0.1445	.	149;143	A6NC03;Q7L513-9	.;.	S	143;149;132;126;132	ENSP00000236938:R143S;ENSP00000356936:R149S;ENSP00000446380:R132S;ENSP00000294798:R126S;ENSP00000356930:R132S	ENSP00000236938:R143S	R	+	3	2	FCRLA	159947767	0.001000	0.12720	0.003000	0.11579	0.006000	0.05464	-0.566000	0.05922	-0.375000	0.07955	-0.345000	0.07892	AGG		PASS	0.602	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738		8	55	8	55	---	---	---	---
LRRC52	440699	broad.mit.edu	37	1	165514029	165514029	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:165514029G>T	ENST00000294818.1	+	1	786	c.496G>T	c.(496-498)Gac>Tac	p.D166Y	RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	166					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D166Y(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GCAGACCCTGGACAGTGCTGC	0.517																																						uc001gde.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(496-498)GAC>TAC		leucine rich repeat containing 52 precursor							154.0	154.0	154.0					1																	165514029		2203	4300	6503	SO:0001583	missense	440699					integral to membrane		g.chr1:165514029G>T	AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.496G>T	1.37:g.165514029G>T	ENSP00000294818:p.Asp166Tyr					LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	p.D166Y	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN			1	552	+	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		166			Extracellular (Potential).|LRR 5.		A2RUN7|Q5T9K5	Missense_Mutation	SNP	ENST00000294818.1	37	c.496G>T	CCDS30930.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168963	0.38315	.	.	ENSG00000162763	ENST00000294818	T	0.02421	4.3	5.39	4.44	0.53790	.	0.138558	0.64402	D	0.000005	T	0.05960	0.0155	L	0.52266	1.64	0.37139	D	0.901600	D	0.64830	0.994	D	0.67231	0.95	T	0.07927	-1.0747	9	0.72032	D	0.01	.	13.9485	0.64101	0.0:0.1523:0.8477:0.0	.	166	Q8N7C0	LRC52_HUMAN	Y	166	ENSP00000294818:D166Y	ENSP00000294818:D166Y	D	+	1	0	LRRC52	163780653	1.000000	0.71417	0.989000	0.46669	0.281000	0.26958	4.041000	0.57339	2.517000	0.84864	0.563000	0.77884	GAC		PASS	0.517	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1	NM_001005214		41	166	41	166	---	---	---	---
DUSP27	92235	broad.mit.edu	37	1	167096615	167096615	+	Silent	SNP	G	G	C	rs140729613	byFrequency	TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:167096615G>C	ENST00000361200.2	+	6	2413	c.2247G>C	c.(2245-2247)ccG>ccC	p.P749P	DUSP27_ENST00000271385.5_Silent_p.P749P|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.P749P			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	749					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.P749P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCCGCTCACCGTCTGTTGCAA	0.537																																						uc001geb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(2245-2247)CCG>CCC		dual specificity phosphatase 27							93.0	77.0	82.0					1																	167096615		2203	4300	6503	SO:0001819	synonymous_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167096615G>C	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2247G>C	1.37:g.167096615G>C							p.P749P	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	2247	+			749					A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	c.2247G>C	CCDS30932.1																																																																																				PASS	0.537	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		14	59	14	59	---	---	---	---
SELP	6403	broad.mit.edu	37	1	169578860	169578860	+	Silent	SNP	C	C	A	rs138017338	byFrequency	TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:169578860C>A	ENST00000263686.6	-	8	1252	c.1215G>T	c.(1213-1215)gcG>gcT	p.A405A	SELP_ENST00000367793.2_Silent_p.A343A|SELP_ENST00000367794.2_Silent_p.A343A|SELP_ENST00000458599.2_Silent_p.A343A|SELP_ENST00000367786.2_Silent_p.A343A|SELP_ENST00000367792.2_Silent_p.A343A|SELP_ENST00000367788.2_Silent_p.A343A|SELP_ENST00000367791.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	405	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.A405A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	CATACTGAAACGCTCTCAAGG	0.498																																						uc001ggi.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(1213-1215)GCG>GCT		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						121.0	101.0	108.0					1																	169578860		2203	4300	6503	SO:0001819	synonymous_variant	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169578860C>A	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1215G>T	1.37:g.169578860C>A						SELP_uc001ggh.2_Silent_p.A240A|SELP_uc009wvr.2_Silent_p.A405A	p.A405A	NM_003005	NP_002996	P16109	LYAM3_HUMAN			8	1280	-	all_hematologic(923;0.208)		405			Sushi 4.|Extracellular (Potential).		Q5R344|Q8IVD1	Silent	SNP	ENST00000263686.6	37	c.1215G>T	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	C	5.616	0.298419	0.10622	.	.	ENSG00000174175	ENST00000446728	.	.	.	5.6	-9.39	0.00619	.	.	.	.	.	T	0.09379	0.0231	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.15607	-1.0431	4	.	.	.	0.0023	8.5962	0.33716	0.0:0.3874:0.1615:0.4511	.	.	.	.	F	343	.	.	V	-	1	0	SELP	167845484	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.330000	0.07925	-2.333000	0.00631	-1.128000	0.01989	GTT		PASS	0.498	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		15	65	15	65	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175046707	175046707	+	Silent	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:175046707C>A	ENST00000239462.4	+	2	266	c.153C>A	c.(151-153)ccC>ccA	p.P51P		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	51					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.P51P(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TCGATGTGCCCAAGTCTGCCT	0.617																																						uc001gkl.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(151-153)CCC>CCA		tenascin N precursor							90.0	62.0	72.0					1																	175046707		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175046707C>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.153C>A	1.37:g.175046707C>A						TNN_uc010pmx.1_Silent_p.P51P	p.P51P	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	2	266	+		Breast(1374;0.000962)	51					B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.153C>A	CCDS30943.1																																																																																				PASS	0.617	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		15	39	15	39	---	---	---	---
RGL1	23179	broad.mit.edu	37	1	183816796	183816796	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:183816796G>A	ENST00000360851.3	+	3	413	c.235G>A	c.(235-237)Gag>Aag	p.E79K	RGL1_ENST00000536277.1_Missense_Mutation_p.E77K|RGL1_ENST00000539189.1_Missense_Mutation_p.E79K|RGL1_ENST00000304685.4_Missense_Mutation_p.E114K			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	79	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.E114K(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GAAGCTTGTGGAGAACCTGCT	0.473																																						uc001gqo.2																			1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(4)|lung(2)	11						c.(235-237)GAG>AAG		ral guanine nucleotide dissociation							171.0	171.0	171.0					1																	183816796		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183816796G>A	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.235G>A	1.37:g.183816796G>A	ENSP00000354097:p.Glu79Lys					RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Missense_Mutation_p.E114K|RGL1_uc010pog.1_Missense_Mutation_p.E77K|RGL1_uc010poh.1_Missense_Mutation_p.E77K|RGL1_uc010poi.1_Missense_Mutation_p.E79K	p.E79K	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN			3	392	+			79			N-terminal Ras-GEF.		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.235G>A		.	.	.	.	.	.	.	.	.	.	G	29.4	5.005800	0.93287	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4	5.61	5.61	0.85477	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.78013	0.4217	M	0.87758	2.905	0.80722	D	1	D;D;D;D	0.76494	0.996;0.999;0.997;0.999	D;D;D;D	0.83275	0.99;0.996;0.994;0.996	T	0.80030	-0.1553	10	0.59425	D	0.04	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	79;77;79;114	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	K	114;114;77;79;79	ENSP00000303192:E114K;ENSP00000356501:E114K;ENSP00000438662:E77K;ENSP00000354097:E79K;ENSP00000437355:E79K	ENSP00000303192:E114K	E	+	1	0	RGL1	182083419	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.184000	0.94893	2.793000	0.96121	0.655000	0.94253	GAG		PASS	0.473	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		23	138	23	138	---	---	---	---
TRMT1L	81627	broad.mit.edu	37	1	185109335	185109335	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:185109335C>A	ENST00000367506.5	-	8	1147	c.879G>T	c.(877-879)tgG>tgT	p.W293C	TRMT1L_ENST00000367504.3_Missense_Mutation_p.W137C	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	293	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)	p.W293C(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						GATGTTTTGCCCACTGTAATC	0.294																																						uc001grf.3																			1	Substitution - Missense(1)		lung(1)		0						c.(877-879)TGG>TGT		N2,N2-dimethylguanosine tRNA							46.0	44.0	45.0					1																	185109335		2202	4298	6500	SO:0001583	missense	81627					intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr1:185109335C>A	AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"""TRM1-like"""	611673	"""chromosome 1 open reading frame 25"", ""TRM1 tRNA methyltransferase 1-like"""	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.879G>T	1.37:g.185109335C>A	ENSP00000356476:p.Trp293Cys					C1orf25_uc010pon.1_Missense_Mutation_p.W137C	p.W293C	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN			8	1151	-			293					Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP	ENST00000367506.5	37	c.879G>T	CCDS1366.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221969	0.79464	.	.	ENSG00000121486	ENST00000367504;ENST00000367506	.	.	.	6.17	6.17	0.99709	.	0.098767	0.85682	D	0.000000	T	0.79969	0.4538	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79313	-0.1855	9	0.87932	D	0	-3.4428	20.8794	0.99867	0.0:1.0:0.0:0.0	.	293	Q7Z2T5	TRM1L_HUMAN	C	137;293	.	ENSP00000356474:W137C	W	-	3	0	TRMT1L	183375958	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.559000	0.82265	2.941000	0.99782	0.655000	0.94253	TGG		PASS	0.294	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934		4	53	4	53	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190234052	190234052	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:190234052G>T	ENST00000367462.3	-	4	792	c.561C>A	c.(559-561)gaC>gaA	p.D187E	BRINP3_ENST00000534846.1_Missense_Mutation_p.D85E|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	187	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.D187E(1)									TGCTGTCCCTGTCAATGAAAT	0.453																																						uc001gse.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(559-561)GAC>GAA		family with sequence similarity 5, member C							137.0	127.0	131.0					1																	190234052		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190234052G>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.561C>A	1.37:g.190234052G>T	ENSP00000356432:p.Asp187Glu					FAM5C_uc010pot.1_Missense_Mutation_p.D85E	p.D187E	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			4	793	-	Prostate(682;0.198)		187					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.561C>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.695542	0.88830	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.33654	1.66;1.4	5.75	4.83	0.62350	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.58736	0.2143	M	0.76328	2.33	0.49130	D	0.999754	D;D	0.63046	0.99;0.992	D;D	0.76071	0.978;0.987	T	0.61657	-0.7018	10	0.87932	D	0	.	12.923	0.58243	0.0803:0.0:0.9197:0.0	.	85;187	B7Z260;Q76B58	.;FAM5C_HUMAN	E	187;85	ENSP00000356432:D187E;ENSP00000438022:D85E	ENSP00000356432:D187E	D	-	3	2	FAM5C	188500675	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.703000	0.54808	2.721000	0.93114	0.585000	0.79938	GAC		PASS	0.453	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		12	85	12	85	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228444413	228444413	+	Silent	SNP	G	G	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:228444413G>A	ENST00000422127.1	+	15	4415	c.4371G>A	c.(4369-4371)ggG>ggA	p.G1457G	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Silent_p.G1549G|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.G1457G|OBSCN_ENST00000359599.6_Silent_p.G21G	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1457	Ig-like 15.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.G1457G(4)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCAGGCGGGGGCCAGCACCA	0.622																																						uc009xez.1																			4	Substitution - coding silent(4)		lung(4)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(4369-4371)GGG>GGA		obscurin, cytoskeletal calmodulin and							40.0	42.0	41.0					1																	228444413		2028	4161	6189	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228444413G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4371G>A	1.37:g.228444413G>A						OBSCN_uc001hsn.2_Silent_p.G1457G	p.G1457G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			15	4415	+		Prostate(94;0.0405)	1457			Ig-like 15.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.4371G>A	CCDS58065.1																																																																																				PASS	0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		5	50	5	50	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237754118	237754118	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:237754118G>T	ENST00000366574.2	+	31	4303	c.3986G>T	c.(3985-3987)gGg>gTg	p.G1329V	RYR2_ENST00000542537.1_Missense_Mutation_p.G1313V|RYR2_ENST00000360064.6_Missense_Mutation_p.G1327V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1329	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G1327V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCCTTTTTGGGCCCAAGAAT	0.517																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(3985-3987)GGG>GTG		cardiac muscle ryanodine receptor							92.0	90.0	91.0					1																	237754118		1920	4135	6055	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237754118G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3986G>T	1.37:g.237754118G>T	ENSP00000355533:p.Gly1329Val						p.G1329V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		31	4106	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1329			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3986G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	g	11.56	1.674684	0.29693	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96334	-3.98;-3.95;-3.97	5.23	4.3	0.51218	.	0.200066	0.34555	N	0.003878	D	0.89938	0.6860	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	D	0.85754	0.1345	10	0.31617	T	0.26	.	13.2339	0.59958	0.0:0.0:0.711:0.289	.	1329	Q92736	RYR2_HUMAN	V	1329;1327;1313	ENSP00000355533:G1329V;ENSP00000353174:G1327V;ENSP00000443798:G1313V	ENSP00000353174:G1327V	G	+	2	0	RYR2	235820741	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.259000	0.58828	1.533000	0.49186	0.655000	0.94253	GGG		PASS	0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		25	89	25	89	---	---	---	---
TFB2M	64216	broad.mit.edu	37	1	246719931	246719931	+	Missense_Mutation	SNP	T	T	C			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:246719931T>C	ENST00000366514.4	-	4	834	c.649A>G	c.(649-651)Ata>Gta	p.I217V	TFB2M_ENST00000544618.1_3'UTR	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	217					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)	p.I217V(1)		breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			AATTTATATATAGAAGTACAG	0.328																																						uc001ibn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(649-651)ATA>GTA		transcription factor B2, mitochondrial							50.0	55.0	53.0					1																	246719931		2202	4300	6502	SO:0001583	missense	64216				positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity	g.chr1:246719931T>C	AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.649A>G	1.37:g.246719931T>C	ENSP00000355471:p.Ile217Val					TFB2M_uc010pys.1_RNA	p.I217V	NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00358)		4	774	-	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		217					Q9H626	Missense_Mutation	SNP	ENST00000366514.4	37	c.649A>G	CCDS1627.1	.	.	.	.	.	.	.	.	.	.	T	6.672	0.492522	0.12702	.	.	ENSG00000162851	ENST00000366514	T	0.30714	1.52	5.19	-2.69	0.06022	.	0.420573	0.27096	N	0.020958	T	0.15955	0.0384	N	0.20685	0.6	0.80722	D	1	P	0.38827	0.649	B	0.40659	0.336	T	0.15578	-1.0432	10	0.08179	T	0.78	-7.2789	11.1544	0.48478	0.0:0.4732:0.0:0.5268	.	217	Q9H5Q4	TFB2M_HUMAN	V	217	ENSP00000355471:I217V	ENSP00000355471:I217V	I	-	1	0	TFB2M	244786554	0.299000	0.24426	0.267000	0.24556	0.338000	0.28826	-0.420000	0.07062	-0.437000	0.07243	-0.417000	0.06048	ATA		PASS	0.328	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096673.1	NM_022366		10	68	10	68	---	---	---	---
OR2L8	391190	broad.mit.edu	37	1	248112719	248112719	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:248112719C>A	ENST00000357191.3	+	1	560	c.560C>A	c.(559-561)gCc>gAc	p.A187D	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A187D(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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;0.0152)			GTGACTCTGGCCTGCATGGAC	0.468																																						uc001idt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(559-561)GCC>GAC		olfactory receptor, family 2, subfamily L,							129.0	64.0	86.0					1																	248112719		2203	4297	6500	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112719C>A	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.560C>A	1.37:g.248112719C>A	ENSP00000349719:p.Ala187Asp					OR2L13_uc001ids.2_Intron	p.A187D	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	560	+	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)		187			Extracellular (Potential).		Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.560C>A	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	11.76	1.734629	0.30774	.	.	ENSG00000196936	ENST00000357191	T	0.00231	8.49	1.79	0.819	0.18785	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32918	U	0.005481	T	0.00695	0.0023	H	0.96111	3.77	0.30160	N	0.802288	D	0.67145	0.996	D	0.72625	0.978	T	0.08249	-1.0731	10	0.87932	D	0	.	8.3274	0.32165	0.0:0.8543:0.0:0.1457	.	187	Q8NGY9	OR2L8_HUMAN	D	187	ENSP00000349719:A187D	ENSP00000349719:A187D	A	+	2	0	OR2L8	246179342	0.000000	0.05858	0.747000	0.31113	0.192000	0.23643	0.115000	0.15540	1.005000	0.39183	0.479000	0.44913	GCC		PASS	0.468	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			5	67	5	67	---	---	---	---
OR2L3	391192	broad.mit.edu	37	1	248224543	248224543	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:248224543C>A	ENST00000359959.3	+	1	560	c.560C>A	c.(559-561)gCc>gAc	p.A187D	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A187D(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GTGACTCTGGCCTGCATGGAC	0.468																																						uc001idx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(559-561)GCC>GAC		olfactory receptor, family 2, subfamily L,							118.0	143.0	135.0					1																	248224543		2201	4298	6499	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224543C>A	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.560C>A	1.37:g.248224543C>A	ENSP00000353044:p.Ala187Asp					OR2L13_uc001ids.2_Intron	p.A187D	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	560	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		187			Extracellular (Potential).		B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.560C>A	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.649999	0.47362	.	.	ENSG00000198128	ENST00000359959	T	0.00231	8.49	2.05	1.09	0.20402	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32918	U	0.005481	T	0.00724	0.0024	H	0.96175	3.78	0.28297	N	0.923265	D	0.76494	0.999	D	0.77557	0.99	T	0.12167	-1.0558	10	0.87932	D	0	.	8.7058	0.34354	0.0:0.8622:0.0:0.1378	.	187	Q8NG85	OR2L3_HUMAN	D	187	ENSP00000353044:A187D	ENSP00000353044:A187D	A	+	2	0	OR2L3	246291166	0.000000	0.05858	0.196000	0.23383	0.025000	0.11179	-0.230000	0.09083	1.124000	0.41980	0.462000	0.41574	GCC		PASS	0.468	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		4	97	4	97	---	---	---	---
OR2T1	26696	broad.mit.edu	37	1	248569946	248569946	+	Silent	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr1:248569946C>T	ENST00000366474.1	+	1	651	c.651C>T	c.(649-651)ccC>ccT	p.P217P		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P217P(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGAGCTTTCCCTTCTGCAATT	0.532																																						uc010pzm.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(649-651)CCC>CCT		olfactory receptor, family 2, subfamily T,							111.0	103.0	106.0					1																	248569946		2203	4300	6503	SO:0001819	synonymous_variant	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569946C>T	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.651C>T	1.37:g.248569946C>T							p.P217P	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	651	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		217			Extracellular (Potential).		Q6IEZ9	Silent	SNP	ENST00000366474.1	37	c.651C>T	CCDS31115.1																																																																																				PASS	0.532	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			6	70	6	70	---	---	---	---
XDH	7498	broad.mit.edu	37	2	31598392	31598392	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr2:31598392C>A	ENST00000379416.3	-	15	1504	c.1456G>T	c.(1456-1458)Gtg>Ttg	p.V486L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	486					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.V486M(1)|p.V486L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CCTGCACACACGTCCTGCAGC	0.637																																					Colon(66;682 1445 30109 40147)	uc002rnv.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(1456-1458)GTG>TTG		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						58.0	52.0	54.0					2																	31598392		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31598392C>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1456G>T	2.37:g.31598392C>A	ENSP00000368727:p.Val486Leu						p.V486L	NM_000379	NP_000370	P47989	XDH_HUMAN			15	1535	-	Acute lymphoblastic leukemia(172;0.155)		486					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.1456G>T	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726468	0.89298	.	.	ENSG00000158125	ENST00000379416	T	0.24350	1.86	5.32	5.32	0.75619	Xanthine dehydrogenase, small subunit (1);CO dehydrogenase flavoprotein, C-terminal (3);	0.050849	0.85682	D	0.000000	T	0.45716	0.1356	M	0.85373	2.75	0.54753	D	0.999984	B	0.32781	0.384	B	0.41571	0.36	T	0.51371	-0.8714	10	0.66056	D	0.02	.	18.6094	0.91279	0.0:1.0:0.0:0.0	.	486	P47989	XDH_HUMAN	L	486	ENSP00000368727:V486L	ENSP00000368727:V486L	V	-	1	0	XDH	31451896	1.000000	0.71417	0.952000	0.39060	0.922000	0.55478	6.031000	0.70911	2.492000	0.84095	0.655000	0.94253	GTG		PASS	0.637	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		14	42	14	42	---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33568004	33568004	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr2:33568004C>T	ENST00000404816.2	+	25	4183	c.3830C>T	c.(3829-3831)gCc>gTc	p.A1277V	LTBP1_ENST00000418533.2_Intron|LTBP1_ENST00000354476.3_Missense_Mutation_p.A1278V|LTBP1_ENST00000407925.1_Missense_Mutation_p.A951V|LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000404525.1_Missense_Mutation_p.A898V|LTBP1_ENST00000402934.1_Missense_Mutation_p.A898V|LTBP1_ENST00000390003.4_Missense_Mutation_p.A952V			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1277	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.A1278V(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGCTTTCAAGCCCCACAGGAT	0.463																																						uc002ros.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(3832-3834)GCC>GTC		latent transforming growth factor beta binding							90.0	77.0	81.0					2																	33568004		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33568004C>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3830C>T	2.37:g.33568004C>T	ENSP00000386043:p.Ala1277Val					LTBP1_uc002rot.2_Missense_Mutation_p.A952V|LTBP1_uc002rou.2_Missense_Mutation_p.A951V|LTBP1_uc002rov.2_Missense_Mutation_p.A898V|LTBP1_uc010ymz.1_Intron|LTBP1_uc010yna.1_Intron|LTBP1_uc010ynb.1_Intron	p.A1278V	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			25	3833	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1277			EGF-like 13; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.3833C>T	CCDS33177.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.943562|3.943562	0.73672|0.73672	.|.	.|.	ENSG00000049323|ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000402934;ENST00000404525;ENST00000407925|ENST00000415140	D;D;D;D;D;D|.	0.91996|.	-2.95;-2.95;-2.95;-2.95;-2.95;-2.95|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|.	.|.	.|.	.|.	T|T	0.57080|0.57080	0.2029|0.2029	L|L	0.37750|0.37750	1.13|1.13	0.80722|0.80722	D|D	1|1	B;P;P;P|.	0.52061|.	0.082;0.9;0.95;0.835|.	B;P;P;P|.	0.48334|.	0.022;0.493;0.574;0.571|.	T|T	0.51521|0.51521	-0.8695|-0.8695	9|5	0.15499|.	T|.	0.54|.	.|.	13.2261|13.2261	0.59914|0.59914	0.2616:0.7384:0.0:0.0|0.2616:0.7384:0.0:0.0	.|.	898;951;952;1278|.	Q14766-3;Q14766-2;Q14766-5;Q14766-4|.	.;.;.;.|.	V|S	1277;1278;952;898;898;951|239	ENSP00000386043:A1277V;ENSP00000346467:A1278V;ENSP00000374653:A952V;ENSP00000384373:A898V;ENSP00000385359:A898V;ENSP00000384091:A951V|.	ENSP00000346467:A1278V|.	A|P	+|+	2|1	0|0	LTBP1|LTBP1	33421508|33421508	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.373000|3.373000	0.52394|0.52394	2.807000|2.807000	0.96579|0.96579	0.557000|0.557000	0.71058|0.71058	GCC|CCC		PASS	0.463	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		7	66	7	66	---	---	---	---
ETAA1	54465	broad.mit.edu	37	2	67632417	67632417	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr2:67632417G>A	ENST00000272342.5	+	5	2733	c.2603G>A	c.(2602-2604)gGa>gAa	p.G868E	ETAA1_ENST00000462772.1_3'UTR	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	868						cytoplasm (GO:0005737)		p.G868E(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GAAGCTGTTGGACAGCAATCT	0.323																																						uc002sdz.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(2602-2604)GGA>GAA		ETAA16 protein							34.0	35.0	34.0					2																	67632417		2183	4254	6437	SO:0001583	missense	54465					cytoplasm|nucleus		g.chr2:67632417G>A	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.2603G>A	2.37:g.67632417G>A	ENSP00000272342:p.Gly868Glu						p.G868E	NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN			5	2742	+			868					Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	c.2603G>A	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	G	1.009	-0.688618	0.03328	.	.	ENSG00000143971	ENST00000272342	T	0.15834	2.39	5.28	-10.3	0.00346	.	0.687314	0.13921	N	0.353598	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	10	0.28530	T	0.3	25.7568	2.245	0.04029	0.2261:0.1635:0.4016:0.2089	.	868	Q9NY74	ETAA1_HUMAN	E	868	ENSP00000272342:G868E	ENSP00000272342:G868E	G	+	2	0	ETAA1	67485921	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.031000	0.12287	-0.956000	0.03631	-2.655000	0.00148	GGA		PASS	0.323	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		3	48	3	48	---	---	---	---
HTRA2	27429	broad.mit.edu	37	2	74757145	74757145	+	Silent	SNP	G	G	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr2:74757145G>A	ENST00000258080.3	+	1	642	c.12G>A	c.(10-12)ccG>ccA	p.P4P	HTRA2_ENST00000352222.3_Silent_p.P4P|HTRA2_ENST00000467961.1_Intron|AUP1_ENST00000377526.3_5'Flank	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	4					adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)	p.P4P(2)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TGGCTGCGCCGAGGGCGGGGC	0.741																																						uc002smi.1																			2	Substitution - coding silent(2)		urinary_tract(1)|lung(1)	ovary(1)	1						c.(10-12)CCG>CCA		HtrA serine peptidase 2 isoform 1 preproprotein							16.0	22.0	20.0					2																	74757145		1713	3678	5391	SO:0001819	synonymous_variant	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74757145G>A		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.12G>A	2.37:g.74757145G>A						AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Silent_p.P4P|HTRA2_uc002smk.1_Silent_p.P4P|HTRA2_uc002sml.1_Silent_p.P4P|HTRA2_uc002smm.1_Intron|HTRA2_uc002smn.1_Intron|HTRA2_uc010ffl.2_5'Flank	p.P4P	NM_013247	NP_037379	O43464	HTRA2_HUMAN			1	614	+			4					Q9HBZ4|Q9P0Y3|Q9P0Y4	Silent	SNP	ENST00000258080.3	37	c.12G>A	CCDS1951.1																																																																																				PASS	0.741	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		12	71	12	71	---	---	---	---
REG1A	5967	broad.mit.edu	37	2	79348720	79348720	+	Missense_Mutation	SNP	C	C	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr2:79348720C>G	ENST00000233735.1	+	3	200	c.97C>G	c.(97-99)Cgg>Ggg	p.R33G		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	33					positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.R33G(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						GCCCCAGGCCCGGATCAGCTG	0.522																																						uc002snz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(97-99)CGG>GGG		regenerating islet-derived 1 alpha precursor							171.0	180.0	177.0					2																	79348720		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79348720C>G		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.97C>G	2.37:g.79348720C>G	ENSP00000233735:p.Arg33Gly					REG1A_uc010ffx.1_Missense_Mutation_p.R33G|REG1A_uc010ysd.1_Missense_Mutation_p.R33G	p.R33G	NM_002909	NP_002900	P05451	REG1A_HUMAN			3	200	+			33					P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.97C>G	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	c	15.49	2.849026	0.51270	.	.	ENSG00000115386	ENST00000233735	T	0.64085	-0.08	2.85	-1.87	0.07737	C-type lectin-like (1);	0.981280	0.08253	N	0.974328	T	0.61924	0.2386	M	0.76328	2.33	0.09310	N	1	P;D	0.54397	0.93;0.966	B;P	0.47402	0.383;0.546	T	0.55211	-0.8176	10	0.59425	D	0.04	.	4.2524	0.10702	0.5953:0.2653:0.0:0.1394	.	33;33	A8K7G6;P05451	.;REG1A_HUMAN	G	33	ENSP00000233735:R33G	ENSP00000233735:R33G	R	+	1	2	REG1A	79202228	0.000000	0.05858	0.001000	0.08648	0.756000	0.42949	-1.306000	0.02735	-0.417000	0.07461	0.563000	0.77884	CGG		PASS	0.522	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		36	294	36	294	---	---	---	---
SMYD1	150572	broad.mit.edu	37	2	88367421	88367421	+	Missense_Mutation	SNP	C	C	A	rs545698552	byFrequency	TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr2:88367421C>A	ENST00000419482.2	+	1	123	c.38C>A	c.(37-39)aCc>aAc	p.T13N	SMYD1_ENST00000444564.2_Missense_Mutation_p.T13N|SMYD1_ENST00000438570.1_Missense_Mutation_p.T13N	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	13	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.T13N(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GAGGTCTTCACCGCTGAGGGC	0.522																																						uc002ssr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(37-39)ACC>AAC		SET and MYND domain containing 1							209.0	231.0	224.0					2																	88367421		2203	4300	6503	SO:0001583	missense	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88367421C>A	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.38C>A	2.37:g.88367421C>A	ENSP00000393453:p.Thr13Asn					SMYD1_uc002ssq.1_Missense_Mutation_p.T8N	p.T13N	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN			1	40	+			13					A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	c.38C>A	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	c	5.066	0.197814	0.09652	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000438570	T;T;T	0.13538	2.58;2.58;2.58	5.85	1.02	0.19986	SET domain (1);	0.298226	0.37219	N	0.002192	T	0.08088	0.0202	L	0.32530	0.975	0.18873	N	0.999986	B;B	0.18461	0.001;0.028	B;B	0.15484	0.002;0.013	T	0.34229	-0.9837	10	0.23302	T	0.38	-0.0035	4.7923	0.13254	0.3689:0.4343:0.0:0.1969	.	13;13	Q8NB12;C9JUP3	SMYD1_HUMAN;.	N	13	ENSP00000393453:T13N;ENSP00000407888:T13N;ENSP00000387482:T13N	ENSP00000393453:T13N	T	+	2	0	SMYD1	88148536	0.833000	0.29383	0.034000	0.17996	0.647000	0.38526	1.632000	0.37102	-0.090000	0.12462	-0.726000	0.03593	ACC		PASS	0.522	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		37	221	37	221	---	---	---	---
SMYD1	150572	broad.mit.edu	37	2	88396283	88396283	+	Missense_Mutation	SNP	G	G	C			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr2:88396283G>C	ENST00000419482.2	+	6	953	c.868G>C	c.(868-870)Ggg>Cgg	p.G290R	SMYD1_ENST00000444564.2_Missense_Mutation_p.G277R|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	290					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.G290R(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CCTCTTCCTGGGGGTGAAAGA	0.507																																						uc002ssr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(868-870)GGG>CGG		SET and MYND domain containing 1							77.0	74.0	75.0					2																	88396283		2203	4300	6503	SO:0001583	missense	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88396283G>C	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.868G>C	2.37:g.88396283G>C	ENSP00000393453:p.Gly290Arg					SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_5'UTR	p.G290R	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN			6	870	+			290					A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	c.868G>C	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047270	0.55110	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000295833	T;T	0.23950	1.88;1.9	5.42	5.42	0.78866	.	0.272597	0.40222	N	0.001143	T	0.36193	0.0958	L	0.40543	1.245	0.80722	D	1	P	0.36616	0.561	P	0.47941	0.562	T	0.09818	-1.0657	10	0.59425	D	0.04	-16.0414	18.2111	0.89871	0.0:0.0:1.0:0.0	.	290	Q8NB12	SMYD1_HUMAN	R	290;277;111	ENSP00000393453:G290R;ENSP00000407888:G277R	ENSP00000295833:G111R	G	+	1	0	SMYD1	88177398	1.000000	0.71417	0.997000	0.53966	0.447000	0.32167	7.501000	0.81600	2.512000	0.84698	0.561000	0.74099	GGG		PASS	0.507	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		15	68	15	68	---	---	---	---
SMYD1	150572	broad.mit.edu	37	2	88402583	88402583	+	Missense_Mutation	SNP	C	C	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr2:88402583C>G	ENST00000419482.2	+	7	980	c.895C>G	c.(895-897)Cag>Gag	p.Q299E	SMYD1_ENST00000444564.2_Missense_Mutation_p.Q286E|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	299					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.Q299E(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CCAGCCCTCTCAGGAAGTGGT	0.438																																						uc002ssr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(895-897)CAG>GAG		SET and MYND domain containing 1							88.0	85.0	86.0					2																	88402583		2203	4300	6503	SO:0001583	missense	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88402583C>G	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.895C>G	2.37:g.88402583C>G	ENSP00000393453:p.Gln299Glu					SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_5'UTR	p.Q299E	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN			7	897	+			299					A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	c.895C>G	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	C	2.775	-0.254772	0.05829	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000295833	T;T	0.20738	2.05;2.05	5.31	5.31	0.75309	.	0.298284	0.34750	N	0.003709	T	0.05731	0.0150	N	0.00707	-1.245	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29640	-1.0005	10	0.02654	T	1	-5.4223	13.1119	0.59278	0.0:0.7285:0.2715:0.0	.	299	Q8NB12	SMYD1_HUMAN	E	299;286;120	ENSP00000393453:Q299E;ENSP00000407888:Q286E	ENSP00000295833:Q120E	Q	+	1	0	SMYD1	88183698	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	3.830000	0.55768	2.497000	0.84241	0.551000	0.68910	CAG		PASS	0.438	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		11	67	11	67	---	---	---	---
ST6GAL2	84620	broad.mit.edu	37	2	107423361	107423361	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr2:107423361C>T	ENST00000409382.3	-	6	1973	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.E455K	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	455					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.E455K(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GGGATATATTCATACACGTGC	0.502																																						uc002tdq.2																			2	Substitution - Missense(2)		lung(1)|skin(1)	pancreas(6)|ovary(4)|skin(1)	11						c.(1363-1365)GAA>AAA		ST6 beta-galactosamide							57.0	53.0	55.0					2																	107423361		2203	4300	6503	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107423361C>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.1363G>A	2.37:g.107423361C>T	ENSP00000386942:p.Glu455Lys					ST6GAL2_uc002tdr.2_Missense_Mutation_p.E455K	p.E455K	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			6	1482	-			455			Lumenal (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.1363G>A	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662738	0.88251	.	.	ENSG00000144057	ENST00000361686;ENST00000409382	T;T	0.32988	1.43;1.43	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.67646	0.2915	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73811	-0.3865	10	0.49607	T	0.09	-32.0126	19.0512	0.93046	0.0:1.0:0.0:0.0	.	455	Q96JF0	SIAT2_HUMAN	K	455	ENSP00000355273:E455K;ENSP00000386942:E455K	ENSP00000355273:E455K	E	-	1	0	ST6GAL2	106789793	1.000000	0.71417	0.100000	0.21137	0.365000	0.29674	7.738000	0.84966	2.735000	0.93741	0.655000	0.94253	GAA		PASS	0.502	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		4	27	4	27	---	---	---	---
GLI2	2736	broad.mit.edu	37	2	121685040	121685040	+	Missense_Mutation	SNP	C	C	A	rs201412339	byFrequency	TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr2:121685040C>A	ENST00000452319.1	+	3	312	c.252C>A	c.(250-252)caC>caA	p.H84Q	GLI2_ENST00000361492.4_Missense_Mutation_p.H84Q|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR					GLI family zinc finger 2									p.H84Q(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ACGGTGTGCACGGGTAAGTCC	0.612																																						uc010flp.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(250-252)CAC>CAA		GLI-Kruppel family member GLI2							215.0	166.0	183.0					2																	121685040		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121685040C>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.252C>A	2.37:g.121685040C>A	ENSP00000390436:p.His84Gln					GLI2_uc010yyu.1_Missense_Mutation_p.H84Q|GLI2_uc002tmp.1_Missense_Mutation_p.H84Q|GLI2_uc010fln.1_RNA|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Missense_Mutation_p.H84Q|GLI2_uc010flo.1_Intron|GLI2_uc002tmw.1_Missense_Mutation_p.H84Q	p.H84Q	NM_005270	NP_005261	P10070	GLI2_HUMAN			2	282	+	Renal(3;0.0496)	Prostate(154;0.0623)	84						Missense_Mutation	SNP	ENST00000452319.1	37	c.252C>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099318	0.56183	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000440937;ENST00000360874	T;T;T	0.70045	-0.45;-0.45;-0.45	5.24	-2.05	0.07321	.	0.124304	0.53938	N	0.000053	T	0.76615	0.4012	M	0.69823	2.125	0.80722	D	1	D;D;P;D	0.76494	0.999;0.992;0.8;0.999	D;P;P;D	0.72625	0.978;0.862;0.476;0.935	T	0.76329	-0.2999	10	0.87932	D	0	.	12.9343	0.58305	0.0:0.4012:0.0:0.5988	.	84;84;84;84	B4DT63;P10070;Q0VGA0;F5H4D9	.;GLI2_HUMAN;.;.	Q	84;84;84;76	ENSP00000390436:H84Q;ENSP00000354586:H84Q;ENSP00000441454:H76Q	ENSP00000441454:H76Q	H	+	3	2	GLI2	121401510	0.530000	0.26330	0.723000	0.30687	0.851000	0.48451	-0.228000	0.09114	-0.575000	0.05982	-2.010000	0.00438	CAC		PASS	0.612	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		64	98	64	98	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	124783296	124783296	+	Missense_Mutation	SNP	A	A	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr2:124783296A>T	ENST00000431078.1	+	1	433	c.69A>T	c.(67-69)ttA>ttT	p.L23F	CNTNAP5_ENST00000423939.2_3'UTR|AC079154.1_ENST00000438816.1_RNA	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	23					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.L23F(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ATTTAGGATTAACAGCGACAA	0.502																																						uc002tno.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(67-69)TTA>TTT		contactin associated protein-like 5 precursor							95.0	97.0	97.0					2																	124783296		1987	4160	6147	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:124783296A>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.69A>T	2.37:g.124783296A>T	ENSP00000399013:p.Leu23Phe					CNTNAP5_uc010flu.2_Missense_Mutation_p.L23F	p.L23F	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	1	433	+			23					Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.69A>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.020131	0.35606	.	.	ENSG00000155052	ENST00000431078	D	0.88431	-2.38	5.29	-1.95	0.07548	.	0.210106	0.21615	N	0.071740	T	0.77170	0.4091	L	0.50333	1.59	0.32333	N	0.560846	B	0.02656	0.0	B	0.06405	0.002	T	0.59188	-0.7501	10	0.10111	T	0.7	.	0.6563	0.00835	0.4337:0.1255:0.168:0.2727	.	23	Q8WYK1	CNTP5_HUMAN	F	23	ENSP00000399013:L23F	ENSP00000399013:L23F	L	+	3	2	CNTNAP5	124499766	0.996000	0.38824	0.998000	0.56505	0.973000	0.67179	0.580000	0.23803	0.024000	0.15214	0.459000	0.35465	TTA		PASS	0.502	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			20	74	20	74	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133539769	133539769	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr2:133539769C>A	ENST00000409261.1	-	14	4988	c.4615G>T	c.(4615-4617)Gtc>Ttc	p.V1539F	NCKAP5_ENST00000317721.6_Missense_Mutation_p.V1539F|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1539								p.V1539F(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						AACCCCAAGACTTTTGCATCT	0.393																																						uc002ttp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(4615-4617)GTC>TTC		Nck-associated protein 5 isoform 1							95.0	96.0	96.0					2																	133539769		1823	4085	5908	SO:0001583	missense	344148						protein binding	g.chr2:133539769C>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.4615G>T	2.37:g.133539769C>A	ENSP00000387128:p.Val1539Phe					NCKAP5_uc002ttq.2_Intron	p.V1539F	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	4989	-			1539					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.4615G>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433585	0.25813	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.10668	2.85;2.85	4.96	1.97	0.26223	.	1.785520	0.04861	U	0.444212	T	0.10981	0.0268	N	0.19112	0.55	0.52501	D	0.999955	P	0.36315	0.547	B	0.41036	0.346	T	0.10917	-1.0609	10	0.42905	T	0.14	.	9.6833	0.40082	0.0:0.7457:0.0:0.2543	.	1539	O14513	NCKP5_HUMAN	F	1539	ENSP00000387128:V1539F;ENSP00000380603:V1539F	ENSP00000380603:V1539F	V	-	1	0	NCKAP5	133256239	1.000000	0.71417	0.337000	0.25536	0.977000	0.68977	1.195000	0.32186	0.691000	0.31592	0.591000	0.81541	GTC		PASS	0.393	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		52	142	52	142	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133636486	133636486	+	Nonsense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr2:133636486C>A	ENST00000409261.1	-	9	956	c.583G>T	c.(583-585)Gag>Tag	p.E195*	NCKAP5_ENST00000317721.6_Nonsense_Mutation_p.E195*|NCKAP5_ENST00000409213.1_Nonsense_Mutation_p.E195*|NCKAP5_ENST00000405974.3_Nonsense_Mutation_p.E195*	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	195								p.E195*(1)|p.E34*(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						GCTGAATTCTCTGCCTGCAGT	0.388																																						uc002ttp.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(583-585)GAG>TAG		Nck-associated protein 5 isoform 1							134.0	127.0	130.0					2																	133636486		1967	4140	6107	SO:0001587	stop_gained	344148						protein binding	g.chr2:133636486C>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.583G>T	2.37:g.133636486C>A	ENSP00000387128:p.Glu195*					NCKAP5_uc002ttq.2_Nonsense_Mutation_p.E195*	p.E195*	NM_207363	NP_997246	O14513	NCKP5_HUMAN			9	957	-			195			Potential.		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Nonsense_Mutation	SNP	ENST00000409261.1	37	c.583G>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	40	8.035676	0.98621	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	.	.	.	5.53	5.53	0.82687	.	0.000000	0.30639	U	0.009197	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.651	0.88164	0.0:1.0:0.0:0.0	.	.	.	.	X	195	.	ENSP00000380603:E195X	E	-	1	0	NCKAP5	133352956	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.672000	0.68102	2.628000	0.89032	0.561000	0.74099	GAG		PASS	0.388	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		16	68	16	68	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141359163	141359163	+	Missense_Mutation	SNP	G	G	C			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr2:141359163G>C	ENST00000389484.3	-	42	7816	c.6845C>G	c.(6844-6846)aCa>aGa	p.T2282R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2282					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.T2282R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCAGTACAGTGTATCCCAGGC	0.448										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(6844-6846)ACA>AGA		low density lipoprotein-related protein 1B							132.0	114.0	120.0					2																	141359163		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141359163G>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6845C>G	2.37:g.141359163G>C	ENSP00000374135:p.Thr2282Arg	TSP Lung(27;0.18)					p.T2282R	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	42	7817	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2282			Extracellular (Potential).|LDL-receptor class B 24.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.6845C>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394727	0.62066	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90620	-2.7	5.04	5.04	0.67666	Six-bladed beta-propeller, TolB-like (1);	0.133540	0.49305	D	0.000152	D	0.87462	0.6183	L	0.44542	1.39	0.58432	D	0.999993	P	0.50710	0.938	B	0.41860	0.368	D	0.85881	0.1422	10	0.22706	T	0.39	.	18.7339	0.91746	0.0:0.0:1.0:0.0	.	2282	Q9NZR2	LRP1B_HUMAN	R	2282;2220	ENSP00000374135:T2282R	ENSP00000374135:T2282R	T	-	2	0	LRP1B	141075633	1.000000	0.71417	0.956000	0.39512	0.983000	0.72400	9.752000	0.98900	2.491000	0.84063	0.561000	0.74099	ACA		PASS	0.448	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		12	44	12	44	---	---	---	---
SLC4A10	57282	broad.mit.edu	37	2	162760661	162760661	+	Silent	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr2:162760661G>T	ENST00000446997.1	+	13	1683	c.1590G>T	c.(1588-1590)ctG>ctT	p.L530L	SLC4A10_ENST00000415876.2_Silent_p.L500L|SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000375514.5_Silent_p.L511L|SLC4A10_ENST00000421911.1_Silent_p.L530L|SLC4A10_ENST00000272716.5_Silent_p.L500L	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	530					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.L530L(1)|p.L500L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TTGGAGGACTGCTGGGAGAAG	0.408																																						uc002ubx.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(2)|pancreas(1)	5						c.(1588-1590)CTG>CTT		solute carrier family 4, sodium bicarbonate							74.0	70.0	71.0					2																	162760661		1920	4172	6092	SO:0001819	synonymous_variant	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162760661G>T		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1590G>T	2.37:g.162760661G>T						SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Silent_p.L500L|SLC4A10_uc010zcs.1_Silent_p.L511L	p.L530L	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			13	1774	+			530			Helical; (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Silent	SNP	ENST00000446997.1	37	c.1590G>T	CCDS54411.1																																																																																				PASS	0.408	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		7	18	7	18	---	---	---	---
COL3A1	1281	broad.mit.edu	37	2	189868786	189868786	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr2:189868786C>A	ENST00000304636.3	+	39	2910	c.2740C>A	c.(2740-2742)Cct>Act	p.P914T	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	914	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.P914T(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	CACTGGTGCTCCTGGCAGCCC	0.567																																						uc002uqj.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(2740-2742)CCT>ACT		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						27.0	31.0	29.0					2																	189868786		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189868786C>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2740C>A	2.37:g.189868786C>A	ENSP00000304408:p.Pro914Thr						p.P914T	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		39	2857	+			914			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.2740C>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.519814	0.44866	.	.	ENSG00000168542	ENST00000304636	D	0.94092	-3.35	5.5	5.5	0.81552	.	0.000000	0.51477	D	0.000098	D	0.90484	0.7019	L	0.58669	1.825	0.80722	D	1	P	0.43094	0.799	B	0.35931	0.214	D	0.89663	0.3878	10	0.30854	T	0.27	.	15.7374	0.77856	0.0:0.8634:0.1366:0.0	.	914	P02461	CO3A1_HUMAN	T	914	ENSP00000304408:P914T	ENSP00000304408:P914T	P	+	1	0	COL3A1	189577031	0.013000	0.17824	0.984000	0.44739	0.854000	0.48673	0.512000	0.22755	2.590000	0.87494	0.551000	0.68910	CCT		PASS	0.567	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		4	40	4	40	---	---	---	---
SATB2	23314	broad.mit.edu	37	2	200298194	200298194	+	Silent	SNP	G	G	C			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr2:200298194G>C	ENST00000417098.1	-	3	1029	c.213C>G	c.(211-213)ggC>ggG	p.G71G	SATB2_ENST00000260926.5_Silent_p.G71G|SATB2_ENST00000443023.1_Intron|SATB2_ENST00000428695.1_Silent_p.G71G|SATB2_ENST00000457245.1_Silent_p.G71G	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	71					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.G71G(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATTCAAGAGAGCCGTCCAACT	0.473																																					Colon(30;262 767 11040 24421 36230)	uc002uuy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(211-213)GGC>GGG		SATB homeobox 2							112.0	111.0	111.0					2																	200298194		2203	4300	6503	SO:0001819	synonymous_variant	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200298194G>C	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.213C>G	2.37:g.200298194G>C						SATB2_uc010fsq.1_Silent_p.G71G|SATB2_uc002uuz.1_Silent_p.G71G|SATB2_uc002uva.1_Silent_p.G71G	p.G71G	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			3	1030	-			71					A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	ENST00000417098.1	37	c.213C>G	CCDS2327.1																																																																																				PASS	0.473	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		23	118	23	118	---	---	---	---
HDAC4	9759	broad.mit.edu	37	2	240029801	240029801	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr2:240029801C>T	ENST00000345617.3	-	15	2833	c.2042G>A	c.(2041-2043)aGg>aAg	p.R681K	HDAC4_ENST00000541256.1_Missense_Mutation_p.R655K|HDAC4_ENST00000543185.1_Missense_Mutation_p.R265K	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	681	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|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)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R681K(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCTCTGGATCCTCCCGGCGTG	0.692																																						uc002vyk.3																			1	Substitution - Missense(1)		lung(1)	breast(3)|skin(2)|ovary(1)	6						c.(2041-2043)AGG>AAG		histone deacetylase 4							28.0	28.0	28.0					2																	240029801		2192	4299	6491	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|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)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240029801C>T	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2042G>A	2.37:g.240029801C>T	ENSP00000264606:p.Arg681Lys					HDAC4_uc010fyz.1_Missense_Mutation_p.R676K|HDAC4_uc010zoa.1_Missense_Mutation_p.R681K|HDAC4_uc010fza.2_Missense_Mutation_p.R686K|HDAC4_uc010fyy.2_Missense_Mutation_p.R638K|HDAC4_uc010znz.1_Missense_Mutation_p.R564K	p.R681K	NM_006037	NP_006028	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	15	2834	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	681			Histone deacetylase.		Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.2042G>A	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	C	33	5.281944	0.95489	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.80123	-1.34;-1.34;-1.34	4.01	4.01	0.46588	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.94791	0.8318	H	0.99877	4.88	0.58432	D	0.999999	D;P;D;D;D;D	0.76494	0.995;0.871;0.999;0.997;0.997;0.997	D;P;D;D;D;D	0.87578	0.978;0.721;0.998;0.994;0.993;0.986	D	0.97750	1.0214	10	0.87932	D	0	.	16.5338	0.84367	0.0:1.0:0.0:0.0	.	681;564;655;655;649;681	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	K	681;569;265;655;564	ENSP00000264606:R681K;ENSP00000440481:R265K;ENSP00000443057:R655K	ENSP00000264606:R681K	R	-	2	0	HDAC4	239694738	0.966000	0.33281	0.975000	0.42487	0.997000	0.91878	7.412000	0.80091	1.962000	0.57031	0.563000	0.77884	AGG		PASS	0.692	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		6	27	6	27	---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1414067	1414067	+	Missense_Mutation	SNP	A	A	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr3:1414067A>T	ENST00000446702.2	+	13	2204	c.1577A>T	c.(1576-1578)gAc>gTc	p.D526V	CNTN6_ENST00000350110.2_Missense_Mutation_p.D526V|CNTN6_ENST00000539053.1_Missense_Mutation_p.D454V			Q9UQ52	CNTN6_HUMAN	contactin 6	526	Ig-like C2-type 6.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.D526V(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTGTCCCATGACCCCTCCATT	0.413																																						uc003boz.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(1576-1578)GAC>GTC		contactin 6 precursor							141.0	129.0	133.0					3																	1414067		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1414067A>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1577A>T	3.37:g.1414067A>T	ENSP00000407822:p.Asp526Val					CNTN6_uc011asj.1_Missense_Mutation_p.D454V|CNTN6_uc003bpa.2_Missense_Mutation_p.D526V	p.D526V	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	13	1844	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	526			Ig-like C2-type 6.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.1577A>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	A	18.63	3.665673	0.67700	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.66638	-0.22;-0.22;-0.22	5.8	5.8	0.92144	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000009	D	0.84732	0.5537	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87734	0.2581	10	0.87932	D	0	.	16.1506	0.81618	1.0:0.0:0.0:0.0	.	526	Q9UQ52	CNTN6_HUMAN	V	526;454;526	ENSP00000407822:D526V;ENSP00000442791:D454V;ENSP00000341882:D526V	ENSP00000341882:D526V	D	+	2	0	CNTN6	1389067	1.000000	0.71417	0.845000	0.33349	0.418000	0.31294	8.848000	0.92172	2.206000	0.71126	0.528000	0.53228	GAC		PASS	0.413	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		10	55	10	55	---	---	---	---
ATP2B2	491	broad.mit.edu	37	3	10370598	10370598	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr3:10370598C>A	ENST00000352432.4	-	22	3701	c.3632G>T	c.(3631-3633)aGc>aTc	p.S1211I	ATP2B2_ENST00000467702.2_5'UTR|ATP2B2_ENST00000397077.1_Missense_Mutation_p.S1166I|ATP2B2_ENST00000360273.2_Missense_Mutation_p.S1211I|ATP2B2_ENST00000343816.4_Missense_Mutation_p.S1197I|ATP2B2_ENST00000383800.4_Missense_Mutation_p.S1166I|MIR378B_ENST00000578876.1_RNA			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1211					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.S1211I(1)|p.S1166I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GTCGATGGCGCTGTTGTTCTT	0.577																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3631-3633)AGC>ATC		plasma membrane calcium ATPase 2 isoform 1							130.0	111.0	117.0					3																	10370598		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10370598C>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.3632G>T	3.37:g.10370598C>A	ENSP00000324172:p.Ser1211Ile					ATP2B2_uc003bvv.2_Missense_Mutation_p.S1166I|ATP2B2_uc003bvw.2_Missense_Mutation_p.S1166I|ATP2B2_uc003bvs.2_RNA|ATP2B2_uc010hdo.2_Missense_Mutation_p.S916I|hsa-mir-378b|MI0014154_5'Flank	p.S1211I	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			23	4071	-			1211			Cytoplasmic (Potential).		O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.3632G>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930389	0.52866	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000429937;ENST00000452124	D;D;D;D;D;D	0.92397	-3.02;-3.02;-3.02;-3.02;-3.03;-3.02	6.06	6.06	0.98353	.	0.705996	0.14998	N	0.286288	D	0.87966	0.6311	N	0.14661	0.345	0.44555	D	0.997511	P;P;B	0.40875	0.731;0.547;0.036	P;B;B	0.44359	0.447;0.397;0.04	D	0.88033	0.2776	10	0.87932	D	0	-32.1135	13.774	0.63041	0.0:0.9304:0.0:0.0696	.	1146;1178;1211	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	I	1211;1166;1166;1211;1197;1146;400;1067	ENSP00000324172:S1211I;ENSP00000373311:S1166I;ENSP00000380267:S1166I;ENSP00000353414:S1211I;ENSP00000344677:S1197I;ENSP00000414854:S1067I	ENSP00000344677:S1197I	S	-	2	0	ATP2B2	10345598	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.787000	0.62432	2.879000	0.98667	0.650000	0.86243	AGC		PASS	0.577	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		15	48	15	48	---	---	---	---
HRH1	3269	broad.mit.edu	37	3	11300949	11300949	+	Missense_Mutation	SNP	G	G	T	rs370754604		TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr3:11300949G>T	ENST00000397056.1	+	3	417	c.226G>T	c.(226-228)Gtg>Ttg	p.V76L	HRH1_ENST00000438284.2_Missense_Mutation_p.V76L|HRH1_ENST00000431010.2_Missense_Mutation_p.V76L	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	76					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)	p.V76L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GGACTTGATCGTGGGTGCCGT	0.572																																						uc010hdr.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(226-228)GTG>TTG		histamine receptor H1	Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)						162.0	129.0	140.0					3																	11300949		2203	4300	6503	SO:0001583	missense	3269				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	g.chr3:11300949G>T		CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.226G>T	3.37:g.11300949G>T	ENSP00000380247:p.Val76Leu					HRH1_uc010hds.2_Missense_Mutation_p.V76L|HRH1_uc010hdt.2_Missense_Mutation_p.V76L|HRH1_uc003bwb.3_Missense_Mutation_p.V76L	p.V76L	NM_001098213	NP_001091683	P35367	HRH1_HUMAN			2	568	+			76			Helical; Name=2; (Potential).		A8K047|Q6P9E5	Missense_Mutation	SNP	ENST00000397056.1	37	c.226G>T	CCDS2604.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941719	0.92526	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.19105	2.17;2.17;2.17	5.87	5.87	0.94306	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.47266	0.1436	M	0.62016	1.91	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.23940	-1.0174	10	0.54805	T	0.06	-22.967	20.2079	0.98282	0.0:0.0:1.0:0.0	.	76	P35367	HRH1_HUMAN	L	76	ENSP00000406705:V76L;ENSP00000397028:V76L;ENSP00000380247:V76L	ENSP00000380247:V76L	V	+	1	0	HRH1	11275949	1.000000	0.71417	0.979000	0.43373	0.700000	0.40528	6.632000	0.74281	2.781000	0.95711	0.655000	0.94253	GTG		PASS	0.572	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2			26	68	26	68	---	---	---	---
OXSM	54995	broad.mit.edu	37	3	25832949	25832949	+	Silent	SNP	T	T	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr3:25832949T>A	ENST00000280701.3	+	2	537	c.438T>A	c.(436-438)acT>acA	p.T146T	NGLY1_ENST00000417874.2_5'Flank|OXSM_ENST00000420173.2_Silent_p.T146T|OXSM_ENST00000449808.1_Intron	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	146					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)	p.T146T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AAGTGGCTACTGGTGTTGCAA	0.438																																						uc003cdn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(436-438)ACT>ACA		3-oxoacyl-ACP synthase, mitochondrial isoform 1							103.0	99.0	100.0					3																	25832949		2203	4300	6503	SO:0001819	synonymous_variant	54995				acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	g.chr3:25832949T>A	BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.438T>A	3.37:g.25832949T>A						NGLY1_uc011awo.1_5'Flank|OXSM_uc011awp.1_Intron|OXSM_uc010hfh.2_Silent_p.T146T	p.T146T	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN			2	545	+			146						Silent	SNP	ENST00000280701.3	37	c.438T>A	CCDS2643.1																																																																																				PASS	0.438	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897		34	87	34	87	---	---	---	---
OXSM	54995	broad.mit.edu	37	3	25832953	25832953	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr3:25832953G>T	ENST00000280701.3	+	2	541	c.442G>T	c.(442-444)Gtt>Ttt	p.V148F	NGLY1_ENST00000417874.2_5'Flank|OXSM_ENST00000420173.2_Missense_Mutation_p.V148F|OXSM_ENST00000449808.1_Intron	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	148					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)	p.V148F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GGCTACTGGTGTTGCAATTGG	0.443																																						uc003cdn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(442-444)GTT>TTT		3-oxoacyl-ACP synthase, mitochondrial isoform 1							104.0	99.0	101.0					3																	25832953		2203	4300	6503	SO:0001583	missense	54995				acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	g.chr3:25832953G>T	BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.442G>T	3.37:g.25832953G>T	ENSP00000280701:p.Val148Phe					NGLY1_uc011awo.1_5'Flank|OXSM_uc011awp.1_Intron|OXSM_uc010hfh.2_Missense_Mutation_p.V148F	p.V148F	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN			2	549	+			148						Missense_Mutation	SNP	ENST00000280701.3	37	c.442G>T	CCDS2643.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948751	0.92660	.	.	ENSG00000151093	ENST00000452098;ENST00000280701;ENST00000420173;ENST00000428266	.	.	.	6.16	6.16	0.99307	Beta-ketoacyl synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.110625	0.64402	D	0.000009	D	0.91422	0.7293	H	0.98276	4.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93589	0.6919	9	0.87932	D	0	-36.5635	20.8598	0.99761	0.0:0.0:1.0:0.0	.	148;148	Q9NWU1-2;Q9NWU1	.;OXSM_HUMAN	F	148	.	ENSP00000280701:V148F	V	+	1	0	OXSM	25807957	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	9.765000	0.98953	2.937000	0.99478	0.650000	0.86243	GTT		PASS	0.443	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897		36	85	36	85	---	---	---	---
ERC2	26059	broad.mit.edu	37	3	55922476	55922476	+	Silent	SNP	C	C	A	rs375928296	byFrequency	TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr3:55922476C>A	ENST00000288221.6	-	14	2760	c.2505G>T	c.(2503-2505)gcG>gcT	p.A835A		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	835						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)		p.A835A(2)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGGCCAAGTGCGCTTCTTTTT	0.537																																						uc003dhr.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(2503-2505)GCG>GCT		cytomatrix protein p110							189.0	194.0	192.0					3																	55922476		2041	4197	6238	SO:0001819	synonymous_variant	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55922476C>A	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2505G>T	3.37:g.55922476C>A						ERC2_uc003dhq.1_RNA|ERC2_uc003dht.1_Silent_p.A314A	p.A835A	NM_015576	NP_056391	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	14	2761	-			835			Potential.		Q2T9F6|Q86TK4	Silent	SNP	ENST00000288221.6	37	c.2505G>T	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	C	9.330	1.060187	0.19987	.	.	ENSG00000187672	ENST00000492584	.	.	.	5.79	-11.6	0.00059	.	.	.	.	.	T	0.46946	0.1419	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60125	-0.7324	4	.	.	.	-12.7139	10.1988	0.43071	0.0837:0.1112:0.6359:0.1692	.	.	.	.	L	482	.	.	R	-	2	0	ERC2	55897516	0.000000	0.05858	0.293000	0.24932	0.928000	0.56348	-4.380000	0.00243	-1.926000	0.01061	-0.367000	0.07326	CGC		PASS	0.537	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		42	140	42	140	---	---	---	---
GPR15	2838	broad.mit.edu	37	3	98251656	98251656	+	Missense_Mutation	SNP	T	T	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr3:98251656T>G	ENST00000284311.3	+	1	914	c.779T>G	c.(778-780)tTc>tGc	p.F260C		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	260					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.F260C(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		TTCAATACTTTCAAGTTCCTG	0.458																																						uc011bgy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(778-780)TTC>TGC		G protein-coupled receptor 15							80.0	74.0	76.0					3																	98251656		2203	4300	6503	SO:0001583	missense	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98251656T>G		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.779T>G	3.37:g.98251656T>G	ENSP00000284311:p.Phe260Cys						p.F260C	NM_005290	NP_005281	P49685	GPR15_HUMAN		Lung(72;0.246)	1	779	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	260			Helical; Name=6; (Potential).		Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	c.779T>G	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.214762	0.58452	.	.	ENSG00000154165	ENST00000284311	T	0.73258	-0.73	4.92	4.92	0.64577	GPCR, rhodopsin-like superfamily (1);	0.123452	0.36167	N	0.002745	T	0.80999	0.4732	M	0.77103	2.36	0.42683	D	0.993552	D	0.76494	0.999	D	0.71414	0.973	T	0.82600	-0.0377	10	0.66056	D	0.02	-17.9226	7.4442	0.27201	0.0:0.0949:0.0:0.9051	.	260	P49685	GPR15_HUMAN	C	260	ENSP00000284311:F260C	ENSP00000284311:F260C	F	+	2	0	GPR15	99734346	1.000000	0.71417	0.987000	0.45799	0.933000	0.57130	4.110000	0.57831	2.203000	0.70933	0.533000	0.62120	TTC		PASS	0.458	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			35	64	35	64	---	---	---	---
ZBTB20	26137	broad.mit.edu	37	3	114070443	114070443	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr3:114070443C>A	ENST00000474710.1	-	4	660	c.482G>T	c.(481-483)gGc>gTc	p.G161V	ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000481632.1_Missense_Mutation_p.G88V|ZBTB20_ENST00000471418.1_Missense_Mutation_p.G88V|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000357258.3_Missense_Mutation_p.G88V|ZBTB20_ENST00000393785.2_Missense_Mutation_p.G88V|ZBTB20_ENST00000464560.1_Missense_Mutation_p.G88V|ZBTB20_ENST00000462705.1_Missense_Mutation_p.G88V	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	161	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					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 negative regulation of transcription (GO:0001078)	p.G88V(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CCGTAGCACGCCGCTGTACAT	0.562																																					NSCLC(69;748 1344 9802 11203 30933)	uc003ebi.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(481-483)GGC>GTC		zinc finger and BTB domain containing 20 isoform							84.0	71.0	75.0					3																	114070443		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070443C>A	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.482G>T	3.37:g.114070443C>A	ENSP00000419153:p.Gly161Val					ZBTB20_uc003ebj.2_Missense_Mutation_p.G88V|ZBTB20_uc010hqp.2_Missense_Mutation_p.G88V|ZBTB20_uc003ebk.2_Missense_Mutation_p.G88V|ZBTB20_uc003ebl.2_Missense_Mutation_p.G88V|ZBTB20_uc003ebm.2_Missense_Mutation_p.G88V|ZBTB20_uc003ebn.2_Missense_Mutation_p.G88V|uc003ebo.1_5'Flank	p.G161V	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	4	662	-			161			BTB.		Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.482G>T	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993471	0.74703	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.86	5.86	0.93980	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.70307	0.3209	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78919	-0.2014	10	0.87932	D	0	.	20.1996	0.98256	0.0:1.0:0.0:0.0	.	161	Q9HC78	ZBT20_HUMAN	V	88;88;88;88;161;88;88	ENSP00000420324:G88V;ENSP00000377375:G88V;ENSP00000418092:G88V;ENSP00000419902:G88V;ENSP00000419153:G161V;ENSP00000349803:G88V;ENSP00000417307:G88V	ENSP00000349803:G88V	G	-	2	0	ZBTB20	115553133	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.776000	0.95493	0.650000	0.86243	GGC		PASS	0.562	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		42	35	42	35	---	---	---	---
IGSF11	152404	broad.mit.edu	37	3	118647366	118647366	+	Silent	SNP	G	G	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr3:118647366G>A	ENST00000393775.2	-	3	719	c.414C>T	c.(412-414)ctC>ctT	p.L138L	IGSF11_ENST00000354673.2_Silent_p.L137L|IGSF11_ENST00000491903.1_Silent_p.L138L|IGSF11_ENST00000425327.2_Silent_p.L137L|IGSF11_ENST00000441144.2_Silent_p.L137L|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000489689.1_Silent_p.L138L	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	138					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L137L(1)|p.L138L(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTAACACTGTGAGACCGGTGA	0.493																																						uc003ebw.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(412-414)CTC>CTT		immunoglobulin superfamily, member 11 isoform b							130.0	115.0	120.0					3																	118647366		2203	4300	6503	SO:0001819	synonymous_variant	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118647366G>A	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.414C>T	3.37:g.118647366G>A						IGSF11_uc011biv.1_Silent_p.L138L|IGSF11_uc003ebx.2_Silent_p.L138L|IGSF11_uc003eby.2_Silent_p.L137L|IGSF11_uc003ebz.2_Silent_p.L137L|IGSF11_uc010hqs.2_Silent_p.L137L	p.L138L	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN			3	661	-			138			Extracellular (Potential).		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Silent	SNP	ENST00000393775.2	37	c.414C>T	CCDS46891.1																																																																																				PASS	0.493	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			9	72	9	72	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134670256	134670256	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr3:134670256G>T	ENST00000398015.3	+	3	537	c.167G>T	c.(166-168)cGc>cTc	p.R56L	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	56	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.R56L(2)|p.R56P(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AACACCATCCGCACCTACCAG	0.517																																						uc003eqt.2																			3	Substitution - Missense(3)	p.R56P(1)	lung(3)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(166-168)CGC>CTC		ephrin receptor EphB1 precursor							38.0	43.0	41.0					3																	134670256		2155	4278	6433	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134670256G>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.167G>T	3.37:g.134670256G>T	ENSP00000381097:p.Arg56Leu					EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Missense_Mutation_p.R56L	p.R56L	NM_004441	NP_004432	P54762	EPHB1_HUMAN			3	387	+			56			Extracellular (Potential).		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.167G>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119746	0.94385	.	.	ENSG00000154928	ENST00000460895;ENST00000398015;ENST00000497173;ENST00000473867;ENST00000474732	T;T;T;T;T	0.04317	3.65;3.65;3.65;3.65;3.65	5.64	5.64	0.86602	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.30603	0.0770	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.14587	-1.0467	10	0.87932	D	0	.	19.7209	0.96143	0.0:0.0:1.0:0.0	.	56;56	B5A969;P54762	.;EPHB1_HUMAN	L	34;56;34;34;34	ENSP00000417435:R34L;ENSP00000381097:R56L;ENSP00000419688:R34L;ENSP00000417216:R34L;ENSP00000418352:R34L	ENSP00000381097:R56L	R	+	2	0	EPHB1	136152946	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.651000	0.90000	0.650000	0.86243	CGC		PASS	0.517	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		14	16	14	16	---	---	---	---
GK5	256356	broad.mit.edu	37	3	141917686	141917686	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr3:141917686C>A	ENST00000392993.2	-	5	652	c.501G>T	c.(499-501)caG>caT	p.Q167H	GK5_ENST00000544571.1_Missense_Mutation_p.Q167H	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	167					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)	p.Q167H(1)		kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						TCAAAGAAGTCTGCTGGGTTG	0.353																																						uc003euq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(499-501)CAG>CAT		glycerol kinase 5 (putative)							94.0	94.0	94.0					3																	141917686		2203	4300	6503	SO:0001583	missense	256356				glycerol metabolic process		ATP binding|glycerol kinase activity	g.chr3:141917686C>A	BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"""Glycerol kinases"""	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.501G>T	3.37:g.141917686C>A	ENSP00000418001:p.Gln167His					GK5_uc010hus.1_RNA|GK5_uc010hut.1_RNA	p.Q167H	NM_001039547	NP_001034636	Q6ZS86	GLPK5_HUMAN			5	632	-			167					B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Missense_Mutation	SNP	ENST00000392993.2	37	c.501G>T	CCDS33871.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.407353	0.01155	.	.	ENSG00000175066	ENST00000392993;ENST00000544571	T;T	0.42900	0.96;0.96	5.33	-10.5	0.00291	Carbohydrate kinase, FGGY, N-terminal (1);	0.246207	0.47093	N	0.000255	T	0.11623	0.0283	N	0.04203	-0.255	0.20873	N	0.999839	B	0.06786	0.001	B	0.09377	0.004	T	0.05500	-1.0881	10	0.87932	D	0	-3.3607	1.9184	0.03302	0.2601:0.2805:0.307:0.1524	.	167	Q6ZS86	GLPK5_HUMAN	H	167	ENSP00000418001:Q167H;ENSP00000440860:Q167H	ENSP00000418001:Q167H	Q	-	3	2	GK5	143400376	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	-1.954000	0.01525	-2.251000	0.00700	-1.130000	0.01982	CAG		PASS	0.353	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353999.1	NM_001039547		6	74	6	74	---	---	---	---
ERICH6	131831	broad.mit.edu	37	3	150377748	150377748	+	Silent	SNP	A	A	C			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr3:150377748A>C	ENST00000295910.6	-	14	1975	c.1923T>G	c.(1921-1923)ctT>ctG	p.L641L	FAM194A_ENST00000491361.1_Silent_p.L495L	NM_152394.3	NP_689607.2												p.L641L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AACTGTGACAAAGGGCAATTA	0.313																																						uc003eyg.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(1921-1923)CTT>CTG		hypothetical protein LOC131831							93.0	98.0	97.0					3																	150377748		2203	4300	6503	SO:0001819	synonymous_variant	131831							g.chr3:150377748A>C																												ENST00000295910.6:c.1923T>G	3.37:g.150377748A>C						FAM194A_uc003eyh.2_Silent_p.L495L	p.L641L	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN			14	1980	-			641						Silent	SNP	ENST00000295910.6	37	c.1923T>G	CCDS3151.2																																																																																				PASS	0.313	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			56	82	56	82	---	---	---	---
AADAC	13	broad.mit.edu	37	3	151535239	151535239	+	Missense_Mutation	SNP	C	C	T	rs150521396		TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr3:151535239C>T	ENST00000232892.7	+	2	350	c.224C>T	c.(223-225)tCa>tTa	p.S75L	RP11-454C18.2_ENST00000475855.1_RNA|AADAC_ENST00000488869.1_Missense_Mutation_p.S75L|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	75					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)	p.S75L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CCACCAACCTCAGATGAAAAT	0.413																																					Ovarian(30;839 841 2699 32801 46334)	uc003eze.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(223-225)TCA>TTA		arylacetamide deacetylase		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	88.0	83.0	85.0		224	5.0	0.9	3	dbSNP_134	85	0,8600		0,0,4300	no	missense	AADAC	NM_001086.2	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	75/400	151535239	1,13005	2203	4300	6503	SO:0001583	missense	13				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	g.chr3:151535239C>T	L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"""arylacetamide deacetylase (esterase)"""			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.224C>T	3.37:g.151535239C>T	ENSP00000232892:p.Ser75Leu						p.S75L	NM_001086	NP_001077	P22760	AAAD_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		2	314	+		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	75			Lumenal (Potential).		A8K3L3|D3DNJ6|Q8N1A9	Missense_Mutation	SNP	ENST00000232892.7	37	c.224C>T	CCDS33877.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764258	0.89932	2.27E-4	0.0	ENSG00000114771	ENST00000232892;ENST00000488869	T;T	0.57752	0.38;2.68	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.77260	0.4104	M	0.88906	2.99	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.82857	-0.0250	10	0.87932	D	0	-3.7094	18.1908	0.89806	0.0:1.0:0.0:0.0	.	75	P22760	AAAD_HUMAN	L	75	ENSP00000232892:S75L;ENSP00000419620:S75L	ENSP00000232892:S75L	S	+	2	0	AADAC	153017929	0.992000	0.36948	0.865000	0.33974	0.980000	0.70556	5.135000	0.64777	2.289000	0.77006	0.591000	0.81541	TCA		PASS	0.413	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2	NM_001086		18	78	18	78	---	---	---	---
ECT2	1894	broad.mit.edu	37	3	172537961	172537961	+	Silent	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr3:172537961C>T	ENST00000392692.3	+	25	2855	c.2679C>T	c.(2677-2679)gtC>gtT	p.V893V	ECT2_ENST00000540509.1_Silent_p.V893V|ECT2_ENST00000441497.2_Silent_p.V862V|ECT2_ENST00000417960.1_Silent_p.V861V|ECT2_ENST00000232458.5_Silent_p.V862V	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	893					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.V862V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CCTCCCTTGTCAGCCTTCCTT	0.318																																						uc003fii.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(2584-2586)GTC>GTT		epithelial cell transforming sequence 2 oncogene							100.0	103.0	102.0					3																	172537961		2203	4299	6502	SO:0001819	synonymous_variant	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172537961C>T	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.2679C>T	3.37:g.172537961C>T						ECT2_uc003fih.2_Silent_p.V861V|ECT2_uc003fij.1_Silent_p.V862V|ECT2_uc003fik.1_Silent_p.V862V|ECT2_uc003fil.1_Silent_p.V893V|ECT2_uc003fim.1_3'UTR	p.V862V	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		24	2724	+	Ovarian(172;0.00197)|Breast(254;0.158)		862					Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Silent	SNP	ENST00000392692.3	37	c.2586C>T	CCDS58860.1																																																																																				PASS	0.318	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		17	155	17	155	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178928298	178928298	+	Missense_Mutation	SNP	A	A	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr3:178928298A>T	ENST00000263967.3	+	9	1641	c.1484A>T	c.(1483-1485)cAt>cTt	p.H495L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	495					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H495L(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATTGAAGAGCATGCCAATTGG	0.418		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		2	Substitution - Missense(2)		lung(2)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1483-1485)CAT>CTT		phosphoinositide-3-kinase, catalytic, alpha							142.0	135.0	137.0					3																	178928298		1904	4117	6021	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178928298A>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1484A>T	3.37:g.178928298A>T	ENSP00000263967:p.His495Leu	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H495L	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		9	1641	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		495					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1484A>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.812549	0.50527	.	.	ENSG00000121879	ENST00000263967	T	0.72051	-0.62	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.55752	0.1940	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.52373	-0.8584	10	0.11485	T	0.65	-10.208	15.4807	0.75524	1.0:0.0:0.0:0.0	.	495	P42336	PK3CA_HUMAN	L	495	ENSP00000263967:H495L	ENSP00000263967:H495L	H	+	2	0	PIK3CA	180410992	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.073000	0.62155	0.533000	0.62120	CAT		PASS	0.418	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			39	63	39	63	---	---	---	---
RGS12	6002	broad.mit.edu	37	4	3422404	3422404	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr4:3422404G>A	ENST00000344733.5	+	10	3701	c.2797G>A	c.(2797-2799)Gag>Aag	p.E933K	RGS12_ENST00000382788.3_Missense_Mutation_p.E933K|RGS12_ENST00000338806.4_Missense_Mutation_p.E285K|RGS12_ENST00000538395.1_Missense_Mutation_p.E275K|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000336727.3_Missense_Mutation_p.E933K|RGS12_ENST00000306648.7_Missense_Mutation_p.E331K	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	933					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)	p.E933K(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GTGTCGCCGAGAGTCGCAGGG	0.602																																						uc003ggw.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2797-2799)GAG>AAG		regulator of G-protein signalling 12 isoform 1							79.0	72.0	74.0					4																	3422404		2203	4300	6503	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3422404G>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.2797G>A	4.37:g.3422404G>A	ENSP00000339381:p.Glu933Lys					RGS12_uc003ggv.2_Missense_Mutation_p.E933K|RGS12_uc003ggy.1_Missense_Mutation_p.E331K|RGS12_uc003ggz.2_Missense_Mutation_p.E285K|RGS12_uc010icu.1_Missense_Mutation_p.E132K|RGS12_uc011bvs.1_Missense_Mutation_p.E275K|RGS12_uc003gha.2_Missense_Mutation_p.E275K|RGS12_uc010icv.2_Missense_Mutation_p.E132K|RGS12_uc003ghb.2_Missense_Mutation_p.E132K	p.E933K	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	10	3701	+			933					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.2797G>A	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	34	5.349586	0.95830	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	T;T;T;T;T;T	0.39592	1.38;1.38;1.38;1.1;1.07;1.12	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.66137	0.2759	M	0.80746	2.51	0.53688	D	0.999976	D;D;D;D;D;D;D;D	0.76494	0.971;0.981;0.981;0.997;0.999;0.971;0.997;0.995	P;P;P;D;D;P;D;D	0.72982	0.772;0.721;0.721;0.979;0.979;0.772;0.961;0.97	T	0.70842	-0.4762	10	0.52906	T	0.07	-37.6141	16.4911	0.84201	0.0:0.0:1.0:0.0	.	275;132;132;275;285;331;933;933	B7Z764;B3KVS7;A8K440;O14924-2;O14924-3;Q8WX95;O14924;O14924-4	.;.;.;.;.;.;RGS12_HUMAN;.	K	933;933;933;331;285;275	ENSP00000339381:E933K;ENSP00000338509:E933K;ENSP00000372238:E933K;ENSP00000304459:E331K;ENSP00000342133:E285K;ENSP00000438888:E275K	ENSP00000304459:E331K	E	+	1	0	RGS12	3392202	1.000000	0.71417	0.985000	0.45067	0.947000	0.59692	8.548000	0.90669	2.126000	0.65437	0.655000	0.94253	GAG		PASS	0.602	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		9	59	9	59	---	---	---	---
DRD5	1816	broad.mit.edu	37	4	9783772	9783772	+	Missense_Mutation	SNP	A	A	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr4:9783772A>G	ENST00000304374.2	+	1	515	c.119A>G	c.(118-120)cAg>cGg	p.Q40R		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	40					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.Q40R(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GGGCCCTCACAGGTGGTCACC	0.711																																						uc003gmb.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(118-120)CAG>CGG		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						13.0	11.0	12.0					4																	9783772		2196	4291	6487	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9783772A>G	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.119A>G	4.37:g.9783772A>G	ENSP00000306129:p.Gln40Arg						p.Q40R	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	515	+			40			Helical; Name=1; (Potential).		B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.119A>G	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	a	0.008	-1.861921	0.00552	.	.	ENSG00000169676	ENST00000304374	T	0.37584	1.19	3.77	3.77	0.43336	.	0.144445	0.49305	N	0.000146	T	0.19485	0.0468	N	0.17082	0.46	0.39066	D	0.960613	B	0.02656	0.0	B	0.04013	0.001	T	0.07233	-1.0783	10	0.07325	T	0.83	.	11.8417	0.52357	1.0:0.0:0.0:0.0	.	40	P21918	DRD5_HUMAN	R	40	ENSP00000306129:Q40R	ENSP00000306129:Q40R	Q	+	2	0	DRD5	9392870	0.998000	0.40836	0.998000	0.56505	0.242000	0.25591	0.739000	0.26173	1.575000	0.49775	0.254000	0.18369	CAG		PASS	0.711	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			5	14	5	14	---	---	---	---
SLC2A9	56606	broad.mit.edu	37	4	9828172	9828172	+	Missense_Mutation	SNP	C	C	A	rs184184711		TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr4:9828172C>A	ENST00000264784.3	-	12	1525	c.1472G>T	c.(1471-1473)gGt>gTt	p.G491V	SLC2A9_ENST00000309065.3_Missense_Mutation_p.G462V|SLC2A9_ENST00000506583.1_Missense_Mutation_p.G462V	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	491					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)	p.G491V(1)|p.G462V(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	GTAGATAGCACCTGTGATACA	0.408													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18830	0.0		0.0	False		,,,				2504	0.0					uc003gmc.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1471-1473)GGT>GTT		solute carrier family 2, member 9 protein							109.0	103.0	105.0					4																	9828172		2203	4300	6503	SO:0001583	missense	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9828172C>A	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.1472G>T	4.37:g.9828172C>A	ENSP00000264784:p.Gly491Val					SLC2A9_uc003gmd.2_Missense_Mutation_p.G462V	p.G491V	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN			12	1533	-			491			Helical; Name=12; (Potential).		Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	37	c.1472G>T	CCDS3407.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.60	1.394594	0.25205	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065	T;T;T	0.41400	1.0;1.0;1.0	6.01	5.17	0.71159	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.245601	0.40728	N	0.001035	T	0.37625	0.1010	L	0.41027	1.25	0.58432	D	0.999991	P;P	0.43231	0.763;0.801	B;B	0.42916	0.28;0.402	T	0.11665	-1.0578	10	0.33141	T	0.24	.	12.8033	0.57598	0.0:0.9216:0.0:0.0784	.	462;491	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	V	462;491;462	ENSP00000422209:G462V;ENSP00000264784:G491V;ENSP00000311383:G462V	ENSP00000264784:G491V	G	-	2	0	SLC2A9	9437270	0.937000	0.31787	0.764000	0.31436	0.410000	0.31052	2.454000	0.44979	1.550000	0.49438	0.650000	0.86243	GGT		PASS	0.408	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			39	90	39	90	---	---	---	---
NKX3-2	579	broad.mit.edu	37	4	13544134	13544134	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr4:13544134G>T	ENST00000382438.5	-	2	1120	c.485C>A	c.(484-486)aCc>aAc	p.T162N		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	162					determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|intestinal epithelial cell development (GO:0060576)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|organ formation (GO:0048645)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|spleen development (GO:0048536)|transcription from RNA polymerase II promoter (GO:0006366)	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 negative regulation of transcription (GO:0001078)	p.T162N(1)		breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						GTCGTCCTCGGTCCTTGGGCT	0.726																																						uc003gmx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(484-486)ACC>AAC		NK3 homeobox 2							17.0	21.0	20.0					4																	13544134		1733	3342	5075	SO:0001583	missense	579				negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:13544134G>T	AF009801	CCDS3410.1	4p16.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000109705	ENSG00000109705		"""Homeoboxes / ANTP class : NKL subclass"""	951	protein-coding gene	gene with protein product		602183	"""bagpipe homeobox homolog 1 (Drosophila)"""	BAPX1		9344671	Standard	NM_001189		Approved	NKX3B, NKX3.2	uc003gmx.2	P78367	OTTHUMG00000090657	ENST00000382438.5:c.485C>A	4.37:g.13544134G>T	ENSP00000371875:p.Thr162Asn						p.T162N	NM_001189	NP_001180	P78367	NKX32_HUMAN			2	561	-			162					Q2M2I7	Missense_Mutation	SNP	ENST00000382438.5	37	c.485C>A	CCDS3410.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376924	0.24857	.	.	ENSG00000109705	ENST00000382438	D	0.91180	-2.8	5.31	3.52	0.40303	.	0.551000	0.19849	N	0.104661	T	0.79575	0.4469	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.62172	-0.6910	10	0.15952	T	0.53	.	8.3907	0.32526	0.0846:0.1544:0.7609:0.0	.	162	P78367	NKX32_HUMAN	N	162	ENSP00000371875:T162N	ENSP00000371875:T162N	T	-	2	0	NKX3-2	13153232	0.000000	0.05858	0.046000	0.18839	0.864000	0.49448	0.172000	0.16704	0.573000	0.29400	0.561000	0.74099	ACC		PASS	0.726	NKX3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207317.3			8	40	8	40	---	---	---	---
BOD1L1	259282	broad.mit.edu	37	4	13616019	13616019	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr4:13616019C>A	ENST00000040738.5	-	4	1110	c.975G>T	c.(973-975)aaG>aaT	p.K325N		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	325	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K325N(1)									TGCTGTCTGGCTTCTTTTCAC	0.313																																						uc003gmz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)	6						c.(973-975)AAG>AAT		biorientation of chromosomes in cell division							68.0	59.0	62.0					4																	13616019		2200	4287	6487	SO:0001583	missense	259282						DNA binding	g.chr4:13616019C>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.975G>T	4.37:g.13616019C>A	ENSP00000040738:p.Lys325Asn					BOD1L_uc010idr.1_5'UTR|BOD1L_uc010ids.1_RNA	p.K325N	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			4	1092	-			325			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.975G>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130052	0.56721	.	.	ENSG00000038219	ENST00000040738	T	0.18502	2.21	5.45	-1.86	0.07760	.	0.000000	0.47852	D	0.000217	T	0.33760	0.0874	M	0.66939	2.045	0.23478	N	0.997591	D	0.89917	1.0	D	0.85130	0.997	T	0.12578	-1.0542	10	0.52906	T	0.07	-9.6298	11.8337	0.52309	0.0:0.491:0.0:0.509	.	325	Q8NFC6	BOD1L_HUMAN	N	325	ENSP00000040738:K325N	ENSP00000040738:K325N	K	-	3	2	BOD1L	13225117	1.000000	0.71417	0.241000	0.24154	0.968000	0.65278	1.180000	0.32005	-0.460000	0.07003	0.591000	0.81541	AAG		PASS	0.313	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		9	9	9	9	---	---	---	---
PCDH7	5099	broad.mit.edu	37	4	30921915	30921915	+	Silent	SNP	G	G	C	rs544189364		TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr4:30921915G>C	ENST00000543491.1	+	2	3315	c.3315G>C	c.(3313-3315)gcG>gcC	p.A1105A	PCDH7_ENST00000509925.1_3'UTR			O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A1058A(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GACTGGGTGCGCTTCCACTCC	0.542																																						uc011bxx.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(3313-3315)GCG>GCC		protocadherin 7 isoform a precursor							100.0	108.0	105.0					4																	30921915		2182	4292	6474	SO:0001819	synonymous_variant	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30921915G>C	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000543491.1:c.3315G>C	4.37:g.30921915G>C						PCDH7_uc011bxw.1_Silent_p.A1058A	p.A1105A	NM_002589	NP_002580	O60245	PCDH7_HUMAN			2	4323	+			Error:Variant_position_missing_in_O60245_after_alignment					O60246|O60247|Q4W5C4	Silent	SNP	ENST00000543491.1	37	c.3315G>C	CCDS54753.1	.	.	.	.	.	.	.	.	.	.	C	9.103	1.004557	0.19199	.	.	ENSG00000169851	ENST00000511884	T	0.53206	0.63	5.9	5.9	0.94986	.	.	.	.	.	T	0.37019	0.0988	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.18745	-1.0327	6	0.02654	T	1	.	17.337	0.87285	0.0:0.875:0.125:0.0	.	.	.	.	P	795	ENSP00000427066:A795P	ENSP00000427066:A795P	A	+	1	0	PCDH7	30531013	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.788000	0.69020	1.512000	0.48834	-0.127000	0.14921	GCT		PASS	0.542	PCDH7-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032457, NM_002589		16	61	16	61	---	---	---	---
FDCSP	260436	broad.mit.edu	37	4	71099810	71099810	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr4:71099810C>A	ENST00000317987.5	+	4	276	c.164C>A	c.(163-165)cCa>cAa	p.P55Q		NM_152997.3	NP_694542.1	Q8NFU4	FDSCP_HUMAN	follicular dendritic cell secreted protein	55	Pro-rich.					extracellular region (GO:0005576)		p.P55Q(1)									CCACTTCCACCAATTCCATTT	0.408																																						uc003hfd.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(163-165)CCA>CAA		chromosome 4 open reading frame 7 precursor							189.0	190.0	190.0					4																	71099810		2203	4300	6503	SO:0001583	missense	260436					extracellular region		g.chr4:71099810C>A	AF435080	CCDS3537.1	4q13	2011-12-12	2011-12-12	2011-12-12	ENSG00000181617	ENSG00000181617			19215	protein-coding gene	gene with protein product		607241	"""chromosome 4 open reading frame 7"""	C4orf7		12193705, 17548624, 20811673	Standard	NM_152997		Approved	FDC-SP	uc003hfd.3	Q8NFU4	OTTHUMG00000129393	ENST00000317987.5:c.164C>A	4.37:g.71099810C>A	ENSP00000318437:p.Pro55Gln						p.P55Q	NM_152997	NP_694542	Q8NFU4	FDSCP_HUMAN			4	249	+			55			Pro-rich.			Missense_Mutation	SNP	ENST00000317987.5	37	c.164C>A	CCDS3537.1	.	.	.	.	.	.	.	.	.	.	C	8.107	0.777919	0.16120	.	.	ENSG00000181617	ENST00000317987	.	.	.	4.14	-3.55	0.04639	.	0.705996	0.12368	N	0.475073	T	0.25975	0.0633	.	.	.	0.09310	N	1	B	0.23937	0.094	B	0.23275	0.045	T	0.19647	-1.0299	8	0.87932	D	0	-0.3605	3.6236	0.08105	0.4806:0.2031:0.2364:0.0799	.	55	Q8NFU4	FDSCP_HUMAN	Q	55	.	ENSP00000318437:P55Q	P	+	2	0	C4orf7	71134399	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.001000	0.12947	-0.891000	0.03940	-2.225000	0.00294	CCA		PASS	0.408	FDCSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251549.1	NM_152997		64	164	64	164	---	---	---	---
SHROOM3	57619	broad.mit.edu	37	4	77662456	77662456	+	Nonsense_Mutation	SNP	A	A	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr4:77662456A>T	ENST00000296043.6	+	5	4083	c.3130A>T	c.(3130-3132)Aga>Tga	p.R1044*		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1044					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.R1043*(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)			GGGCCCGCAGAGAAATGGGAT	0.677																																						uc011cbx.1																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)	3						c.(3130-3132)AGA>TGA		shroom family member 3 protein							19.0	20.0	19.0					4																	77662456		2198	4296	6494	SO:0001587	stop_gained	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.chr4:77662456A>T	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.3130A>T	4.37:g.77662456A>T	ENSP00000296043:p.Arg1044*					SHROOM3_uc011cbz.1_Nonsense_Mutation_p.R868*|SHROOM3_uc003hkf.1_Nonsense_Mutation_p.R919*|SHROOM3_uc003hkg.2_Nonsense_Mutation_p.R822*	p.R1044*	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	4083	+			1044					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Nonsense_Mutation	SNP	ENST00000296043.6	37	c.3130A>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	A	45	11.922964	0.99617	.	.	ENSG00000138771	ENST00000296043	.	.	.	4.49	1.89	0.25635	.	0.459232	0.19965	N	0.102130	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.5872	11.0503	0.47882	0.7031:0.2969:0.0:0.0	.	.	.	.	X	1044	.	ENSP00000296043:R1044X	R	+	1	2	SHROOM3	77881480	1.000000	0.71417	0.001000	0.08648	0.014000	0.08584	5.295000	0.65692	0.101000	0.17610	0.379000	0.24179	AGA		PASS	0.677	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		15	26	15	26	---	---	---	---
SPARCL1	8404	broad.mit.edu	37	4	88414957	88414957	+	Missense_Mutation	SNP	G	G	C			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr4:88414957G>C	ENST00000282470.6	-	4	1465	c.995C>G	c.(994-996)cCc>cGc	p.P332R	SPARCL1_ENST00000503414.1_Missense_Mutation_p.P207R|SPARCL1_ENST00000418378.1_Missense_Mutation_p.P332R	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	332					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.P332R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		ATGATTTCTGGGCGTGGTATT	0.488																																						uc010ikm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(994-996)CCC>CGC		SPARC-like 1 precursor							191.0	159.0	170.0					4																	88414957		2203	4300	6503	SO:0001583	missense	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88414957G>C	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.995C>G	4.37:g.88414957G>C	ENSP00000282470:p.Pro332Arg					SPARCL1_uc011cdc.1_Missense_Mutation_p.P207R|SPARCL1_uc003hqs.3_Missense_Mutation_p.P332R|SPARCL1_uc011cdd.1_Missense_Mutation_p.P207R|SPARCL1_uc003hqt.2_Missense_Mutation_p.P332R	p.P332R	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	5	1567	-			332					B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	ENST00000282470.6	37	c.995C>G	CCDS3622.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.248786	0.22880	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	D;D;D	0.88741	-2.42;-2.42;-2.42	4.15	2.44	0.29823	.	1.386580	0.04348	N	0.355180	T	0.81408	0.4816	L	0.29908	0.895	0.09310	N	1	P;P	0.43169	0.8;0.8	B;B	0.35470	0.203;0.203	T	0.71310	-0.4631	10	0.39692	T	0.17	-1.2041	6.7692	0.23585	0.2107:0.0:0.7893:0.0	.	332;332	Q8N4S1;Q14515	.;SPRL1_HUMAN	R	332;332;207;207	ENSP00000282470:P332R;ENSP00000414856:P332R;ENSP00000422903:P207R	ENSP00000282470:P332R	P	-	2	0	SPARCL1	88633981	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	1.088000	0.30877	0.700000	0.31782	-0.812000	0.03155	CCC		PASS	0.488	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2			38	114	38	114	---	---	---	---
OSTC	58505	broad.mit.edu	37	4	109571833	109571833	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr4:109571833C>T	ENST00000361564.4	+	1	94	c.22C>T	c.(22-24)Ccg>Tcg	p.P8S	OSTC_ENST00000512478.2_Missense_Mutation_p.P8S|OSTC_ENST00000505745.1_3'UTR|RNU6-431P_ENST00000383874.1_RNA	NM_021227.3	NP_067050.1	Q9NRP0	OSTC_HUMAN	oligosaccharyltransferase complex subunit (non-catalytic)	8					protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|oligosaccharyltransferase complex (GO:0008250)		p.P8S(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						GTACCGTGTCCCGTTCTTAGT	0.597																																						uc003hzb.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(22-24)CCG>TCG		DC2 protein							73.0	72.0	72.0					4																	109571833		2203	4300	6503	SO:0001583	missense	58505					integral to membrane|oligosaccharyltransferase complex		g.chr4:109571833C>T	AF201937	CCDS3681.1, CCDS58921.1, CCDS75177.1	4q25	2013-03-06	2013-03-06		ENSG00000198856	ENSG00000198856			24448	protein-coding gene	gene with protein product	"""DC2 protein"""		"""oligosaccharyltransferase complex subunit"""			15835887	Standard	NM_021227		Approved	DC2	uc031sgt.1	Q9NRP0	OTTHUMG00000161031	ENST00000361564.4:c.22C>T	4.37:g.109571833C>T	ENSP00000354676:p.Pro8Ser						p.P8S	NM_021227	NP_067050	Q9NRP0	OSTC_HUMAN			1	93	+			8			Cytoplasmic (Potential).		A8MYS2|B2R5H1|D6RH22|Q9P075|Q9P1R4	Missense_Mutation	SNP	ENST00000361564.4	37	c.22C>T	CCDS3681.1	.	.	.	.	.	.	.	.	.	.	C	33	5.211786	0.95069	.	.	ENSG00000198856	ENST00000361564;ENST00000512478	T;T	0.78481	-1.18;-1.18	5.07	5.07	0.68467	.	0.063724	0.64402	U	0.000006	D	0.89121	0.6625	M	0.86953	2.85	0.80722	D	1	D	0.55800	0.973	D	0.64237	0.923	D	0.90089	0.4176	9	.	.	.	.	18.835	0.92159	0.0:1.0:0.0:0.0	.	8	Q9NRP0	OSTC_HUMAN	S	8	ENSP00000354676:P8S;ENSP00000426167:P8S	.	P	+	1	0	OSTC	109791282	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.216000	0.77974	2.519000	0.84933	0.655000	0.94253	CCG		PASS	0.597	OSTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363485.1	NM_021227		34	66	34	66	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114278280	114278280	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr4:114278280C>A	ENST00000357077.4	+	38	8559	c.8506C>A	c.(8506-8508)Caa>Aaa	p.Q2836K	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.Q2803K|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2836					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.Q2836K(1)		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)		AGAATCTCCACAAGCAGATTG	0.413																																						uc003ibe.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(8506-8508)CAA>AAA		ankyrin 2 isoform 1							114.0	113.0	113.0					4																	114278280		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.chr4:114278280C>A	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.8506C>A	4.37:g.114278280C>A	ENSP00000349588:p.Gln2836Lys					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.Q138K|ANK2_uc011cgb.1_Missense_Mutation_p.Q2851K	p.Q2836K	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	8606	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2803					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.8506C>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	0.705	-0.789161	0.02884	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.65549	-0.14;-0.16	5.61	4.68	0.58851	.	1.228710	0.05646	N	0.584249	T	0.54498	0.1862	L	0.42245	1.32	0.09310	N	0.999992	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.33214	-0.9877	9	.	.	.	.	7.5576	0.27833	0.2959:0.5672:0.1369:0.0	.	2803;2836	Q01484;Q01484-4	ANK2_HUMAN;.	K	2836;2803	ENSP00000349588:Q2836K;ENSP00000264366:Q2803K	.	Q	+	1	0	ANK2	114497729	0.000000	0.05858	0.064000	0.19789	0.049000	0.14656	-0.127000	0.10547	2.621000	0.88768	0.650000	0.86243	CAA		PASS	0.413	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		29	71	29	71	---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115997762	115997762	+	Nonsense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr4:115997762G>T	ENST00000264363.2	-	2	1109	c.431C>A	c.(430-432)tCa>tAa	p.S144*		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	144	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.S144*(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCGATTCCATGAGTCCATGCT	0.358																																						uc003ibu.2																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(1)	4						c.(430-432)TCA>TAA		heparan sulfate N-deacetylase/N-sulfotransferase							57.0	63.0	61.0					4																	115997762		2203	4300	6503	SO:0001587	stop_gained	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115997762G>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.431C>A	4.37:g.115997762G>T	ENSP00000264363:p.Ser144*					NDST4_uc010imw.2_Intron	p.S144*	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	1110	-		Ovarian(17;0.156)	144			Lumenal (Potential).|Heparan sulfate N-deacetylase 4.		Q2KHM8	Nonsense_Mutation	SNP	ENST00000264363.2	37	c.431C>A	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	43	10.488714	0.99414	.	.	ENSG00000138653	ENST00000264363	.	.	.	5.04	5.04	0.67666	.	0.183599	0.49305	D	0.000159	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.4091	0.90545	0.0:0.0:1.0:0.0	.	.	.	.	X	144	.	ENSP00000264363:S144X	S	-	2	0	NDST4	116217211	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	9.803000	0.99136	2.325000	0.78763	0.591000	0.81541	TCA		PASS	0.358	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		22	54	22	54	---	---	---	---
ARHGAP10	79658	broad.mit.edu	37	4	148743893	148743893	+	Missense_Mutation	SNP	A	A	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr4:148743893A>T	ENST00000336498.3	+	2	409	c.170A>T	c.(169-171)cAg>cTg	p.Q57L		NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.Q57L(1)		autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TCAGTGGCCCAGCGGAAGTTT	0.348																																						uc003ilf.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|pancreas(1)|lung(1)	4						c.(169-171)CAG>CTG		Rho GTPase activating protein 10							145.0	141.0	142.0					4																	148743893		2203	4300	6503	SO:0001583	missense	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148743893A>T	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.170A>T	4.37:g.148743893A>T	ENSP00000336923:p.Gln57Leu					ARHGAP10_uc003ile.1_Missense_Mutation_p.Q57L	p.Q57L	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	2	170	+	all_hematologic(180;0.151)	Renal(17;0.0166)	57			BAR.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	c.170A>T	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	A	12.59	1.984558	0.35036	.	.	ENSG00000071205	ENST00000336498	T	0.28255	1.62	6.06	4.86	0.63082	IRSp53/MIM homology domain (IMD) (1);	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	M	0.61703	1.905	0.80722	D	1	P	0.44816	0.844	B	0.36666	0.23	T	0.05903	-1.0857	10	0.40728	T	0.16	.	12.7468	0.57285	0.8769:0.0:0.0:0.1231	.	57	A1A4S6	RHG10_HUMAN	L	57	ENSP00000336923:Q57L	ENSP00000336923:Q57L	Q	+	2	0	ARHGAP10	148963343	1.000000	0.71417	0.720000	0.30636	0.005000	0.04900	7.912000	0.87465	1.090000	0.41315	0.528000	0.53228	CAG		PASS	0.348	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		17	65	17	65	---	---	---	---
SPOCK3	50859	broad.mit.edu	37	4	167833819	167833819	+	Silent	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr4:167833819G>T	ENST00000357154.3	-	6	572	c.435C>A	c.(433-435)gtC>gtA	p.V145V	SPOCK3_ENST00000510741.1_Silent_p.V142V|SPOCK3_ENST00000502330.1_Silent_p.V145V|SPOCK3_ENST00000511531.1_Silent_p.V145V|SPOCK3_ENST00000504953.1_Silent_p.V142V|SPOCK3_ENST00000421836.2_Silent_p.V94V|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000535728.1_Silent_p.V53V|SPOCK3_ENST00000357545.4_Silent_p.V142V|SPOCK3_ENST00000541354.1_Silent_p.V25V|SPOCK3_ENST00000534949.1_Silent_p.V49V|SPOCK3_ENST00000506886.1_Silent_p.V145V|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000511269.1_Silent_p.V142V|SPOCK3_ENST00000512648.1_Silent_p.V142V|SPOCK3_ENST00000512681.1_Intron	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	145	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)	p.V142V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		GGCTGGGATAGACCACTGGGC	0.428																																						uc003iri.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(433-435)GTC>GTA		testican 3 isoform 2							128.0	124.0	126.0					4																	167833819		2203	4300	6503	SO:0001819	synonymous_variant	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167833819G>T	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.435C>A	4.37:g.167833819G>T						SPOCK3_uc011cjp.1_Silent_p.V142V|SPOCK3_uc011cjq.1_Silent_p.V154V|SPOCK3_uc011cjr.1_Silent_p.V25V|SPOCK3_uc003irj.1_Silent_p.V142V|SPOCK3_uc011cjs.1_Silent_p.V94V|SPOCK3_uc011cjt.1_Silent_p.V53V|SPOCK3_uc011cju.1_Silent_p.V38V|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.3_Silent_p.V142V|SPOCK3_uc011cjw.1_Intron	p.V145V	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	6	576	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	145			Kazal-like.		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Silent	SNP	ENST00000357154.3	37	c.435C>A	CCDS54817.1																																																																																				PASS	0.428	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			11	48	11	48	---	---	---	---
ENPP6	133121	broad.mit.edu	37	4	185138911	185138911	+	Missense_Mutation	SNP	G	G	T	rs201609614		TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr4:185138911G>T	ENST00000296741.2	-	1	203	c.62C>A	c.(61-63)tCt>tAt	p.S21Y		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	21					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)	p.S21Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CCGGCGGGCAGAGGCTGGCTG	0.617																																						uc003iwc.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(61-63)TCT>TAT		ectonucleotide pyrophosphatase/phosphodiesterase																																				SO:0001583	missense	133121				lipid catabolic process	extracellular region|integral to membrane|plasma membrane		g.chr4:185138911G>T	AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.62C>A	4.37:g.185138911G>T	ENSP00000296741:p.Ser21Tyr						p.S21Y	NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)	1	204	-		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	21					Q4W5Q1|Q96M57	Missense_Mutation	SNP	ENST00000296741.2	37	c.62C>A	CCDS3834.1	.	.	.	.	.	.	.	.	.	.	G	5.057	0.196167	0.09599	.	.	ENSG00000164303	ENST00000296741	T	0.74737	-0.87	4.98	2.29	0.28610	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.965433	0.08640	N	0.915588	T	0.66268	0.2772	L	0.60067	1.865	0.19300	N	0.999973	B	0.26400	0.148	B	0.23852	0.049	T	0.50259	-0.8849	10	0.13108	T	0.6	-5.7365	7.3897	0.26903	0.2055:0.1321:0.6624:0.0	.	21	Q6UWR7	ENPP6_HUMAN	Y	21	ENSP00000296741:S21Y	ENSP00000296741:S21Y	S	-	2	0	ENPP6	185375905	0.240000	0.23847	0.020000	0.16555	0.059000	0.15707	1.148000	0.31614	0.783000	0.33636	-0.176000	0.13171	TCT		PASS	0.617	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343		11	30	11	30	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13911575	13911576	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr5:13911575_13911576CC>AA	ENST00000265104.4	-	12	1667_1668	c.1563_1564GG>TT	c.(1561-1566)aaGGaa>aaTTaa	p.521_522KE>N*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	521	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E522*(1)|p.K521N(1)|p.K521_E522>N*(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAATTGTATTCCTTTTTCTTTA	0.302									Kartagener syndrome																													uc003jfd.2																			3	Substitution - Nonsense(1)|Substitution - Missense(1)|Complex - compound substitution(1)		lung(3)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(1564-1566)GAA>TAA|c.(1561-1563)AAG>AAT		dynein, axonemal, heavy chain 5																																				SO:0001587	stop_gained	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13911575C>A|g.chr5:13911576C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1563_1564delinsAA	5.37:g.13911575_13911576delinsAA	ENSP00000265104:p.K521_E522delinsN*					DNAH5_uc003jfe.1_RNA	p.E522*|p.K521N	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			12	1606|1605	-	Lung NSC(4;0.00476)		522|521			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000265104.4	37	c.1564G>T|c.1563G>T	CCDS3882.1																																																																																				PASS	0.302	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		33	87|88	33	87	---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14336720	14336720	+	Missense_Mutation	SNP	G	G	C			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr5:14336720G>C	ENST00000344204.4	+	11	1954	c.1930G>C	c.(1930-1932)Gag>Cag	p.E644Q	TRIO_ENST00000537187.1_Missense_Mutation_p.E644Q|TRIO_ENST00000509967.2_Missense_Mutation_p.E595Q	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	644					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E644Q(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TGACCCCGAAGAGATTTATCA	0.493																																						uc003jff.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(1930-1932)GAG>CAG		triple functional domain (PTPRF interacting)							101.0	91.0	94.0					5																	14336720		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14336720G>C	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.1930G>C	5.37:g.14336720G>C	ENSP00000339299:p.Glu644Gln					TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.E595Q|TRIO_uc003jfh.1_Missense_Mutation_p.E293Q	p.E644Q	NM_007118	NP_009049	O75962	TRIO_HUMAN			11	1936	+	Lung NSC(4;0.000742)		644			Spectrin 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.1930G>C	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879406	0.72294	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.42131	0.98;0.98;0.98	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.60919	0.2306	L	0.49126	1.545	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.91635	0.984;0.999;0.995	T	0.59451	-0.7452	10	0.46703	T	0.11	.	18.9805	0.92754	0.0:0.0:1.0:0.0	.	595;644;644	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	Q	644;644;595;331	ENSP00000339299:E644Q;ENSP00000446348:E644Q;ENSP00000445592:E595Q	ENSP00000339299:E644Q	E	+	1	0	TRIO	14389720	1.000000	0.71417	0.990000	0.47175	0.963000	0.63663	9.869000	0.99810	2.471000	0.83476	0.650000	0.86243	GAG		PASS	0.493	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		10	93	10	93	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24509761	24509761	+	Silent	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr5:24509761C>A	ENST00000264463.4	-	7	1677	c.1170G>T	c.(1168-1170)ctG>ctT	p.L390L		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	390	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L390L(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GAACTTCAAACAGATAGGAGG	0.398										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(1168-1170)CTG>CTT		cadherin 10, type 2 preproprotein							103.0	103.0	103.0					5																	24509761		2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24509761C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1170G>T	5.37:g.24509761C>A		HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.L390L	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	7	1502	-			390			Cadherin 4.|Extracellular (Potential).		Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.1170G>T	CCDS3892.1																																																																																				PASS	0.398	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		13	56	13	56	---	---	---	---
PRLR	5618	broad.mit.edu	37	5	35065578	35065578	+	Silent	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr5:35065578C>A	ENST00000382002.5	-	10	1908	c.1482G>T	c.(1480-1482)ctG>ctT	p.L494L	PRLR_ENST00000542609.1_Intron|PRLR_ENST00000342362.5_Silent_p.L393L|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000511486.1_Silent_p.L393L|PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000513753.1_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	494					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)	p.L494L(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	TCTCCTGGGGCAGCAGCCAGG	0.493																																						uc003jjm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1480-1482)CTG>CTT		prolactin receptor precursor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						88.0	97.0	94.0					5																	35065578		2203	4300	6503	SO:0001819	synonymous_variant	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35065578C>A		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1482G>T	5.37:g.35065578C>A						PRLR_uc003jjg.1_Intron|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Silent_p.L393L	p.L494L	NM_000949	NP_000940	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		10	2012	-	all_lung(31;3.83e-05)		494			Cytoplasmic (Potential).		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Silent	SNP	ENST00000382002.5	37	c.1482G>T	CCDS3909.1																																																																																				PASS	0.493	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			23	141	23	141	---	---	---	---
FYB	2533	broad.mit.edu	37	5	39134313	39134313	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr5:39134313C>A	ENST00000351578.6	-	9	2004	c.1814G>T	c.(1813-1815)aGc>aTc	p.S605I	FYB_ENST00000505428.1_Missense_Mutation_p.S605I|FYB_ENST00000515010.1_Missense_Mutation_p.S605I|FYB_ENST00000540520.1_Missense_Mutation_p.S615I|FYB_ENST00000512982.1_Missense_Mutation_p.S605I	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	605					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.S605I(3)|p.S615I(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CACATACCTGCTAATATCATC	0.373																																						uc003jls.2																			4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(1813-1815)AGC>ATC		FYN binding protein (FYB-120/130) isoform 2							229.0	235.0	233.0					5																	39134313		1903	4139	6042	SO:0001583	missense	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39134313C>A	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1814G>T	5.37:g.39134313C>A	ENSP00000316460:p.Ser605Ile					FYB_uc003jlt.2_Missense_Mutation_p.S605I|FYB_uc003jlu.2_Missense_Mutation_p.S605I|FYB_uc011cpl.1_Missense_Mutation_p.S615I	p.S605I	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		8	1881	-	all_lung(31;0.000343)		605					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.1814G>T	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435551	0.25813	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77	5.93	0.256	0.15567	.	0.434701	0.26727	N	0.022811	T	0.21468	0.0517	M	0.70595	2.14	0.29841	N	0.829235	P;P	0.45902	0.868;0.868	B;B	0.37304	0.246;0.246	T	0.18335	-1.0340	10	0.62326	D	0.03	.	5.6766	0.17751	0.0:0.5018:0.2556:0.2426	.	615;605	B4DLN2;O15117	.;FYB_HUMAN	I	605;605;605;605;615;605	ENSP00000316460:S605I;ENSP00000426346:S605I;ENSP00000425845:S605I;ENSP00000427114:S605I;ENSP00000442840:S615I	ENSP00000316460:S605I	S	-	2	0	FYB	39170070	0.790000	0.28787	0.257000	0.24404	0.190000	0.23558	0.343000	0.19944	0.023000	0.15187	0.655000	0.94253	AGC		PASS	0.373	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		13	175	13	175	---	---	---	---
HTR1A	3350	broad.mit.edu	37	5	63256965	63256965	+	Silent	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr5:63256965G>T	ENST00000323865.3	-	1	815	c.582C>A	c.(580-582)ggC>ggA	p.G194G	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	194					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.G194G(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AGATAGTGTAGCCATGATCCT	0.582																																						uc011cqt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)	4						c.(580-582)GGC>GGA		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						127.0	141.0	136.0					5																	63256965		2203	4300	6503	SO:0001819	synonymous_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256965G>T	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.582C>A	5.37:g.63256965G>T							p.G194G	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	582	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	194			Helical; Name=5; (By similarity).		Q6LAE7	Silent	SNP	ENST00000323865.3	37	c.582C>A	CCDS34168.1																																																																																				PASS	0.582	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		52	165	52	165	---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79028312	79028312	+	Missense_Mutation	SNP	G	G	C			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr5:79028312G>C	ENST00000446378.2	+	2	3755	c.3724G>C	c.(3724-3726)Gtt>Ctt	p.V1242L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1242					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.V1242L(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAAATATTCAGTTTTGCCTGA	0.408																																						uc003kgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|pancreas(2)|lung(1)	9						c.(3724-3726)GTT>CTT		cardiomyopathy associated 5							35.0	35.0	35.0					5																	79028312		1870	4102	5972	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79028312G>C	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.3724G>C	5.37:g.79028312G>C	ENSP00000394770:p.Val1242Leu						p.V1242L	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	3796	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1242					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.3724G>C	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	7.378	0.628235	0.14257	.	.	ENSG00000164309	ENST00000446378	T	0.57907	0.37	5.81	2.03	0.26663	.	0.896639	0.09459	N	0.799339	T	0.44138	0.1279	M	0.62723	1.935	0.09310	N	0.999999	P	0.35844	0.524	B	0.28139	0.086	T	0.35773	-0.9775	10	0.54805	T	0.06	.	5.5056	0.16852	0.2982:0.141:0.5608:0.0	.	1242	Q8N3K9	CMYA5_HUMAN	L	1242	ENSP00000394770:V1242L	ENSP00000394770:V1242L	V	+	1	0	CMYA5	79064068	0.523000	0.26274	0.319000	0.25293	0.515000	0.34225	0.548000	0.23314	0.362000	0.24319	-0.137000	0.14449	GTT		PASS	0.408	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		3	20	3	20	---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79029057	79029058	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr5:79029057_79029058GG>CT	ENST00000446378.2	+	2	4500_4501	c.4469_4470GG>CT	c.(4468-4470)aGG>aCT	p.R1490T		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1490					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.R1490T(4)|p.R1490S(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAGGAAGCAAGGGTAGAAGACA	0.391																																						uc003kgc.2																			6	Substitution - Missense(6)		lung(6)	ovary(6)|pancreas(2)|lung(1)	9						c.(4468-4470)AGG>ACG|c.(4468-4470)AGG>AGT		cardiomyopathy associated 5																																				SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79029057G>C|g.chr5:79029058G>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	Exception_encountered	5.37:g.79029057_79029058delinsCT	ENSP00000394770:p.Arg1490Thr						p.R1490T|p.R1490S	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	4541|4542	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1490					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.4469G>C|c.4470G>T	CCDS47238.1																																																																																				PASS	0.391	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		27|28	138	27	138	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89925282	89925282	+	Missense_Mutation	SNP	A	A	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr5:89925282A>G	ENST00000405460.2	+	9	1861	c.1765A>G	c.(1765-1767)Aaa>Gaa	p.K589E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	589					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.K589E(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCAGAGCAAAAAACTCAAGT	0.358																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(1765-1767)AAA>GAA		G protein-coupled receptor 98 precursor							74.0	71.0	72.0					5																	89925282		1844	4087	5931	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89925282A>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.1765A>G	5.37:g.89925282A>G	ENSP00000384582:p.Lys589Glu					GPR98_uc003kjt.2_5'UTR	p.K589E	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	9	1861	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	589			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.1765A>G	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.63|10.63	1.403550|1.403550	0.25291|0.25291	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043|ENST00000504142	T|.	0.26810|.	1.71|.	5.52|5.52	4.36|4.36	0.52297|0.52297	.|.	0.323524|0.323524	0.37261|0.37261	N|N	0.002172|0.002172	T|T	0.35799|0.35799	0.0944|0.0944	L|L	0.38838|0.38838	1.175|1.175	0.22610|0.22610	N|N	0.998938|0.998938	B|.	0.27656|.	0.184|.	B|.	0.25506|.	0.061|.	T|T	0.18147|0.18147	-1.0346|-1.0346	10|6	0.11485|.	T|.	0.65|.	.|.	8.6297|8.6297	0.33911|0.33911	0.8525:0.0:0.1475:0.0|0.8525:0.0:0.1475:0.0	.|.	589|.	Q8WXG9|.	GPR98_HUMAN|.	E|R	589|177	ENSP00000384582:K589E|.	ENSP00000296619:K589E|.	K|K	+|+	1|2	0|0	GPR98|GPR98	89961038|89961038	0.005000|0.005000	0.15991|0.15991	0.355000|0.355000	0.25773|0.25773	0.908000|0.908000	0.53690|0.53690	2.084000|2.084000	0.41625|0.41625	0.936000|0.936000	0.37367|0.37367	-0.256000|-0.256000	0.11100|0.11100	AAA|AAA		PASS	0.358	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		27	73	27	73	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89953949	89953949	+	Nonsense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr5:89953949G>T	ENST00000405460.2	+	21	4702	c.4606G>T	c.(4606-4608)Gaa>Taa	p.E1536*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1536	Calx-beta 10. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.E1536*(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAATGACGAGGAAGGAGAAGA	0.348																																						uc003kju.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(4606-4608)GAA>TAA		G protein-coupled receptor 98 precursor							109.0	111.0	110.0					5																	89953949		1836	4087	5923	SO:0001587	stop_gained	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89953949G>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.4606G>T	5.37:g.89953949G>T	ENSP00000384582:p.Glu1536*					GPR98_uc003kjt.2_5'UTR	p.E1536*	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	21	4702	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1536			Calx-beta 10.|Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Nonsense_Mutation	SNP	ENST00000405460.2	37	c.4606G>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	44	10.661489	0.99445	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1823	0.98208	0.0:0.0:1.0:0.0	.	.	.	.	X	1536	.	ENSP00000296619:E1536X	E	+	1	0	GPR98	89989705	1.000000	0.71417	1.000000	0.80357	0.201000	0.24016	9.578000	0.98200	2.771000	0.95319	0.650000	0.86243	GAA		PASS	0.348	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		36	106	36	106	---	---	---	---
POU5F2	134187	broad.mit.edu	37	5	93077094	93077094	+	Missense_Mutation	SNP	T	T	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr5:93077094T>G	ENST00000510627.4	-	1	249	c.176A>C	c.(175-177)gAc>gCc	p.D59A	RP11-185E12.2_ENST00000606528.1_RNA|POU5F2_ENST00000606183.1_5'Flank|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000395965.3_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	59					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CCTCCACACGTCAGGGCCTGG	0.672																																						uc003kkl.1																			0					0						c.(175-177)GAC>GCC		POU domain class 5, transcription factor 2							17.0	20.0	19.0					5																	93077094		1928	4135	6063	SO:0001583	missense	134187					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:93077094T>G		CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"""Homeoboxes / POU class"""	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.176A>C	5.37:g.93077094T>G	ENSP00000464890:p.Asp59Ala					FAM172A_uc010jbd.2_Intron|FAM172A_uc011cuf.1_Intron|FAM172A_uc011cug.1_Intron|FAM172A_uc011cuh.1_Intron|FAM172A_uc011cui.1_Intron|FAM172A_uc011cuj.1_Intron	p.D59A	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)	1	216	-		all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	59					Q15169|Q6MZL7|Q8N748	Missense_Mutation	SNP	ENST00000510627.4	37	c.176A>C	CCDS59489.1																																																																																				PASS	0.672	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	NM_153216		9	23	9	23	---	---	---	---
PCDHA1	56147	broad.mit.edu	37	5	140167301	140167302	+	Missense_Mutation	DNP	AC	AC	TT			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr5:140167301_140167302AC>TT	ENST00000504120.2	+	1	1426_1427	c.1426_1427AC>TT	c.(1426-1428)ACg>TTg	p.T476L	PCDHA1_ENST00000394633.3_Missense_Mutation_p.T476L|PCDHA1_ENST00000378133.3_Missense_Mutation_p.T476L	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	476	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T476L(2)|p.T476M(2)|p.T476S(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACATCTTCACGGTGTCTGCG	0.653																																						uc003lhb.2																			6	Substitution - Missense(6)		lung(6)	skin(1)	1						c.(1426-1428)ACG>TCG|c.(1426-1428)ACG>ATG		protocadherin alpha 1 isoform 1 precursor																																				SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140167301A>T|g.chr5:140167302C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		Exception_encountered	5.37:g.140167301_140167302delinsTT	ENSP00000420840:p.Thr476Leu					PCDHA1_uc003lha.2_Missense_Mutation_p.T476S|PCDHA1_uc003lgz.2_Missense_Mutation_p.T476S|PCDHA1_uc003lha.2_Missense_Mutation_p.T476M|PCDHA1_uc003lgz.2_Missense_Mutation_p.T476M	p.T476S|p.T476M	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1426|1427	+			476			Cadherin 5.|Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1426A>T|c.1427C>T	CCDS54913.1																																																																																				PASS	0.653	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		31|32	68|67	31	67	---	---	---	---
PCDHA4	56144	broad.mit.edu	37	5	140186986	140186986	+	Missense_Mutation	SNP	G	G	A	rs3822351		TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr5:140186986G>A	ENST00000530339.1	+	1	214	c.214G>A	c.(214-216)Gga>Aga	p.G72R	PCDHA4_ENST00000512229.2_Missense_Mutation_p.G72R|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.G72R	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	72	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G72R(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGGGCCGCGGAGGCCTTCT	0.652																																						uc003lhi.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(214-216)GGA>AGA		protocadherin alpha 4 isoform 1 precursor							46.0	52.0	50.0					5																	140186986		1999	3871	5870	SO:0001583	missense	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140186986G>A	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.214G>A	5.37:g.140186986G>A	ENSP00000435300:p.Gly72Arg					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.G72R|PCDHA4_uc011daa.1_Missense_Mutation_p.G72R	p.G72R	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	315	+			72			Cadherin 1.|Extracellular (Potential).		O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.214G>A	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	g	4.669	0.124392	0.08931	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.25912	1.77;1.77;1.77	4.31	3.13	0.36017	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.909712	0.09020	U	0.860344	T	0.10380	0.0254	N	0.05280	-0.08	0.22412	N	0.999123	P;B;P	0.41643	0.758;0.188;0.506	B;B;B	0.37508	0.197;0.04;0.252	T	0.04386	-1.0955	10	0.15499	T	0.54	.	5.0234	0.14372	0.2225:0.2075:0.57:0.0	.	72;72;72	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	R	72	ENSP00000423470:G72R;ENSP00000349344:G72R;ENSP00000435300:G72R	ENSP00000349344:G72R	G	+	1	0	PCDHA4	140167170	0.000000	0.05858	0.971000	0.41717	0.850000	0.48378	0.051000	0.14141	2.126000	0.65437	0.461000	0.40582	GGA		PASS	0.652	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		60	143	60	143	---	---	---	---
PCDHB15	56121	broad.mit.edu	37	5	140625185	140625185	+	Missense_Mutation	SNP	A	A	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr5:140625185A>T	ENST00000231173.3	+	1	39	c.39A>T	c.(37-39)caA>caT	p.Q13H		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	13					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Q13H(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACAAAGGCAAGTCCTGATTC	0.527																																						uc003lje.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(1)	5						c.(37-39)CAA>CAT		protocadherin beta 15 precursor							63.0	69.0	67.0					5																	140625185		2203	4300	6503	SO:0001583	missense	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140625185A>T	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.39A>T	5.37:g.140625185A>T	ENSP00000231173:p.Gln13His						p.Q13H	NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	39	+			13					Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.39A>T	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	A	16.13	3.035213	0.54896	.	.	ENSG00000113248	ENST00000231173	T	0.51574	0.7	4.6	3.39	0.38822	.	.	.	.	.	T	0.68888	0.3050	M	0.87328	2.875	0.29438	N	0.859378	D	0.89917	1.0	D	0.77557	0.99	T	0.64266	-0.6448	9	0.72032	D	0.01	.	8.078	0.30729	0.8226:0.0:0.1774:0.0	.	13	Q9Y5E8	PCDBF_HUMAN	H	13	ENSP00000231173:Q13H	ENSP00000231173:Q13H	Q	+	3	2	PCDHB15	140605369	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	3.506000	0.53364	0.832000	0.34804	0.402000	0.26972	CAA		PASS	0.527	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		30	71	30	71	---	---	---	---
PCDHGA7	56108	broad.mit.edu	37	5	140762771	140762771	+	Missense_Mutation	SNP	G	G	T	rs372087170		TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr5:140762771G>T	ENST00000518325.1	+	1	305	c.305G>T	c.(304-306)tGt>tTt	p.C102F	PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	102	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C102F(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGCGCGGTGTCTGGTAAAC	0.483																																						uc003lka.1																			1	Substitution - Missense(1)		lung(1)		0						c.(304-306)TGT>TTT		protocadherin gamma subfamily A, 7 isoform 1							52.0	62.0	58.0					5																	140762771		2169	4283	6452	SO:0001583	missense	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140762771G>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.305G>T	5.37:g.140762771G>T	ENSP00000430024:p.Cys102Phe					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.C102F	p.C102F	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	305	+			102			Cadherin 1.|Extracellular (Potential).		B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.305G>T	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	15.25	2.777889	0.49786	.	.	ENSG00000253537	ENST00000518325	T	0.53206	0.63	5.01	5.01	0.66863	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.84624	0.5513	H	0.99909	4.93	0.47819	D	0.99952	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.92477	0.5990	9	0.87932	D	0	.	18.3124	0.90204	0.0:0.0:1.0:0.0	.	102;102	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	F	102	ENSP00000430024:C102F	ENSP00000430024:C102F	C	+	2	0	PCDHGA7	140742955	1.000000	0.71417	0.998000	0.56505	0.253000	0.25986	7.859000	0.86982	2.475000	0.83589	0.655000	0.94253	TGT		PASS	0.483	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		36	62	36	62	---	---	---	---
PCDHGB7	56099	broad.mit.edu	37	5	140798237	140798237	+	Nonsense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr5:140798237G>T	ENST00000398594.2	+	1	811	c.811G>T	c.(811-813)Gag>Tag	p.E271*	PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	271	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E271*(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACCAGGACGAGGGCATCAA	0.527																																						uc003lkn.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(811-813)GAG>TAG		protocadherin gamma subfamily B, 7 isoform 1							54.0	56.0	56.0					5																	140798237		2051	4198	6249	SO:0001587	stop_gained	56099				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140798237G>T	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.811G>T	5.37:g.140798237G>T	ENSP00000381594:p.Glu271*					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Nonsense_Mutation_p.E271*|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	p.E271*	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	956	+			271			Extracellular (Potential).|Cadherin 3.		Q9UN63	Nonsense_Mutation	SNP	ENST00000398594.2	37	c.811G>T	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	35	5.577496	0.96565	.	.	ENSG00000254122	ENST00000398594	.	.	.	5.7	5.7	0.88788	.	0.263272	0.19176	U	0.120805	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.0497	0.64727	0.0739:0.0:0.9261:0.0	.	.	.	.	X	271	.	ENSP00000381594:E271X	E	+	1	0	PCDHGB7	140778421	0.832000	0.29368	0.955000	0.39395	0.955000	0.61496	2.311000	0.43717	2.711000	0.92665	0.561000	0.74099	GAG		PASS	0.527	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		13	35	13	35	---	---	---	---
CANX	821	broad.mit.edu	37	5	179151779	179151779	+	Missense_Mutation	SNP	A	A	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr5:179151779A>T	ENST00000247461.4	+	13	1840	c.1640A>T	c.(1639-1641)aAa>aTa	p.K547I	CANX_ENST00000504734.1_Missense_Mutation_p.K547I|CANX_ENST00000512607.2_Missense_Mutation_p.K439I|CANX_ENST00000452673.2_Missense_Mutation_p.K547I|CANX_ENST00000415618.2_Missense_Mutation_p.K582I	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	547	Sufficient to mediate interaction with SGIP1. {ECO:0000250}.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)	p.K547I(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	ggagaagagAAACTTGGTAAG	0.428																																						uc003mkk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1639-1641)AAA>ATA		calnexin precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						98.0	101.0	100.0					5																	179151779		2203	4300	6503	SO:0001583	missense	821				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding	g.chr5:179151779A>T	L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"""major histocompatibility complex class I antigen-binding protein p88"""	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.1640A>T	5.37:g.179151779A>T	ENSP00000247461:p.Lys547Ile					CANX_uc011dgp.1_Missense_Mutation_p.K582I|CANX_uc003mkl.2_Missense_Mutation_p.K547I|CANX_uc011dgq.1_Missense_Mutation_p.K439I	p.K547I	NM_001746	NP_001737	P27824	CALX_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1817	+	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	547			Cytoplasmic (Potential).		B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	ENST00000247461.4	37	c.1640A>T	CCDS4447.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199623	0.38806	.	.	ENSG00000127022	ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000512607	T;T;T;T;T	0.54071	0.6;0.59;0.6;0.6;0.6	5.42	4.25	0.50352	.	0.554244	0.20142	N	0.098343	T	0.46833	0.1413	L	0.39898	1.24	0.38814	D	0.95548	P;B	0.37864	0.61;0.089	B;B	0.41988	0.372;0.017	T	0.41592	-0.9500	10	0.33940	T	0.23	-5.1895	11.0439	0.47846	0.9257:0.0:0.0743:0.0	.	582;547	B4DGP8;P27824	.;CALX_HUMAN	I	547;582;547;547;439	ENSP00000424063:K547I;ENSP00000394817:K582I;ENSP00000391646:K547I;ENSP00000247461:K547I;ENSP00000423588:K439I	ENSP00000247461:K547I	K	+	2	0	CANX	179084385	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	3.480000	0.53172	0.991000	0.38814	0.528000	0.53228	AAA		PASS	0.428	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649		3	6	3	6	---	---	---	---
NUP153	9972	broad.mit.edu	37	6	17661915	17661915	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr6:17661915C>A	ENST00000262077.2	-	11	1363	c.1364G>T	c.(1363-1365)cGc>cTc	p.R455L	NUP153_ENST00000537253.1_Missense_Mutation_p.R455L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	455				TR -> HA (in Ref. 1; CAA80982). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.R455L(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			AGCAACAAAGCGTGTTCTTTC	0.453																																						uc003ncd.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|breast(2)|skin(1)	9						c.(1363-1365)CGC>CTC		nucleoporin 153kDa							146.0	142.0	143.0					6																	17661915		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17661915C>A	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.1364G>T	6.37:g.17661915C>A	ENSP00000262077:p.Arg455Leu					NUP153_uc011dje.1_Missense_Mutation_p.R455L|NUP153_uc010jpl.1_Missense_Mutation_p.R455L	p.R455L	NM_005124	NP_005115	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		11	1564	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	455	TR -> HA (in Ref. 1; CAA80982).				B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.1364G>T	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	C	7.781	0.709453	0.15239	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.31510	1.49;1.49	5.62	0.765	0.18470	Nucleoporin, Nup153-like (1);	0.246803	0.28933	N	0.013677	T	0.07143	0.0181	L	0.44542	1.39	0.09310	N	1	P;B;B	0.41102	0.738;0.381;0.336	B;B;B	0.36666	0.194;0.207;0.23	T	0.30966	-0.9960	10	0.23891	T	0.37	3.1057	4.8663	0.13609	0.178:0.4668:0.0:0.3552	.	455;477;455	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	L	455;477;455	ENSP00000262077:R455L;ENSP00000444029:R455L	ENSP00000262077:R455L	R	-	2	0	NUP153	17769894	0.767000	0.28508	0.001000	0.08648	0.885000	0.51271	0.363000	0.20301	-0.076000	0.12775	0.655000	0.94253	CGC		PASS	0.453	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			33	126	33	126	---	---	---	---
TRIM38	10475	broad.mit.edu	37	6	25973469	25973469	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr6:25973469C>T	ENST00000357085.3	+	7	1306	c.830C>T	c.(829-831)tCc>tTc	p.S277F	TRIM38_ENST00000349458.3_Missense_Mutation_p.S277F	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	277	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of defense response to virus (GO:0050687)|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)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.S277F(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						TGCAATGTTTCCAAGCTTTAC	0.418																																						uc003nfm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(829-831)TCC>TTC		tripartite motif-containing 38							116.0	112.0	113.0					6																	25973469		2203	4300	6503	SO:0001583	missense	10475				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	g.chr6:25973469C>T	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.830C>T	6.37:g.25973469C>T	ENSP00000349596:p.Ser277Phe					TRIM38_uc003nfn.2_Missense_Mutation_p.S259F|TRIM38_uc010jqd.2_5'UTR	p.S277F	NM_006355	NP_006346	O00635	TRI38_HUMAN			7	1265	+			277			B30.2/SPRY.		B2R862	Missense_Mutation	SNP	ENST00000357085.3	37	c.830C>T	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	c	13.23	2.174975	0.38413	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.05199	3.48;3.48;3.48	4.2	4.2	0.49525	B30.2/SPRY domain (1);	0.807984	0.10790	N	0.633819	T	0.08447	0.0210	L	0.50333	1.59	0.33972	D	0.646949	D;D	0.55385	0.971;0.971	P;P	0.54401	0.751;0.751	T	0.03423	-1.1038	10	0.87932	D	0	.	12.3324	0.55048	0.0:1.0:0.0:0.0	.	277;277	B2R862;O00635	.;TRI38_HUMAN	F	277	ENSP00000443976:S277F;ENSP00000230099:S277F;ENSP00000349596:S277F	ENSP00000230099:S277F	S	+	2	0	TRIM38	26081448	0.703000	0.27826	0.760000	0.31359	0.091000	0.18340	2.210000	0.42816	2.616000	0.88540	0.591000	0.81541	TCC		PASS	0.418	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2			11	31	11	31	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32047066	32047066	+	Silent	SNP	C	C	A	rs369139181	byFrequency	TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr6:32047066C>A	ENST00000375244.3	-	11	4320	c.4119G>T	c.(4117-4119)ccG>ccT	p.P1373P	TNXB_ENST00000375247.2_Silent_p.P1373P|RNA5SP206_ENST00000516703.1_RNA			P22105	TENX_HUMAN	tenascin XB	1460	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.P1373P(1)|p.P1460P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCCCAGGAGCGGCTCCTCGG	0.627																																						uc003nzl.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(4117-4119)CCG>CCT		tenascin XB isoform 1 precursor							56.0	63.0	60.0					6																	32047066		1182	2501	3683	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32047066C>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4119G>T	6.37:g.32047066C>A							p.P1373P	NM_019105	NP_061978	P22105	TENX_HUMAN			11	4321	-			1460			Fibronectin type-III 7.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.4119G>T																																																																																					PASS	0.627	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		23	64	23	64	---	---	---	---
PPT2	9374	broad.mit.edu	37	6	32122917	32122917	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr6:32122917G>A	ENST00000324816.6	+	3	862	c.294G>A	c.(292-294)atG>atA	p.M98I	PPT2_ENST00000361568.2_Missense_Mutation_p.M104I|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000375143.2_Missense_Mutation_p.M98I|PPT2_ENST00000445576.2_Missense_Mutation_p.M98I|PPT2_ENST00000395523.1_Missense_Mutation_p.M98I|PPT2-EGFL8_ENST00000422437.1_Missense_Mutation_p.M98I|PPT2_ENST00000375137.2_Missense_Mutation_p.M98I|PPT2_ENST00000437001.2_Intron|PPT2-EGFL8_ENST00000453656.2_3'UTR|PRRT1_ENST00000375150.2_5'Flank			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	98					cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)	p.M104I(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						TCCCCATCATGGCAAAGGCCC	0.582																																						uc003nzx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(292-294)ATG>ATA		palmitoyl-protein thioesterase 2 isoform a							95.0	81.0	86.0					6																	32122917		1510	2709	4219	SO:0001583	missense	9374				protein modification process	lysosome	palmitoyl-(protein) hydrolase activity	g.chr6:32122917G>A	AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.294G>A	6.37:g.32122917G>A	ENSP00000320528:p.Met98Ile					PRRT1_uc003nzu.2_5'Flank|uc003nzv.3_5'Flank|PPT2_uc003nzw.2_Missense_Mutation_p.M104I|PPT2_uc011dpi.1_Intron|PPT2_uc003nzy.1_RNA|PPT2_uc003nzz.2_Missense_Mutation_p.M98I|PPT2_uc003oaa.2_Missense_Mutation_p.M98I|PPT2_uc010jtu.1_Missense_Mutation_p.M98I	p.M98I	NM_005155	NP_005146	Q9UMR5	PPT2_HUMAN			3	862	+			98					A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Missense_Mutation	SNP	ENST00000324816.6	37	c.294G>A	CCDS4742.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231666	0.79688	.	.	ENSG00000221988	ENST00000414204;ENST00000361568;ENST00000395523;ENST00000445576;ENST00000324816;ENST00000375137;ENST00000375143;ENST00000436118	D;D;D;D;D;D;D	0.95821	-3.29;-3.82;-3.82;-3.82;-3.82;-3.82;-3.82	4.86	4.86	0.63082	.	0.106321	0.85682	D	0.000000	D	0.91243	0.7240	L	0.48362	1.52	0.80722	D	1	B;P;P	0.35468	0.254;0.503;0.503	B;B;B	0.40982	0.234;0.345;0.345	D	0.89940	0.4072	10	0.19147	T	0.46	0.3092	15.5138	0.75806	0.0:0.0:1.0:0.0	.	98;98;104	Q9UMR5-2;Q9UMR5;B0S872	.;PPT2_HUMAN;.	I	98;104;98;98;98;98;98;98	ENSP00000398847:M98I;ENSP00000354608:M104I;ENSP00000378894:M98I;ENSP00000412381:M98I;ENSP00000320528:M98I;ENSP00000364279:M98I;ENSP00000364285:M98I	ENSP00000320528:M98I	M	+	3	0	PPT2	32230895	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.741000	0.74837	2.519000	0.84933	0.484000	0.47621	ATG		PASS	0.582	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076552.4	NM_138717		7	64	7	64	---	---	---	---
LRFN2	57497	broad.mit.edu	37	6	40399870	40399870	+	Missense_Mutation	SNP	C	C	T	rs371674528	byFrequency	TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr6:40399870C>T	ENST00000338305.6	-	2	1525	c.983G>A	c.(982-984)cGc>cAc	p.R328H		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	328	Ig-like.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.R328H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCTACCAGGCGGTCATCGGG	0.582													C|||	2	0.000399361	0.0	0.0	5008	,	,		16713	0.0		0.0	False		,,,				2504	0.002					uc003oph.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(982-984)CGC>CAC		leucine rich repeat and fibronectin type III		C	HIS/ARG	0,4404		0,0,2202	47.0	42.0	44.0		983	3.7	1.0	6		44	1,8595		0,1,4297	no	missense	LRFN2	NM_020737.1	29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	328/790	40399870	1,12999	2202	4298	6500	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40399870C>T	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.983G>A	6.37:g.40399870C>T	ENSP00000345985:p.Arg328His						p.R328H	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			2	1448	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		328			Extracellular (Potential).|Ig-like.		A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.983G>A	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208413	0.58343	0.0	1.16E-4	ENSG00000156564	ENST00000338305	T	0.67523	-0.27	5.43	3.66	0.41972	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.147569	0.64402	N	0.000020	T	0.68357	0.2992	M	0.68317	2.08	0.58432	D	0.999994	D	0.69078	0.997	D	0.68765	0.96	T	0.67945	-0.5539	10	0.36615	T	0.2	.	10.5603	0.45142	0.0:0.8424:0.0:0.1576	.	328	Q9ULH4	LRFN2_HUMAN	H	328	ENSP00000345985:R328H	ENSP00000345985:R328H	R	-	2	0	LRFN2	40507848	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.746000	0.47467	0.680000	0.31366	-0.136000	0.14681	CGC		PASS	0.582	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		10	62	10	62	---	---	---	---
CRISP2	7180	broad.mit.edu	37	6	49676896	49676896	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr6:49676896G>A	ENST00000339139.4	-	4	250	c.14C>T	c.(13-15)cCg>cTg	p.P5L		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	5					single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)		p.P5L(1)		kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AAACAACACCGGTAGTAAAGC	0.373																																						uc003ozq.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(13-15)CCG>CTG		cysteine-rich secretory protein 2 precursor							91.0	89.0	90.0					6																	49676896		2203	4300	6503	SO:0001583	missense	7180					extracellular space		g.chr6:49676896G>A	X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"""cancer/testis antigen 36"""	187430	"""testis specific protein 1 (probe H4-1 p3-1)"""	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.14C>T	6.37:g.49676896G>A	ENSP00000339155:p.Pro5Leu					CRISP2_uc003ozl.2_Missense_Mutation_p.P5L|CRISP2_uc003ozn.2_Missense_Mutation_p.P5L|CRISP2_uc003ozr.2_Missense_Mutation_p.P5L|CRISP2_uc003ozo.2_Missense_Mutation_p.P5L|CRISP2_uc003ozm.2_Missense_Mutation_p.P5L|CRISP2_uc003ozp.2_Missense_Mutation_p.P5L	p.P5L	NM_001142408	NP_001135880	P16562	CRIS2_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		4	270	-	Lung NSC(77;0.0161)		5					A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Missense_Mutation	SNP	ENST00000339139.4	37	c.14C>T	CCDS4928.1	.	.	.	.	.	.	.	.	.	.	G	5.680	0.310079	0.10733	.	.	ENSG00000124490	ENST00000339139;ENST00000211238	T	0.07216	3.21	4.91	3.05	0.35203	.	0.801371	0.11687	N	0.539271	T	0.03959	0.0111	L	0.55743	1.74	0.09310	N	1	D;D	0.61080	0.989;0.968	P;B	0.46543	0.52;0.312	T	0.38394	-0.9663	10	0.23302	T	0.38	.	7.6382	0.28277	0.0:0.1879:0.6259:0.1863	.	5;5	Q7Z7B2;P16562	.;CRIS2_HUMAN	L	5	ENSP00000339155:P5L	ENSP00000211238:P5L	P	-	2	0	CRISP2	49784855	0.144000	0.22641	0.010000	0.14722	0.304000	0.27724	0.373000	0.20484	0.712000	0.32039	0.650000	0.86243	CCG		PASS	0.373	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040870.2	NM_003296		6	77	6	77	---	---	---	---
COL9A1	1297	broad.mit.edu	37	6	70964204	70964204	+	Missense_Mutation	SNP	C	C	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr6:70964204C>G	ENST00000357250.6	-	25	1852	c.1694G>C	c.(1693-1695)gGt>gCt	p.G565A	COL9A1_ENST00000320755.7_Missense_Mutation_p.G322A|COL9A1_ENST00000370499.4_Missense_Mutation_p.G322A|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	565	Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.G565A(1)|p.G322A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCCTGCATCACCAGGAGGCCC	0.388																																						uc003pfg.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1693-1695)GGT>GCT		alpha 1 type IX collagen isoform 1 precursor							73.0	69.0	70.0					6																	70964204		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70964204C>G		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1694G>C	6.37:g.70964204C>G	ENSP00000349790:p.Gly565Ala					COL9A1_uc003pfe.3_Missense_Mutation_p.G138A|COL9A1_uc003pff.3_Missense_Mutation_p.G322A	p.G565A	NM_001851	NP_001842	P20849	CO9A1_HUMAN			25	1853	-			565			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.1694G>C	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409095	0.62399	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.99607	-6.27;-6.27;-6.27	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.99816	0.9919	H	0.96239	3.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.97192	0.9858	10	0.87932	D	0	.	18.2813	0.90099	0.0:1.0:0.0:0.0	.	565;322;138	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	A	565;322;322	ENSP00000349790:G565A;ENSP00000315252:G322A;ENSP00000359530:G322A	ENSP00000315252:G322A	G	-	2	0	COL9A1	71020925	1.000000	0.71417	0.977000	0.42913	0.927000	0.56198	6.026000	0.70873	2.748000	0.94277	0.591000	0.81541	GGT		PASS	0.388	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			9	84	9	84	---	---	---	---
FILIP1	27145	broad.mit.edu	37	6	76022257	76022257	+	Silent	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr6:76022257C>T	ENST00000237172.7	-	5	3621	c.3291G>A	c.(3289-3291)gtG>gtA	p.V1097V	FILIP1_ENST00000393004.2_Silent_p.V1097V|FILIP1_ENST00000370020.1_Silent_p.V998V|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1097								p.V1097V(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTTCGGCTGTCACGTTTACTG	0.507																																						uc003pia.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)	4						c.(3289-3291)GTG>GTA		filamin A interacting protein 1							209.0	158.0	175.0					6																	76022257		2203	4300	6503	SO:0001819	synonymous_variant	27145							g.chr6:76022257C>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3291G>A	6.37:g.76022257C>T						FILIP1_uc003phy.1_Silent_p.V1097V|FILIP1_uc003phz.2_Silent_p.V998V|FILIP1_uc010kbe.2_Silent_p.V1100V|FILIP1_uc003pib.1_Silent_p.V849V	p.V1097V	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			5	3664	-			1097					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Silent	SNP	ENST00000237172.7	37	c.3291G>A	CCDS4984.1																																																																																				PASS	0.507	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		22	131	22	131	---	---	---	---
HTR1E	3354	broad.mit.edu	37	6	87726078	87726078	+	Silent	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr6:87726078G>T	ENST00000305344.5	+	2	1729	c.1026G>T	c.(1024-1026)ctG>ctT	p.L342L		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	342					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.L342L(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TCAACCCTCTGCTCTATACGA	0.433																																						uc003pli.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1024-1026)CTG>CTT		5-hydroxytryptamine (serotonin) receptor 1E	Eletriptan(DB00216)						98.0	105.0	103.0					6																	87726078		2203	4300	6503	SO:0001819	synonymous_variant	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87726078G>T		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.1026G>T	6.37:g.87726078G>T							p.L342L	NM_000865	NP_000856	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1729	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	342			Helical; Name=7; (By similarity).		E1P503|Q9P1Y1	Silent	SNP	ENST00000305344.5	37	c.1026G>T	CCDS5006.1																																																																																				PASS	0.433	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		15	160	15	160	---	---	---	---
CDK19	23097	broad.mit.edu	37	6	110935789	110935789	+	Silent	SNP	C	C	A	rs370278585		TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr6:110935789C>A	ENST00000368911.3	-	13	1637	c.1458G>T	c.(1456-1458)tcG>tcT	p.S486S	CDK19_ENST00000323817.3_Silent_p.S426S|CDK19_ENST00000413605.2_Silent_p.S362S	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	486	Ser-rich.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.S486S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						TCTGCTGAGACGAGGAAGAGT	0.592																																						uc003puh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1456-1458)TCG>TCT		cell division cycle 2-like 6 (CDK8-like)							144.0	124.0	130.0					6																	110935789		2203	4300	6503	SO:0001819	synonymous_variant	23097						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr6:110935789C>A	AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.1458G>T	6.37:g.110935789C>A						CDK19_uc003pui.1_Silent_p.S426S|CDK19_uc011eax.1_Silent_p.S362S	p.S486S	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN			13	1531	-			486			Ser-rich.		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Silent	SNP	ENST00000368911.3	37	c.1458G>T	CCDS5085.1																																																																																				PASS	0.592	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076		25	62	25	62	---	---	---	---
DCBLD1	285761	broad.mit.edu	37	6	117859846	117859846	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr6:117859846C>T	ENST00000338728.5	+	8	944	c.824C>T	c.(823-825)tCg>tTg	p.S275L	DCBLD1_ENST00000296955.8_Missense_Mutation_p.S275L|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000368503.4_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	275	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.S275L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TCATGGCAGTCGGTCAATGAG	0.502																																						uc003pxs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(823-825)TCG>TTG		discoidin, CUB and LCCL domain containing 1							81.0	81.0	81.0					6																	117859846		2203	4300	6503	SO:0001583	missense	285761				cell adhesion	integral to membrane		g.chr6:117859846C>T	AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.824C>T	6.37:g.117859846C>T	ENSP00000342422:p.Ser275Leu					GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Missense_Mutation_p.S275L|DCBLD1_uc003pxt.1_5'Flank	p.S275L	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)	8	949	+		all_cancers(87;0.171)	275			F5/8 type C.|Extracellular (Potential).		Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Missense_Mutation	SNP	ENST00000338728.5	37	c.824C>T		.	.	.	.	.	.	.	.	.	.	C	13.31	2.198860	0.38806	.	.	ENSG00000164465	ENST00000296955;ENST00000338728	D;D	0.98280	-4.84;-4.84	4.06	3.19	0.36642	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.891310	0.09740	N	0.761929	D	0.89636	0.6772	N	0.12182	0.205	0.80722	D	1	B;B	0.33073	0.184;0.396	B;B	0.29524	0.103;0.065	D	0.86277	0.1665	10	0.49607	T	0.09	-1.1927	5.7985	0.18399	0.1442:0.2102:0.6456:0.0	.	275;275	Q8N8Z6-2;Q8N8Z6	.;DCBD1_HUMAN	L	275	ENSP00000296955:S275L;ENSP00000342422:S275L	ENSP00000296955:S275L	S	+	2	0	DCBLD1	117966539	1.000000	0.71417	0.717000	0.30585	0.877000	0.50540	3.145000	0.50623	0.916000	0.36871	-0.502000	0.04539	TCG		PASS	0.502	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674		21	135	21	135	---	---	---	---
L3MBTL3	84456	broad.mit.edu	37	6	130378581	130378581	+	Missense_Mutation	SNP	G	G	C			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr6:130378581G>C	ENST00000529410.1	+	11	1177	c.698G>C	c.(697-699)tGc>tCc	p.C233S	L3MBTL3_ENST00000368139.2_Missense_Mutation_p.C208S|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.C233S|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.C208S|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.C233S|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.C208S			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	233					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.C233S(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AAAGCGTGGTGCTGGGCATCC	0.527																																						uc003qbt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(697-699)TGC>TCC		l(3)mbt-like 3 isoform a							74.0	69.0	71.0					6																	130378581		2203	4300	6503	SO:0001583	missense	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130378581G>C	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.698G>C	6.37:g.130378581G>C	ENSP00000431962:p.Cys233Ser					L3MBTL3_uc003qbu.2_Missense_Mutation_p.C208S	p.C233S	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	9	868	+			233			MBT 1.		Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	c.698G>C	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	G	2.969	-0.212934	0.06140	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76;-0.76	5.2	5.2	0.72013	.	0.140190	0.64402	D	0.000003	T	0.25754	0.0627	N	0.02539	-0.55	0.41707	D	0.989434	B;B	0.13145	0.007;0.0	B;B	0.08055	0.003;0.0	T	0.35500	-0.9786	10	0.02654	T	1	.	12.4668	0.55764	0.0774:0.0:0.9226:0.0	.	208;233	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	S	233;208;233;208;208;233	ENSP00000431962:C233S;ENSP00000437185:C208S;ENSP00000354526:C233S;ENSP00000357121:C208S;ENSP00000436706:C208S;ENSP00000357118:C233S	ENSP00000354526:C233S	C	+	2	0	L3MBTL3	130420274	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	4.410000	0.59774	2.578000	0.87016	0.551000	0.68910	TGC		PASS	0.527	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		7	26	7	26	---	---	---	---
SNX9	51429	broad.mit.edu	37	6	158318005	158318005	+	Silent	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr6:158318005C>A	ENST00000392185.3	+	5	618	c.447C>A	c.(445-447)ggC>ggA	p.G149G		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	149					cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)	p.G149G(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CTGCCTTCGGCCACCCCCAGG	0.627																																						uc003qqv.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(445-447)GGC>GGA		sorting nexin 9							40.0	45.0	43.0					6																	158318005		2203	4300	6503	SO:0001819	synonymous_variant	51429				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	g.chr6:158318005C>A	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"""Sorting nexins"""	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.447C>A	6.37:g.158318005C>A							p.G149G	NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	5	620	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	149					Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Silent	SNP	ENST00000392185.3	37	c.447C>A	CCDS5253.1																																																																																				PASS	0.627	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1			18	44	18	44	---	---	---	---
LPA	4018	broad.mit.edu	37	6	160998175	160998175	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr6:160998175G>T	ENST00000316300.5	-	28	4668	c.4624C>A	c.(4624-4626)Cca>Aca	p.P1542T	LPA_ENST00000447678.1_Missense_Mutation_p.P1542T			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4050	Kringle 14. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.P1542T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TACGCATTTGGGTAGTTTTCT	0.438																																						uc003qtl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)	6						c.(4624-4626)CCA>ACA		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						176.0	183.0	181.0					6																	160998175		2140	4288	6428	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160998175G>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4624C>A	6.37:g.160998175G>T	ENSP00000321334:p.Pro1542Thr						p.P1542T	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	29	4744	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4050			Kringle 36.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.4624C>A	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	12.18	1.860890	0.32884	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.65549	-0.16;-0.16	2.55	2.55	0.30701	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.73497	0.3594	M	0.90019	3.08	0.44816	D	0.997823	P	0.43662	0.814	D	0.67231	0.95	T	0.73827	-0.3860	9	0.38643	T	0.18	.	8.5946	0.33707	0.0:0.0:1.0:0.0	.	4050	P08519	APOA_HUMAN	T	1542	ENSP00000321334:P1542T;ENSP00000395608:P1542T	ENSP00000321334:P1542T	P	-	1	0	LPA	160918165	1.000000	0.71417	0.882000	0.34594	0.326000	0.28443	6.524000	0.73791	1.410000	0.46936	0.430000	0.28490	CCA		PASS	0.438	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		50	168	50	168	---	---	---	---
IQCE	23288	broad.mit.edu	37	7	2606780	2606780	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr7:2606780G>A	ENST00000402050.2	+	2	251	c.67G>A	c.(67-69)Gac>Aac	p.D23N	IQCE_ENST00000404984.1_Intron|IQCE_ENST00000325979.7_Intron|IQCE_ENST00000438376.2_Intron	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	23						mitochondrion (GO:0005739)		p.D23N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		AGTCACCTTTGACTCTGATGT	0.572																																						uc003smo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(67-69)GAC>AAC		IQ motif containing E isoform 1							76.0	81.0	79.0					7																	2606780		2146	4257	6403	SO:0001583	missense	23288							g.chr7:2606780G>A	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.67G>A	7.37:g.2606780G>A	ENSP00000385597:p.Asp23Asn					IQCE_uc010ksm.1_Missense_Mutation_p.D23N|IQCE_uc003sml.1_Missense_Mutation_p.D23N|IQCE_uc011jvy.1_Intron|IQCE_uc011jvz.1_Intron|IQCE_uc003smk.3_Intron|IQCE_uc003smn.3_Intron	p.D23N	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	2	251	+		Ovarian(82;0.0112)	23					Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Missense_Mutation	SNP	ENST00000402050.2	37	c.67G>A	CCDS43542.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764737	0.90020	.	.	ENSG00000106012	ENST00000402050;ENST00000415271	T;T	0.06849	3.25;3.25	4.72	4.72	0.59763	.	0.266080	0.29100	N	0.013153	T	0.19446	0.0467	L	0.54323	1.7	0.80722	D	1	D;D	0.71674	0.998;0.995	P;P	0.57425	0.82;0.797	T	0.00220	-1.1906	10	0.52906	T	0.07	-19.0512	14.7101	0.69225	0.0:0.0:1.0:0.0	.	23;23	Q6IPM2;B3KRY4	IQCE_HUMAN;.	N	23	ENSP00000385597:D23N;ENSP00000404643:D23N	ENSP00000385597:D23N	D	+	1	0	IQCE	2573306	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.142000	0.64820	2.437000	0.82529	0.655000	0.94253	GAC		PASS	0.572	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		3	46	3	46	---	---	---	---
OCM	654231	broad.mit.edu	37	7	5920533	5920533	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr7:5920533G>A	ENST00000242104.5	+	1	105	c.13G>A	c.(13-15)Gac>Aac	p.D5N	OCM_ENST00000416608.1_Missense_Mutation_p.D5N	NM_001097622.1	NP_001091091.1	P0CE72	ONCO_HUMAN	oncomodulin	5							calcium ion binding (GO:0005509)	p.D5N(1)		endometrium(1)|large_intestine(3)|lung(2)	6		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)		GAGCATCACGGACGTGCTCAG	0.547																																						uc003spe.3																			1	Substitution - Missense(1)		lung(1)		0						c.(13-15)GAC>AAC		oncomodulin							117.0	104.0	109.0					7																	5920533		2203	4300	6503	SO:0001583	missense	654231						calcium ion binding	g.chr7:5920533G>A	BC069468	CCDS43548.1	7p22.1	2013-01-10						"""EF-hand domain containing"""	8105	protein-coding gene	gene with protein product	"""oncomodulin 1"""	164795				1559707, 8354278	Standard	NM_001097622		Approved	OCM1	uc003spe.4	P0CE72		ENST00000242104.5:c.13G>A	7.37:g.5920533G>A	ENSP00000242104:p.Asp5Asn						p.D5N	NM_001097622	NP_001091091	P0CE72	ONCO_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)	1	105	+		Ovarian(82;0.0694)	5					B9EJH7|P32930|Q6ISI5|Q75MW0	Missense_Mutation	SNP	ENST00000242104.5	37	c.13G>A	CCDS43548.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.566261	0.45694	.	.	ENSG00000122543	ENST00000416608;ENST00000242104	T;T	0.77489	-1.1;-1.1	4.17	4.17	0.49024	.	0.124398	0.56097	D	0.000037	T	0.73552	0.3601	M	0.69358	2.11	0.38099	D	0.937209	B	0.33413	0.411	B	0.27170	0.077	T	0.77940	-0.2399	10	0.45353	T	0.12	-23.284	14.3494	0.66691	0.0:0.0:1.0:0.0	.	5	P0CE72	ONCO_HUMAN	N	5	ENSP00000401365:D5N;ENSP00000242104:D5N	ENSP00000242104:D5N	D	+	1	0	OCM	5887059	1.000000	0.71417	0.742000	0.31022	0.930000	0.56654	5.771000	0.68881	2.046000	0.60703	0.502000	0.49764	GAC		PASS	0.547	OCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340372.1	NM_001097622		15	86	15	86	---	---	---	---
GPNMB	10457	broad.mit.edu	37	7	23299746	23299746	+	Missense_Mutation	SNP	A	A	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr7:23299746A>T	ENST00000381990.2	+	5	850	c.689A>T	c.(688-690)tAc>tTc	p.Y230F	GPNMB_ENST00000539136.1_Missense_Mutation_p.Y131F|GPNMB_ENST00000453162.2_Missense_Mutation_p.Y172F|GPNMB_ENST00000258733.4_Missense_Mutation_p.Y230F	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	230					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)	p.Y230F(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			AAAGATGTGTACGTGGTAACA	0.478																																						uc003swc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)	5						c.(688-690)TAC>TTC		glycoprotein (transmembrane) nmb isoform a							149.0	137.0	141.0					7																	23299746		2203	4300	6503	SO:0001583	missense	10457				negative regulation of cell proliferation	melanosome		g.chr7:23299746A>T	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.689A>T	7.37:g.23299746A>T	ENSP00000371420:p.Tyr230Phe					GPNMB_uc003swb.2_Missense_Mutation_p.Y230F|GPNMB_uc011jyy.1_Missense_Mutation_p.Y172F|GPNMB_uc011jyz.1_Missense_Mutation_p.Y131F	p.Y230F	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		5	850	+			230			Extracellular (Potential).		A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	c.689A>T	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	A	19.58	3.854308	0.71719	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000539136;ENST00000453162	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000004	T	0.26666	0.0652	L	0.33710	1.025	0.50632	D	0.99988	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.91635	0.997;0.999;0.996;0.987	T	0.01334	-1.1382	9	.	.	.	-24.1761	15.4598	0.75346	1.0:0.0:0.0:0.0	.	131;172;230;230	F6SKP1;F5GY20;Q14956;Q14956-2	.;.;GPNMB_HUMAN;.	F	230;265;230;113;131;172	ENSP00000258733:Y230F;ENSP00000371420:Y230F;ENSP00000445266:Y131F;ENSP00000405586:Y172F	.	Y	+	2	0	GPNMB	23266271	0.980000	0.34600	0.962000	0.40283	0.981000	0.71138	2.592000	0.46171	2.234000	0.73211	0.533000	0.62120	TAC		PASS	0.478	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		25	128	25	128	---	---	---	---
HOXA10	3206	broad.mit.edu	37	7	27213793	27213793	+	Missense_Mutation	SNP	C	C	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr7:27213793C>G	ENST00000283921.4	-	1	132	c.133G>C	c.(133-135)Ggt>Cgt	p.G45R	HOXA-AS4_ENST00000519694.1_RNA|HOXA-AS4_ENST00000519935.1_RNA|RP1-170O19.20_ENST00000470747.4_Intron|HOXA10_ENST00000521421.1_5'Flank|RP1-170O19.20_ENST00000465941.1_Intron|HOXA10_ENST00000396344.4_Intron|HOXA-AS4_ENST00000523790.1_RNA	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	45	Poly-Gly.				anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|male gonad development (GO:0008584)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|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.G45R(1)|p.G28R(1)		breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						ccaccaccaccgccgccTGCC	0.692																																						uc011jzm.1																			2	Substitution - Missense(2)		lung(2)		0						c.(133-135)GGT>CGT		homeobox A10 isoform a							22.0	26.0	25.0					7																	27213793		1095	2585	3680	SO:0001583	missense	3206				spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27213793C>G		CCDS5410.2	7p15.2	2011-06-20	2005-12-22		ENSG00000253293	ENSG00000253293		"""Homeoboxes / ANTP class : HOXL subclass"""	5100	protein-coding gene	gene with protein product		142957	"""homeo box A10"""	HOX1H, HOX1		1973146, 1358459	Standard	NR_037939		Approved		uc011jzm.2	P31260	OTTHUMG00000023436	ENST00000283921.4:c.133G>C	7.37:g.27213793C>G	ENSP00000283921:p.Gly45Arg					HOXA10_uc003syw.3_Intron	p.G45R	NM_018951	NP_061824	P31260	HXA10_HUMAN			1	163	-			45			Poly-Gly.		O43370|O43605|Q15949|Q504T1	Missense_Mutation	SNP	ENST00000283921.4	37	c.133G>C	CCDS5410.2	.	.	.	.	.	.	.	.	.	.	c	17.58	3.424116	0.62733	.	.	ENSG00000253293	ENST00000283921;ENST00000381834	T	0.55760	0.5	4.82	4.82	0.62117	.	.	.	.	.	T	0.64538	0.2607	L	0.59436	1.845	0.80722	D	1	D	0.57571	0.98	P	0.56865	0.808	T	0.68296	-0.5446	9	0.62326	D	0.03	.	16.1864	0.81955	0.0:1.0:0.0:0.0	.	45	P31260	HXA10_HUMAN	R	45;28	ENSP00000283921:G45R	ENSP00000283921:G45R	G	-	1	0	HOXA10	27180318	0.987000	0.35691	0.968000	0.41197	0.640000	0.38277	0.878000	0.28126	2.226000	0.72624	0.544000	0.68410	GGT		PASS	0.692	HOXA10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358724.2			17	61	17	61	---	---	---	---
ADCYAP1R1	117	broad.mit.edu	37	7	31126607	31126607	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr7:31126607G>T	ENST00000304166.4	+	11	1163	c.874G>T	c.(874-876)Gat>Tat	p.D292Y	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.D292Y|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.D292Y|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.D271Y	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	292					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.D292Y(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						ACTCTACTTTGATGACACAGG	0.507																																					Ovarian(44;225 1186 2158 11092)	uc003tca.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(874-876)GAT>TAT		adenylate cyclase activating polypeptide 1							212.0	189.0	196.0					7																	31126607		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31126607G>T		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.874G>T	7.37:g.31126607G>T	ENSP00000306620:p.Asp292Tyr					ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.D271Y|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.D292Y|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.D292Y|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.D292Y|ADCYAP1R1_uc003tcf.1_5'UTR	p.D292Y	NM_001118	NP_001109	P41586	PACR_HUMAN			11	1097	+			292			Extracellular (Potential).		A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.874G>T	CCDS5433.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.81|12.81	2.049629|2.049629	0.36181|0.36181	.|.	.|.	ENSG00000078549|ENSG00000078549	ENST00000304166;ENST00000381667;ENST00000409363;ENST00000396211;ENST00000409489|ENST00000436116	T;T;T;T|.	0.38887|.	1.11;1.25;1.27;1.27|.	5.56|5.56	5.56|5.56	0.83823|0.83823	GPCR, family 2-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.53834|.	0.1821|.	N|N	0.21194|0.21194	0.64|0.64	0.80722|0.80722	D|D	1|1	P;D;D;D;D|.	0.53151|.	0.571;0.958;0.958;0.958;0.958|.	B;P;P;P;P|.	0.58780|.	0.285;0.781;0.845;0.781;0.781|.	T|.	0.48490|.	-0.9031|.	10|.	0.49607|.	T|.	0.09|.	.|.	17.0276|17.0276	0.86452|0.86452	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	292;292;292;271;292|.	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586|.	.;.;.;.;PACR_HUMAN|.	Y|L	292;63;271;292;292|8	ENSP00000306620:D292Y;ENSP00000387335:D271Y;ENSP00000379514:D292Y;ENSP00000386395:D292Y|.	ENSP00000306620:D292Y|.	D|X	+|+	1|2	0|2	ADCYAP1R1|ADCYAP1R1	31093132|31093132	1.000000|1.000000	0.71417|0.71417	0.734000|0.734000	0.30879|0.30879	0.612000|0.612000	0.37316|0.37316	4.088000|4.088000	0.57678|0.57678	2.600000|2.600000	0.87896|0.87896	0.650000|0.650000	0.86243|0.86243	GAT|TGA		PASS	0.507	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		25	167	25	167	---	---	---	---
GLI3	2737	broad.mit.edu	37	7	42007481	42007481	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr7:42007481C>A	ENST00000395925.3	-	14	2228	c.2144G>T	c.(2143-2145)aGc>aTc	p.S715I	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	715					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S715I(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGACTGTTGGCTGCTGCATGA	0.542									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1																			1	Substitution - Missense(1)		lung(1)	lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(2143-2145)AGC>ATC		GLI-Kruppel family member GLI3							142.0	139.0	140.0					7																	42007481		2203	4300	6503	SO:0001583	missense	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42007481C>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2144G>T	7.37:g.42007481C>A	ENSP00000379258:p.Ser715Ile					GLI3_uc011kbg.1_Missense_Mutation_p.S656I	p.S715I	NM_000168	NP_000159	P10071	GLI3_HUMAN			14	2235	-			715					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.2144G>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	34	5.378810	0.95945	.	.	ENSG00000106571	ENST00000395925	T	0.18502	2.21	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.47637	0.1456	M	0.84326	2.69	0.80722	D	1	D	0.62365	0.991	D	0.65874	0.939	T	0.48779	-0.9005	10	0.87932	D	0	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	715	P10071	GLI3_HUMAN	I	715	ENSP00000379258:S715I	ENSP00000379258:S715I	S	-	2	0	GLI3	41974006	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.091000	0.71406	2.752000	0.94435	0.655000	0.94253	AGC		PASS	0.542	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		23	209	23	209	---	---	---	---
IGFBP3	3486	broad.mit.edu	37	7	45956972	45956972	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr7:45956972G>T	ENST00000275521.6	-	2	603	c.470C>A	c.(469-471)aCg>aAg	p.T157K	IGFBP3_ENST00000381083.4_Missense_Mutation_p.T163K|IGFBP3_ENST00000381086.5_Missense_Mutation_p.T60K|IGFBP3_ENST00000465642.1_5'UTR	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	157	Ser/Thr-rich.				apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myoblast differentiation (GO:0045663)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|insulin-like growth factor binding protein complex (GO:0016942)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activator activity (GO:0008160)	p.T157K(1)		large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	CACCCGGTGCGTGCTGGAGAC	0.532											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003tns.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(1)	3						c.(469-471)ACG>AAG		insulin-like growth factor binding protein 3	Mecasermin(DB01277)						81.0	77.0	78.0					7																	45956972		2203	4300	6503	SO:0001583	missense	3486				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity	g.chr7:45956972G>T		CCDS5505.1, CCDS34632.1	7p12.3	2014-09-17			ENSG00000146674	ENSG00000146674			5472	protein-coding gene	gene with protein product	"""growth hormone-dependent binding protein"", ""acid stable subunit of the 140 K IGF complex"", ""binding protein 53"", ""binding protein 29"", ""IGF-binding protein 3"""	146732				1695633	Standard	NM_000598		Approved	IBP3, BP-53	uc003tnr.3	P17936	OTTHUMG00000023769	ENST00000275521.6:c.470C>A	7.37:g.45956972G>T	ENSP00000275521:p.Thr157Lys		OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	935	IGFBP3_uc003tnq.2_RNA|IGFBP3_uc003tnr.2_Missense_Mutation_p.T163K|IGFBP3_uc003tnt.2_Missense_Mutation_p.T60K	p.T157K	NM_000598	NP_000589	P17936	IBP3_HUMAN			2	602	-			157			Ser/Thr-rich.		A4D2F5|D3DVM0|Q2V509|Q6P1M6|Q9UCL4	Missense_Mutation	SNP	ENST00000275521.6	37	c.470C>A	CCDS5505.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	12.09|12.09|12.09	1.832153|1.832153|1.832153	0.32421|0.32421|0.32421	.|.|.	.|.|.	ENSG00000146674|ENSG00000146674|ENSG00000146674	ENST00000417621|ENST00000428530|ENST00000545032;ENST00000275521;ENST00000381086;ENST00000438491;ENST00000442142;ENST00000381083;ENST00000433047;ENST00000448817	.|.|T;T;T;T	.|.|0.26518	.|.|2.39;1.73;2.4;1.8	5.55|5.55|5.55	4.48|4.48|4.48	0.54585|0.54585|0.54585	.|.|.	.|.|1.017190	.|.|0.07825	.|.|N	.|.|0.960452	T|T|T	0.30262|0.30262|0.30262	0.0759|0.0759|0.0759	M|M|M	0.74881|0.74881|0.74881	2.28|2.28|2.28	0.20074|0.20074|0.20074	N|N|N	0.999933|0.999933|0.999933	.|.|P;P;P	.|.|0.44578	.|.|0.623;0.475;0.838	.|.|B;B;B	.|.|0.38225	.|.|0.268;0.242;0.195	T|T|T	0.21075|0.21075|0.21075	-1.0256|-1.0256|-1.0256	5|5|10	.|.|0.33141	.|.|T	.|.|0.24	-22.697|-22.697|-22.697	10.1854|10.1854|10.1854	0.42995|0.42995|0.42995	0.1048:0.0:0.8952:0.0|0.1048:0.0:0.8952:0.0|0.1048:0.0:0.8952:0.0	.|.|.	.|.|60;157;142	.|.|B3KWK7;P17936;B4DN53	.|.|.;IBP3_HUMAN;.	Q|S|K	18|9|134;157;60;143;55;163;129;47	.|.|ENSP00000275521:T157K;ENSP00000370476:T60K;ENSP00000370473:T163K;ENSP00000389668:T47K	.|.|ENSP00000275521:T157K	H|R|T	-|-|-	3|1|2	2|0|0	IGFBP3|IGFBP3|IGFBP3	45923497|45923497|45923497	0.879000|0.879000|0.879000	0.30193|0.30193|0.30193	0.258000|0.258000|0.258000	0.24420|0.24420|0.24420	0.057000|0.057000|0.057000	0.15508|0.15508|0.15508	2.749000|2.749000|2.749000	0.47492|0.47492|0.47492	2.613000|2.613000|2.613000	0.88420|0.88420|0.88420	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	CAC|CGC|ACG		PASS	0.532	IGFBP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251356.3	NM_001013398		27	137	27	137	---	---	---	---
IKZF1	10320	broad.mit.edu	37	7	50468275	50468275	+	Missense_Mutation	SNP	G	G	C			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr7:50468275G>C	ENST00000331340.3	+	8	1665	c.1510G>C	c.(1510-1512)Gag>Cag	p.E504Q	IKZF1_ENST00000346667.4_Missense_Mutation_p.E274Q|IKZF1_ENST00000349824.4_Missense_Mutation_p.E361Q|IKZF1_ENST00000343574.5_Missense_Mutation_p.E417Q|IKZF1_ENST00000357364.4_Missense_Mutation_p.E417Q|IKZF1_ENST00000359197.5_Missense_Mutation_p.E462Q|IKZF1_ENST00000438033.1_Missense_Mutation_p.E417Q|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000439701.1_Missense_Mutation_p.E462Q	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	504					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)|p.E504fs*10(1)|p.E504Q(1)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GGACCGGTACGAGTTCTCGTC	0.612			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	uc003tow.3				"""Rec,Dom"""	yes		7	7p12.2	10320	D	IKAROS family zinc finger 1			L			ALL		30	Unknown(28)|Substitution - Missense(1)|Insertion - Frameshift(1)	p.E504fs*?(1)	haematopoietic_and_lymphoid_tissue(29)|lung(1)	haematopoietic_and_lymphoid_tissue(147)|lung(1)	148						c.(1510-1512)GAG>CAG		zinc finger protein, subfamily 1A, 1 (Ikaros)							48.0	52.0	51.0					7																	50468275		2180	4290	6470	SO:0001583	missense	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50468275G>C	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1510G>C	7.37:g.50468275G>C	ENSP00000331614:p.Glu504Gln					IKZF1_uc003tox.3_Missense_Mutation_p.E462Q|IKZF1_uc003toy.3_Missense_Mutation_p.E462Q|IKZF1_uc011kck.1_Missense_Mutation_p.E417Q|IKZF1_uc003toz.3_Missense_Mutation_p.E474Q|IKZF1_uc010kyx.2_Missense_Mutation_p.E244Q|IKZF1_uc003tpa.3_Missense_Mutation_p.E246Q	p.E504Q	NM_006060	NP_006051	Q13422	IKZF1_HUMAN			9	1678	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	504			C2H2-type 6.		A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37	c.1510G>C		.	.	.	.	.	.	.	.	.	.	G	35	5.422788	0.96111	.	.	ENSG00000185811	ENST00000346667;ENST00000343574;ENST00000359197;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.75	5.75	0.90469	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.68302	0.2986	.	.	.	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;0.997	T	0.69687	-0.5078	9	0.62326	D	0.03	-9.215	19.9376	0.97146	0.0:0.0:1.0:0.0	.	417;274;417;462;504	Q13422-2;Q13422-6;Q13422-3;Q13422-7;Q13422	.;.;.;.;IKZF1_HUMAN	Q	274;417;462;361;417;504;417;462	ENSP00000340080:E274Q;ENSP00000342750:E417Q;ENSP00000352123:E462Q;ENSP00000342485:E361Q;ENSP00000349928:E417Q;ENSP00000331614:E504Q;ENSP00000396554:E417Q;ENSP00000413025:E462Q	ENSP00000331614:E504Q	E	+	1	0	IKZF1	50435769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.758000	0.98927	2.711000	0.92665	0.655000	0.94253	GAG		PASS	0.612	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		11	137	11	137	---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55259469	55259469	+	Missense_Mutation	SNP	G	G	T	rs146795390		TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr7:55259469G>T	ENST00000275493.2	+	21	2704	c.2527G>T	c.(2527-2529)Gta>Tta	p.V843L	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.V798L|EGFR_ENST00000454757.2_Missense_Mutation_p.V790L|EGFR-AS1_ENST00000442411.1_RNA	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	843	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.V843I(3)|p.V843L(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCCAGGAACGTACTGGTGAA	0.537		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		4	Substitution - Missense(4)	p.V843I(6)	lung(2)|upper_aerodigestive_tract(1)|biliary_tract(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	GRCh37	CM082606	EGFR	M	rs146795390	c.(2527-2529)GTA>TTA		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						120.0	105.0	110.0					7																	55259469		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55259469G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2527G>T	7.37:g.55259469G>T	ENSP00000275493:p.Val843Leu	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_Missense_Mutation_p.V798L|EGFR_uc011kco.1_Missense_Mutation_p.V790L|uc003tqo.2_5'Flank	p.V843L	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		21	2773	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		843			Cytoplasmic (Potential).|Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2527G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174054	0.94807	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.62639	0.01;0.01;0.01	5.82	5.82	0.92795	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76550	0.4003	L	0.56280	1.765	0.80722	D	1	D;D	0.71674	0.989;0.998	P;D	0.75020	0.828;0.985	T	0.77370	-0.2613	10	0.87932	D	0	.	18.6604	0.91470	0.0:0.0:1.0:0.0	.	798;843	Q504U8;P00533	.;EGFR_HUMAN	L	798;713;843;790	ENSP00000415559:V798L;ENSP00000275493:V843L;ENSP00000395243:V790L	ENSP00000275493:V843L	V	+	1	0	EGFR	55226963	1.000000	0.71417	0.927000	0.36925	0.974000	0.67602	9.704000	0.98716	2.751000	0.94390	0.650000	0.86243	GTA		PASS	0.537	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		198	88	198	88	---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55259524	55259524	+	Missense_Mutation	SNP	T	T	A	rs121913444		TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr7:55259524T>A	ENST00000275493.2	+	21	2759	c.2582T>A	c.(2581-2583)cTg>cAg	p.L861Q	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.L816Q|EGFR_ENST00000454757.2_Missense_Mutation_p.L808Q|EGFR-AS1_ENST00000442411.1_RNA	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	861	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		L -> Q (found in a lung cancer sample; constitutively activated kinase with higher levels of basal autophosphorylation; more sensitive to gefitinib than wild-type; dbSNP:rs121913444). {ECO:0000269|PubMed:15623594, ECO:0000269|PubMed:16533793}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.L861Q(53)|p.L861R(6)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CTGGCCAAACTGCTGGGTGCG	0.557		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		59	Substitution - Missense(59)	p.L861Q(96)|p.L861R(10)|p.A859_L883>V(2)|p.L861F(1)|p.L861V(1)|p.L861P(1)	lung(57)|upper_aerodigestive_tract(1)|central_nervous_system(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2581-2583)CTG>CAG		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						102.0	96.0	98.0					7																	55259524		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55259524T>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2582T>A	7.37:g.55259524T>A	ENSP00000275493:p.Leu861Gln	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_Missense_Mutation_p.L816Q|EGFR_uc011kco.1_Missense_Mutation_p.L808Q|uc003tqo.2_5'Flank	p.L861Q	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		21	2828	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		861		L -> Q (found in a lung cancer sample).	Cytoplasmic (Potential).|Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2582T>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955260	0.73902	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	D;D;D	0.82255	-1.59;-1.59;-1.59	5.82	5.82	0.92795	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85513	0.5714	N	0.25332	0.735	0.58432	D	0.999998	P;D	0.76494	0.481;0.999	B;D	0.71414	0.287;0.973	D	0.87493	0.2428	10	0.87932	D	0	.	15.0046	0.71501	0.0:0.0:0.0:1.0	.	816;861	Q504U8;P00533	.;EGFR_HUMAN	Q	816;731;861;808	ENSP00000415559:L816Q;ENSP00000275493:L861Q;ENSP00000395243:L808Q	ENSP00000275493:L861Q	L	+	2	0	EGFR	55227018	1.000000	0.71417	0.971000	0.41717	0.664000	0.39144	7.911000	0.87458	2.221000	0.72209	0.528000	0.53228	CTG		PASS	0.557	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		174	98	174	98	---	---	---	---
ABCB4	5244	broad.mit.edu	37	7	87082427	87082427	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr7:87082427C>A	ENST00000265723.4	-	6	480	c.369G>T	c.(367-369)ttG>ttT	p.L123F	ABCB4_ENST00000545634.1_Missense_Mutation_p.L123F|ABCB4_ENST00000453593.1_Missense_Mutation_p.L123F|ABCB4_ENST00000359206.3_Missense_Mutation_p.L123F|ABCB4_ENST00000358400.3_Missense_Mutation_p.L123F	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	123	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.L123F(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CTCCAGCACCCAATCCTGAGT	0.353																																						uc003uiv.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)|pancreas(1)	6						c.(367-369)TTG>TTT		ATP-binding cassette, subfamily B, member 4							73.0	70.0	71.0					7																	87082427		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87082427C>A	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.369G>T	7.37:g.87082427C>A	ENSP00000265723:p.Leu123Phe					ABCB4_uc003uiw.1_Missense_Mutation_p.L123F|ABCB4_uc003uix.1_Missense_Mutation_p.L123F|ABCB4_uc003uiy.2_Missense_Mutation_p.L123F	p.L123F	NM_018849	NP_061337	P21439	MDR3_HUMAN			6	445	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		123			Helical; (By similarity).|ABC transmembrane type-1 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.369G>T	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562228	0.65538	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58	5.76	2.16	0.27623	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.219628	0.39759	N	0.001272	D	0.89532	0.6742	M	0.64170	1.965	0.49798	D	0.999826	P;P;P;D	0.53151	0.9;0.459;0.948;0.958	P;B;P;P	0.58266	0.692;0.315;0.747;0.836	D	0.86482	0.1792	10	0.87932	D	0	-11.8792	3.2122	0.06686	0.2739:0.2191:0.0:0.507	.	123;123;123;123	Q6PJ81;A4D1D5;P21439-2;P21439	.;.;.;MDR3_HUMAN	F	123	ENSP00000352135:L123F;ENSP00000351172:L123F;ENSP00000265723:L123F;ENSP00000392983:L123F;ENSP00000437465:L123F	ENSP00000265723:L123F	L	-	3	2	ABCB4	86920363	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	0.836000	0.27545	0.447000	0.26695	-0.469000	0.05056	TTG		PASS	0.353	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		25	71	25	71	---	---	---	---
ANKIB1	54467	broad.mit.edu	37	7	92019373	92019373	+	Silent	SNP	A	A	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr7:92019373A>T	ENST00000265742.3	+	15	2371	c.1995A>T	c.(1993-1995)ccA>ccT	p.P665P		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	665							zinc ion binding (GO:0008270)	p.P665P(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTTCTTATCCATATGGATTTT	0.333																																						uc003ulw.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(1993-1995)CCA>CCT		ankyrin repeat and IBR domain containing 1							101.0	96.0	98.0					7																	92019373		1824	4077	5901	SO:0001819	synonymous_variant	54467						protein binding|zinc ion binding	g.chr7:92019373A>T	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.1995A>T	7.37:g.92019373A>T						ANKIB1_uc010lew.1_5'UTR	p.P665P	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		15	2371	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		665					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Silent	SNP	ENST00000265742.3	37	c.1995A>T	CCDS47639.1																																																																																				PASS	0.333	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			42	114	42	114	---	---	---	---
BAIAP2L1	55971	broad.mit.edu	37	7	97920546	97920546	+	IGR	SNP	C	C	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr7:97920546C>G	ENST00000005260.8	-	0	3622				BRI3_ENST00000539286.1_Intron|BRI3_ENST00000473967.1_3'UTR|BRI3_ENST00000297290.3_Silent_p.T123T	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1						filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.T123T(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GTGGAGCCACCTTCGCTTAAA	0.473																																						uc003upi.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(367-369)ACC>ACG		brain protein I3 isoform a							118.0	90.0	100.0					7																	97920546		2203	4300	6503	SO:0001628	intergenic_variant	25798					integral to membrane		g.chr7:97920546C>G	AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117		7.37:g.97920546C>G						BRI3_uc011kip.1_Intron	p.T123T	NM_015379	NP_056194	O95415	BRI3_HUMAN			3	498	+	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		123					A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Silent	SNP	ENST00000005260.8	37	c.369C>G	CCDS34687.1																																																																																				PASS	0.473	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842		28	70	28	70	---	---	---	---
MOSPD3	64598	broad.mit.edu	37	7	100210480	100210480	+	Silent	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr7:100210480G>T	ENST00000393950.2	+	1	348	c.66G>T	c.(64-66)cgG>cgT	p.R22R	MOSPD3_ENST00000424091.2_Silent_p.R22R|MOSPD3_ENST00000223054.4_Silent_p.R22R|MOSPD3_ENST00000379527.2_Silent_p.R22R	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	22					heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)	p.R22R(1)		breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					gggggtcccggggcgccccTC	0.731																																						uc003uvq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(64-66)CGG>CGT		motile sperm domain containing 3 isoform a							14.0	17.0	16.0					7																	100210480		2114	4183	6297	SO:0001819	synonymous_variant	64598					integral to membrane	structural molecule activity	g.chr7:100210480G>T	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.66G>T	7.37:g.100210480G>T						MOSPD3_uc003uvr.2_Silent_p.R22R|MOSPD3_uc003uvs.2_Silent_p.R22R|MOSPD3_uc003uvt.2_Silent_p.R22R	p.R22R	NM_001040097	NP_001035186	O75425	MSPD3_HUMAN			2	268	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		22					A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Silent	SNP	ENST00000393950.2	37	c.66G>T	CCDS5701.1																																																																																				PASS	0.731	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		13	34	13	34	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100371097	100371097	+	RNA	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr7:100371097C>A	ENST00000348028.3	+	0	5780				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_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.P1872Q(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)			TGCACTGACCCAGCGGGCTCC	0.637																																						uc003uwj.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(5614-5616)CCA>CAA		zonadhesin isoform 3							33.0	37.0	36.0					7																	100371097		1961	4131	6092			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100371097C>A	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.100371097C>A						ZAN_uc003uwk.2_Missense_Mutation_p.P1872Q|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Missense_Mutation_p.P449Q|ZAN_uc011kke.1_5'Flank	p.P1872Q	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		30	5780	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		1872			VWFC 3.|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.5615C>A		.	.	.	.	.	.	.	.	.	.	C	0.011	-1.712543	0.00712	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.04603	3.59;3.59;3.59	4.58	-6.43	0.01926	von Willebrand factor, type C (1);	2.540690	0.01538	N	0.019095	T	0.03136	0.0092	N	0.14661	0.345	0.09310	N	1	B;B	0.18461	0.023;0.028	B;B	0.19148	0.014;0.024	T	0.41124	-0.9526	10	0.18710	T	0.47	.	9.4823	0.38908	0.2745:0.5433:0.1822:0.0	.	1872;1872	F5H0T8;Q9Y493	.;ZAN_HUMAN	Q	1872	ENSP00000445943:P1872Q;ENSP00000445091:P1872Q;ENSP00000444427:P1872Q	ENSP00000423579:P1872Q	P	+	2	0	ZAN	100209033	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.737000	0.04877	-0.883000	0.03982	0.297000	0.19635	CCA		PASS	0.637	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		14	29	14	29	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100677549	100677549	+	Missense_Mutation	SNP	C	C	A	rs373737221		TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr7:100677549C>A	ENST00000306151.4	+	3	2916	c.2852C>A	c.(2851-2853)aCc>aAc	p.T951N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	951	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T951N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGTTGACACCAGCACACCT	0.512																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(2851-2853)ACC>AAC		mucin 17 precursor							325.0	297.0	307.0					7																	100677549		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677549C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2852C>A	7.37:g.100677549C>A	ENSP00000302716:p.Thr951Asn					MUC17_uc010lho.1_RNA	p.T951N	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	2905	+	Lung NSC(181;0.136)|all_lung(186;0.182)		951			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|13.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2852C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	1.147	-0.647663	0.03506	.	.	ENSG00000169876	ENST00000306151	T	0.02472	4.28	1.09	-2.18	0.07037	.	.	.	.	.	T	0.01870	0.0059	L	0.29908	0.895	0.09310	N	1	P	0.51933	0.949	B	0.39904	0.313	T	0.42515	-0.9447	9	0.17832	T	0.49	.	4.802	0.13301	0.0:0.4758:0.3443:0.1799	.	951	Q685J3	MUC17_HUMAN	N	951	ENSP00000302716:T951N	ENSP00000302716:T951N	T	+	2	0	MUC17	100464269	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.560000	0.05964	-1.525000	0.01762	0.134000	0.15878	ACC		PASS	0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		60	497	60	497	---	---	---	---
PIK3CG	5294	broad.mit.edu	37	7	106508804	106508804	+	Silent	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr7:106508804C>T	ENST00000359195.3	+	2	1108	c.798C>T	c.(796-798)agC>agT	p.S266S	PIK3CG_ENST00000440650.2_Silent_p.S266S|PIK3CG_ENST00000496166.1_Silent_p.S266S	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	266	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S266S(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AAAGCCAAAGCGAACAGGATT	0.552																																						uc003vdv.3																			1	Substitution - coding silent(1)		lung(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(796-798)AGC>AGT		phosphoinositide-3-kinase, catalytic, gamma							61.0	59.0	60.0					7																	106508804		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508804C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.798C>T	7.37:g.106508804C>T						PIK3CG_uc003vdu.2_Silent_p.S266S|PIK3CG_uc003vdw.2_Silent_p.S266S	p.S266S	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	883	+			266					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.798C>T	CCDS5739.1																																																																																				PASS	0.552	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			13	67	13	67	---	---	---	---
FEZF1	389549	broad.mit.edu	37	7	121944015	121944015	+	Silent	SNP	G	G	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr7:121944015G>A	ENST00000442488.2	-	1	544	c.477C>T	c.(475-477)gcC>gcT	p.A159A	FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000331178.4_Silent_p.A159A|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1-AS1_ENST00000424404.1_RNA|FEZF1_ENST00000427185.2_Intron	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	159					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.A159A(2)		breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GGTAGCACAAGGCGCCCATGG	0.657																																						uc003vkd.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(1)	3						c.(475-477)GCC>GCT		FEZ family zinc finger 1 isoform 1							13.0	13.0	13.0					7																	121944015		2202	4298	6500	SO:0001819	synonymous_variant	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121944015G>A	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.477C>T	7.37:g.121944015G>A						FEZF1_uc003vkc.2_Intron|uc010lko.1_RNA|uc003vkf.1_5'Flank	p.A159A	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN			1	551	-			159					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Silent	SNP	ENST00000442488.2	37	c.477C>T	CCDS34741.2																																																																																				PASS	0.657	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		4	9	4	9	---	---	---	---
RNF148	378925	broad.mit.edu	37	7	122342126	122342126	+	Missense_Mutation	SNP	G	G	C			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr7:122342126G>C	ENST00000434824.1	-	1	895	c.679C>G	c.(679-681)Caa>Gaa	p.Q227E	CADPS2_ENST00000449022.2_Intron|RNF133_ENST00000340112.2_5'Flank|RNF148_ENST00000447240.1_Nonsense_Mutation_p.S92*|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	227						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.Q227E(2)		endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						GTCTTTATTTGACTTCGCCTC	0.428																																						uc003vkk.1																			2	Substitution - Missense(2)		lung(2)		0						c.(679-681)CAA>GAA		ring finger protein 148 precursor							84.0	78.0	80.0					7																	122342126		1914	4126	6040	SO:0001583	missense	378925					integral to membrane	zinc ion binding	g.chr7:122342126G>C	BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"""RING-type (C3HC4) zinc fingers"""	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.679C>G	7.37:g.122342126G>C	ENSP00000388207:p.Gln227Glu					CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF133_uc003vkj.1_5'Flank|RNF148_uc010lkr.1_Nonsense_Mutation_p.S92*	p.Q227E	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN			1	896	-			227					A4D0X4|Q8N308	Missense_Mutation	SNP	ENST00000434824.1	37	c.679C>G	CCDS47692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.63|14.63	2.592568|2.592568	0.46214|0.46214	.|.	.|.	ENSG00000235631|ENSG00000235631	ENST00000434824|ENST00000447240	T|.	0.04654|.	3.58|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|.	.|.	.|.	.|.	T|.	0.73133|.	0.3548|.	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	B|.	0.09022|.	0.002|.	B|.	0.14023|.	0.01|.	T|.	0.75434|.	-0.3319|.	9|.	0.37606|0.87932	T|D	0.19|0	.|.	18.7121|18.7121	0.91661|0.91661	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	227|.	Q8N7C7|.	RN148_HUMAN|.	E|X	227|92	ENSP00000388207:Q227E|.	ENSP00000388207:Q227E|ENSP00000412846:S92X	Q|S	-|-	1|2	0|0	RNF148|RNF148	122129362|122129362	0.641000|0.641000	0.27251|0.27251	0.173000|0.173000	0.22940|0.22940	0.171000|0.171000	0.22731|0.22731	2.398000|2.398000	0.44486|0.44486	2.510000|2.510000	0.84645|0.84645	0.561000|0.561000	0.74099|0.74099	CAA|TCA		PASS	0.428	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	NM_198085		9	51	9	51	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128480702	128480702	+	Silent	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr7:128480702G>T	ENST00000325888.8	+	10	1911	c.1650G>T	c.(1648-1650)acG>acT	p.T550T	FLNC_ENST00000346177.6_Silent_p.T550T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	550					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.T550T(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGACCATCACGTGGGGCGGCT	0.647																																						uc003vnz.3																			1	Substitution - coding silent(1)		lung(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(1648-1650)ACG>ACT		gamma filamin isoform a							159.0	179.0	172.0					7																	128480702		2141	4237	6378	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128480702G>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1650G>T	7.37:g.128480702G>T						FLNC_uc003voa.3_Silent_p.T550T	p.T550T	NM_001458	NP_001449	Q14315	FLNC_HUMAN			10	1859	+			550			Filamin 3.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.1650G>T	CCDS43644.1																																																																																				PASS	0.647	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			59	91	59	91	---	---	---	---
CNOT4	4850	broad.mit.edu	37	7	135078671	135078671	+	Splice_Site	SNP	T	T	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr7:135078671T>A	ENST00000315544.5	-	10	1905	c.1626A>T	c.(1624-1626)gcA>gcT	p.A542A	CNOT4_ENST00000451834.1_Splice_Site_p.A539A|CNOT4_ENST00000423368.2_Splice_Site_p.A542A|CNOT4_ENST00000428680.2_Splice_Site_p.A539A|CNOT4_ENST00000541284.1_Splice_Site_p.A542A|CNOT4_ENST00000361528.4_Splice_Site_p.A539A|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000356162.4_Intron	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	542					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A542A(3)|p.A539A(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TGAACCTACCTGCTACAGGGA	0.413																																					Ovarian(51;766 1130 5502 35047 50875)	uc003vsv.1																			4	Substitution - coding silent(4)		lung(4)		0						c.(1624-1626)GCA>GCT		CCR4-NOT transcription complex, subunit 4							50.0	51.0	51.0					7																	135078671		1855	4110	5965	SO:0001630	splice_region_variant	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135078671T>A	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.1627+1A>T	7.37:g.135078671T>A						CNOT4_uc003vss.2_Silent_p.A539A|CNOT4_uc011kpz.1_Silent_p.A539A|CNOT4_uc003vst.2_Silent_p.A542A|CNOT4_uc003vsu.1_Silent_p.A539A|CNOT4_uc011kpy.1_Silent_p.A542A	p.A542A	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN			10	1933	-			542					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Silent	SNP	ENST00000315544.5	37	c.1626A>T	CCDS55166.1																																																																																				PASS	0.413	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316	Silent	8	54	8	54	---	---	---	---
DGKI	9162	broad.mit.edu	37	7	137374731	137374731	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr7:137374731G>T	ENST00000288490.5	-	2	419	c.419C>A	c.(418-420)gCa>gAa	p.A140E	DGKI_ENST00000453654.2_Intron|DGKI_ENST00000446122.1_Missense_Mutation_p.A140E|DGKI_ENST00000424189.2_Missense_Mutation_p.A140E	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	140					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.A140E(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTGGAGGCCTGCCCGGGAGAT	0.498																																						uc003vtt.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(418-420)GCA>GAA		diacylglycerol kinase, iota							62.0	63.0	62.0					7																	137374731		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137374731G>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.419C>A	7.37:g.137374731G>T	ENSP00000288490:p.Ala140Glu					DGKI_uc003vtu.2_Intron	p.A140E	NM_004717	NP_004708	O75912	DGKI_HUMAN			2	420	-			140					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.419C>A	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842464	0.71488	.	.	ENSG00000157680	ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T	0.33865	1.39;1.57	5.64	5.64	0.86602	.	0.297616	0.38720	N	0.001586	T	0.25717	0.0626	N	0.14661	0.345	0.36681	D	0.879064	B	0.33549	0.417	B	0.29524	0.103	T	0.29212	-1.0019	10	0.72032	D	0.01	.	18.4682	0.90763	0.0:0.0:1.0:0.0	.	140	O75912	DGKI_HUMAN	E	88;140;140;140	ENSP00000288490:A140E;ENSP00000399131:A140E	ENSP00000288490:A140E	A	-	2	0	DGKI	137025271	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.727000	0.74764	2.658000	0.90341	0.563000	0.77884	GCA		PASS	0.498	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		8	80	8	80	---	---	---	---
KDM7A	80853	broad.mit.edu	37	7	139793879	139793879	+	Missense_Mutation	SNP	C	C	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr7:139793879C>G	ENST00000397560.2	-	18	2531	c.2434G>C	c.(2434-2436)Gat>Cat	p.D812H	Y_RNA_ENST00000515919.1_RNA	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		812					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|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)|zinc ion binding (GO:0008270)	p.D812H(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					CTGGAAGTATCAAACTGTTTA	0.318																																						uc003vvm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2434-2436)GAT>CAT		jumonji C domain containing histone demethylase							122.0	122.0	122.0					7																	139793879		1815	4080	5895	SO:0001583	missense	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139793879C>G																												ENST00000397560.2:c.2434G>C	7.37:g.139793879C>G	ENSP00000380692:p.Asp812His					JHDM1D_uc010lng.2_RNA	p.D812H	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN			18	2438	-	Melanoma(164;0.0142)		812					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	c.2434G>C	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162723	0.57368	.	.	ENSG00000006459	ENST00000397560	T	0.12984	2.63	4.29	4.29	0.51040	.	0.724815	0.14170	N	0.336787	T	0.13586	0.0329	L	0.47716	1.5	0.80722	D	1	P	0.49961	0.93	B	0.42214	0.38	T	0.01316	-1.1387	10	0.56958	D	0.05	-22.6481	8.2972	0.31993	0.0:0.8961:0.0:0.1039	.	812	Q6ZMT4	KDM7_HUMAN	H	812	ENSP00000380692:D812H	ENSP00000380692:D812H	D	-	1	0	JHDM1D	139440348	0.971000	0.33674	0.904000	0.35570	0.969000	0.65631	2.184000	0.42575	2.674000	0.91012	0.650000	0.86243	GAT		PASS	0.318	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			31	265	31	265	---	---	---	---
TAS2R60	338398	broad.mit.edu	37	7	143141210	143141210	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr7:143141210G>T	ENST00000332690.1	+	1	665	c.665G>T	c.(664-666)aGa>aTa	p.R222I	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	222					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R222I(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCTCTGGGAAGACACAGGAAG	0.463																																						uc011ktg.1																			1	Substitution - Missense(1)		lung(1)	skin(6)	6						c.(664-666)AGA>ATA		taste receptor, type 2, member 60							128.0	130.0	129.0					7																	143141210		2203	4300	6503	SO:0001583	missense	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143141210G>T	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.665G>T	7.37:g.143141210G>T	ENSP00000327724:p.Arg222Ile					uc003wda.2_Intron	p.R222I	NM_177437	NP_803186	P59551	T2R60_HUMAN			1	665	+	Melanoma(164;0.172)		222			Cytoplasmic (Potential).		A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	ENST00000332690.1	37	c.665G>T	CCDS5885.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994340	0.54041	.	.	ENSG00000185899	ENST00000332690	T	0.01092	5.35	5.36	3.48	0.39840	.	0.411550	0.23789	U	0.044554	T	0.05593	0.0147	M	0.80616	2.505	0.47009	D	0.99928	D	0.89917	1.0	D	0.79784	0.993	T	0.05225	-1.0898	10	0.87932	D	0	.	6.7248	0.23350	0.2328:0.0:0.7672:0.0	.	222	P59551	T2R60_HUMAN	I	222	ENSP00000327724:R222I	ENSP00000327724:R222I	R	+	2	0	TAS2R60	142851332	0.990000	0.36364	0.987000	0.45799	0.392000	0.30506	0.756000	0.26419	0.560000	0.29169	0.591000	0.81541	AGA		PASS	0.463	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			49	114	49	114	---	---	---	---
ARHGEF35	445328	broad.mit.edu	37	7	143884332	143884332	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr7:143884332C>A	ENST00000378115.2	-	2	1274	c.1145G>T	c.(1144-1146)tGg>tTg	p.W382L	ARHGEF35_ENST00000543357.1_Missense_Mutation_p.W382L	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	382	Glu-rich.							p.W382L(1)		kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						GCCCCCATCCCAACTCTCTGG	0.562																																						uc003wdz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1144-1146)TGG>TTG		Rho guanine nucleotide exchange factor (GEF)							17.0	18.0	18.0					7																	143884332		1915	3661	5576	SO:0001583	missense	445328							g.chr7:143884332C>A	AK125680	CCDS34770.1	7q35	2012-07-24	2010-04-13	2010-04-13	ENSG00000213214	ENSG00000213214		"""Rho guanine nucleotide exchange factors"""	33846	protein-coding gene	gene with protein product			"""Rho guanine nucleotide exchange factor (GEF) 5-like"""	ARHGEF5L			Standard	NM_001003702		Approved	FLJ43692, CTAGE4	uc003wdz.2	A5YM69	OTTHUMG00000158010	ENST00000378115.2:c.1145G>T	7.37:g.143884332C>A	ENSP00000367355:p.Trp382Leu						p.W382L	NM_001003702	NP_001003702	A5YM69	ARG35_HUMAN			2	1263	-			382			Glu-rich.		Q6ZUI2	Missense_Mutation	SNP	ENST00000378115.2	37	c.1145G>T	CCDS34770.1	.	.	.	.	.	.	.	.	.	.	.	12.85	2.062568	0.36373	.	.	ENSG00000213214	ENST00000378115;ENST00000543357	.	.	.	2.4	-1.4	0.08968	.	.	.	.	.	T	0.12092	0.0294	L	0.27053	0.805	0.09310	N	1	P	0.35821	0.523	B	0.29598	0.104	T	0.19192	-1.0313	8	0.09843	T	0.71	.	0.757	0.01000	0.2404:0.3573:0.2372:0.1651	.	382	A5YM69	ARG35_HUMAN	L	382	.	ENSP00000367355:W382L	W	-	2	0	ARHGEF35	143515265	0.000000	0.05858	0.000000	0.03702	0.140000	0.21249	-0.005000	0.12855	-0.061000	0.13110	0.184000	0.17185	TGG		PASS	0.562	ARHGEF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349997.1	NM_001003702		8	20	8	20	---	---	---	---
ZNF425	155054	broad.mit.edu	37	7	148802283	148802283	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr7:148802283G>A	ENST00000378061.2	-	4	812	c.680C>T	c.(679-681)tCc>tTc	p.S227F		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	227					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S227F(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTTCCCTCTGGACGAGTTTTT	0.527																																						uc003wfj.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(679-681)TCC>TTC		zinc finger protein 425							80.0	84.0	82.0					7																	148802283		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148802283G>A	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.680C>T	7.37:g.148802283G>A	ENSP00000367300:p.Ser227Phe						p.S227F	NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	753	-	Melanoma(164;0.15)		227					B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.680C>T	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376154	0.24857	.	.	ENSG00000204947	ENST00000378061	T	0.08008	3.14	2.45	0.841	0.18918	.	.	.	.	.	T	0.03095	0.0091	N	0.08118	0	0.25993	N	0.982213	B	0.06786	0.001	B	0.04013	0.001	T	0.45659	-0.9246	9	0.02654	T	1	.	5.9123	0.19035	0.2919:0.0:0.7081:0.0	.	227	Q6IV72	ZN425_HUMAN	F	227	ENSP00000367300:S227F	ENSP00000367300:S227F	S	-	2	0	ZNF425	148433216	0.000000	0.05858	0.092000	0.20876	0.522000	0.34438	0.073000	0.14640	0.359000	0.24239	0.655000	0.94253	TCC		PASS	0.527	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		4	85	4	85	---	---	---	---
NOS3	4846	broad.mit.edu	37	7	150698429	150698429	+	Silent	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr7:150698429C>A	ENST00000484524.1	+	10	1344	c.1344C>A	c.(1342-1344)atC>atA	p.I448I	NOS3_ENST00000461406.1_Silent_p.I242I|NOS3_ENST00000297494.3_Silent_p.I448I|NOS3_ENST00000467517.1_Silent_p.I448I	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.I448I(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGCCTGGATCGTGCCCCCCA	0.622																																						uc003wif.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(5)|large_intestine(2)|skin(1)	8						c.(1342-1344)ATC>ATA		nitric oxide synthase 3 isoform 1	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						60.0	59.0	59.0					7																	150698429		2203	4300	6503	SO:0001819	synonymous_variant	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150698429C>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1344C>A	7.37:g.150698429C>A						NOS3_uc011kuy.1_Silent_p.I242I|NOS3_uc011kuz.1_Silent_p.I448I|NOS3_uc011kva.1_Silent_p.I448I|NOS3_uc011kvb.1_Silent_p.I448I	p.I448I	NM_000603	NP_000594	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	11	1640	+	all_neural(206;0.219)		448			Interaction with NOSIP.		Q495E5	Silent	SNP	ENST00000484524.1	37	c.1344C>A	CCDS55182.1																																																																																				PASS	0.622	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		28	79	28	79	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151842380	151842380	+	Splice_Site	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr7:151842380G>T	ENST00000262189.6	-	54	14250	c.14032C>A	c.(14032-14034)Ctt>Att	p.L4678I	KMT2C_ENST00000485655.2_5'Flank|KMT2C_ENST00000355193.2_Splice_Site_p.L4735I	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4678	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.L4678I(1)|p.L4735I(1)									ACCCCAGGAAGCTGAAAAGAA	0.488																																						uc003wla.2										N							medulloblastoma		2	Substitution - Missense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(14032-14034)CTT>ATT		myeloid/lymphoid or mixed-lineage leukemia 3							60.0	54.0	56.0					7																	151842380		2203	4300	6503	SO:0001630	splice_region_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151842380G>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.14032-1C>A	7.37:g.151842380G>T						MLL3_uc003wkz.2_Missense_Mutation_p.L3796I|MLL3_uc003wkx.2_Missense_Mutation_p.L836I|MLL3_uc003wky.2_Missense_Mutation_p.L2242I	p.L4678I	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	54	14251	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	4678			FYR C-terminal.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.14032C>A	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.031130|4.031130	0.75504|0.75504	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	T;T;T|.	0.58652|.	0.32;0.32;0.32|.	5.23|5.23	5.23|5.23	0.72850|0.72850	FY-rich, C-terminal (1);FY-rich, C-terminal subgroup (1);|.	0.000000|.	0.39544|.	U|.	0.001328|.	D|D	0.84479|0.84479	0.5481|0.5481	M|M	0.88570|0.88570	2.965|2.965	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.87578|.	0.998;0.996;0.996|.	D|D	0.86629|0.86629	0.1884|0.1884	10|5	0.72032|.	D|.	0.01|.	.|.	19.161|19.161	0.93531|0.93531	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4678;3796;4735|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	I|N	4678;4735;1295|2238	ENSP00000262189:L4678I;ENSP00000347325:L4735I;ENSP00000410411:L1295I|.	ENSP00000262189:L4678I|.	L|T	-|-	1|2	0|0	MLL3|MLL3	151473313|151473313	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.884000|0.884000	0.51177|0.51177	9.869000|9.869000	0.99810|0.99810	2.607000|2.607000	0.88179|0.88179	0.655000|0.655000	0.94253|0.94253	CTT|ACT		PASS	0.488	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		Missense_Mutation	3	69	3	69	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	13259053	13259053	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr8:13259053G>T	ENST00000276297.4	-	3	1508	c.1099C>A	c.(1099-1101)Cag>Aag	p.Q367K	DLC1_ENST00000316609.5_Missense_Mutation_p.Q367K|DLC1_ENST00000511869.1_Missense_Mutation_p.Q367K	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	367					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.Q367K(3)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCTATGTCCTGATCAAGCTGG	0.493																																						uc003wwm.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(1099-1101)CAG>AAG		deleted in liver cancer 1 isoform 1							185.0	149.0	161.0					8																	13259053		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13259053G>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1099C>A	8.37:g.13259053G>T	ENSP00000276297:p.Gln367Lys					DLC1_uc003wwn.2_Missense_Mutation_p.Q367K|DLC1_uc011kxy.1_Missense_Mutation_p.Q367K	p.Q367K	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			3	1543	-			367					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.1099C>A	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233781	0.79688	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.12039	3.63;2.72;2.74	5.49	5.49	0.81192	.	0.000000	0.40222	N	0.001158	T	0.22975	0.0555	L	0.29908	0.895	0.39438	D	0.967203	D;D;B	0.61697	0.99;0.99;0.243	P;P;B	0.57152	0.814;0.814;0.097	T	0.00643	-1.1630	10	0.59425	D	0.04	.	17.9289	0.88991	0.0:0.0:1.0:0.0	.	367;367;367	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	K	367	ENSP00000276297:Q367K;ENSP00000321034:Q367K;ENSP00000425878:Q367K	ENSP00000276297:Q367K	Q	-	1	0	DLC1	13303424	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	7.572000	0.82409	2.753000	0.94483	0.555000	0.69702	CAG		PASS	0.493	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		17	65	17	65	---	---	---	---
ADAM2	2515	broad.mit.edu	37	8	39613369	39613369	+	Nonsense_Mutation	SNP	T	T	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr8:39613369T>A	ENST00000265708.4	-	16	1778	c.1675A>T	c.(1675-1677)Aga>Tga	p.R559*	ADAM2_ENST00000521880.1_Intron|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000347580.4_Nonsense_Mutation_p.R540*|AC136365.1_ENST00000408091.1_RNA	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	559	Cys-rich.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R559*(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ATAGTGGCTCTTGGAATTTGT	0.308																																						uc003xnj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1675-1677)AGA>TGA		ADAM metallopeptidase domain 2 proprotein							70.0	73.0	72.0					8																	39613369		2202	4299	6501	SO:0001587	stop_gained	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39613369T>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1675A>T	8.37:g.39613369T>A	ENSP00000265708:p.Arg559*					ADAM2_uc003xnk.2_Nonsense_Mutation_p.R540*|ADAM2_uc011lck.1_Intron|ADAM2_uc003xnl.2_Intron	p.R559*	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	16	1750	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	559			Extracellular (Potential).|Cys-rich.		P78326|Q9UQQ8	Nonsense_Mutation	SNP	ENST00000265708.4	37	c.1675A>T	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.385889	0.82902	.	.	ENSG00000104755	ENST00000347580;ENST00000265708	.	.	.	4.04	-3.79	0.04320	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.027	0.47751	0.0:0.6632:0.0:0.3368	.	.	.	.	X	540;559	.	.	R	-	1	2	ADAM2	39732526	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.416000	0.01035	-0.567000	0.06046	-0.256000	0.11100	AGA		PASS	0.308	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		12	64	12	64	---	---	---	---
MRPL15	29088	broad.mit.edu	37	8	55060196	55060196	+	Missense_Mutation	SNP	G	G	C			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr8:55060196G>C	ENST00000260102.4	+	5	882	c.808G>C	c.(808-810)Gct>Cct	p.A270P		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	270					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.A270P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			CTTTGGTCTTGCTCCAGGATG	0.403																																						uc003xsa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(808-810)GCT>CCT		mitochondrial ribosomal protein L15 precursor							75.0	76.0	76.0					8																	55060196		2203	4300	6503	SO:0001583	missense	29088				translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	g.chr8:55060196G>C	AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"""Mitochondrial ribosomal proteins / large subunits"""	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.808G>C	8.37:g.55060196G>C	ENSP00000260102:p.Ala270Pro						p.A270P	NM_014175	NP_054894	Q9P015	RM15_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)		5	871	+		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	270					Q96Q54|Q9H0Y1	Missense_Mutation	SNP	ENST00000260102.4	37	c.808G>C	CCDS6158.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310800	0.40895	.	.	ENSG00000137547	ENST00000260102	T	0.64618	-0.11	5.33	4.45	0.53987	.	0.095169	0.64402	D	0.000001	T	0.49508	0.1561	L	0.27053	0.805	0.51012	D	0.999906	B	0.09022	0.002	B	0.10450	0.005	T	0.37502	-0.9703	10	0.25751	T	0.34	-43.0644	15.3806	0.74651	0.0:0.0:0.8595:0.1405	.	270	Q9P015	RM15_HUMAN	P	270	ENSP00000260102:A270P	ENSP00000260102:A270P	A	+	1	0	MRPL15	55222749	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.779000	0.62375	1.225000	0.43566	0.650000	0.86243	GCT		PASS	0.403	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1	NM_014175		15	67	15	67	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55537694	55537694	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr8:55537694G>A	ENST00000220676.1	+	4	1400	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	418					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.E418K(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCAAGTGGCTGAAACTTGCAG	0.453																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(1252-1254)GAA>AAA		retinitis pigmentosa RP1 protein							101.0	101.0	101.0					8																	55537694		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55537694G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1252G>A	8.37:g.55537694G>A	ENSP00000220676:p.Glu418Lys					RP1_uc011ldy.1_Intron	p.E418K	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1400	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	418						Missense_Mutation	SNP	ENST00000220676.1	37	c.1252G>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.661662	0.29515	.	.	ENSG00000104237	ENST00000220676	T	0.30448	1.53	5.15	3.33	0.38152	.	0.579188	0.16489	N	0.212166	T	0.28134	0.0694	M	0.62723	1.935	0.09310	N	1	B	0.28760	0.221	B	0.26517	0.07	T	0.30327	-0.9982	10	0.72032	D	0.01	.	5.4464	0.16537	0.0761:0.1467:0.6346:0.1426	.	418	P56715	RP1_HUMAN	K	418	ENSP00000220676:E418K	ENSP00000220676:E418K	E	+	1	0	RP1	55700247	0.992000	0.36948	0.049000	0.19019	0.607000	0.37147	2.406000	0.44557	0.562000	0.29204	0.650000	0.86243	GAA		PASS	0.453	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		14	87	14	87	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61777948	61777948	+	Missense_Mutation	SNP	A	A	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr8:61777948A>T	ENST00000423902.2	+	38	8929	c.8450A>T	c.(8449-8451)aAt>aTt	p.N2817I	CHD7_ENST00000524602.1_Missense_Mutation_p.N768I	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2817					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.N2817I(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGGCTGTTGAATAACCCTCTG	0.557																																						uc003xue.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(8449-8451)AAT>ATT		chromodomain helicase DNA binding protein 7							53.0	53.0	53.0					8																	61777948		2019	4171	6190	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61777948A>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.8450A>T	8.37:g.61777948A>T	ENSP00000392028:p.Asn2817Ile						p.N2817I	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		38	8927	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2817					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.8450A>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	15.45	2.836581	0.50951	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602	D;T	0.82433	-1.61;1.95	5.25	5.25	0.73442	.	0.139657	0.48767	D	0.000169	T	0.78991	0.4371	L	0.52573	1.65	0.42902	D	0.994238	P	0.50617	0.937	B	0.39706	0.307	T	0.82279	-0.0536	10	0.59425	D	0.04	-21.3317	15.1443	0.72637	1.0:0.0:0.0:0.0	.	2817	Q9P2D1	CHD7_HUMAN	I	2817;2817;768	ENSP00000392028:N2817I;ENSP00000437061:N768I	ENSP00000307304:N2817I	N	+	2	0	CHD7	61940502	1.000000	0.71417	0.581000	0.28614	0.978000	0.69477	4.314000	0.59166	1.978000	0.57642	0.482000	0.46254	AAT		PASS	0.557	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		4	15	4	15	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77690498	77690498	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr8:77690498G>T	ENST00000521891.2	+	4	3596	c.3148G>T	c.(3148-3150)Gcc>Tcc	p.A1050S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.A1024S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A1024S|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1024S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1024					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.A1050S(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)			TTACTACTGTGCCGTGTGTGA	0.507										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(3070-3072)GCC>TCC		zinc finger homeodomain 4							145.0	146.0	146.0					8																	77690498		2015	4171	6186	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77690498G>T		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.3148G>T	8.37:g.77690498G>T	ENSP00000430497:p.Ala1050Ser	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.A1050S|ZFHX4_uc003yaw.1_Missense_Mutation_p.A1024S	p.A1024S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		4	3457	+			1024			C2H2-type 7.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.3070G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282094	0.40394	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.22	5.22	0.72569	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);	0.000000	0.44097	U	0.000482	T	0.39332	0.1074	L	0.41961	1.31	0.52501	D	0.99995	P;P;P	0.43287	0.702;0.802;0.802	B;B;B	0.40677	0.182;0.225;0.337	T	0.08126	-1.0737	10	0.20519	T	0.43	.	19.3361	0.94319	0.0:0.0:1.0:0.0	.	1024;1024;1050	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	S	1050;1050;1024;1024;1024	ENSP00000430497:A1050S;ENSP00000399605:A1024S;ENSP00000050961:A1024S;ENSP00000430848:A1024S	ENSP00000050961:A1024S	A	+	1	0	ZFHX4	77853053	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.345000	0.72995	2.878000	0.98634	0.650000	0.86243	GCC		PASS	0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		49	136	49	136	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77764219	77764219	+	Missense_Mutation	SNP	C	C	A	rs538106022		TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr8:77764219C>A	ENST00000521891.2	+	10	5510	c.5062C>A	c.(5062-5064)Cca>Aca	p.P1688T	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1643T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1643T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1662T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1643	Gln-rich.				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.P1688T(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)			ACATCACCCACCACAGTCACC	0.418										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(4927-4929)CCA>ACA		zinc finger homeodomain 4							106.0	105.0	105.0					8																	77764219		2044	4225	6269	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764219C>A		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.5062C>A	8.37:g.77764219C>A	ENSP00000430497:p.Pro1688Thr	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.P1688T|ZFHX4_uc003yaw.1_Missense_Mutation_p.P1643T	p.P1643T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5314	+			1643					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4927C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	10.86	1.470269	0.26423	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.47177	0.85;0.89;0.86;0.86	4.14	3.23	0.37069	.	0.157526	0.29609	U	0.011675	T	0.30541	0.0768	N	0.22421	0.69	0.33766	D	0.6224	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.10450	0.002;0.005;0.004	T	0.32824	-0.9892	10	0.15499	T	0.54	.	11.3446	0.49552	0.3299:0.6701:0.0:0.0	.	1643;1643;1688	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	T	1688;1688;1643;1643;1662	ENSP00000430497:P1688T;ENSP00000399605:P1643T;ENSP00000050961:P1643T;ENSP00000430848:P1662T	ENSP00000050961:P1643T	P	+	1	0	ZFHX4	77926774	0.747000	0.28283	0.897000	0.35233	0.977000	0.68977	0.963000	0.29293	1.045000	0.40225	0.542000	0.68232	CCA		PASS	0.418	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		18	70	18	70	---	---	---	---
NBN	4683	broad.mit.edu	37	8	90965859	90965859	+	Silent	SNP	A	A	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr8:90965859A>G	ENST00000265433.3	-	11	1612	c.1458T>C	c.(1456-1458)tcT>tcC	p.S486S	NBN_ENST00000409330.1_Silent_p.S404S	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	486					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)	p.S486S(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AAAGAGAACAAGACGTTTCTA	0.353								Homologous recombination																														uc003yej.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|kidney(3)|lung(1)	7						c.(1456-1458)TCT>TCC	Direct_reversal_of_damage|Homologous_recombination	nibrin							51.0	47.0	48.0					8																	90965859		2203	4299	6502	SO:0001819	synonymous_variant	4683	Nijmegen_Breakage_syndrome			cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90965859A>G	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1458T>C	8.37:g.90965859A>G						NBN_uc003yei.1_Silent_p.S404S|NBN_uc011lgb.1_Silent_p.S486S	p.S486S	NM_002485	NP_002476	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		11	1568	-			486					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Silent	SNP	ENST00000265433.3	37	c.1458T>C	CCDS6249.1																																																																																				PASS	0.353	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		8	56	8	56	---	---	---	---
ESRP1	54845	broad.mit.edu	37	8	95677390	95677390	+	Missense_Mutation	SNP	A	A	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr8:95677390A>T	ENST00000433389.2	+	9	1087	c.897A>T	c.(895-897)aaA>aaT	p.K299N	ESRP1_ENST00000423620.2_Missense_Mutation_p.K299N|ESRP1_ENST00000454170.2_Missense_Mutation_p.K299N|ESRP1_ENST00000358397.5_Missense_Mutation_p.K299N	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	299	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)	p.K299N(2)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AGGTTTACAAAGCAACAGGTG	0.358																																						uc003ygq.3																		ESRP1/RAF1(4)	2	Substitution - Missense(2)		lung(2)	prostate(4)	4						c.(895-897)AAA>AAT		RNA binding motif protein 35A isoform 1							90.0	89.0	89.0					8																	95677390		1857	4108	5965	SO:0001583	missense	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95677390A>T	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.897A>T	8.37:g.95677390A>T	ENSP00000405738:p.Lys299Asn					ESRP1_uc003ygr.3_Missense_Mutation_p.K299N|ESRP1_uc003ygs.3_Missense_Mutation_p.K299N|ESRP1_uc003ygt.3_Missense_Mutation_p.K299N|ESRP1_uc003ygu.3_Missense_Mutation_p.K299N|ESRP1_uc003ygv.2_Missense_Mutation_p.K139N|ESRP1_uc003ygw.2_Missense_Mutation_p.K139N	p.K299N	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN			9	1080	+			299			RRM 1.		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.897A>T	CCDS47897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.45|19.45	3.829620|3.829620	0.71258|0.71258	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000522756;ENST00000517610|ENST00000519505	T;T;T;T;T;T|.	0.30182|.	1.54;3.32;3.32;1.54;1.54;3.32|.	5.34|5.34	2.98|2.98	0.34508|0.34508	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73544|0.73544	0.3600|0.3600	M|M	0.85542|0.85542	2.76|2.76	0.58432|0.58432	D|D	0.999995|0.999995	D;D;D;P;D;D|.	0.89917|.	1.0;1.0;1.0;0.928;1.0;1.0|.	D;D;D;P;D;D|.	0.83275|.	0.993;0.996;0.991;0.757;0.994;0.992|.	T|T	0.71721|0.71721	-0.4507|-0.4507	10|5	0.87932|.	D|.	0|.	-17.1168|-17.1168	8.8304|8.8304	0.35080|0.35080	0.7743:0.0:0.2257:0.0|0.7743:0.0:0.2257:0.0	.|.	299;299;299;299;299;299|.	D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1|.	.;.;.;.;.;ESRP1_HUMAN|.	N|C	299;299;299;299;82;158|165	ENSP00000407349:K299N;ENSP00000405738:K299N;ENSP00000351168:K299N;ENSP00000402766:K299N;ENSP00000428490:K82N;ENSP00000429125:K158N|.	ENSP00000351168:K299N|.	K|S	+|+	3|1	2|0	ESRP1|ESRP1	95746566|95746566	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	2.143000|2.143000	0.42187|0.42187	0.357000|0.357000	0.24183|0.24183	-0.468000|-0.468000	0.05107|0.05107	AAA|AGC		PASS	0.358	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		5	45	5	45	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	105010469	105010469	+	Missense_Mutation	SNP	G	G	C			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr8:105010469G>C	ENST00000436393.2	+	16	2676	c.2435G>C	c.(2434-2436)aGg>aCg	p.R812T	RIMS2_ENST00000507740.1_Missense_Mutation_p.R826T|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1096	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.R826T(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CATCATCACAGGGATGGCAGG	0.358										HNSCC(12;0.0054)																												uc003yls.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(2434-2436)AGG>ACG		regulating synaptic membrane exocytosis 2							122.0	107.0	112.0					8																	105010469		1879	4103	5982	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105010469G>C	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2435G>C	8.37:g.105010469G>C	ENSP00000390665:p.Arg812Thr	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.R826T|RIMS2_uc003ylq.2_Missense_Mutation_p.R826T|RIMS2_uc003ylr.2_Intron	p.R812T	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		16	2676	+			1096					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2435G>C		.	.	.	.	.	.	.	.	.	.	G	9.201	1.028420	0.19512	.	.	ENSG00000176406	ENST00000329869;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T	0.15603	2.51;2.41;2.75	4.81	4.81	0.61882	.	.	.	.	.	T	0.07593	0.0191	N	0.08118	0	0.80722	D	1	P;B	0.41597	0.756;0.114	B;B	0.36134	0.218;0.025	T	0.33803	-0.9854	9	0.10377	T	0.69	.	12.6515	0.56764	0.0:0.1669:0.8331:0.0	.	812;826	D6RA03;Q9UQ26-3	.;.	T	1049;826;826;812	ENSP00000423559:R826T;ENSP00000386228:R826T;ENSP00000390665:R812T	ENSP00000332184:R1049T	R	+	2	0	RIMS2	105079645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.031000	0.64134	2.496000	0.84212	0.650000	0.86243	AGG		PASS	0.358	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		36	84	36	84	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113237021	113237021	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr8:113237021G>T	ENST00000297405.5	-	71	11347	c.11103C>A	c.(11101-11103)aaC>aaA	p.N3701K	CSMD3_ENST00000352409.3_Missense_Mutation_p.N3631K|CSMD3_ENST00000343508.3_Missense_Mutation_p.N3661K|CSMD3_ENST00000455883.2_Missense_Mutation_p.N3532K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3701						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N3701K(1)|p.N3661K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGCAAACCGTGTTCAAGTTGG	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(11101-11103)AAC>AAA		CUB and Sushi multiple domains 3 isoform 1							376.0	315.0	336.0					8																	113237021		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113237021G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.11103C>A	8.37:g.113237021G>T	ENSP00000297405:p.Asn3701Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.N2903K|CSMD3_uc003ynt.2_Missense_Mutation_p.N3661K|CSMD3_uc011lhx.1_Missense_Mutation_p.N3532K	p.N3701K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			71	11262	-			3701			Cytoplasmic (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.11103C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141465	0.57044	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.28069	1.93;1.92;1.98;1.63;1.96	5.5	3.68	0.42216	.	0.000000	0.85682	D	0.000000	T	0.51568	0.1682	M	0.65498	2.005	0.45914	D	0.998757	D;D;P	0.76494	0.999;0.998;0.732	D;D;P	0.81914	0.995;0.99;0.458	T	0.56251	-0.8010	10	0.72032	D	0.01	.	12.8186	0.57679	0.1398:0.0:0.8602:0.0	.	3532;3701;3661	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	3661;3701;2971;3532;3631	ENSP00000345799:N3661K;ENSP00000297405:N3701K;ENSP00000341558:N2971K;ENSP00000412263:N3532K;ENSP00000343124:N3631K	ENSP00000297405:N3701K	N	-	3	2	CSMD3	113306197	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.281000	0.51685	1.458000	0.47871	0.591000	0.81541	AAC		PASS	0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		45	136	45	136	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113293558	113293558	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr8:113293558C>A	ENST00000297405.5	-	59	9597	c.9353G>T	c.(9352-9354)gGa>gTa	p.G3118V	CSMD3_ENST00000352409.3_Missense_Mutation_p.G3048V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3078V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2949V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3118	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G3118V(1)|p.G3078V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCTGTGGTTCCTGGGTTACC	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9352-9354)GGA>GTA		CUB and Sushi multiple domains 3 isoform 1							92.0	78.0	83.0					8																	113293558		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113293558C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9353G>T	8.37:g.113293558C>A	ENSP00000297405:p.Gly3118Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G2320V|CSMD3_uc003ynt.2_Missense_Mutation_p.G3078V|CSMD3_uc011lhx.1_Missense_Mutation_p.G2949V	p.G3118V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			59	9512	-			3118			Extracellular (Potential).|Sushi 23.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9353G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004902	0.93287	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	5.72	5.72	0.89469	Complement control module (2);Sushi/SCR/CCP (3);	0.071377	0.56097	D	0.000037	T	0.79387	0.4437	M	0.77103	2.36	0.80722	D	1	D;D;P	0.59357	0.981;0.985;0.919	D;D;P	0.67900	0.923;0.954;0.844	T	0.75439	-0.3317	10	0.28530	T	0.3	.	19.8765	0.96875	0.0:1.0:0.0:0.0	.	2949;3118;3078	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	3078;3118;2388;2949;3048	ENSP00000345799:G3078V;ENSP00000297405:G3118V;ENSP00000341558:G2388V;ENSP00000412263:G2949V;ENSP00000343124:G3048V	ENSP00000297405:G3118V	G	-	2	0	CSMD3	113362734	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.036000	0.70948	2.695000	0.91970	0.650000	0.86243	GGA		PASS	0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		20	47	20	47	---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116617174	116617174	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr8:116617174C>T	ENST00000220888.5	-	3	1142	c.983G>A	c.(982-984)gGg>gAg	p.G328E	TRPS1_ENST00000519674.1_Missense_Mutation_p.G328E|TRPS1_ENST00000519076.1_Missense_Mutation_p.G282E|TRPS1_ENST00000520276.1_Missense_Mutation_p.G332E|TRPS1_ENST00000395715.3_Missense_Mutation_p.G341E			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	328					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G341E(1)|p.G328E(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTTGGTGTTCCCTTGGCAATC	0.408									Langer-Giedion syndrome																													uc003ynz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(982-984)GGG>GAG		zinc finger transcription factor TRPS1							92.0	89.0	90.0					8																	116617174		1899	4118	6017	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116617174C>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.983G>A	8.37:g.116617174C>T	ENSP00000220888:p.Gly328Glu					TRPS1_uc011lhy.1_Missense_Mutation_p.G332E|TRPS1_uc003yny.2_Missense_Mutation_p.G341E|TRPS1_uc010mcy.2_Missense_Mutation_p.G328E	p.G328E	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		3	1442	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		328					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.983G>A		.	.	.	.	.	.	.	.	.	.	C	22.6	4.309475	0.81247	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	T;T;T;T;T	0.04360	3.64;3.64;3.64;3.64;3.64	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.13884	0.0336	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.02991	-1.1085	10	0.87932	D	0	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	332;328;341	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	E	341;328;282;332;328	ENSP00000379065:G341E;ENSP00000220888:G328E;ENSP00000428910:G282E;ENSP00000428680:G332E;ENSP00000429174:G328E	ENSP00000220888:G328E	G	-	2	0	TRPS1	116686349	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.840000	0.97914	0.655000	0.94253	GGG		PASS	0.408	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		26	80	26	80	---	---	---	---
TNFRSF11B	4982	broad.mit.edu	37	8	119941028	119941028	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr8:119941028G>T	ENST00000297350.4	-	3	919	c.541C>A	c.(541-543)Cac>Aac	p.H181N		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	181					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)	p.H181N(2)		breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ATGTTGTCGTGTGTTGCATTT	0.383																																						uc003yon.3																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)	2						c.(541-543)CAC>AAC		osteoprotegerin precursor							270.0	249.0	256.0					8																	119941028		2203	4300	6503	SO:0001583	missense	4982				apoptosis|skeletal system development		cytokine activity|receptor activity	g.chr8:119941028G>T	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.541C>A	8.37:g.119941028G>T	ENSP00000297350:p.His181Asn					TNFRSF11B_uc010mdc.1_RNA	p.H181N	NM_002546	NP_002537	O00300	TR11B_HUMAN	STAD - Stomach adenocarcinoma(47;0.00193)		3	864	-	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		181			TNFR-Cys 4.		B2R9A8|O60236|Q53FX6|Q9UHP4	Missense_Mutation	SNP	ENST00000297350.4	37	c.541C>A	CCDS6326.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897151	0.33535	.	.	ENSG00000164761	ENST00000297350	T	0.63255	-0.03	5.73	4.85	0.62838	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.321357	0.34676	N	0.003761	T	0.52980	0.1768	L	0.49350	1.555	0.27919	N	0.938306	B	0.25955	0.138	B	0.21708	0.036	T	0.46414	-0.9193	9	.	.	.	-26.3664	10.3389	0.43866	0.0694:0.0:0.7942:0.1364	.	181	O00300	TR11B_HUMAN	N	181	ENSP00000297350:H181N	.	H	-	1	0	TNFRSF11B	120010209	0.234000	0.23783	0.842000	0.33263	0.857000	0.48899	2.466000	0.45084	1.409000	0.46915	0.650000	0.86243	CAC		PASS	0.383	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			27	151	27	151	---	---	---	---
ASAP1	50807	broad.mit.edu	37	8	131130758	131130758	+	Nonsense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr8:131130758C>A	ENST00000518721.1	-	19	1998	c.1771G>T	c.(1771-1773)Gaa>Taa	p.E591*	ASAP1_ENST00000357668.1_Nonsense_Mutation_p.E591*	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	591					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.E591*(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AGCAGTGGTTCCATTAGCTCT	0.373																																						uc003yta.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)	4						c.(1771-1773)GAA>TAA		development and differentiation enhancing factor							117.0	107.0	110.0					8																	131130758		2203	4300	6503	SO:0001587	stop_gained	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131130758C>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1771G>T	8.37:g.131130758C>A	ENSP00000429900:p.Glu591*					ASAP1_uc003ysz.1_Nonsense_Mutation_p.E402*|ASAP1_uc011liw.1_Nonsense_Mutation_p.E584*	p.E591*	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			18	1799	-			591					B2RNV3	Nonsense_Mutation	SNP	ENST00000518721.1	37	c.1771G>T	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.511960|10.511960	0.99419|0.99419	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721|ENST00000524124;ENST00000519483	.|.	.|.	.|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.049089|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76499	.|0.3996	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74112	.|-0.3770	.|3	0.51188|.	T|.	0.08|.	.|.	19.1654|19.1654	0.93555|0.93555	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	594;591;591|411;4	.|.	ENSP00000344591:E594X|.	E|G	-|-	1|2	0|0	ASAP1|ASAP1	131199940|131199940	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	7.440000|7.440000	0.80464|0.80464	2.778000|2.778000	0.95560|0.95560	0.655000|0.655000	0.94253|0.94253	GAA|GGA		PASS	0.373	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		17	107	17	107	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139163751	139163751	+	Silent	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr8:139163751C>A	ENST00000395297.1	-	13	3137	c.2967G>T	c.(2965-2967)gtG>gtT	p.V989V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	989								p.V989V(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)			CGGAATGGGTCACAGTGGGGC	0.493										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)	9						c.(2965-2967)GTG>GTT		hypothetical protein LOC51059							101.0	88.0	93.0					8																	139163751		2203	4300	6503	SO:0001819	synonymous_variant	51059							g.chr8:139163751C>A	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.2967G>T	8.37:g.139163751C>A		HNSCC(54;0.14)				FAM135B_uc003yux.2_Silent_p.V890V|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Silent_p.V551V|FAM135B_uc003yvb.2_Silent_p.V551V	p.V989V	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	3138	-	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)		989					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.2967G>T	CCDS6375.2																																																																																				PASS	0.493	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		7	103	7	103	---	---	---	---
SLC1A1	6505	broad.mit.edu	37	9	4567684	4567684	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr9:4567684G>A	ENST00000262352.3	+	6	735	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	167					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.E167K(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	AACTAAGCGTGAAGAAGTGAA	0.383																																						uc003zij.1																			1	Substitution - Missense(1)		lung(1)		0						c.(499-501)GAA>AAA		solute carrier family 1, member 1	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)						105.0	93.0	97.0					9																	4567684		2203	4300	6503	SO:0001583	missense	6505				D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr9:4567684G>A		CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"""Solute carriers"""	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.499G>A	9.37:g.4567684G>A	ENSP00000262352:p.Glu167Lys					C9orf68_uc003zik.2_Intron	p.E167K	NM_004170	NP_004161	P43005	EAA3_HUMAN		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	6	735	+		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)	167			Extracellular (Potential).		O75587|Q5VZ24|Q8N199|Q9UEW2	Missense_Mutation	SNP	ENST00000262352.3	37	c.499G>A	CCDS6452.1	.	.	.	.	.	.	.	.	.	.	G	9.865	1.197324	0.22037	.	.	ENSG00000106688	ENST00000262352	T	0.53857	0.6	5.93	4.07	0.47477	.	0.435571	0.28544	N	0.014964	T	0.22704	0.0548	N	0.01771	-0.73	0.80722	D	1	B	0.11235	0.004	B	0.17979	0.02	T	0.12785	-1.0534	10	0.06236	T	0.91	.	11.5362	0.50639	0.068:0.1257:0.8064:0.0	.	167	P43005	EAA3_HUMAN	K	167	ENSP00000262352:E167K	ENSP00000262352:E167K	E	+	1	0	SLC1A1	4557684	1.000000	0.71417	0.988000	0.46212	0.861000	0.49209	2.975000	0.49281	0.820000	0.34516	0.561000	0.74099	GAA		PASS	0.383	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1			13	39	13	39	---	---	---	---
KIAA2026	158358	broad.mit.edu	37	9	5922375	5922375	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr9:5922375C>A	ENST00000399933.3	-	8	3620	c.3621G>T	c.(3619-3621)gaG>gaT	p.E1207D	KIAA2026_ENST00000381461.2_Missense_Mutation_p.E1177D	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1207								p.E1207D(1)|p.E382D(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTTTTCCTGCCTCACTCTGGC	0.458																																						uc003zjq.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(3619-3621)GAG>GAT		hypothetical protein LOC158358							107.0	104.0	105.0					9																	5922375		2024	4195	6219	SO:0001583	missense	158358							g.chr9:5922375C>A	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.3621G>T	9.37:g.5922375C>A	ENSP00000382815:p.Glu1207Asp					KIAA2026_uc010mht.2_Missense_Mutation_p.E382D	p.E1207D	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	3837	-		Acute lymphoblastic leukemia(23;0.158)	1207					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.3621G>T		.	.	.	.	.	.	.	.	.	.	C	6.389	0.439856	0.12104	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	4.99	-1.59	0.08453	.	0.090971	0.45867	D	0.000339	T	0.36441	0.0967	N	0.17082	0.46	0.09310	N	0.999991	D	0.76494	0.999	D	0.80764	0.994	T	0.33954	-0.9848	9	0.42905	T	0.14	-8.9688	10.9004	0.47049	0.0:0.3327:0.0:0.6673	.	1207	Q5HYC2	K2026_HUMAN	D	1207;1177	.	ENSP00000370870:E1177D	E	-	3	2	KIAA2026	5912375	0.000000	0.05858	0.979000	0.43373	0.823000	0.46562	-0.326000	0.07965	-0.134000	0.11516	-0.378000	0.06908	GAG		PASS	0.458	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		16	79	16	79	---	---	---	---
CTSL	1514	broad.mit.edu	37	9	90343291	90343291	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr9:90343291G>T	ENST00000343150.5	+	4	1266	c.376G>T	c.(376-378)Gtg>Ttg	p.V126L	CTSL_ENST00000342020.5_Missense_Mutation_p.V126L|CTSL_ENST00000495822.1_Intron|CTSL_ENST00000340342.6_Missense_Mutation_p.V126L			P07711	CATL1_HUMAN	cathepsin L	126					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)	p.V126L(1)|p.V126M(1)									GAAAGGCTACGTGACTCCTGT	0.478																																						uc004aph.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(3)	3						c.(376-378)GTG>TTG		cathepsin L1 preproprotein	Glucagon recombinant(DB00040)						58.0	54.0	55.0					9																	90343291		2203	4300	6503	SO:0001583	missense	1514				macrophage apoptosis|proteolysis	extracellular region|lysosome|nucleus	cysteine-type endopeptidase activity|histone binding	g.chr9:90343291G>T	X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"""Cathepsins"""	2537	protein-coding gene	gene with protein product		116880	"""cathepsin L1"""	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.376G>T	9.37:g.90343291G>T	ENSP00000345344:p.Val126Leu					CTSL1_uc004api.2_Missense_Mutation_p.V126L|CTSL1_uc004apj.2_Missense_Mutation_p.V71L|CTSL1_uc010mqh.2_Intron|CTSL1_uc004apk.2_Missense_Mutation_p.V126L|CTSL1_uc004apl.2_Missense_Mutation_p.V126L	p.V126L	NM_001912	NP_001903	P07711	CATL1_HUMAN			4	726	+			126					Q6IAV1|Q96QJ0	Missense_Mutation	SNP	ENST00000343150.5	37	c.376G>T	CCDS6675.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638899	0.87760	.	.	ENSG00000135047	ENST00000343150;ENST00000340342;ENST00000342020	D;D;D	0.89810	-2.57;-2.57;-2.57	4.51	3.62	0.41486	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94535	0.8240	M	0.90369	3.11	0.80722	D	1	D	0.69078	0.997	D	0.66196	0.942	D	0.95064	0.8198	10	0.87932	D	0	.	12.708	0.57073	0.0803:0.0:0.9197:0.0	.	126	P07711	CATL1_HUMAN	L	126	ENSP00000345344:V126L;ENSP00000365061:V126L;ENSP00000340470:V126L	ENSP00000365061:V126L	V	+	1	0	CTSL1	89533111	1.000000	0.71417	0.911000	0.35937	0.946000	0.59487	6.884000	0.75600	1.107000	0.41642	0.655000	0.94253	GTG		PASS	0.478	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052936.1	NM_001912		13	34	13	34	---	---	---	---
ACTL7A	10881	broad.mit.edu	37	9	111625376	111625376	+	Missense_Mutation	SNP	C	C	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr9:111625376C>G	ENST00000333999.3	+	1	774	c.774C>G	c.(772-774)aaC>aaG	p.N258K		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	258						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)	p.N258K(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCCTGCTGAACAGTGCGGGGA	0.572																																					Esophageal Squamous(177;1480 3591 17554)	uc004bdj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(772-774)AAC>AAG		actin-like 7A							44.0	42.0	43.0					9																	111625376		2203	4300	6503	SO:0001583	missense	10881					cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton	g.chr9:111625376C>G	BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.774C>G	9.37:g.111625376C>G	ENSP00000334300:p.Asn258Lys						p.N258K	NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN			1	774	+			258					B2RC83|Q5JSV0	Missense_Mutation	SNP	ENST00000333999.3	37	c.774C>G	CCDS6772.1	.	.	.	.	.	.	.	.	.	.	C	8.863	0.947297	0.18356	.	.	ENSG00000187003	ENST00000333999	D	0.93906	-3.31	5.69	1.49	0.22878	.	0.127745	0.35378	N	0.003241	D	0.85818	0.5785	L	0.28192	0.835	0.22571	N	0.99897	B	0.20261	0.043	B	0.19666	0.026	T	0.77928	-0.2404	10	0.87932	D	0	.	5.7551	0.18168	0.0:0.5938:0.145:0.2612	.	258	Q9Y615	ACL7A_HUMAN	K	258	ENSP00000334300:N258K	ENSP00000334300:N258K	N	+	3	2	ACTL7A	110665197	0.000000	0.05858	0.719000	0.30619	0.583000	0.36354	-1.118000	0.03280	0.818000	0.34468	0.655000	0.94253	AAC		PASS	0.572	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053570.1	NM_006687		7	38	7	38	---	---	---	---
FKBP15	23307	broad.mit.edu	37	9	115952794	115952794	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr9:115952794G>A	ENST00000238256.3	-	12	1247	c.1130C>T	c.(1129-1131)cCc>cTc	p.P377L		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	377					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)		p.P402L(1)|p.P377L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TGGAAGGATGGGCAGCATGGG	0.453																																						uc004bgs.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1129-1131)CCC>CTC		FK506 binding protein 15, 133kDa							66.0	64.0	65.0					9																	115952794		1913	4122	6035	SO:0001583	missense	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115952794G>A	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.1130C>T	9.37:g.115952794G>A	ENSP00000238256:p.Pro377Leu					FKBP15_uc010muu.1_Missense_Mutation_p.P441L|FKBP15_uc011lxc.1_5'Flank|FKBP15_uc011lxd.1_Missense_Mutation_p.P309L|FKBP15_uc010mut.1_Missense_Mutation_p.P245L|FKBP15_uc004bgt.2_Missense_Mutation_p.P377L	p.P377L	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN			12	1248	-			377					Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	c.1130C>T	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031517	0.93575	.	.	ENSG00000119321	ENST00000446284;ENST00000238256;ENST00000414250	T;T;T	0.48836	1.16;1.18;0.8	6.16	6.16	0.99307	.	.	.	.	.	T	0.69833	0.3155	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.993;0.999	T	0.70139	-0.4954	9	0.87932	D	0	-15.9121	18.3537	0.90348	0.0:0.0:1.0:0.0	.	377;377;377	Q5T1M5-2;Q5T1M5-3;Q5T1M5	.;.;FKB15_HUMAN	L	402;377;402	ENSP00000416158:P402L;ENSP00000238256:P377L;ENSP00000415733:P402L	ENSP00000238256:P377L	P	-	2	0	FKBP15	114992615	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.067000	0.93955	2.937000	0.99478	0.650000	0.86243	CCC		PASS	0.453	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		6	18	6	18	---	---	---	---
CERCAM	51148	broad.mit.edu	37	9	131186890	131186890	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr9:131186890G>T	ENST00000372838.4	+	5	1161	c.763G>T	c.(763-765)Gct>Tct	p.A255S	CERCAM_ENST00000372842.1_Missense_Mutation_p.A177S	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	255					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)		p.A177S(1)|p.A255S(1)		endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						CTGCCAGGCTGCTGGTGAGGA	0.562																																						uc004buz.3																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(763-765)GCT>TCT		cerebral endothelial cell adhesion molecule 1							112.0	91.0	99.0					9																	131186890		2203	4300	6503	SO:0001583	missense	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131186890G>T	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.763G>T	9.37:g.131186890G>T	ENSP00000361929:p.Ala255Ser					CERCAM_uc004buy.1_Missense_Mutation_p.A177S|CERCAM_uc010mxz.2_Missense_Mutation_p.A177S|CERCAM_uc010mya.1_Missense_Mutation_p.A96S	p.A255S	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN			5	1161	+			255					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	ENST00000372838.4	37	c.763G>T	CCDS6901.2	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354292	0.61293	.	.	ENSG00000167123	ENST00000372842;ENST00000420512;ENST00000372838;ENST00000413863	T;T;T	0.19938	2.11;2.11;2.11	5.25	5.25	0.73442	.	0.119123	0.56097	D	0.000032	T	0.14830	0.0358	N	0.16307	0.4	0.47511	D	0.999446	B	0.19331	0.035	B	0.18263	0.021	T	0.09100	-1.0690	10	0.20046	T	0.44	.	17.4023	0.87464	0.0:0.0:1.0:0.0	.	255	Q5T4B2	GT253_HUMAN	S	177;177;255;208	ENSP00000361933:A177S;ENSP00000416676:A177S;ENSP00000361929:A255S	ENSP00000361929:A255S	A	+	1	0	CERCAM	130226711	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.433000	0.59929	2.440000	0.82611	0.467000	0.42956	GCT		PASS	0.562	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174		23	57	23	57	---	---	---	---
USP20	10868	broad.mit.edu	37	9	132642449	132642449	+	Missense_Mutation	SNP	G	G	C			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr9:132642449G>C	ENST00000315480.4	+	25	2800	c.2642G>C	c.(2641-2643)gGa>gCa	p.G881A	USP20_ENST00000472108.1_3'UTR|USP20_ENST00000372429.3_Missense_Mutation_p.G881A|USP20_ENST00000358355.1_Missense_Mutation_p.G881A			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	881	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.G881A(3)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				AGCCTGTATGGAGGTGGCCCC	0.647																																						uc004bys.2																			3	Substitution - Missense(3)		lung(3)	lung(1)|breast(1)	2						c.(2641-2643)GGA>GCA		ubiquitin specific protease 20							43.0	54.0	50.0					9																	132642449		2088	4208	6296	SO:0001583	missense	10868				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132642449G>C	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.2642G>C	9.37:g.132642449G>C	ENSP00000313811:p.Gly881Ala					USP20_uc004byr.2_Missense_Mutation_p.G881A|USP20_uc004byt.1_Missense_Mutation_p.G881A|USP20_uc004byu.1_Missense_Mutation_p.G67A	p.G881A	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN			25	2853	+		Ovarian(14;0.00556)	881			DUSP 2.		Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	c.2642G>C	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566664	0.65651	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.34275	1.37;1.37;1.37	5.11	5.11	0.69529	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.049304	0.85682	D	0.000000	T	0.55033	0.1895	M	0.89030	3	0.80722	D	1	P	0.41710	0.76	P	0.45538	0.484	T	0.65977	-0.6037	10	0.72032	D	0.01	.	17.5407	0.87846	0.0:0.0:1.0:0.0	.	881	Q9Y2K6	UBP20_HUMAN	A	881	ENSP00000361506:G881A;ENSP00000313811:G881A;ENSP00000351122:G881A	ENSP00000313811:G881A	G	+	2	0	USP20	131682270	1.000000	0.71417	0.842000	0.33263	0.179000	0.23085	9.351000	0.97073	2.387000	0.81309	0.655000	0.94253	GGA		PASS	0.647	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			5	67	5	67	---	---	---	---
FUBP3	8939	broad.mit.edu	37	9	133488374	133488374	+	Silent	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr9:133488374G>T	ENST00000319725.9	+	5	381	c.306G>T	c.(304-306)cgG>cgT	p.R102R		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	102	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R102L(1)|p.R102R(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		AGATTTCACGGATTCAAGCAG	0.388																																						uc004bzr.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)	1						c.(304-306)CGG>CGT		far upstream element (FUSE) binding protein 3							119.0	112.0	114.0					9																	133488374		1832	4094	5926	SO:0001819	synonymous_variant	8939				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding	g.chr9:133488374G>T	U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.306G>T	9.37:g.133488374G>T						FUBP3_uc010mzd.1_Silent_p.R42R|FUBP3_uc004bzs.1_Silent_p.R15R	p.R102R	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000279)	5	414	+			102			KH 1.		A3KFK8|A3KFL0|Q92946|Q9BVB6	Silent	SNP	ENST00000319725.9	37	c.306G>T	CCDS43893.1																																																																																				PASS	0.388	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054666.1			7	58	7	58	---	---	---	---
FUBP3	8939	broad.mit.edu	37	9	133501800	133501800	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr9:133501800G>T	ENST00000319725.9	+	12	1100	c.1025G>T	c.(1024-1026)gGc>gTc	p.G342V		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	342					positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.G342V(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		AGAGGTCGTGGCCGTGGCGAC	0.607											OREG0019546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004bzr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1024-1026)GGC>GTC		far upstream element (FUSE) binding protein 3							39.0	47.0	44.0					9																	133501800		2075	4228	6303	SO:0001583	missense	8939				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding	g.chr9:133501800G>T	U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.1025G>T	9.37:g.133501800G>T	ENSP00000318177:p.Gly342Val		OREG0019546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1603	FUBP3_uc004bzs.1_Missense_Mutation_p.G255V	p.G342V	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000279)	12	1133	+			342					A3KFK8|A3KFL0|Q92946|Q9BVB6	Missense_Mutation	SNP	ENST00000319725.9	37	c.1025G>T	CCDS43893.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865193	0.91511	.	.	ENSG00000107164	ENST00000319725	T	0.56275	0.47	5.67	5.67	0.87782	.	0.195596	0.53938	D	0.000044	T	0.70631	0.3246	M	0.72353	2.195	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.62813	0.907;0.907	T	0.69800	-0.5047	10	0.45353	T	0.12	-15.6725	18.7612	0.91851	0.0:0.0:1.0:0.0	.	342;342	A3KFK8;Q96I24	.;FUBP3_HUMAN	V	342	ENSP00000318177:G342V	ENSP00000318177:G342V	G	+	2	0	FUBP3	132491621	1.000000	0.71417	0.974000	0.42286	0.830000	0.47004	9.862000	0.99564	2.677000	0.91161	0.655000	0.94253	GGC		PASS	0.607	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054666.1			10	24	10	24	---	---	---	---
LAMC3	10319	broad.mit.edu	37	9	133901760	133901760	+	Missense_Mutation	SNP	C	C	A	rs147423784		TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr9:133901760C>A	ENST00000361069.4	+	2	595	c.462C>A	c.(460-462)gaC>gaA	p.D154E	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	154	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.D154E(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GCCGCGCCGACGGCCCATGGG	0.652																																						uc004caa.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(460-462)GAC>GAA		laminin, gamma 3 precursor							40.0	45.0	43.0					9																	133901760		2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133901760C>A	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.462C>A	9.37:g.133901760C>A	ENSP00000354360:p.Asp154Glu						p.D154E	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	2	560	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	154			Laminin N-terminal.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.462C>A	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.400585	0.25291	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	T	0.81078	-1.45	5.68	-9.36	0.00629	Laminin, N-terminal (3);	0.409334	0.28724	N	0.014359	T	0.72906	0.3519	M	0.72894	2.215	0.09310	N	0.999996	B	0.28552	0.215	B	0.37943	0.261	T	0.63537	-0.6615	10	0.62326	D	0.03	.	5.6986	0.17869	0.0715:0.1916:0.4146:0.3223	.	154	Q9Y6N6	LAMC3_HUMAN	E	154	ENSP00000354360:D154E	ENSP00000325873:D154E	D	+	3	2	LAMC3	132891581	0.000000	0.05858	0.004000	0.12327	0.008000	0.06430	-5.108000	0.00150	-1.217000	0.02604	0.467000	0.42956	GAC		PASS	0.652	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		8	69	8	69	---	---	---	---
ITIH5	80760	broad.mit.edu	37	10	7683937	7683937	+	Silent	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr10:7683937C>T	ENST00000256861.6	-	3	330	c.252G>A	c.(250-252)gaG>gaA	p.E84E	ITIH5_ENST00000434980.1_5'Flank|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Silent_p.E84E|ITIH5_ENST00000397145.2_Silent_p.E84E	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	84	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E84E(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GCATCTGGAACTCAATGTCCT	0.478																																						uc001ijq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(2)	4						c.(250-252)GAG>GAA		inter-alpha trypsin inhibitor heavy chain							166.0	140.0	149.0					10																	7683937		2203	4300	6503	SO:0001819	synonymous_variant	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7683937C>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.252G>A	10.37:g.7683937C>T						ITIH5_uc001ijr.1_Silent_p.E84E	p.E84E	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			3	331	-			84			VIT.		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37	c.252G>A																																																																																					PASS	0.478	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		15	77	15	77	---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25684912	25684912	+	Missense_Mutation	SNP	C	C	A	rs145500194	byFrequency	TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr10:25684912C>A	ENST00000376351.3	+	3	1440	c.1081C>A	c.(1081-1083)Cct>Act	p.P361T	RN7SKP220_ENST00000410611.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	361					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P361T(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ATTCTATCATCCTGGAGTCTT	0.358													C|||	4	0.000798722	0.0	0.0	5008	,	,		16906	0.0		0.0	False		,,,				2504	0.0041					uc001isj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(1081-1083)CCT>ACT		G protein-coupled receptor 158 precursor		C	THR/PRO	1,4405	2.1+/-5.4	0,1,2202	133.0	117.0	123.0		1081	5.0	1.0	10	dbSNP_134	123	4,8596	3.7+/-12.6	0,4,4296	yes	missense	GPR158	NM_020752.2	38	0,5,6498	AA,AC,CC		0.0465,0.0227,0.0384	possibly-damaging	361/1216	25684912	5,13001	2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25684912C>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1081C>A	10.37:g.25684912C>A	ENSP00000365529:p.Pro361Thr						p.P361T	NM_020752	NP_065803	Q5T848	GP158_HUMAN			3	1141	+			361			Extracellular (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.1081C>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729458	0.69074	2.27E-4	4.65E-4	ENSG00000151025	ENST00000376351	T	0.71579	-0.58	4.99	4.99	0.66335	.	0.000000	0.56097	D	0.000031	T	0.81941	0.4929	M	0.83603	2.65	0.80722	D	1	P	0.46512	0.879	P	0.52031	0.688	D	0.85189	0.1008	10	0.72032	D	0.01	.	18.6364	0.91380	0.0:1.0:0.0:0.0	.	361	Q5T848	GP158_HUMAN	T	361	ENSP00000365529:P361T	ENSP00000365529:P361T	P	+	1	0	GPR158	25724918	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	5.317000	0.65822	2.463000	0.83235	0.467000	0.42956	CCT		PASS	0.358	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		7	30	7	30	---	---	---	---
GAD2	2572	broad.mit.edu	37	10	26559583	26559583	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr10:26559583C>A	ENST00000376261.3	+	10	1493	c.990C>A	c.(988-990)ttC>ttA	p.F330L	GAD2_ENST00000259271.3_Missense_Mutation_p.F330L	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	330					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.F330L(1)|p.F330F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTGTTCCTTTCCTCGTGAGTG	0.463																																						uc001isp.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|skin(1)	central_nervous_system(1)|skin(1)	2						c.(988-990)TTC>TTA		glutamate decarboxylase 2	L-Glutamic Acid(DB00142)						165.0	159.0	161.0					10																	26559583		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26559583C>A	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.990C>A	10.37:g.26559583C>A	ENSP00000365437:p.Phe330Leu					GAD2_uc001isq.2_Missense_Mutation_p.F330L	p.F330L	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN			10	1493	+			330					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.990C>A	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643304	0.67244	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.34072	1.38;1.38	5.61	2.75	0.32379	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.30603	0.0770	L	0.48642	1.525	0.80722	D	1	B	0.29716	0.255	B	0.34418	0.182	T	0.06752	-1.0809	10	0.21540	T	0.41	-19.0024	10.6952	0.45894	0.0:0.7538:0.0:0.2462	.	330	Q05329	DCE2_HUMAN	L	330	ENSP00000365437:F330L;ENSP00000259271:F330L	ENSP00000259271:F330L	F	+	3	2	GAD2	26599589	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.907000	0.39897	1.397000	0.46682	0.643000	0.83706	TTC		PASS	0.463	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		29	179	29	179	---	---	---	---
ZNF33A	7581	broad.mit.edu	37	10	38344909	38344909	+	Nonsense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr10:38344909C>A	ENST00000458705.2	+	5	2012	c.1854C>A	c.(1852-1854)taC>taA	p.Y618*	ZNF33A_ENST00000307441.9_Nonsense_Mutation_p.Y618*|ZNF33A_ENST00000374618.3_Nonsense_Mutation_p.Y619*|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Nonsense_Mutation_p.Y625*			Q06730	ZN33A_HUMAN	zinc finger protein 33A	618					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.Y618*(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AAGCCTTCTACCAGAAGTCAC	0.368																																						uc001izh.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1852-1854)TAC>TAA		zinc finger protein 33A isoform b							77.0	77.0	77.0					10																	38344909		2203	4300	6503	SO:0001587	stop_gained	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38344909C>A	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1854C>A	10.37:g.38344909C>A	ENSP00000387713:p.Tyr618*					ZNF33A_uc001izg.2_Nonsense_Mutation_p.Y619*|ZNF33A_uc010qev.1_Nonsense_Mutation_p.Y625*|ZNF33A_uc001izi.1_Intron	p.Y618*	NM_006974	NP_008905	Q06730	ZN33A_HUMAN			5	2032	+			618			C2H2-type 11.		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Nonsense_Mutation	SNP	ENST00000458705.2	37	c.1854C>A	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755997	0.49362	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	.	.	.	1.69	1.69	0.24217	.	0.216594	0.23513	N	0.047380	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	8.8982	0.35479	0.0:1.0:0.0:0.0	.	.	.	.	X	619;625;618;618	.	ENSP00000304268:Y618X	Y	+	3	2	ZNF33A	38384915	0.000000	0.05858	0.981000	0.43875	0.384000	0.30261	-4.799000	0.00184	0.902000	0.36520	0.313000	0.20887	TAC		PASS	0.368	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		10	86	10	86	---	---	---	---
PRKG1	5592	broad.mit.edu	37	10	54031115	54031115	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr10:54031115G>T	ENST00000401604.2	+	11	1328	c.1134G>T	c.(1132-1134)caG>caT	p.Q378H	PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.Q366H|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.Q96H|PRKG1_ENST00000373980.4_Missense_Mutation_p.Q393H			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	378	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)	p.Q393H(1)|p.Q378H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TTAAGGTCCAGTTGAAAAGTG	0.408																																						uc001jjm.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6						c.(1132-1134)CAG>CAT		protein kinase, cGMP-dependent, type I isoform							61.0	59.0	59.0					10																	54031115		2203	4300	6503	SO:0001583	missense	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:54031115G>T		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1134G>T	10.37:g.54031115G>T	ENSP00000384200:p.Gln378His					PRKG1_uc001jjo.2_Missense_Mutation_p.Q393H|PRKG1_uc009xow.1_Missense_Mutation_p.Q96H|uc001jjq.1_Intron	p.Q378H	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	11	1328	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	378			Protein kinase.		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	c.1134G>T	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771939	0.69992	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000332193	T;T;T	0.08102	3.13;3.13;3.13	5.1	4.2	0.49525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.058214	0.64402	D	0.000001	T	0.14013	0.0339	N	0.21282	0.65	0.80722	D	1	P;P;P	0.51147	0.908;0.942;0.629	P;P;B	0.58660	0.792;0.843;0.309	T	0.03249	-1.1056	10	0.72032	D	0.01	-10.9034	13.7945	0.63162	0.0758:0.0:0.9242:0.0	.	96;393;378	B3KSF3;Q13976-2;Q13976	.;.;KGP1_HUMAN	H	378;366;393;96	ENSP00000384200:Q378H;ENSP00000363097:Q366H;ENSP00000363092:Q393H	ENSP00000327642:Q96H	Q	+	3	2	PRKG1	53701121	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.490000	0.60319	1.287000	0.44583	0.551000	0.68910	CAG		PASS	0.408	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				13	38	13	38	---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	68139060	68139060	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr10:68139060G>T	ENST00000433211.2	-	12	1756	c.1582C>A	c.(1582-1584)Cag>Aag	p.Q528K	CTNNA3_ENST00000373744.4_Missense_Mutation_p.Q528K	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.Q528K(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TCAGCATCCTGGTCTCTTAAG	0.443																																						uc009xpn.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(1582-1584)CAG>AAG		catenin, alpha 3							126.0	125.0	125.0					10																	68139060		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68139060G>T	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1582C>A	10.37:g.68139060G>T	ENSP00000389714:p.Gln528Lys					CTNNA3_uc001jmw.2_Missense_Mutation_p.Q528K	p.Q528K	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			12	1705	-			528						Missense_Mutation	SNP	ENST00000433211.2	37	c.1582C>A	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.494995	0.26774	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.29397	1.57;1.57	5.77	5.77	0.91146	.	0.000000	0.51477	D	0.000092	T	0.10680	0.0261	N	0.01576	-0.805	0.80722	D	1	B	0.21905	0.062	B	0.21151	0.033	T	0.20672	-1.0268	10	0.02654	T	1	-13.0747	13.114	0.59289	0.0:0.1608:0.8392:0.0	.	528	Q9UI47	CTNA3_HUMAN	K	528	ENSP00000389714:Q528K;ENSP00000362849:Q528K	ENSP00000362849:Q528K	Q	-	1	0	CTNNA3	67809066	0.348000	0.24861	1.000000	0.80357	0.985000	0.73830	0.793000	0.26944	2.728000	0.93425	0.650000	0.86243	CAG		PASS	0.443	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		16	115	16	115	---	---	---	---
PDZD7	79955	broad.mit.edu	37	10	102782143	102782143	+	Splice_Site	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr10:102782143C>A	ENST00000370215.3	-	5	768		c.e5-1			NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7							cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.?(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CACATCCACCCTGGACAACAG	0.612																																						uc001kso.1																			2	Unknown(2)		lung(2)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.e5-1		PDZ domain containing 7							65.0	60.0	62.0					10																	102782143		2203	4300	6503	SO:0001630	splice_region_variant	79955					cilium|nucleus	protein binding	g.chr10:102782143C>A	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.543-1G>T	10.37:g.102782143C>A						PDZD7_uc001ksn.2_Splice_Site_p.W181_splice	p.W181_splice	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	5	758	-								D5FJ77|Q8N321	Splice_Site	SNP	ENST00000370215.3	37	c.543_splice	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.583341	0.65992	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9253	0.92541	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDZD7	102772133	1.000000	0.71417	0.999000	0.59377	0.587000	0.36485	7.783000	0.85696	2.479000	0.83701	0.462000	0.41574	.		PASS	0.612	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895	Intron	11	23	11	23	---	---	---	---
ABLIM1	3983	broad.mit.edu	37	10	116335269	116335269	+	Missense_Mutation	SNP	G	G	A	rs147888427		TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr10:116335269G>A	ENST00000277895.5	-	3	566	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C	ABLIM1_ENST00000533213.2_Missense_Mutation_p.R97C|ABLIM1_ENST00000369252.4_Missense_Mutation_p.R97C	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	157	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.R97C(1)|p.R157C(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CCATGGCAGCGTGTCCCGTAC	0.542																																						uc010qsg.1																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(469-471)CGC>TGC		actin-binding LIM protein 1 isoform a		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	150.0	119.0	130.0		289,289,469	5.6	1.0	10	dbSNP_134	130	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ABLIM1	NM_001003407.1,NM_001003408.1,NM_002313.5	180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	97/719,97/747,157/779	116335269	1,13005	2203	4300	6503	SO:0001583	missense	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116335269G>A	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.469C>T	10.37:g.116335269G>A	ENSP00000277895:p.Arg157Cys					ABLIM1_uc010qsh.1_Missense_Mutation_p.R97C|ABLIM1_uc010qsi.1_Missense_Mutation_p.R97C|ABLIM1_uc010qsk.1_Missense_Mutation_p.R81C|ABLIM1_uc009xyp.2_Missense_Mutation_p.R91C|ABLIM1_uc009xyo.2_Missense_Mutation_p.R5C	p.R157C	NM_002313	NP_002304	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	3	568	-		Colorectal(252;0.0373)|Breast(234;0.231)	157			LIM zinc-binding 2.		A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	c.469C>T	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	G	31	5.099437	0.94197	0.0	1.16E-4	ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369256;ENST00000369260;ENST00000277895	D;D;D	0.88201	-2.35;-2.35;-2.35	5.55	5.55	0.83447	Zinc finger, LIM-type (3);	0.000000	0.85682	D	0.000000	D	0.93893	0.8046	L	0.61387	1.9	0.80722	D	1	D;D;D;D;B;D	0.89917	0.999;1.0;1.0;1.0;0.135;1.0	P;D;D;D;B;D	0.85130	0.786;0.997;0.917;0.943;0.025;0.972	D	0.94130	0.7387	10	0.87932	D	0	.	19.4973	0.95079	0.0:0.0:1.0:0.0	.	81;97;97;157;97;81	B7Z4H1;F8W8M4;A6NKJ2;O14639;B3KVH2;C9K0X4	.;.;.;ABLM1_HUMAN;.;.	C	157;97;97;97;157;81;81;81;157	ENSP00000358256:R97C;ENSP00000433629:R97C;ENSP00000277895:R157C	ENSP00000277895:R157C	R	-	1	0	ABLIM1	116325259	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	8.031000	0.88826	2.608000	0.88229	0.655000	0.94253	CGC		PASS	0.542	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			16	90	16	90	---	---	---	---
VENTX	27287	broad.mit.edu	37	10	135053746	135053746	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr10:135053746G>T	ENST00000325980.9	+	3	1224	c.713G>T	c.(712-714)gGa>gTa	p.G238V		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	238					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.G238V(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CCTTCGCTGGGACCAGCCCTG	0.682																																						uc010quy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(712-714)GGA>GTA		VENT homeobox							12.0	14.0	13.0					10																	135053746		2136	4181	6317	SO:0001583	missense	27287				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135053746G>T	AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650		"""Homeoboxes / ANTP class : NKL subclass"""	13639	protein-coding gene	gene with protein product		607158	"""VENT-like homeobox 2"", ""VENT homeobox homolog (Xenopus laevis)"""	VENTX2		10790436	Standard	NM_014468		Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.713G>T	10.37:g.135053746G>T	ENSP00000357556:p.Gly238Val						p.G238V	NM_014468	NP_055283	O95231	VENTX_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)	3	724	+		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	238					Q32MZ3	Missense_Mutation	SNP	ENST00000325980.9	37	c.713G>T	CCDS7675.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746248	0.30955	.	.	ENSG00000151650	ENST00000325980	D	0.90788	-2.73	2.3	-0.972	0.10300	.	1.503030	0.04418	U	0.367156	D	0.83289	0.5222	N	0.19112	0.55	0.09310	N	0.999999	B	0.31290	0.318	B	0.33750	0.169	T	0.73026	-0.4112	10	0.72032	D	0.01	.	5.3071	0.15809	0.0:0.4248:0.3587:0.2165	.	238	O95231	VENTX_HUMAN	V	238	ENSP00000357556:G238V	ENSP00000357556:G238V	G	+	2	0	VENTX	134903736	0.005000	0.15991	0.001000	0.08648	0.051000	0.14879	0.182000	0.16900	-0.225000	0.09913	0.442000	0.29010	GGA		PASS	0.682	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051116.4	NM_014468		7	20	7	20	---	---	---	---
TUBGCP2	10844	broad.mit.edu	37	10	135095829	135095829	+	Missense_Mutation	SNP	C	C	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr10:135095829C>G	ENST00000252936.3	-	15	2346	c.2307G>C	c.(2305-2307)atG>atC	p.M769I	TUBGCP2_ENST00000368562.1_Missense_Mutation_p.M362I|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.M797I|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.M639I|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.M769I			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	769					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.M769I(1)		breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CATCTAATTTCATGCTCTGTG	0.582																																						uc001lmg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2305-2307)ATG>ATC		tubulin, gamma complex associated protein 2							20.0	24.0	23.0					10																	135095829		2199	4299	6498	SO:0001583	missense	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135095829C>G	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.2307G>C	10.37:g.135095829C>G	ENSP00000252936:p.Met769Ile					TUBGCP2_uc001lmf.1_Missense_Mutation_p.M362I|TUBGCP2_uc010qvc.1_Missense_Mutation_p.M797I|TUBGCP2_uc009ybk.1_Missense_Mutation_p.M792I|TUBGCP2_uc010qvd.1_Missense_Mutation_p.M639I|TUBGCP2_uc001lmh.1_RNA	p.M769I	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	16	2664	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	769					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	ENST00000252936.3	37	c.2307G>C	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.479743	0.26511	.	.	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000368562;ENST00000543663	T;T;T;T;T	0.29142	2.55;2.3;2.55;1.58;2.56	4.71	4.71	0.59529	.	0.137584	0.64402	D	0.000005	T	0.32436	0.0829	M	0.63428	1.95	0.58432	D	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.09292	-1.0681	10	0.21540	T	0.41	-41.9956	16.7941	0.85597	0.0:1.0:0.0:0.0	.	797;797;769	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	I	769;639;769;362;797	ENSP00000252936:M769I;ENSP00000395666:M639I;ENSP00000357551:M769I;ENSP00000357550:M362I;ENSP00000446093:M797I	ENSP00000252936:M769I	M	-	3	0	TUBGCP2	134945819	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	4.221000	0.58574	2.621000	0.88768	0.561000	0.74099	ATG		PASS	0.582	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			8	25	8	25	---	---	---	---
TNNT3	7140	broad.mit.edu	37	11	1950353	1950353	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr11:1950353C>A	ENST00000397301.1	+	8	127	c.119C>A	c.(118-120)aCc>aAc	p.T40N	TNNT3_ENST00000381561.4_Intron|TNNT3_ENST00000381579.3_Intron|TNNT3_ENST00000278317.6_Missense_Mutation_p.T29N|TNNT3_ENST00000381549.3_Intron|TNNT3_ENST00000381589.3_Intron|TNNT3_ENST00000381558.1_Intron|TNNT3_ENST00000397304.2_Intron|TNNT3_ENST00000446240.1_Intron|TNNT3_ENST00000360603.3_Intron|TNNT3_ENST00000381548.3_Missense_Mutation_p.T31N			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	40					ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)	p.T29N(1)		breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		CTGGAAGACACCGCAGAGGAG	0.672																																						uc001luu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(85-87)ACC>AAC		troponin T3, skeletal, fast isoform 1							105.0	109.0	108.0					11																	1950353		2202	4299	6501	SO:0001583	missense	7140				muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr11:1950353C>A	M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"""troponin-T3, skeletal, fast"""	600692	"""troponin T3, skeletal, fast"""			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000397301.1:c.119C>A	11.37:g.1950353C>A	ENSP00000380468:p.Thr40Asn					TNNT3_uc001lun.2_Intron|TNNT3_uc001luw.3_Intron|TNNT3_uc001luo.3_Intron|TNNT3_uc001lup.3_Intron|TNNT3_uc001luq.3_Intron|TNNT3_uc001lur.2_Intron|TNNT3_uc010qxf.1_Intron|TNNT3_uc010qxg.1_Intron|TNNT3_uc001lut.1_RNA|TNNT3_uc001lus.1_Intron	p.T29N	NM_006757	NP_006748	P45378	TNNT3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)	7	298	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	40					A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Missense_Mutation	SNP	ENST00000397301.1	37	c.86C>A		.	.	.	.	.	.	.	.	.	.	.	0.015	-1.569042	0.00895	.	.	ENSG00000130595	ENST00000278317;ENST00000397309;ENST00000381548;ENST00000397301	T;T;D	0.98701	2.94;2.96;-5.08	2.23	1.31	0.21738	.	415.663000	0.01886	U	0.038186	D	0.95551	0.8554	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.90756	0.4661	9	0.23302	T	0.38	-24.2286	5.0518	0.14513	0.0:0.8224:0.0:0.1776	.	29	P45378-2	.	N	29;41;31;40	ENSP00000278317:T29N;ENSP00000370960:T31N;ENSP00000380468:T40N	ENSP00000278317:T29N	T	+	2	0	TNNT3	1906929	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.114000	0.15520	0.489000	0.27749	-0.424000	0.05967	ACC		PASS	0.672	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3	NM_006757		36	120	36	120	---	---	---	---
ARNTL	406	broad.mit.edu	37	11	13397284	13397284	+	Missense_Mutation	SNP	A	A	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr11:13397284A>G	ENST00000403290.1	+	15	1655	c.1300A>G	c.(1300-1302)Att>Gtt	p.I434V	ARNTL_ENST00000389708.3_Missense_Mutation_p.I434V|ARNTL_ENST00000403510.3_Missense_Mutation_p.I390V|ARNTL_ENST00000401424.1_Missense_Mutation_p.I391V|ARNTL_ENST00000403482.3_Missense_Mutation_p.I432V|ARNTL_ENST00000389707.4_Missense_Mutation_p.I433V|ARNTL_ENST00000396441.3_Missense_Mutation_p.I433V|ARNTL_ENST00000361003.4_Missense_Mutation_p.I316V			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	434	PAC.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.I433V(1)		breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		AGTAGAATATATTGTCTCAAC	0.383																																						uc001mkr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1300-1302)ATT>GTT		aryl hydrocarbon receptor nuclear							110.0	92.0	98.0					11																	13397284		2200	4294	6494	SO:0001583	missense	406				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr11:13397284A>G	D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"""Basic helix-loop-helix proteins"""	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.1300A>G	11.37:g.13397284A>G	ENSP00000384517:p.Ile434Val					ARNTL_uc001mko.2_Missense_Mutation_p.I390V|ARNTL_uc001mkp.2_Missense_Mutation_p.I433V|ARNTL_uc001mkq.2_Missense_Mutation_p.I433V|ARNTL_uc001mks.2_Missense_Mutation_p.I391V|ARNTL_uc001mkt.2_Missense_Mutation_p.I434V|ARNTL_uc001mku.2_RNA|ARNTL_uc009ygm.1_Missense_Mutation_p.I273V|ARNTL_uc001mkw.2_Missense_Mutation_p.I391V|ARNTL_uc001mkx.2_Missense_Mutation_p.I432V|ARNTL_uc001mky.2_Translation_Start_Site	p.I434V	NM_001178	NP_001169	O00327	BMAL1_HUMAN		Epithelial(150;0.0243)	15	1708	+			434			PAC.		A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Missense_Mutation	SNP	ENST00000403290.1	37	c.1300A>G		.	.	.	.	.	.	.	.	.	.	A	26.2	4.712429	0.89112	.	.	ENSG00000133794	ENST00000396441;ENST00000389707;ENST00000401424;ENST00000403290;ENST00000361003;ENST00000389708;ENST00000403510;ENST00000339640;ENST00000403482	T;T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93	5.41	5.41	0.78517	PAS fold-3 (1);	0.058188	0.85682	D	0.000000	T	0.41719	0.1171	L	0.48260	1.515	0.80722	D	1	B;P;P;P;B;P	0.41131	0.386;0.694;0.694;0.593;0.365;0.739	P;P;P;P;P;P	0.56042	0.658;0.686;0.686;0.664;0.452;0.79	T	0.25572	-1.0128	10	0.72032	D	0.01	.	15.0996	0.72262	1.0:0.0:0.0:0.0	.	316;432;391;434;433;390	O00327-4;O00327-7;O00327-1;O00327;O00327-8;A2I2N6	.;.;.;BMAL1_HUMAN;.;.	V	433;433;391;434;316;434;390;390;432	ENSP00000379718:I433V;ENSP00000374357:I433V;ENSP00000385915:I391V;ENSP00000384517:I434V;ENSP00000354278:I316V;ENSP00000374358:I434V;ENSP00000385581:I390V;ENSP00000385897:I432V	ENSP00000340289:I390V	I	+	1	0	ARNTL	13353860	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	8.957000	0.93082	2.035000	0.60131	0.459000	0.35465	ATT		PASS	0.383	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	NM_001178		8	31	8	31	---	---	---	---
OR8I2	120586	broad.mit.edu	37	11	55861580	55861580	+	Nonsense_Mutation	SNP	C	C	A	rs116327084	byFrequency	TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr11:55861580C>A	ENST00000302124.2	+	1	828	c.797C>A	c.(796-798)tCg>tAg	p.S266*		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S266*(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AACACATCATCGCTGACCCAG	0.463																																						uc010rix.1																			1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(796-798)TCG>TAG		olfactory receptor, family 8, subfamily I,							108.0	104.0	106.0					11																	55861580		2201	4296	6497	SO:0001587	stop_gained	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861580C>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.797C>A	11.37:g.55861580C>A	ENSP00000303864:p.Ser266*						p.S266*	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			1	797	+	Esophageal squamous(21;0.00693)		266			Extracellular (Potential).		B2RNN4|Q6IFC0|Q96RC5	Nonsense_Mutation	SNP	ENST00000302124.2	37	c.797C>A	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	C	8.419	0.845998	0.16963	.	.	ENSG00000172154	ENST00000302124	.	.	.	4.33	3.38	0.38709	.	0.184926	0.26446	U	0.024326	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2432	6.601	0.22701	0.0:0.7304:0.0:0.2696	.	.	.	.	X	266	.	ENSP00000303864:S266X	S	+	2	0	OR8I2	55618156	0.000000	0.05858	0.753000	0.31225	0.240000	0.25518	0.047000	0.14056	2.115000	0.64714	0.440000	0.28878	TCG		PASS	0.463	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		27	80	27	80	---	---	---	---
YPEL4	219539	broad.mit.edu	37	11	57413813	57413813	+	Missense_Mutation	SNP	T	T	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr11:57413813T>A	ENST00000524669.1	-	4	2973	c.251A>T	c.(250-252)gAc>gTc	p.D84V	AP000662.4_ENST00000530595.1_RNA|YPEL4_ENST00000544993.1_Missense_Mutation_p.D84V|YPEL4_ENST00000531442.1_5'Flank|YPEL4_ENST00000534711.1_Missense_Mutation_p.D84V|YPEL4_ENST00000300022.3_Missense_Mutation_p.D84V			Q96NS1	YPEL4_HUMAN	yippee-like 4 (Drosophila)	84						nucleus (GO:0005634)		p.D84V(1)		lung(2)|skin(1)	3						ACAGAAAATGTCAGCTACCGA	0.562																																						uc001nkv.3																			1	Substitution - Missense(1)		lung(1)		0						c.(250-252)GAC>GTC		yippee-like 4							89.0	83.0	85.0					11																	57413813		2201	4296	6497	SO:0001583	missense	219539					nucleolus		g.chr11:57413813T>A	AK054775	CCDS7963.1	11q12	2008-02-05				ENSG00000166793			18328	protein-coding gene	gene with protein product		609725					Standard	NM_145008		Approved	FLJ30213	uc001nkv.4	Q96NS1		ENST00000524669.1:c.251A>T	11.37:g.57413813T>A	ENSP00000432648:p.Asp84Val					uc001nkt.1_Intron|YPEL4_uc009ymk.2_RNA	p.D84V	NM_145008	NP_659445	Q96NS1	YPEL4_HUMAN			4	695	-			84					B3KW92|Q2M3U7|Q65Z98	Missense_Mutation	SNP	ENST00000524669.1	37	c.251A>T	CCDS7963.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.886071	0.91814	.	.	ENSG00000166793	ENST00000524669;ENST00000300022;ENST00000544993;ENST00000534711	.	.	.	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000004	D	0.86818	0.6024	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90807	0.4698	9	0.87932	D	0	-7.618	14.735	0.69409	0.0:0.0:0.0:1.0	.	84	Q96NS1	YPEL4_HUMAN	V	84	.	ENSP00000300022:D84V	D	-	2	0	YPEL4	57170389	1.000000	0.71417	0.956000	0.39512	0.981000	0.71138	7.793000	0.85851	1.956000	0.56807	0.454000	0.30748	GAC		PASS	0.562	YPEL4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393370.1	NM_145008		7	88	7	88	---	---	---	---
OR6Q1	219952	broad.mit.edu	37	11	57799282	57799282	+	Silent	SNP	G	G	C			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr11:57799282G>C	ENST00000302622.3	+	1	881	c.858G>C	c.(856-858)acG>acC	p.T286T	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T286T(2)		biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CTGTTGTCACGCCCATGCTCA	0.473																																						uc010rjz.1																			2	Substitution - coding silent(2)		lung(2)	kidney(1)	1						c.(856-858)ACG>ACC		olfactory receptor, family 6, subfamily Q,							114.0	110.0	111.0					11																	57799282		2201	4296	6497	SO:0001819	synonymous_variant	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57799282G>C	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.858G>C	11.37:g.57799282G>C						OR9Q1_uc001nmj.2_Intron	p.T286T	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN			1	858	+		Breast(21;0.0707)|all_epithelial(135;0.142)	286			Helical; Name=7; (Potential).		B9EKW1|Q6IFH1|Q96R34	Silent	SNP	ENST00000302622.3	37	c.858G>C	CCDS31541.1																																																																																				PASS	0.473	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		25	193	25	193	---	---	---	---
EML3	256364	broad.mit.edu	37	11	62376917	62376917	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr11:62376917G>A	ENST00000394773.2	-	6	974	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	EML3_ENST00000494176.2_Missense_Mutation_p.R195C|EML3_ENST00000278845.4_Missense_Mutation_p.R224C|ROM1_ENST00000534093.1_5'Flank|EML3_ENST00000529309.1_Missense_Mutation_p.R223C|EML3_ENST00000438258.1_5'Flank|EML3_ENST00000531557.1_Missense_Mutation_p.R6C	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	223						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.R223C(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GTAATGGGGCGCCCTCGAAGG	0.582																																						uc001ntu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(667-669)CGC>TGC		echinoderm microtubule associated protein like							90.0	98.0	96.0					11																	62376917		2202	4299	6501	SO:0001583	missense	256364					cytoplasm|microtubule	protein binding	g.chr11:62376917G>A	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.667C>T	11.37:g.62376917G>A	ENSP00000378254:p.Arg223Cys					EML3_uc001ntr.1_Missense_Mutation_p.R195C|EML3_uc001nts.1_Missense_Mutation_p.R195C|EML3_uc001ntt.1_Missense_Mutation_p.R107C|EML3_uc010rly.1_Missense_Mutation_p.R223C|EML3_uc009yny.1_Missense_Mutation_p.R6C	p.R223C	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN			6	975	-			223					Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	c.667C>T	CCDS8023.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.755466|4.755466	0.89843|0.89843	.|.	.|.	ENSG00000149499|ENSG00000149499	ENST00000394776|ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309	.|T;T;T;T;T	.|0.35048	.|1.33;1.33;1.33;1.33;1.33	5.52|5.52	5.52|5.52	0.82312|0.82312	.|HELP (1);	.|0.056713	.|0.64402	.|D	.|0.000001	T|T	0.66426|0.66426	0.2788|0.2788	M|M	0.87827|0.87827	2.91|2.91	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|0.999;1.0;1.0;0.998;0.999	T|T	0.72364|0.72364	-0.4316|-0.4316	5|10	.|0.87932	.|D	.|0	-24.1964|-24.1964	16.9336|16.9336	0.86197|0.86197	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|223;223;6;224;195	.|Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0	.|.;EMAL3_HUMAN;.;.;.	V|C	217|223;224;6;195;223	.|ENSP00000378254:R223C;ENSP00000278845:R224C;ENSP00000433417:R6C;ENSP00000435064:R195C;ENSP00000434513:R223C	.|ENSP00000278845:R224C	A|R	-|-	2|1	0|0	EML3|EML3	62133493|62133493	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	9.214000|9.214000	0.95140|0.95140	2.590000|2.590000	0.87494|0.87494	0.563000|0.563000	0.77884|0.77884	GCG|CGC		PASS	0.582	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		21	104	21	104	---	---	---	---
HNRNPUL2	221092	broad.mit.edu	37	11	62487535	62487535	+	Silent	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr11:62487535C>T	ENST00000301785.5	-	10	1932	c.1740G>A	c.(1738-1740)gaG>gaA	p.E580E	HNRNPUL2-BSCL2_ENST00000403734.2_Silent_p.E580E	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	580						membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E580E(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CATCATCTCCCTCTACTTCCT	0.438																																						uc001nuw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1738-1740)GAG>GAA		heterogeneous nuclear ribonucleoprotein U-like							224.0	227.0	226.0					11																	62487535		1987	4149	6136	SO:0001819	synonymous_variant	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62487535C>T		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1740G>A	11.37:g.62487535C>T						HNRNPUL2_uc001nuu.1_RNA	p.E580E	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN			10	1933	-			580					Q8N3B3	Silent	SNP	ENST00000301785.5	37	c.1740G>A	CCDS41659.1																																																																																				PASS	0.438	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		6	224	6	224	---	---	---	---
IGHMBP2	3508	broad.mit.edu	37	11	68675734	68675734	+	Missense_Mutation	SNP	G	G	C			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr11:68675734G>C	ENST00000255078.3	+	3	489	c.378G>C	c.(376-378)ttG>ttC	p.L126F	IGHMBP2_ENST00000539224.1_Missense_Mutation_p.L126F	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	126					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)	p.L126F(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ATTTCCAGTTGAGCTTGGACC	0.502																																						uc001ook.1																			1	Substitution - Missense(1)		lung(1)		0						c.(376-378)TTG>TTC		immunoglobulin mu binding protein 2							129.0	123.0	125.0					11																	68675734		2200	4294	6494	SO:0001583	missense	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68675734G>C	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.378G>C	11.37:g.68675734G>C	ENSP00000255078:p.Leu126Phe					IGHMBP2_uc001ooj.1_RNA	p.L126F	NM_002180	NP_002171	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		3	480	+			126					A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.378G>C	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	G	9.233	1.036410	0.19669	.	.	ENSG00000132740	ENST00000255078;ENST00000539224	D;T	0.90563	-2.69;-0.25	4.09	3.18	0.36537	.	1.064340	0.07391	U	0.889052	D	0.89942	0.6861	M	0.63428	1.95	0.09310	N	1	P	0.50443	0.935	P	0.46110	0.504	T	0.78650	-0.2121	10	0.45353	T	0.12	-6.9617	7.7085	0.28663	0.1972:0.0:0.8028:0.0	.	126	P38935	SMBP2_HUMAN	F	126	ENSP00000255078:L126F;ENSP00000440465:L126F	ENSP00000255078:L126F	L	+	3	2	IGHMBP2	68432310	0.991000	0.36638	0.306000	0.25113	0.726000	0.41606	1.446000	0.35090	0.942000	0.37525	-0.272000	0.10252	TTG		PASS	0.502	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		21	117	21	117	---	---	---	---
IGHMBP2	3508	broad.mit.edu	37	11	68705714	68705714	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr11:68705714G>T	ENST00000255078.3	+	14	2787	c.2676G>T	c.(2674-2676)aaG>aaT	p.K892N		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	892					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)	p.K892N(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCGCCGTTAAGGCTGATAACA	0.627																																						uc001ook.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2674-2676)AAG>AAT		immunoglobulin mu binding protein 2							65.0	66.0	65.0					11																	68705714		2200	4294	6494	SO:0001583	missense	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68705714G>T	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.2676G>T	11.37:g.68705714G>T	ENSP00000255078:p.Lys892Asn					IGHMBP2_uc001ool.1_Missense_Mutation_p.K516N	p.K892N	NM_002180	NP_002171	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		14	2778	+			892					A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.2676G>T	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438939	0.43326	.	.	ENSG00000132740	ENST00000255078	T	0.46063	0.88	5.0	3.87	0.44632	Zinc finger, AN1-type (1);	0.419331	0.26122	N	0.026219	T	0.49440	0.1557	M	0.73319	2.225	0.80722	D	1	D	0.63880	0.993	P	0.53266	0.722	T	0.52403	-0.8580	10	0.59425	D	0.04	-17.4758	6.8058	0.23777	0.2604:0.0:0.7396:0.0	.	892	P38935	SMBP2_HUMAN	N	892	ENSP00000255078:K892N	ENSP00000255078:K892N	K	+	3	2	IGHMBP2	68462290	1.000000	0.71417	0.859000	0.33776	0.039000	0.13416	3.293000	0.51779	2.325000	0.78763	0.462000	0.41574	AAG		PASS	0.627	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		26	72	26	72	---	---	---	---
P2RY2	5029	broad.mit.edu	37	11	72946147	72946147	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr11:72946147C>T	ENST00000311131.2	+	3	1410	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	P2RY2_ENST00000393597.2_Missense_Mutation_p.R315C|P2RY2_ENST00000393596.2_Missense_Mutation_p.R315C	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	315					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)	p.R315C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GAGGCTCGTACGCTTTGCCCG	0.647																																						uc001otj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(943-945)CGC>TGC		purinergic receptor P2Y2	Suramin(DB04786)						54.0	46.0	49.0					11																	72946147		2200	4293	6493	SO:0001583	missense	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72946147C>T	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.943C>T	11.37:g.72946147C>T	ENSP00000310305:p.Arg315Cys					P2RY2_uc001otk.2_Missense_Mutation_p.R315C|P2RY2_uc001otl.2_Missense_Mutation_p.R315C	p.R315C	NM_002564	NP_002555	P41231	P2RY2_HUMAN			3	1276	+			315			Cytoplasmic (Potential).		B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	37	c.943C>T	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753020	0.31046	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.30981	1.51;1.51;1.51	3.56	2.54	0.30619	.	0.320646	0.30859	N	0.008722	T	0.49813	0.1579	M	0.85197	2.74	0.48135	D	0.999596	D	0.89917	1.0	P	0.60236	0.871	T	0.55860	-0.8074	10	0.87932	D	0	.	7.8387	0.29384	0.3297:0.6703:0.0:0.0	.	315	P41231	P2RY2_HUMAN	C	315	ENSP00000377222:R315C;ENSP00000310305:R315C;ENSP00000377221:R315C	ENSP00000310305:R315C	R	+	1	0	P2RY2	72623795	1.000000	0.71417	0.966000	0.40874	0.068000	0.16541	2.818000	0.48041	2.009000	0.58944	0.561000	0.74099	CGC		PASS	0.647	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		9	48	9	48	---	---	---	---
P2RY6	5031	broad.mit.edu	37	11	73007682	73007682	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr11:73007682G>T	ENST00000393590.2	+	2	418	c.119G>T	c.(118-120)gGc>gTc	p.G40V	P2RY6_ENST00000542092.1_Missense_Mutation_p.G40V|P2RY6_ENST00000538328.1_Missense_Mutation_p.G40V|P2RY6_ENST00000540124.1_Missense_Mutation_p.G40V|P2RY6_ENST00000393592.2_Missense_Mutation_p.G40V|P2RY6_ENST00000349767.2_Missense_Mutation_p.G40V|P2RY6_ENST00000540342.1_Missense_Mutation_p.G40V|P2RY6_ENST00000393591.1_Missense_Mutation_p.G40V	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	40					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|G-protein coupled receptor activity (GO:0004930)	p.G40V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						CTGGCGGCTGGCCTGCCGCTG	0.632																																						uc001otm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(118-120)GGC>GTC		pyrimidinergic receptor P2Y6							113.0	124.0	120.0					11																	73007682		2200	4293	6493	SO:0001583	missense	5031				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:73007682G>T		CCDS8220.1	11q13.5	2012-08-08				ENSG00000171631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8543	protein-coding gene	gene with protein product		602451				8670200	Standard	NM_176797		Approved	P2Y6	uc001otr.4	Q15077		ENST00000393590.2:c.119G>T	11.37:g.73007682G>T	ENSP00000377215:p.Gly40Val					P2RY6_uc001otn.2_Missense_Mutation_p.G40V|P2RY6_uc001oto.2_Missense_Mutation_p.G40V|P2RY6_uc001otp.2_Missense_Mutation_p.G40V|P2RY6_uc001otq.2_Missense_Mutation_p.G40V|P2RY6_uc001otr.2_Missense_Mutation_p.G40V|P2RY6_uc001ots.2_Missense_Mutation_p.G40V	p.G40V	NM_176796	NP_789766	Q15077	P2RY6_HUMAN			4	524	+			40			Helical; Name=1; (Potential).		Q15754	Missense_Mutation	SNP	ENST00000393590.2	37	c.119G>T	CCDS8220.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500335	0.85176	.	.	ENSG00000171631	ENST00000540342;ENST00000542092;ENST00000349767;ENST00000393592;ENST00000544437;ENST00000393591;ENST00000540124;ENST00000393590;ENST00000535931;ENST00000538328	T;T;T;T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.67785	0.2930	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72769	-0.4193	10	0.87932	D	0	.	16.265	0.82571	0.0:0.0:1.0:0.0	.	40	Q15077	P2RY6_HUMAN	V	40	ENSP00000443427:G40V;ENSP00000445652:G40V;ENSP00000309771:G40V;ENSP00000377217:G40V;ENSP00000441079:G40V;ENSP00000377216:G40V;ENSP00000442551:G40V;ENSP00000377215:G40V;ENSP00000440770:G40V;ENSP00000442990:G40V	ENSP00000309771:G40V	G	+	2	0	P2RY6	72685330	1.000000	0.71417	0.994000	0.49952	0.959000	0.62525	6.528000	0.73807	2.367000	0.80283	0.491000	0.48974	GGC		PASS	0.632	P2RY6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397349.1			70	180	70	180	---	---	---	---
DNAJB13	374407	broad.mit.edu	37	11	73681140	73681140	+	Missense_Mutation	SNP	G	G	T	rs369971791		TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr11:73681140G>T	ENST00000339764.1	+	8	1683	c.932G>T	c.(931-933)cGc>cTc	p.R311L	DNAJB13_ENST00000537753.1_Missense_Mutation_p.R136L|RP11-167N4.2_ENST00000537019.1_RNA|DNAJB13_ENST00000543947.1_Missense_Mutation_p.R136L	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	311					protein folding (GO:0006457)			p.R311L(1)		large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					CAGATGCTGCGCCAGGCATTG	0.617																																						uc001ouo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(931-933)CGC>CTC		testis spermatogenesis apoptosis-related protein							109.0	101.0	104.0					11																	73681140		2200	4293	6493	SO:0001583	missense	374407				apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding	g.chr11:73681140G>T	AF516185	CCDS8227.1	11q13.3	2011-09-02	2010-04-21		ENSG00000187726	ENSG00000187726		"""Heat shock proteins / DNAJ (HSP40)"""	30718	protein-coding gene	gene with protein product	"""radial spoke 16 homolog A (Chlamydomonas)"""	610263	"""DnaJ (Hsp40) related, subfamily B, member 13"""				Standard	NM_153614		Approved	TSARG6, RSPH16A	uc001ouo.3	P59910	OTTHUMG00000168093	ENST00000339764.1:c.932G>T	11.37:g.73681140G>T	ENSP00000344431:p.Arg311Leu						p.R311L	NM_153614	NP_705842	P59910	DJB13_HUMAN			8	1683	+	Breast(11;7.42e-05)		311					B3LEP4|Q8IZW5	Missense_Mutation	SNP	ENST00000339764.1	37	c.932G>T	CCDS8227.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383482	0.82792	.	.	ENSG00000187726	ENST00000339764;ENST00000537753;ENST00000543947	T;T;T	0.59224	0.28;0.73;0.73	5.54	4.43	0.53597	HSP40/DnaJ peptide-binding (1);	0.107964	0.64402	D	0.000012	T	0.64918	0.2642	M	0.70787	2.145	0.43808	D	0.996363	D	0.54772	0.968	P	0.52217	0.693	T	0.66296	-0.5959	9	.	.	.	.	12.154	0.54066	0.0954:0.0:0.9046:0.0	.	311	P59910	DJB13_HUMAN	L	311;136;136	ENSP00000344431:R311L;ENSP00000439711:R136L;ENSP00000438576:R136L	.	R	+	2	0	DNAJB13	73358788	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.532000	0.45659	2.619000	0.88677	0.644000	0.83932	CGC		PASS	0.617	DNAJB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398100.1	NM_153614		23	108	23	108	---	---	---	---
CNTN5	53942	broad.mit.edu	37	11	99715950	99715950	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr11:99715950C>A	ENST00000524871.1	+	6	823	c.533C>A	c.(532-534)aCt>aAt	p.T178N	CNTN5_ENST00000279463.3_Missense_Mutation_p.T178N|CNTN5_ENST00000418526.2_Missense_Mutation_p.T104N|CNTN5_ENST00000528682.1_Missense_Mutation_p.T178N|CNTN5_ENST00000527185.1_Missense_Mutation_p.T178N	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	178	Ig-like C2-type 1.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.T178N(4)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GCAACCAACACTGTGGGGAGT	0.348																																						uc001pga.2																			4	Substitution - Missense(4)		lung(4)	skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(532-534)ACT>AAT		contactin 5 isoform long							138.0	132.0	134.0					11																	99715950		1833	4105	5938	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99715950C>A	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.533C>A	11.37:g.99715950C>A	ENSP00000435637:p.Thr178Asn					CNTN5_uc009ywv.1_Missense_Mutation_p.T178N|CNTN5_uc001pfz.2_Missense_Mutation_p.T178N|CNTN5_uc001pgb.2_Missense_Mutation_p.T104N	p.T178N	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	6	872	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	178			Ig-like C2-type 1.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.533C>A	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	1.271	-0.612939	0.03690	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.8	2.81	0.32909	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.646823	0.16183	N	0.225730	T	0.49029	0.1533	N	0.21324	0.655	0.09310	N	1	B;B;B	0.18968	0.025;0.02;0.032	B;B;B	0.24394	0.023;0.014;0.053	T	0.33523	-0.9865	10	0.27082	T	0.32	.	7.944	0.29976	0.0:0.6138:0.2575:0.1287	.	178;104;178	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	N	178;178;178;104;178	ENSP00000433575:T178N;ENSP00000436185:T178N;ENSP00000435637:T178N;ENSP00000393229:T104N;ENSP00000279463:T178N	ENSP00000279463:T178N	T	+	2	0	CNTN5	99221160	0.675000	0.27558	0.423000	0.26634	0.257000	0.26127	1.221000	0.32503	0.756000	0.33013	-0.182000	0.12963	ACT		PASS	0.348	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		24	189	24	189	---	---	---	---
MMP1	4312	broad.mit.edu	37	11	102665947	102665947	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr11:102665947G>T	ENST00000315274.6	-	6	924	c.857C>A	c.(856-858)gCt>gAt	p.A286D	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	286					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A286D(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	CGTAGTTATAGCATCAAAGGT	0.408																																						uc001phi.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(856-858)GCT>GAT		matrix metalloproteinase 1 isoform 1							173.0	153.0	160.0					11																	102665947		2203	4299	6502	SO:0001583	missense	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102665947G>T	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.857C>A	11.37:g.102665947G>T	ENSP00000322788:p.Ala286Asp					uc001phh.1_RNA|MMP1_uc010ruv.1_Missense_Mutation_p.A220D	p.A286D	NM_002421	NP_002412	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	6	1000	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	286			Hemopexin-like 1.		P08156	Missense_Mutation	SNP	ENST00000315274.6	37	c.857C>A	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	g	19.09	3.760893	0.69763	.	.	ENSG00000196611	ENST00000315274	T	0.18338	2.22	5.73	5.73	0.89815	Hemopexin/matrixin (2);	0.000000	0.64402	D	0.000005	T	0.58278	0.2111	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70107	-0.4963	10	0.87932	D	0	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	286	P03956	MMP1_HUMAN	D	286	ENSP00000322788:A286D	ENSP00000322788:A286D	A	-	2	0	MMP1	102171157	1.000000	0.71417	0.968000	0.41197	0.006000	0.05464	7.245000	0.78237	2.861000	0.98227	0.655000	0.94253	GCT		PASS	0.408	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		14	102	14	102	---	---	---	---
OR6M1	390261	broad.mit.edu	37	11	123676798	123676798	+	Missense_Mutation	SNP	T	T	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr11:123676798T>G	ENST00000309154.2	-	1	297	c.260A>C	c.(259-261)gAg>gCg	p.E87A		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E87A(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TATGGTTTTCTCTTCTCCTAG	0.438																																						uc010rzz.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(259-261)GAG>GCG		olfactory receptor, family 6, subfamily M,							100.0	92.0	95.0					11																	123676798		2202	4299	6501	SO:0001583	missense	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123676798T>G	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.260A>C	11.37:g.123676798T>G	ENSP00000311038:p.Glu87Ala						p.E87A	NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	1	260	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	87			Extracellular (Potential).		B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	ENST00000309154.2	37	c.260A>C	CCDS31696.1	.	.	.	.	.	.	.	.	.	.	T	0.706	-0.789157	0.02884	.	.	ENSG00000196099	ENST00000309154	T	0.01295	5.04	3.57	-0.271	0.12922	GPCR, rhodopsin-like superfamily (1);	1.453820	0.05080	U	0.483271	T	0.01156	0.0038	N	0.13003	0.285	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48658	-0.9016	10	0.66056	D	0.02	.	3.1395	0.06451	0.1865:0.2432:0.0:0.5703	.	87	Q8NGM8	OR6M1_HUMAN	A	87	ENSP00000311038:E87A	ENSP00000311038:E87A	E	-	2	0	OR6M1	123182008	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.960000	0.03849	0.028000	0.15324	-0.327000	0.08410	GAG		PASS	0.438	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		9	59	9	59	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2693738	2693738	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr12:2693738C>A	ENST00000347598.4	+	16	2294	c.2294C>A	c.(2293-2295)gCc>gAc	p.A765D	CACNA1C_ENST00000480911.1_Missense_Mutation_p.A765D|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A765D|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A765D|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A765D|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A765D|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A765D|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A765D|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A765D|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A765D|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A765D|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A765D|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A765D|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A765D|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A765D|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A765D|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A765D|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A765D|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A765D|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A790D|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A765D|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A765D|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A765D	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	765					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A765D(3)|p.A300D(1)|p.A795D(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCACATCTGCCCaaaaggag	0.512																																						uc009zdu.1																			5	Substitution - Missense(5)		lung(5)	ovary(10)|central_nervous_system(1)	11						c.(2293-2295)GCC>GAC		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						66.0	71.0	70.0					12																	2693738		1979	4188	6167	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2693738C>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2294C>A	12.37:g.2693738C>A	ENSP00000266376:p.Ala765Asp					CACNA1C_uc009zdv.1_Missense_Mutation_p.A762D|CACNA1C_uc001qkb.2_Missense_Mutation_p.A765D|CACNA1C_uc001qkc.2_Missense_Mutation_p.A765D|CACNA1C_uc001qke.2_Missense_Mutation_p.A765D|CACNA1C_uc001qkf.2_Missense_Mutation_p.A765D|CACNA1C_uc001qjz.2_Missense_Mutation_p.A765D|CACNA1C_uc001qkd.2_Missense_Mutation_p.A765D|CACNA1C_uc001qkg.2_Missense_Mutation_p.A765D|CACNA1C_uc009zdw.1_Missense_Mutation_p.A765D|CACNA1C_uc001qkh.2_Missense_Mutation_p.A765D|CACNA1C_uc001qkl.2_Missense_Mutation_p.A765D|CACNA1C_uc001qkn.2_Missense_Mutation_p.A765D|CACNA1C_uc001qko.2_Missense_Mutation_p.A765D|CACNA1C_uc001qkp.2_Missense_Mutation_p.A765D|CACNA1C_uc001qkr.2_Missense_Mutation_p.A765D|CACNA1C_uc001qku.2_Missense_Mutation_p.A765D|CACNA1C_uc001qkq.2_Missense_Mutation_p.A765D|CACNA1C_uc001qks.2_Missense_Mutation_p.A765D|CACNA1C_uc001qkt.2_Missense_Mutation_p.A765D|CACNA1C_uc001qka.1_Missense_Mutation_p.A300D|CACNA1C_uc001qki.1_Missense_Mutation_p.A501D|CACNA1C_uc001qkj.1_Missense_Mutation_p.A501D|CACNA1C_uc001qkk.1_Missense_Mutation_p.A501D|CACNA1C_uc001qkm.1_Missense_Mutation_p.A501D|CACNA1C_uc001qkw.2_Missense_Mutation_p.A54D	p.A765D	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	16	2607	+			765			Cytoplasmic (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.2294C>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753250	0.89753	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96396	-3.91;-3.94;-4.0;-3.95;-3.96;-3.95;-3.94;-3.83;-3.88;-3.96;-3.89;-3.86;-3.94;-4.0;-3.88;-3.79;-4.0;-3.96;-3.95;-3.98;-3.9;-3.98;-4.0	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.97698	0.9245	M	0.69463	2.115	0.80722	D	1	D;D;B;D;D;D;D;D;B;B;D;D;B;D;D;D;D;B;D;B;D;D;D;D;D;D	0.89917	1.0;1.0;0.115;0.999;1.0;1.0;1.0;1.0;0.182;0.096;1.0;1.0;0.01;0.999;0.999;1.0;1.0;0.095;1.0;0.193;1.0;1.0;1.0;1.0;0.999;1.0	D;D;B;D;D;D;D;D;B;B;D;D;B;D;D;D;D;B;D;B;D;D;D;D;D;D	0.91635	0.998;0.983;0.067;0.991;0.998;0.999;0.998;0.999;0.17;0.072;0.999;0.998;0.02;0.999;0.996;0.998;0.996;0.072;0.999;0.112;0.996;0.999;0.999;0.998;0.994;0.998	D	0.98154	1.0443	10	0.56958	D	0.05	.	17.8449	0.88727	0.0:1.0:0.0:0.0	.	765;762;765;765;765;765;765;765;765;765;765;765;736;765;765;765;765;765;765;765;765;765;765;765;765;765	Q13936-14;Q13936-35;Q13936;E9PDI6;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	D	790;765;765;765;765;765;765;765;765;765;765;765;765;765;765;765;765;765;765;765;765;765;765;606	ENSP00000336982:A790D;ENSP00000382563:A765D;ENSP00000437936:A765D;ENSP00000382552:A765D;ENSP00000382547:A765D;ENSP00000382506:A765D;ENSP00000382530:A765D;ENSP00000382546:A765D;ENSP00000382500:A765D;ENSP00000382549:A765D;ENSP00000266376:A765D;ENSP00000382515:A765D;ENSP00000382510:A765D;ENSP00000341092:A765D;ENSP00000382537:A765D;ENSP00000329877:A765D;ENSP00000382557:A765D;ENSP00000385724:A765D;ENSP00000382512:A765D;ENSP00000382542:A765D;ENSP00000382526:A765D;ENSP00000385896:A765D;ENSP00000382504:A765D	ENSP00000323129:A606D	A	+	2	0	CACNA1C	2563999	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.651000	0.83577	2.452000	0.82932	0.561000	0.74099	GCC		PASS	0.512	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		24	33	24	33	---	---	---	---
APOBEC1	339	broad.mit.edu	37	12	7805379	7805379	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr12:7805379G>A	ENST00000229304.4	-	3	117	c.97C>T	c.(97-99)Cgt>Tgt	p.R33C		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	33					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R33C(1)		kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						GCCTCTTTACGAAGTTCTCTG	0.473																																					Pancreas(135;929 1826 4531 10527 41012)	uc001qtb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(97-99)CGT>TGT		apolipoprotein B mRNA editing enzyme							45.0	47.0	46.0					12																	7805379		2203	4297	6500	SO:0001583	missense	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7805379G>A	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.97C>T	12.37:g.7805379G>A	ENSP00000229304:p.Arg33Cys					APOBEC1_uc001qtc.2_5'UTR|APOBEC1_uc010sgf.1_Missense_Mutation_p.R33C	p.R33C	NM_001644	NP_001635	P41238	ABEC1_HUMAN			3	131	-			33					Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	c.97C>T	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	G	5.410	0.260754	0.10239	.	.	ENSG00000111701	ENST00000229304	T	0.65178	-0.14	4.48	1.32	0.21799	APOBEC-like, N-terminal (1);	0.126074	0.35838	N	0.002945	T	0.52885	0.1762	M	0.65975	2.015	0.19575	N	0.999963	B	0.17268	0.021	B	0.10450	0.005	T	0.49844	-0.8896	10	0.56958	D	0.05	-6.5114	4.12	0.10101	0.2167:0.0:0.6063:0.1771	.	33	P41238	ABEC1_HUMAN	C	33	ENSP00000229304:R33C	ENSP00000229304:R33C	R	-	1	0	APOBEC1	7696646	0.022000	0.18835	0.011000	0.14972	0.219000	0.24729	1.555000	0.36277	0.035000	0.15519	-0.448000	0.05591	CGT		PASS	0.473	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		16	93	16	93	---	---	---	---
KLRC3	3823	broad.mit.edu	37	12	10568344	10568344	+	Missense_Mutation	SNP	G	G	T	rs569300623		TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr12:10568344G>T	ENST00000396439.2	-	6	681	c.637C>A	c.(637-639)Cgt>Agt	p.R213S	KLRC3_ENST00000381903.2_Missense_Mutation_p.R213S|KLRC3_ENST00000381904.2_Missense_Mutation_p.R213S|NKG2-E_ENST00000539033.1_Missense_Mutation_p.R213S	NM_002261.2	NP_002252.2	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C, member 3	213	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.R213C(1)|p.R213S(1)		large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						ATAAGTCCACGTACATGTAGC	0.363													g|||	1	0.000199681	0.0	0.0	5008	,	,		18580	0.0		0.0	False		,,,				2504	0.001					uc001qyf.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)|skin(1)	3						c.(637-639)CGT>AGT		killer cell lectin-like receptor subfamily C,							125.0	106.0	112.0					12																	10568344		2203	4300	6503	SO:0001583	missense	3823				cellular defense response	integral to membrane	sugar binding|transmembrane receptor activity	g.chr12:10568344G>T	L14542	CCDS31744.1, CCDS41755.1	12p13	2008-08-05			ENSG00000205810	ENSG00000205810		"""Killer cell lectin-like receptors"""	6376	protein-coding gene	gene with protein product		602892				9598306	Standard	NM_002261		Approved	NKG2-E	uc001qyi.1	Q07444	OTTHUMG00000167149	ENST00000396439.2:c.637C>A	12.37:g.10568344G>T	ENSP00000379716:p.Arg213Ser					KLRC3_uc001qyh.2_Missense_Mutation_p.R213S|KLRC3_uc001qyi.1_Missense_Mutation_p.R213S	p.R213S	NM_002261	NP_002252	Q07444	NKG2E_HUMAN			6	682	-			213			C-type lectin.|Extracellular (Potential).		Q8WXA4|Q96RL0|Q9UP04	Missense_Mutation	SNP	ENST00000396439.2	37	c.637C>A	CCDS41755.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.051384	0.00038	.	.	ENSG00000255641;ENSG00000205810;ENSG00000205810;ENSG00000205810	ENST00000539033;ENST00000396439;ENST00000381904;ENST00000381903	T;T;T;T	0.06687	3.27;3.27;3.27;3.27	2.48	-4.97	0.03029	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	3.389020	0.00953	N	0.002996	T	0.03739	0.0106	N	0.11131	0.1	0.09310	N	1	B;B;B	0.15141	0.002;0.002;0.012	B;B;B	0.11329	0.005;0.004;0.006	T	0.39231	-0.9624	10	0.07030	T	0.85	.	2.0257	0.03519	0.1176:0.3562:0.2454:0.2808	.	213;213;213	Q07444-2;F5H6K3;Q07444	.;.;NKG2E_HUMAN	S	213	ENSP00000437563:R213S;ENSP00000379716:R213S;ENSP00000371329:R213S;ENSP00000371328:R213S	ENSP00000371328:R213S	R	-	1	0	KLRC3;RP11-277P12.6	10459611	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.807000	0.00183	-6.924000	0.00002	-3.083000	0.00065	CGT		PASS	0.363	KLRC3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393471.1	NM_002261		36	42	36	42	---	---	---	---
PDZRN4	29951	broad.mit.edu	37	12	41967075	41967075	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr12:41967075C>T	ENST00000402685.2	+	10	2502	c.2494C>T	c.(2494-2496)Cct>Tct	p.P832S	PDZRN4_ENST00000539469.2_Missense_Mutation_p.P574S|PDZRN4_ENST00000298919.7_Missense_Mutation_p.P572S	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	832							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P574S(1)|p.P832S(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TTACCTCTCTCCTTACCACAG	0.468																																						uc010skn.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(1897-1899)CCT>TCT		PDZ domain containing RING finger 4 isoform 2							157.0	162.0	160.0					12																	41967075		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41967075C>T	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2494C>T	12.37:g.41967075C>T	ENSP00000384197:p.Pro832Ser					PDZRN4_uc001rmq.3_Missense_Mutation_p.P574S|PDZRN4_uc009zjz.2_Missense_Mutation_p.P572S|PDZRN4_uc001rmr.2_Missense_Mutation_p.P459S	p.P633S	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			10	1965	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	832					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1897C>T	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989074	0.35131	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.38560	1.13;1.13;1.13	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000001	T	0.40473	0.1118	L	0.57536	1.79	0.80722	D	1	P;B;B	0.36027	0.533;0.006;0.013	B;B;B	0.31614	0.133;0.042;0.042	T	0.25779	-1.0122	10	0.23891	T	0.37	-19.3287	19.3581	0.94422	0.0:1.0:0.0:0.0	.	832;572;574	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	S	832;574;572	ENSP00000384197:P832S;ENSP00000439990:P574S;ENSP00000298919:P572S	ENSP00000298919:P572S	P	+	1	0	PDZRN4	40253342	0.998000	0.40836	0.998000	0.56505	0.870000	0.49936	7.320000	0.79064	2.741000	0.93983	0.650000	0.86243	CCT		PASS	0.468	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		45	122	45	122	---	---	---	---
TMEM117	84216	broad.mit.edu	37	12	44770376	44770376	+	Splice_Site	SNP	A	A	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr12:44770376A>G	ENST00000266534.3	+	7	895		c.e7-1		TMEM117_ENST00000546978.1_Splice_Site|TMEM117_ENST00000551577.1_Intron|TMEM117_ENST00000536799.1_Splice_Site	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TTTCTCTGACAGGACTGGGAA	0.353																																						uc001rod.2																			1	Unknown(1)		lung(1)		0						c.e7-2		transmembrane protein 117							121.0	115.0	117.0					12																	44770376		2203	4300	6503	SO:0001630	splice_region_variant	84216					endoplasmic reticulum|integral to membrane		g.chr12:44770376A>G	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.769-1A>G	12.37:g.44770376A>G						TMEM117_uc001roe.2_Splice_Site_p.D153_splice|TMEM117_uc009zkc.2_Intron	p.D257_splice	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN		GBM - Glioblastoma multiforme(48;0.124)	7	835	+	Lung SC(27;0.192)								Splice_Site	SNP	ENST00000266534.3	37	c.769_splice	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.340609	0.81911	.	.	ENSG00000139173	ENST00000266534;ENST00000536799;ENST00000417623	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7287	0.77784	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM117	43056643	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.718000	0.91430	2.168000	0.68352	0.533000	0.62120	.		PASS	0.353	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256	Intron	20	100	20	100	---	---	---	---
TMEM117	84216	broad.mit.edu	37	12	44770378	44770378	+	Splice_Site	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr12:44770378G>T	ENST00000266534.3	+	7	896	c.769G>T	c.(769-771)Gac>Tac	p.D257Y	TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_Intron|TMEM117_ENST00000536799.1_Splice_Site_p.D153Y	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	257						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.D257Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TCTCTGACAGGACTGGGAATT	0.353																																						uc001rod.2																			1	Substitution - Missense(1)		lung(1)		0						c.(769-771)GAC>TAC		transmembrane protein 117							122.0	117.0	119.0					12																	44770378		2203	4300	6503	SO:0001630	splice_region_variant	84216					endoplasmic reticulum|integral to membrane		g.chr12:44770378G>T	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.769-1G>T	12.37:g.44770378G>T						TMEM117_uc001roe.2_Missense_Mutation_p.D153Y|TMEM117_uc009zkc.2_Intron	p.D257Y	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN		GBM - Glioblastoma multiforme(48;0.124)	7	835	+	Lung SC(27;0.192)		257			Helical; (Potential).			Missense_Mutation	SNP	ENST00000266534.3	37	c.769G>T	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664112	0.88251	.	.	ENSG00000139173	ENST00000266534;ENST00000536799;ENST00000417623	T;T	0.58797	0.31;0.31	5.4	5.4	0.78164	.	0.087330	0.85682	D	0.000000	T	0.74711	0.3752	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.72649	-0.4229	9	.	.	.	-20.6035	19.5444	0.95285	0.0:0.0:1.0:0.0	.	153;257	F5H3Q2;Q9H0C3	.;TM117_HUMAN	Y	257;153;5	ENSP00000266534:D257Y;ENSP00000445243:D153Y	.	D	+	1	0	TMEM117	43056645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.216000	0.95154	2.683000	0.91414	0.655000	0.94253	GAC		PASS	0.353	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256	Missense_Mutation	21	100	21	100	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46243515	46243515	+	Missense_Mutation	SNP	G	G	T	rs150280339		TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr12:46243515G>T	ENST00000334344.6	+	14	2040	c.1868G>T	c.(1867-1869)cGt>cTt	p.R623L	ARID2_ENST00000444670.1_Missense_Mutation_p.R233L|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.R474L	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	623					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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.R623fs*24(1)|p.R623L(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCTGTTGTTCGTGTTGATTCT	0.383			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1				Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					2	Substitution - Missense(1)|Deletion - Frameshift(1)		lung(1)|autonomic_ganglia(1)	ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(1867-1869)CGT>CTT		AT rich interactive domain 2 (ARID, RFX-like)							340.0	313.0	322.0					12																	46243515		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46243515G>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1868G>T	12.37:g.46243515G>T	ENSP00000335044:p.Arg623Leu					ARID2_uc001ror.2_Missense_Mutation_p.R623L|ARID2_uc009zkg.1_Missense_Mutation_p.R79L|ARID2_uc009zkh.1_Missense_Mutation_p.R250L|ARID2_uc001rou.1_5'Flank	p.R623L	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	14	1868	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	623					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.1868G>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774134	0.49786	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T	0.33654	1.4	5.91	5.91	0.95273	.	0.114681	0.64402	D	0.000015	T	0.38612	0.1047	L	0.27053	0.805	0.80722	D	1	D;P	0.53312	0.959;0.931	P;B	0.48952	0.596;0.312	T	0.04537	-1.0944	10	0.39692	T	0.17	-4.0398	20.2985	0.98592	0.0:0.0:1.0:0.0	.	623;623	Q68CP9-3;Q68CP9	.;ARID2_HUMAN	L	623;474;233	ENSP00000335044:R623L	ENSP00000335044:R623L	R	+	2	0	ARID2	44529782	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.065000	0.71176	2.793000	0.96121	0.655000	0.94253	CGT		PASS	0.383	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		43	134	43	134	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49441822	49441822	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr12:49441822G>A	ENST00000301067.7	-	14	4161	c.4162C>T	c.(4162-4164)Cgg>Tgg	p.R1388W		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1388					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R1388W(1)|p.R1115W(1)									TCTGCCCCCCGGCCAAAGCTG	0.547																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - Missense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(4162-4164)CGG>TGG		myeloid/lymphoid or mixed-lineage leukemia 2							63.0	70.0	68.0					12																	49441822		2037	4180	6217	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49441822G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4162C>T	12.37:g.49441822G>A	ENSP00000301067:p.Arg1388Trp	HNSCC(34;0.089)					p.R1388W	NM_003482	NP_003473	O14686	MLL2_HUMAN			14	4162	-			1388			PHD-type 3.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.4162C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226402	0.39300	.	.	ENSG00000167548	ENST00000301067	D	0.87650	-2.28	5.83	4.93	0.64822	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.33127	N	0.005254	D	0.88429	0.6434	N	0.19112	0.55	0.32676	N	0.516204	D	0.89917	1.0	D	0.76071	0.987	D	0.91392	0.5136	10	0.87932	D	0	.	15.1061	0.72322	0.0:0.0:0.8569:0.1431	.	1388	O14686	MLL2_HUMAN	W	1388	ENSP00000301067:R1388W	ENSP00000301067:R1388W	R	-	1	2	MLL2	47728089	0.999000	0.42202	1.000000	0.80357	0.964000	0.63967	6.305000	0.72805	1.438000	0.47492	0.563000	0.77884	CGG		PASS	0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			14	81	14	81	---	---	---	---
TIMELESS	8914	broad.mit.edu	37	12	56815268	56815268	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr12:56815268C>A	ENST00000553532.1	-	23	2885	c.2735G>T	c.(2734-2736)gGt>gTt	p.G912V	TIMELESS_ENST00000229201.4_Missense_Mutation_p.G911V|TIMELESS_ENST00000554616.1_Missense_Mutation_p.G409V					timeless circadian clock									p.G912V(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CATGATATGACCCAGGACATC	0.478																																						uc001slf.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(2)|pancreas(1)	8						c.(2734-2736)GGT>GTT		timeless homolog							126.0	128.0	127.0					12																	56815268		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56815268C>A	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2735G>T	12.37:g.56815268C>A	ENSP00000450607:p.Gly912Val						p.G912V	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN			23	2903	-			912						Missense_Mutation	SNP	ENST00000553532.1	37	c.2735G>T	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738014	0.69304	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.11385	2.78;2.78;2.78	5.29	4.4	0.53042	Timeless C-terminal (1);	0.056048	0.64402	D	0.000001	T	0.22859	0.0552	L	0.57536	1.79	0.53005	D	0.999962	D	0.58620	0.983	P	0.59703	0.862	T	0.00611	-1.1645	10	0.66056	D	0.02	-3.5898	9.676	0.40041	0.0:0.7788:0.1419:0.0793	.	912	Q9UNS1	TIM_HUMAN	V	911;912;409	ENSP00000229201:G911V;ENSP00000450607:G912V;ENSP00000450848:G409V	ENSP00000229201:G912V	G	-	2	0	TIMELESS	55101535	1.000000	0.71417	0.998000	0.56505	0.773000	0.43773	4.349000	0.59385	1.379000	0.46325	0.555000	0.69702	GGT		PASS	0.478	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		14	128	14	128	---	---	---	---
KIF5A	3798	broad.mit.edu	37	12	57969023	57969023	+	Nonsense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr12:57969023G>T	ENST00000455537.2	+	16	2147	c.1873G>T	c.(1873-1875)Gag>Tag	p.E625*	KIF5A_ENST00000286452.5_Nonsense_Mutation_p.E536*	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	625					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.E625*(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GACCGGGCGGGAGCTCTCATC	0.542																																						uc001sor.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1873-1875)GAG>TAG		kinesin family member 5A							44.0	42.0	43.0					12																	57969023		2203	4300	6503	SO:0001587	stop_gained	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57969023G>T	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.1873G>T	12.37:g.57969023G>T	ENSP00000408979:p.Glu625*					KIF5A_uc010srr.1_Nonsense_Mutation_p.E536*	p.E625*	NM_004984	NP_004975	Q12840	KIF5A_HUMAN			16	2081	+			625					A6H8M5|Q4LE26	Nonsense_Mutation	SNP	ENST00000455537.2	37	c.1873G>T	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	41	8.776774	0.98950	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	.	.	.	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	16.5549	0.84482	0.0:0.0:1.0:0.0	.	.	.	.	X	625;536	.	ENSP00000286452:E536X	E	+	1	0	KIF5A	56255290	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.566000	0.98157	2.504000	0.84457	0.655000	0.94253	GAG		PASS	0.542	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		10	25	10	25	---	---	---	---
KCNC2	3747	broad.mit.edu	37	12	75444822	75444822	+	Silent	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr12:75444822C>A	ENST00000549446.1	-	3	1643	c.963G>T	c.(961-963)gtG>gtT	p.V321V	KCNC2_ENST00000548513.1_Silent_p.V321V|KCNC2_ENST00000341669.3_Silent_p.V321V|KCNC2_ENST00000298972.1_Silent_p.V321V|KCNC2_ENST00000548243.1_5'Flank|KCNC2_ENST00000393288.2_Silent_p.V321V|KCNC2_ENST00000540018.1_Silent_p.V321V|KCNC2_ENST00000350228.2_Silent_p.V321V|KCNC2_ENST00000550433.1_Silent_p.V321V	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	321					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.V321V(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	GTAGGATGGCCACAAAGTCAA	0.408																																						uc001sxg.1																			2	Substitution - coding silent(2)		lung(2)	breast(2)|pancreas(2)|skin(1)|lung(1)	6						c.(961-963)GTG>GTT		Shaw-related voltage-gated potassium channel							92.0	87.0	89.0					12																	75444822		2203	4300	6503	SO:0001819	synonymous_variant	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75444822C>A	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.963G>T	12.37:g.75444822C>A						KCNC2_uc009zry.2_Silent_p.V321V|KCNC2_uc001sxe.2_Silent_p.V321V|KCNC2_uc001sxf.2_Silent_p.V321V|KCNC2_uc010stw.1_Silent_p.V321V	p.V321V	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			3	1507	-			321			Helical; Name=Segment S3; (Potential).		B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Silent	SNP	ENST00000549446.1	37	c.963G>T	CCDS9007.1																																																																																				PASS	0.408	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		15	60	15	60	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78511901	78511901	+	Missense_Mutation	SNP	G	G	T	rs541383229		TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr12:78511901G>T	ENST00000397909.2	+	14	3037	c.2864G>T	c.(2863-2865)gGg>gTg	p.G955V	NAV3_ENST00000536525.2_Missense_Mutation_p.G955V|NAV3_ENST00000266692.7_Missense_Mutation_p.G955V|NAV3_ENST00000228327.6_Missense_Mutation_p.G955V			Q8IVL0	NAV3_HUMAN	neuron navigator 3	955						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.G955V(2)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GACAGCCATGGGGATGCTGGT	0.512										HNSCC(70;0.22)																												uc001syp.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(2863-2865)GGG>GTG		neuron navigator 3							134.0	142.0	139.0					12																	78511901		1958	4151	6109	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78511901G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2864G>T	12.37:g.78511901G>T	ENSP00000381007:p.Gly955Val	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.G955V|NAV3_uc010sub.1_Missense_Mutation_p.G455V|NAV3_uc009zsf.2_5'UTR	p.G955V	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			14	3037	+			955					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.2864G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.426|9.426	1.084319|1.084319	0.20309|0.20309	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692|ENST00000552895	T;T;T;T|.	0.29397|.	1.57;1.57;1.57;1.57|.	5.85|5.85	1.65|1.65	0.23941|0.23941	.|.	0.728583|.	0.11044|.	N|.	0.605812|.	T|T	0.28366|0.28366	0.0701|0.0701	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	D|D	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|T	0.04281|0.04281	-1.0963|-1.0963	10|5	0.30854|.	T|.	0.27|.	-3.097|-3.097	9.9836|9.9836	0.41828|0.41828	0.0:0.1016:0.2985:0.5999|0.0:0.1016:0.2985:0.5999	.|.	955;955;955|.	E7EUC6;Q8IVL0;Q8IVL0-2|.	.;NAV3_HUMAN;.|.	V|C	955|26	ENSP00000446132:G955V;ENSP00000381007:G955V;ENSP00000228327:G955V;ENSP00000266692:G955V|.	ENSP00000228327:G955V|.	G|W	+|+	2|3	0|0	NAV3|NAV3	77036032|77036032	0.576000|0.576000	0.26700|0.26700	0.692000|0.692000	0.30179|0.30179	0.988000|0.988000	0.76386|0.76386	1.818000|1.818000	0.39012|0.39012	0.782000|0.782000	0.33613|0.33613	0.563000|0.563000	0.77884|0.77884	GGG|TGG		PASS	0.512	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		44	118	44	118	---	---	---	---
FGD6	55785	broad.mit.edu	37	12	95535176	95535176	+	Missense_Mutation	SNP	C	C	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr12:95535176C>G	ENST00000343958.4	-	6	3048	c.2825G>C	c.(2824-2826)aGa>aCa	p.R942T	FGD6_ENST00000549499.1_Missense_Mutation_p.R942T|FGD6_ENST00000546711.1_Missense_Mutation_p.R942T	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	942	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.R942T(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GTGCAACATTCTTTCCTCCAG	0.428																																						uc001tdp.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(2824-2826)AGA>ACA		FYVE, RhoGEF and PH domain containing 6							125.0	124.0	124.0					12																	95535176		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95535176C>G	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2825G>C	12.37:g.95535176C>G	ENSP00000344446:p.Arg942Thr					FGD6_uc009zsx.2_Missense_Mutation_p.R75T	p.R942T	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN			6	3049	-			942			DH.		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.2825G>C	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566836	0.86439	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.34072	1.38;1.38;1.38	5.79	5.79	0.91817	Dbl homology (DH) domain (5);	0.000000	0.52532	D	0.000070	T	0.68742	0.3034	M	0.89715	3.055	0.58432	D	0.999997	D	0.69078	0.997	D	0.68192	0.956	T	0.74538	-0.3632	10	0.72032	D	0.01	-28.6671	20.0474	0.97616	0.0:1.0:0.0:0.0	.	942	Q6ZV73	FGD6_HUMAN	T	942	ENSP00000344446:R942T;ENSP00000450342:R942T;ENSP00000449005:R942T	ENSP00000344446:R942T	R	-	2	0	FGD6	94059307	1.000000	0.71417	0.826000	0.32828	0.881000	0.50899	7.430000	0.80321	2.722000	0.93159	0.655000	0.94253	AGA		PASS	0.428	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		5	57	5	57	---	---	---	---
TAOK3	51347	broad.mit.edu	37	12	118599636	118599636	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr12:118599636C>T	ENST00000392533.3	-	18	2586	c.2096G>A	c.(2095-2097)aGa>aAa	p.R699K	TAOK3_ENST00000543709.1_5'Flank|TAOK3_ENST00000419821.2_Missense_Mutation_p.R699K|TAOK3_ENST00000537952.1_Missense_Mutation_p.R239K	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	699					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.R699K(1)		central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACATGCTTTCTGTGCAGTTC	0.463																																						uc001twx.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|central_nervous_system(1)	6						c.(2095-2097)AGA>AAA		TAO kinase 3							241.0	218.0	226.0					12																	118599636		2203	4300	6503	SO:0001583	missense	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118599636C>T	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.2096G>A	12.37:g.118599636C>T	ENSP00000376317:p.Arg699Lys					TAOK3_uc001twv.2_Missense_Mutation_p.R239K|TAOK3_uc001tww.2_Missense_Mutation_p.R529K|TAOK3_uc001twy.3_Missense_Mutation_p.R699K	p.R699K	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN			18	2391	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		699					Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	c.2096G>A	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558660	0.45590	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000537952	T;T;T	0.62105	0.05;0.05;0.05	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.50394	0.1613	L	0.33293	1	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.49390	-0.8945	10	0.02654	T	1	.	19.6982	0.96039	0.0:1.0:0.0:0.0	.	699	Q9H2K8	TAOK3_HUMAN	K	699;699;239	ENSP00000416374:R699K;ENSP00000376317:R699K;ENSP00000443834:R239K	ENSP00000376317:R699K	R	-	2	0	TAOK3	117084019	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.824000	0.69279	2.894000	0.99253	0.655000	0.94253	AGA		PASS	0.463	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		42	206	42	206	---	---	---	---
CCDC60	160777	broad.mit.edu	37	12	119978478	119978478	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr12:119978478C>A	ENST00000327554.2	+	14	2076	c.1611C>A	c.(1609-1611)agC>agA	p.S537R	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	537								p.S537R(1)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GGCTGCAGAGCCGGATCAACA	0.522																																						uc001txe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(1609-1611)AGC>AGA		coiled-coil domain containing 60							124.0	115.0	118.0					12																	119978478		2203	4300	6503	SO:0001583	missense	160777							g.chr12:119978478C>A	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.1611C>A	12.37:g.119978478C>A	ENSP00000333374:p.Ser537Arg					uc001txf.2_Intron	p.S537R	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	14	2076	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		537						Missense_Mutation	SNP	ENST00000327554.2	37	c.1611C>A	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	C	9.939	1.216917	0.22373	.	.	ENSG00000183273	ENST00000327554	T	0.25414	1.8	5.4	2.37	0.29283	.	0.781238	0.11635	N	0.544371	T	0.20129	0.0484	L	0.40543	1.245	0.09310	N	1	B	0.30973	0.302	B	0.36186	0.219	T	0.26710	-1.0095	9	.	.	.	-10.6761	3.8165	0.08818	0.0:0.5542:0.1979:0.2479	.	537	Q8IWA6	CCD60_HUMAN	R	537	ENSP00000333374:S537R	.	S	+	3	2	CCDC60	118462861	0.001000	0.12720	0.027000	0.17364	0.007000	0.05969	0.084000	0.14891	0.839000	0.34971	-0.175000	0.13238	AGC		PASS	0.522	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		30	91	30	91	---	---	---	---
TMEM132B	114795	broad.mit.edu	37	12	126068503	126068503	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr12:126068503C>A	ENST00000299308.3	+	5	1393	c.1385C>A	c.(1384-1386)tCt>tAt	p.S462Y		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	462						integral component of membrane (GO:0016021)		p.S462Y(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)		GTGTCTGAGTCTGTGGAATGC	0.478																																						uc001uhe.1																			1	Substitution - Missense(1)		lung(1)	skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(1384-1386)TCT>TAT		transmembrane protein 132B							287.0	274.0	279.0					12																	126068503		2006	4182	6188	SO:0001583	missense	114795					integral to membrane		g.chr12:126068503C>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.1385C>A	12.37:g.126068503C>A	ENSP00000299308:p.Ser462Tyr						p.S462Y	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	5	1393	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		462			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.1385C>A	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.504998	0.00992	.	.	ENSG00000139364	ENST00000299308	T	0.13657	2.57	4.7	4.7	0.59300	.	0.956210	0.08330	U	0.962470	T	0.15435	0.0372	M	0.64170	1.965	0.09310	N	0.999995	P	0.38440	0.631	B	0.36766	0.232	T	0.15694	-1.0428	10	0.10377	T	0.69	.	10.1483	0.42778	0.0:0.9055:0.0:0.0945	.	462	Q14DG7	T132B_HUMAN	Y	462	ENSP00000299308:S462Y	ENSP00000299308:S462Y	S	+	2	0	TMEM132B	124634456	0.000000	0.05858	0.862000	0.33874	0.412000	0.31113	0.752000	0.26362	2.148000	0.66965	0.561000	0.74099	TCT		PASS	0.478	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		81	212	81	212	---	---	---	---
ZMYM5	9205	broad.mit.edu	37	13	20413041	20413041	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr13:20413041C>T	ENST00000337963.4	-	5	935	c.671G>A	c.(670-672)cGt>cAt	p.R224H	RP11-61K9.2_ENST00000422148.2_RNA|ZMYM5_ENST00000382905.4_Missense_Mutation_p.R224H|ZMYM5_ENST00000382907.4_Intron	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	224						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R224H(2)		kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATTCTGCTTACGAAGTAAGGC	0.418																																						uc010tcn.1																			2	Substitution - Missense(2)		lung(2)		0						c.(670-672)CGT>CAT		zinc finger protein 237 isoform 3							173.0	175.0	174.0					13																	20413041		2203	4300	6503	SO:0001583	missense	9205					nucleus	zinc ion binding	g.chr13:20413041C>T	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.671G>A	13.37:g.20413041C>T	ENSP00000337034:p.Arg224His					ZMYM5_uc001umm.1_Missense_Mutation_p.R48H|ZMYM5_uc001umn.2_Missense_Mutation_p.R224H|ZMYM5_uc001umo.2_Intron	p.R224H	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	5	936	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	224					B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37	c.671G>A		.	.	.	.	.	.	.	.	.	.	C	15.36	2.809605	0.50421	.	.	ENSG00000132950	ENST00000337963;ENST00000502168;ENST00000382905	T;T;T	0.24723	2.21;2.21;1.84	4.67	2.89	0.33648	.	0.162983	0.56097	D	0.000038	T	0.20700	0.0498	N	0.22421	0.69	0.26347	N	0.977279	D;D	0.64830	0.994;0.99	B;P	0.44597	0.439;0.454	T	0.07424	-1.0773	10	0.59425	D	0.04	-3.5578	14.8378	0.70197	0.0:0.2802:0.7198:0.0	.	224;224	Q9UJ78;Q9UJ78-1	ZMYM5_HUMAN;.	H	224;214;224	ENSP00000337034:R224H;ENSP00000445779:R214H;ENSP00000372361:R224H	ENSP00000337034:R224H	R	-	2	0	ZMYM5	19311041	1.000000	0.71417	0.987000	0.45799	0.804000	0.45430	5.888000	0.69758	0.663000	0.31027	-0.321000	0.08615	CGT		PASS	0.418	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		6	215	6	215	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32915254	32915254	+	Silent	SNP	T	T	C			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr13:32915254T>C	ENST00000380152.3	+	11	6995	c.6762T>C	c.(6760-6762)ttT>ttC	p.F2254F	BRCA2_ENST00000544455.1_Silent_p.F2254F			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2254					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.F2254F(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATTCTCTTTTTACATGTCCCG	0.363			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		2	Substitution - coding silent(2)		lung(2)	ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(6760-6762)TTT>TTC	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							118.0	123.0	121.0					13																	32915254		2203	4300	6503	SO:0001819	synonymous_variant	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32915254T>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6762T>C	13.37:g.32915254T>C		TCGA Ovarian(8;0.087)					p.F2254F	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	6989	+		Lung SC(185;0.0262)	2254					O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	c.6762T>C	CCDS9344.1																																																																																				PASS	0.363	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		49	120	49	120	---	---	---	---
OR4N5	390437	broad.mit.edu	37	14	20612691	20612691	+	Missense_Mutation	SNP	C	C	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr14:20612691C>G	ENST00000333629.1	+	1	797	c.797C>G	c.(796-798)cCa>cGa	p.P266R	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P266R(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CAGGCTTTCCCAGCTGACAAG	0.428																																						uc010tla.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(796-798)CCA>CGA		olfactory receptor, family 4, subfamily N,							187.0	191.0	190.0					14																	20612691		2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612691C>G		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.797C>G	14.37:g.20612691C>G	ENSP00000332110:p.Pro266Arg						p.P266R	NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	797	+	all_cancers(95;0.00108)		266			Extracellular (Potential).		Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.797C>G	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594785	0.28445	.	.	ENSG00000184394	ENST00000333629	T	0.00039	8.85	3.88	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	0.340227	0.21437	N	0.074550	T	0.00178	0.0005	L	0.50847	1.595	0.26060	N	0.981365	P	0.41080	0.737	P	0.45449	0.481	T	0.30149	-0.9988	10	0.72032	D	0.01	.	7.7697	0.29001	0.0:0.8829:0.0:0.1171	.	266	Q8IXE1	OR4N5_HUMAN	R	266	ENSP00000332110:P266R	ENSP00000332110:P266R	P	+	2	0	OR4N5	19682531	0.000000	0.05858	0.991000	0.47740	0.367000	0.29736	-1.206000	0.03011	0.984000	0.38629	-0.122000	0.15005	CCA		PASS	0.428	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			51	179	51	179	---	---	---	---
CHD8	57680	broad.mit.edu	37	14	21894357	21894357	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr14:21894357G>A	ENST00000557364.1	-	5	1909	c.1646C>T	c.(1645-1647)tCa>tTa	p.S549L	CHD8_ENST00000430710.3_Missense_Mutation_p.S270L|CHD8_ENST00000399982.2_Missense_Mutation_p.S549L|CHD8_ENST00000555962.1_Intron			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	549					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.S549L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ATTATCAGATGAGGTATTACG	0.373																																						uc001was.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(808-810)TCA>TTA		chromodomain helicase DNA binding protein 8							114.0	99.0	104.0					14																	21894357		1893	4134	6027	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21894357G>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1646C>T	14.37:g.21894357G>A	ENSP00000451601:p.Ser549Leu					CHD8_uc001war.1_Missense_Mutation_p.S166L	p.S270L	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	5	903	-	all_cancers(95;0.00121)		549					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.809C>T	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	G	32	5.124031	0.94429	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.90004	-2.55;-2.6;-2.6	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	D	0.86764	0.6011	N	0.24115	0.695	0.58432	D	0.999994	P	0.45957	0.869	P	0.47915	0.561	D	0.88023	0.2770	10	0.56958	D	0.05	-9.6338	18.349	0.90331	0.0:0.0:1.0:0.0	.	270	Q9HCK8-2	.	L	270;549;269;549	ENSP00000406288:S270L;ENSP00000382863:S549L;ENSP00000451601:S549L	ENSP00000262707:S269L	S	-	2	0	CHD8	20964197	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.898000	0.75676	2.625000	0.88918	0.591000	0.81541	TCA		PASS	0.373	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		8	23	8	23	---	---	---	---
KHNYN	23351	broad.mit.edu	37	14	24901069	24901069	+	Missense_Mutation	SNP	A	A	C			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr14:24901069A>C	ENST00000251343.5	+	3	741	c.602A>C	c.(601-603)cAg>cCg	p.Q201P	CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000554268.1_5'Flank|KHNYN_ENST00000553935.1_Missense_Mutation_p.Q201P|KHNYN_ENST00000556842.1_Missense_Mutation_p.Q201P|CBLN3_ENST00000267406.6_5'Flank			O15037	KHNYN_HUMAN	KH and NYN domain containing	201							RNA binding (GO:0003723)	p.Q201P(1)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						TCTAGTGGGCAGGGGCCAGGA	0.657											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001wph.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|liver(1)	3						c.(601-603)CAG>CCG		hypothetical protein LOC23351							54.0	59.0	57.0					14																	24901069		2202	4297	6499	SO:0001583	missense	23351							g.chr14:24901069A>C	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.602A>C	14.37:g.24901069A>C	ENSP00000251343:p.Gln201Pro		OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	KHNYN_uc010tpc.1_Missense_Mutation_p.Q242P|KHNYN_uc010alw.2_Missense_Mutation_p.Q201P|CBLN3_uc001wpg.3_5'Flank	p.Q201P	NM_015299	NP_056114	O15037	KHNYN_HUMAN			3	804	+			201					Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	c.602A>C	CCDS32058.1	.	.	.	.	.	.	.	.	.	.	A	5.885	0.347356	0.11126	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935	T;T;T	0.23950	1.88;1.88;1.88	4.62	2.26	0.28386	.	0.770342	0.11914	N	0.517382	T	0.15046	0.0363	L	0.27053	0.805	0.80722	D	1	P;P	0.50943	0.94;0.894	B;B	0.38655	0.278;0.278	T	0.06006	-1.0851	10	0.56958	D	0.05	.	5.5835	0.17262	0.7774:0.0:0.2226:0.0	.	242;201	D3DS77;O15037	.;KHNYN_HUMAN	P	201	ENSP00000251343:Q201P;ENSP00000451106:Q201P;ENSP00000450799:Q201P	ENSP00000251343:Q201P	Q	+	2	0	KHNYN	23970909	0.638000	0.27225	0.964000	0.40570	0.036000	0.12997	1.552000	0.36244	0.744000	0.32741	0.460000	0.39030	CAG		PASS	0.657	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			25	86	25	86	---	---	---	---
TMEM260	54916	broad.mit.edu	37	14	57114058	57114058	+	Missense_Mutation	SNP	G	G	A	rs545798179		TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr14:57114058G>A	ENST00000261556.6	+	16	2089	c.1967G>A	c.(1966-1968)aGa>aAa	p.R656K	RP11-1085N6.2_ENST00000555924.1_RNA|TMEM260_ENST00000536419.1_Missense_Mutation_p.R190K|RP11-1085N6.2_ENST00000553800.1_RNA	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	656						integral component of membrane (GO:0016021)		p.R656K(1)									CTTCAGGCAAGAGATGCAGAT	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		16692	0.0		0.0	False		,,,				2504	0.001					uc001xcm.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(1966-1968)AGA>AAA		hypothetical protein LOC54916							87.0	73.0	77.0					14																	57114058		2203	4300	6503	SO:0001583	missense	54916					integral to membrane		g.chr14:57114058G>A	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.1967G>A	14.37:g.57114058G>A	ENSP00000261556:p.Arg656Lys					C14orf101_uc001xcj.2_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_Missense_Mutation_p.R189K|C14orf101_uc001xco.2_Missense_Mutation_p.R189K	p.R656K	NM_017799	NP_060269	Q9NX78	CN101_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;0.226)	16	2089	+			656					A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	c.1967G>A	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	G	1.203	-0.631969	0.03584	.	.	ENSG00000070269	ENST00000261556;ENST00000536419	T;T	0.41400	1.58;1.0	5.53	-0.0925	0.13656	.	1.601630	0.02783	N	0.121173	T	0.21062	0.0507	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13980	-1.0489	10	0.05525	T	0.97	-6.7027	3.1472	0.06475	0.1475:0.3028:0.3997:0.15	.	656	Q9NX78	CN101_HUMAN	K	656;190	ENSP00000261556:R656K;ENSP00000438742:R190K	ENSP00000261556:R656K	R	+	2	0	C14orf101	56183811	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	0.040000	0.13905	0.113000	0.18004	0.650000	0.86243	AGA		PASS	0.458	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		8	48	8	48	---	---	---	---
HIF1A	3091	broad.mit.edu	37	14	62187261	62187261	+	Missense_Mutation	SNP	A	A	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr14:62187261A>G	ENST00000337138.4	+	2	462	c.197A>G	c.(196-198)tAt>tGt	p.Y66C	HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000557206.1_3'UTR|HIF1A_ENST00000557538.1_Missense_Mutation_p.Y7C|HIF1A_ENST00000539097.1_Missense_Mutation_p.Y90C|HIF1A_ENST00000394997.1_Missense_Mutation_p.Y67C|HIF1A_ENST00000323441.6_Missense_Mutation_p.Y66C	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	66	Interaction with TSGA10. {ECO:0000250}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.Y66C(1)		breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	ACCATCAGCTATTTGCGTGTG	0.373																																						uc001xfq.2																			1	Substitution - Missense(1)		lung(1)	kidney(3)|lung(1)	4						c.(196-198)TAT>TGT		hypoxia-inducible factor 1, alpha subunit							107.0	98.0	101.0					14																	62187261		2203	4300	6503	SO:0001583	missense	3091				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:62187261A>G	U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.197A>G	14.37:g.62187261A>G	ENSP00000338018:p.Tyr66Cys					HIF1A_uc010tsc.1_Intron|HIF1A_uc001xfr.2_Missense_Mutation_p.Y66C|HIF1A_uc001xfs.2_Missense_Mutation_p.Y67C	p.Y66C	NM_001530	NP_001521	Q16665	HIF1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	2	601	+			66			Interaction with TSGA10 (By similarity).|Helix-loop-helix motif.		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	ENST00000337138.4	37	c.197A>G	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	A	18.58	3.654771	0.67472	.	.	ENSG00000100644	ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.68765	0.27;0.23;0.16;-0.35;0.23	5.75	4.6	0.57074	Helix-loop-helix DNA-binding (3);	0.000000	0.85682	D	0.000000	D	0.84042	0.5385	M	0.90977	3.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.992;0.992	D	0.86395	0.1738	10	0.87932	D	0	.	11.8256	0.52265	0.9312:0.0:0.0688:0.0	.	67;66;66	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	C	7;66;67;66;7;90	ENSP00000338018:Y66C;ENSP00000378446:Y67C;ENSP00000323326:Y66C;ENSP00000451696:Y7C;ENSP00000437955:Y90C	ENSP00000323326:Y66C	Y	+	2	0	HIF1A	61257014	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	5.988000	0.70579	0.997000	0.38969	0.477000	0.44152	TAT		PASS	0.373	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530		18	70	18	70	---	---	---	---
TMEM229B	161145	broad.mit.edu	37	14	67940583	67940583	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr14:67940583C>T	ENST00000557006.1	-	4	340	c.58G>A	c.(58-60)Ggc>Agc	p.G20S	TMEM229B_ENST00000357461.2_Missense_Mutation_p.G20S			Q8NBD8	T229B_HUMAN	transmembrane protein 229B	20						integral component of membrane (GO:0016021)		p.G20S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CAGAAGTAGCCGTGGATGGCA	0.642																																						uc001xjk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(58-60)GGC>AGC		transmembrane protein 229B							32.0	21.0	25.0					14																	67940583		2203	4300	6503	SO:0001583	missense	161145					integral to membrane		g.chr14:67940583C>T	AK090706	CCDS9783.1	14q23.3-q24.1	2009-09-22	2009-09-22	2009-09-22	ENSG00000198133	ENSG00000198133			20130	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 83"""	C14orf83			Standard	NM_182526		Approved	FLJ33387	uc001xjk.3	Q8NBD8		ENST00000557006.1:c.58G>A	14.37:g.67940583C>T	ENSP00000451774:p.Gly20Ser					TMEM229B_uc001xjj.1_RNA	p.G20S	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN			3	468	-			20			Helical; (Potential).			Missense_Mutation	SNP	ENST00000557006.1	37	c.58G>A	CCDS9783.1	.	.	.	.	.	.	.	.	.	.	c	34	5.301815	0.95601	.	.	ENSG00000198133	ENST00000557006;ENST00000357461;ENST00000554278;ENST00000554480;ENST00000555994;ENST00000557779	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.83631	0.5296	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86589	0.1859	9	0.59425	D	0.04	-22.8439	17.4744	0.87655	0.0:1.0:0.0:0.0	.	20	Q8NBD8	T229B_HUMAN	S	20	.	ENSP00000350050:G20S	G	-	1	0	TMEM229B	67010336	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	5.996000	0.70639	2.121000	0.65114	0.450000	0.29827	GGC		PASS	0.642	TMEM229B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412718.2	NM_182526		14	25	14	25	---	---	---	---
FLRT2	23768	broad.mit.edu	37	14	86089392	86089392	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr14:86089392G>T	ENST00000330753.4	+	2	2301	c.1534G>T	c.(1534-1536)Gcc>Tcc	p.A512S	FLRT2_ENST00000554746.1_Missense_Mutation_p.A512S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	512	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.A512S(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTGTTCAGAGGCCACCACCCA	0.562																																						uc001xvr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(1534-1536)GCC>TCC		fibronectin leucine rich transmembrane protein 2							121.0	114.0	116.0					14																	86089392		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089392G>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1534G>T	14.37:g.86089392G>T	ENSP00000332879:p.Ala512Ser					FLRT2_uc010atd.2_Missense_Mutation_p.A512S	p.A512S	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2301	+			512			Extracellular (Potential).		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1534G>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.555305	0.45487	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.58358	0.34;0.34	6.17	6.17	0.99709	.	0.102976	0.64402	D	0.000003	T	0.51278	0.1665	L	0.55481	1.735	0.58432	D	0.999996	B	0.31318	0.319	B	0.23419	0.046	T	0.44651	-0.9314	10	0.41790	T	0.15	-18.9537	20.8794	0.99867	0.0:0.0:1.0:0.0	.	512	O43155	FLRT2_HUMAN	S	512;512;165	ENSP00000332879:A512S;ENSP00000451050:A512S	ENSP00000332879:A512S	A	+	1	0	FLRT2	85159145	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	8.061000	0.89467	2.941000	0.99782	0.655000	0.94253	GCC		PASS	0.562	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			41	100	41	100	---	---	---	---
TTC7B	145567	broad.mit.edu	37	14	91059951	91059951	+	Silent	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr14:91059951C>A	ENST00000328459.6	-	18	2107	c.1986G>T	c.(1984-1986)tcG>tcT	p.S662S	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000357056.2_Silent_p.S679S	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	662								p.S662S(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				AGGCTGCTACCGATGTGGCAT	0.582																																						uc001xyp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1984-1986)TCG>TCT		tetratricopeptide repeat domain 7B							74.0	65.0	68.0					14																	91059951		2203	4300	6503	SO:0001819	synonymous_variant	145567						binding	g.chr14:91059951C>A	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.1986G>T	14.37:g.91059951C>A						TTC7B_uc001xyo.2_Silent_p.S106S|TTC7B_uc010ats.2_RNA	p.S662S	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN			18	2108	-		Melanoma(154;0.222)	662					Q86U24|Q86VT3	Silent	SNP	ENST00000328459.6	37	c.1986G>T	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	C	6.124	0.391050	0.11581	.	.	ENSG00000165914	ENST00000557292	.	.	.	5.6	-11.2	0.00127	.	.	.	.	.	T	0.32585	0.0834	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45804	-0.9236	4	.	.	.	-9.8876	2.3966	0.04391	0.1415:0.2793:0.306:0.2733	.	.	.	.	C	90	.	.	G	-	1	0	TTC7B	90129704	0.000000	0.05858	0.005000	0.12908	0.707000	0.40811	-2.103000	0.01341	-3.444000	0.00162	-0.295000	0.09555	GGT		PASS	0.582	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			25	50	25	50	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102471151	102471151	+	Nonsense_Mutation	SNP	G	G	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr14:102471151G>A	ENST00000360184.4	+	25	5266	c.5102G>A	c.(5101-5103)tGg>tAg	p.W1701*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1701	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.W1701*(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATCAATGAGTGGCTCACATTG	0.373																																						uc001yks.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(5101-5103)TGG>TAG		cytoplasmic dynein 1 heavy chain 1							103.0	95.0	98.0					14																	102471151		2203	4300	6503	SO:0001587	stop_gained	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102471151G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.5102G>A	14.37:g.102471151G>A	ENSP00000348965:p.Trp1701*						p.W1701*	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			25	5266	+			1701			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Nonsense_Mutation	SNP	ENST00000360184.4	37	c.5102G>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	47	13.023159	0.99714	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1708	0.98159	0.0:0.0:1.0:0.0	.	.	.	.	X	1701	.	ENSP00000348965:W1701X	W	+	2	0	DYNC1H1	101540904	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.797000	0.99108	2.761000	0.94854	0.655000	0.94253	TGG		PASS	0.373	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		4	42	4	42	---	---	---	---
KIF26A	26153	broad.mit.edu	37	14	104638965	104638965	+	Silent	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr14:104638965G>T	ENST00000423312.2	+	7	1380	c.1380G>T	c.(1378-1380)ggG>ggT	p.G460G	KIF26A_ENST00000315264.7_Silent_p.G321G	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	460	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)	p.G460G(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGGTCAGTGGGGCTGATGGCT	0.632																																						uc001yos.3																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1378-1380)GGG>GGT		kinesin family member 26A							83.0	85.0	84.0					14																	104638965		2079	4203	6282	SO:0001819	synonymous_variant	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104638965G>T	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.1380G>T	14.37:g.104638965G>T							p.G460G	NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	7	1380	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	460			Kinesin-motor.		Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	c.1380G>T	CCDS45171.1																																																																																				PASS	0.632	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			8	29	8	29	---	---	---	---
GOLGA8EP	390535	broad.mit.edu	37	15	23445400	23445400	+	RNA	SNP	T	T	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr15:23445400T>A	ENST00000526079.1	+	0	2220				AC100757.1_ENST00000458911.1_RNA|RN7SL106P_ENST00000488468.2_RNA	NR_027407.1|NR_033350.1				golgin A8 family, member E, pseudogene									p.L411M(1)									GCACCCAGGCTTGGGCAGCAA	0.552																																						uc001yvu.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1231-1233)TTG>ATG		golgi autoantigen, golgin subfamily a, 8E							7.0	9.0	8.0					15																	23445400		983	2286	3269			390535							g.chr15:23445400T>A			15q11.2	2014-03-21	2012-10-05	2012-10-05	ENSG00000175676	ENSG00000175676			32377	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8E"", ""golgin A8 family, member E"""	GOLGA8E		12477932	Standard	NR_033350		Approved		uc001yvu.3		OTTHUMG00000167132		15.37:g.23445400T>A						uc001yvx.2_5'Flank	p.L411M	NM_001012423	NP_001012423				all cancers(64;5.21e-07)|Epithelial(43;5.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.000614)	18	2220	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)							Missense_Mutation	SNP	ENST00000526079.1	37	c.1231T>A																																																																																					PASS	0.552	GOLGA8EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393312.1	NR_033350.1		23	111	23	111	---	---	---	---
STRC	161497	broad.mit.edu	37	15	43896213	43896213	+	Silent	SNP	T	T	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr15:43896213T>A	ENST00000450892.2	-	22	4433	c.4356A>T	c.(4354-4356)ccA>ccT	p.P1452P	STRC_ENST00000541030.1_Silent_p.P679P|RNU6-554P_ENST00000410466.1_RNA	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1452					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)		p.P1452P(1)		skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CCTCAGCAGCTGGTCGCACCA	0.537																																						uc001zsf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(4354-4356)CCA>CCT		stereocilin precursor							28.0	28.0	28.0					15																	43896213		2200	4294	6494	SO:0001819	synonymous_variant	161497				sensory perception of sound	cell surface		g.chr15:43896213T>A	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.4356A>T	15.37:g.43896213T>A						STRC_uc010bdl.2_Silent_p.P679P|STRC_uc001zse.2_5'UTR	p.P1452P	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	22	4434	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	1452						Silent	SNP	ENST00000450892.2	37	c.4356A>T	CCDS10098.1																																																																																				PASS	0.537	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		16	48	16	48	---	---	---	---
MAPK6	5597	broad.mit.edu	37	15	52353666	52353666	+	Nonsense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr15:52353666G>T	ENST00000261845.5	+	5	1843	c.1036G>T	c.(1036-1038)Gaa>Taa	p.E346*	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	346					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)	p.E346*(1)		breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		GCTTATGGATGAAACTCACAG	0.318																																						uc002abp.2																			1	Substitution - Nonsense(1)		lung(1)	lung(3)|ovary(1)	4						c.(1036-1038)GAA>TAA		mitogen-activated protein kinase 6							86.0	78.0	81.0					15																	52353666		2195	4293	6488	SO:0001587	stop_gained	5597				cell cycle		ATP binding|MAP kinase activity	g.chr15:52353666G>T	L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"""Mitogen-activated protein kinase cascade / Kinases"""	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.1036G>T	15.37:g.52353666G>T	ENSP00000261845:p.Glu346*						p.E346*	NM_002748	NP_002739	Q16659	MK06_HUMAN		all cancers(107;0.0028)	5	1830	+			346					B2R945|B5BU65|Q68DH4|Q8IYN8	Nonsense_Mutation	SNP	ENST00000261845.5	37	c.1036G>T	CCDS10147.1	.	.	.	.	.	.	.	.	.	.	G	44	11.057931	0.99509	.	.	ENSG00000069956	ENST00000261845	.	.	.	5.16	5.16	0.70880	.	0.097628	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-14.0235	18.6278	0.91347	0.0:0.0:1.0:0.0	.	.	.	.	X	346	.	ENSP00000261845:E346X	E	+	1	0	MAPK6	50140958	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.257000	0.72480	2.416000	0.81992	0.585000	0.79938	GAA		PASS	0.318	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	NM_002748		16	27	16	27	---	---	---	---
PSTPIP1	9051	broad.mit.edu	37	15	77310525	77310525	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr15:77310525C>A	ENST00000558012.1	+	2	562	c.73C>A	c.(73-75)Ctg>Atg	p.L25M	PSTPIP1_ENST00000379595.3_Missense_Mutation_p.L25M|PSTPIP1_ENST00000267939.5_Missense_Mutation_p.L24M|PSTPIP1_ENST00000559295.1_Missense_Mutation_p.L25M	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	25	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				cell adhesion (GO:0007155)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|signal transduction (GO:0007165)	actomyosin contractile ring (GO:0005826)|cell projection (GO:0042995)|cleavage furrow (GO:0032154)|cytosol (GO:0005829)|membrane (GO:0016020)|stress fiber (GO:0001725)		p.L25M(2)		breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CTACGAGGTGCTGCTGCAGCG	0.622																																						uc002bcf.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(73-75)CTG>ATG		proline-serine-threonine phosphatase interacting							27.0	34.0	31.0					15																	77310525		2153	4244	6397	SO:0001583	missense	9051				cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity	g.chr15:77310525C>A	U94778	CCDS45312.1	15q24.3	2014-09-17			ENSG00000140368	ENSG00000140368			9580	protein-coding gene	gene with protein product	"""CD2 cytoplasmic tail-binding protein"", ""CD2 antigen-binding protein 1"", ""PEST phosphatase-interacting protein 1"""	606347				9857189	Standard	NM_003978		Approved	PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS	uc002bcf.2	O43586	OTTHUMG00000172594	ENST00000558012.1:c.73C>A	15.37:g.77310525C>A	ENSP00000452746:p.Leu25Met					PSTPIP1_uc010bkt.1_RNA|PSTPIP1_uc010umo.1_Translation_Start_Site|PSTPIP1_uc010bku.1_Missense_Mutation_p.L16M|PSTPIP1_uc002bcg.2_Missense_Mutation_p.L25M|PSTPIP1_uc010bkv.1_RNA|PSTPIP1_uc010bkw.1_Missense_Mutation_p.L25M	p.L25M	NM_003978	NP_003969	O43586	PPIP1_HUMAN			2	523	+			25			FCH.		B5BU74|B5BUK4|O43585|O95657	Missense_Mutation	SNP	ENST00000558012.1	37	c.73C>A	CCDS45312.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893072	0.52121	.	.	ENSG00000140368	ENST00000379595;ENST00000267939	T;T	0.30981	1.51;1.91	4.28	2.2	0.27929	Fps/Fes/Fer/CIP4 homology (3);Prismane-like (1);	0.167625	0.39083	N	0.001476	T	0.42607	0.1210	L	0.55481	1.735	0.39607	D	0.969821	D;P;P;D	0.65815	0.989;0.848;0.773;0.995	D;P;P;D	0.70935	0.951;0.789;0.58;0.971	T	0.32052	-0.9921	10	0.49607	T	0.09	-14.9484	6.0635	0.19850	0.3043:0.6002:0.0:0.0954	.	25;24;25;25	O43586-2;C9K004;B4E1Z9;O43586	.;.;.;PPIP1_HUMAN	M	25;24	ENSP00000368914:L25M;ENSP00000267939:L24M	ENSP00000267939:L24M	L	+	1	2	PSTPIP1	75097580	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.222000	0.32515	0.925000	0.37094	0.436000	0.28706	CTG		PASS	0.622	PSTPIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000419373.2	NM_003978		4	3	4	3	---	---	---	---
CACNA1H	8912	broad.mit.edu	37	16	1254227	1254227	+	Missense_Mutation	SNP	G	G	C			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr16:1254227G>C	ENST00000348261.5	+	10	2468	c.2220G>C	c.(2218-2220)tgG>tgC	p.W740C	CACNA1H_ENST00000565831.1_Missense_Mutation_p.W740C|RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000358590.4_Missense_Mutation_p.W740C	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	740					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)	p.W740C(2)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GTGACCGCTGGGACCCCACGC	0.711																																						uc002cks.2																			2	Substitution - Missense(2)		lung(2)	breast(2)	2						c.(2218-2220)TGG>TGC		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Mibefradil(DB01388)						17.0	23.0	21.0					16																	1254227		2146	4233	6379	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1254227G>C	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2220G>C	16.37:g.1254227G>C	ENSP00000334198:p.Trp740Cys					CACNA1H_uc002ckt.2_Missense_Mutation_p.W740C	p.W740C	NM_021098	NP_066921	O95180	CAC1H_HUMAN			10	2468	+		Hepatocellular(780;0.00369)	740			Cytoplasmic (Potential).		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.2220G>C	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	3.285	-0.146192	0.06627	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96300	-3.97;-3.92	4.21	-8.41	0.00961	.	1.256550	0.05598	N	0.575897	D	0.86485	0.5944	N	0.08118	0	0.23371	N	0.997811	B;B	0.13594	0.008;0.002	B;B	0.06405	0.002;0.001	T	0.75836	-0.3177	10	0.87932	D	0	.	0.0579	0.00014	0.3061:0.1719:0.1972:0.3248	.	740;740	O95180-2;O95180	.;CAC1H_HUMAN	C	740	ENSP00000334198:W740C;ENSP00000351401:W740C	ENSP00000334198:W740C	W	+	3	0	CACNA1H	1194228	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-3.037000	0.00634	-2.945000	0.00295	-0.258000	0.10820	TGG		PASS	0.711	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		5	19	5	19	---	---	---	---
ABCA3	21	broad.mit.edu	37	16	2353971	2353971	+	Splice_Site	SNP	A	A	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr16:2353971A>G	ENST00000301732.5	-	12	2166	c.1466T>C	c.(1465-1467)aTg>aCg	p.M489T	ABCA3_ENST00000382381.3_Splice_Site_p.M431T	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	489					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.M489T(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	AGAACTCACCATGATGAAGAA	0.612																																						uc002cpy.1																			1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16						c.(1465-1467)ATG>ACG		ATP-binding cassette, sub-family A member 3							83.0	77.0	79.0					16																	2353971		2198	4300	6498	SO:0001630	splice_region_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2353971A>G	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.1467+1T>C	16.37:g.2353971A>G						ABCA3_uc010bsk.1_Missense_Mutation_p.M431T|ABCA3_uc010bsl.1_Missense_Mutation_p.M489T	p.M489T	NM_001089	NP_001080	Q99758	ABCA3_HUMAN			12	2178	-		Ovarian(90;0.17)	489					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.1466T>C	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	A	4.506	0.093832	0.08632	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.88509	-2.39	5.64	-0.555	0.11807	.	0.807982	0.12293	N	0.481881	T	0.71082	0.3298	N	0.04787	-0.16	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.52200	-0.8607	10	0.19147	T	0.46	.	4.9449	0.13984	0.5747:0.0:0.297:0.1283	.	489;493;489	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	T	489;493	ENSP00000301732:M489T	ENSP00000301732:M489T	M	-	2	0	ABCA3	2293972	0.014000	0.17966	0.032000	0.17829	0.327000	0.28475	0.335000	0.19806	-0.286000	0.09076	0.528000	0.53228	ATG		PASS	0.612	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089	Missense_Mutation	11	40	11	40	---	---	---	---
RBFOX1	54715	broad.mit.edu	37	16	7568315	7568315	+	Missense_Mutation	SNP	T	T	C			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr16:7568315T>C	ENST00000550418.1	+	5	1182	c.194T>C	c.(193-195)cTg>cCg	p.L65P	RBFOX1_ENST00000436368.2_Missense_Mutation_p.L85P|RBFOX1_ENST00000340209.4_Missense_Mutation_p.L70P|RBFOX1_ENST00000535565.2_Missense_Mutation_p.L101P|RBFOX1_ENST00000355637.4_Missense_Mutation_p.L85P|RBFOX1_ENST00000553186.1_Missense_Mutation_p.L65P|RBFOX1_ENST00000547338.1_Missense_Mutation_p.L65P|RBFOX1_ENST00000422070.4_Missense_Mutation_p.L108P|RBFOX1_ENST00000311745.5_Missense_Mutation_p.L85P|RBFOX1_ENST00000547372.1_Missense_Mutation_p.L108P|RBFOX1_ENST00000552089.1_Missense_Mutation_p.L101P	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	65					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.L85P(2)|p.L65P(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						ACATTAAACCTGTACCCTCCC	0.657																																					Ovarian(157;934 2567 15163 39509)	uc002cys.2																			3	Substitution - Missense(3)		lung(3)		0						c.(193-195)CTG>CCG		ataxin 2-binding protein 1 isoform 4							125.0	118.0	120.0					16																	7568315		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7568315T>C	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.194T>C	16.37:g.7568315T>C	ENSP00000450031:p.Leu65Pro					A2BP1_uc010buf.1_Missense_Mutation_p.L65P|A2BP1_uc002cyr.1_Missense_Mutation_p.L65P|A2BP1_uc002cyt.2_Missense_Mutation_p.L65P|A2BP1_uc010uxz.1_Missense_Mutation_p.L108P|A2BP1_uc010uya.1_Missense_Mutation_p.L101P|A2BP1_uc002cyv.1_Missense_Mutation_p.L65P|A2BP1_uc010uyb.1_Missense_Mutation_p.L65P|A2BP1_uc002cyw.2_Missense_Mutation_p.L85P|A2BP1_uc002cyy.2_Missense_Mutation_p.L85P|A2BP1_uc002cyx.2_Missense_Mutation_p.L85P|A2BP1_uc010uyc.1_Missense_Mutation_p.L85P	p.L65P	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)	5	1182	+		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)	65					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.194T>C	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.532592	0.85812	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.33865	1.93;1.39;1.78;1.68;1.69;1.81;1.39;1.53;1.71;1.72;1.39	4.67	4.67	0.58626	.	0.129442	0.47093	D	0.000256	T	0.55513	0.1925	M	0.63843	1.955	0.80722	D	1	P;D;D;P;P;D;P;P;D	0.69078	0.744;0.978;0.984;0.884;0.789;0.989;0.686;0.794;0.997	P;P;P;P;P;P;P;P;D	0.70227	0.694;0.837;0.736;0.8;0.809;0.732;0.843;0.823;0.968	T	0.57596	-0.7784	10	0.51188	T	0.08	-6.3242	14.1313	0.65255	0.0:0.0:0.0:1.0	.	85;101;108;85;85;85;65;65;108	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	P	65;65;65;108;108;101;101;65;65;85;85;85;85;70	ENSP00000450402:L65P;ENSP00000450031:L65P;ENSP00000447753:L65P;ENSP00000446842:L108P;ENSP00000391269:L108P;ENSP00000447281:L65P;ENSP00000447717:L65P;ENSP00000402745:L85P;ENSP00000309117:L85P;ENSP00000347855:L85P;ENSP00000344196:L70P	ENSP00000309117:L85P	L	+	2	0	RBFOX1	7508316	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.240000	0.78192	1.730000	0.51580	0.455000	0.32223	CTG		PASS	0.657	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		31	152	31	152	---	---	---	---
IQCK	124152	broad.mit.edu	37	16	19741816	19741816	+	Splice_Site	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr16:19741816G>T	ENST00000320394.6	+	3	945	c.246G>T	c.(244-246)acG>acT	p.T82T	IQCK_ENST00000433597.2_Intron|IQCK_ENST00000541926.1_Splice_Site_p.T82T|IQCK_ENST00000564186.1_Splice_Site_p.T82T	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K	82								p.T82T(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						CTGTGATTACGGTGAGTATTA	0.443																																						uc002dgr.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(244-246)ACG>ACT		IQ motif containing K							89.0	86.0	87.0					16																	19741816		2197	4300	6497	SO:0001630	splice_region_variant	124152							g.chr16:19741816G>T	AF520569	CCDS10580.1	16p12.3	2008-02-05			ENSG00000174628	ENSG00000174628			28556	protein-coding gene	gene with protein product						10493829	Standard	NM_153208		Approved	MGC35048, FLJ36575	uc002dgr.3	Q8N0W5	OTTHUMG00000131453	ENST00000320394.6:c.246+1G>T	16.37:g.19741816G>T						IQCK_uc002dgs.2_RNA|IQCK_uc010vat.1_Silent_p.T82T|IQCK_uc010bwc.2_RNA|IQCK_uc010vau.1_Intron	p.T82T	NM_153208	NP_694940	Q8N0W5	IQCK_HUMAN			3	945	+			82					B2RDU0|O43327|Q8NFF4	Silent	SNP	ENST00000320394.6	37	c.246G>T	CCDS10580.1																																																																																				PASS	0.443	IQCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254273.2	NM_153208	Silent	24	52	24	52	---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20492174	20492174	+	Missense_Mutation	SNP	T	T	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr16:20492174T>G	ENST00000573854.1	+	12	1554	c.1440T>G	c.(1438-1440)aaT>aaG	p.N480K	ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Missense_Mutation_p.N480K|ACSM2A_ENST00000536134.1_Missense_Mutation_p.N252K|ACSM2A_ENST00000396104.2_Missense_Mutation_p.N480K|ACSM2A_ENST00000417235.2_Missense_Mutation_p.N401K|ACSM2A_ENST00000219054.6_Missense_Mutation_p.N480K	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	480					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.N480K(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGGTAGAGAATGCACTGATGG	0.582																																						uc010bwe.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|breast(1)	3						c.(1438-1440)AAT>AAG		acyl-CoA synthetase medium-chain family member							127.0	113.0	118.0					16																	20492174		2202	4299	6501	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20492174T>G	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1440T>G	16.37:g.20492174T>G	ENSP00000459451:p.Asn480Lys					ACSM2A_uc010vax.1_Missense_Mutation_p.N401K|ACSM2A_uc002dhf.3_Missense_Mutation_p.N480K|ACSM2A_uc002dhg.3_Missense_Mutation_p.N480K|ACSM2A_uc010vay.1_Missense_Mutation_p.N401K|ACSM2A_uc002dhh.3_Missense_Mutation_p.N110K	p.N480K	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			13	1679	+			480					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.1440T>G	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.824234	0.50739	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	3.26	0.877	0.19145	AMP-dependent synthetase/ligase (1);	0.407316	0.20590	N	0.089371	T	0.42944	0.1225	L	0.31752	0.955	0.80722	D	1	P;P	0.50272	0.933;0.67	P;B	0.48368	0.575;0.398	T	0.30001	-0.9993	10	0.87932	D	0	-6.0664	7.1963	0.25855	0.0:0.2017:0.0:0.7983	.	401;480	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	K	401;480;252;480	ENSP00000392169:N401K;ENSP00000219054:N480K;ENSP00000445082:N252K;ENSP00000379411:N480K	ENSP00000219054:N480K	N	+	3	2	ACSM2A	20399675	0.691000	0.27709	0.986000	0.45419	0.763000	0.43281	-0.154000	0.10130	-0.055000	0.13244	0.240000	0.17902	AAT		PASS	0.582	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		22	89	22	89	---	---	---	---
VWA3A	146177	broad.mit.edu	37	16	22134943	22134943	+	Missense_Mutation	SNP	A	A	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr16:22134943A>T	ENST00000389398.5	+	16	1543	c.1447A>T	c.(1447-1449)Agc>Tgc	p.S483C	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	483						extracellular region (GO:0005576)		p.S483C(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GCAACAGCTCAGCAGAGCTAT	0.562																																						uc010vbq.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1447-1449)AGC>TGC		von Willebrand factor A domain containing 3A							97.0	98.0	98.0					16																	22134943		2002	4175	6177	SO:0001583	missense	146177					extracellular region		g.chr16:22134943A>T	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1447A>T	16.37:g.22134943A>T	ENSP00000374049:p.Ser483Cys					VWA3A_uc010bxd.2_RNA|VWA3A_uc010bxc.2_Missense_Mutation_p.S491C	p.S483C	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	16	1543	+			483					A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.1447A>T	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	A	12.25	1.882293	0.33255	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.12774	2.65	5.83	2.44	0.29823	.	0.821582	0.11717	N	0.536344	T	0.21468	0.0517	L	0.47716	1.5	0.26900	N	0.96713	D;D	0.64830	0.983;0.994	P;P	0.55999	0.619;0.789	T	0.09164	-1.0687	10	0.66056	D	0.02	.	6.9863	0.24731	0.5747:0.0:0.4253:0.0	.	483;107	A6NCI4;A6NCI4-2	VWA3A_HUMAN;.	C	483;106	ENSP00000374049:S483C	ENSP00000299840:S106C	S	+	1	0	VWA3A	22042444	1.000000	0.71417	0.818000	0.32626	0.017000	0.09413	2.633000	0.46519	0.488000	0.27723	0.460000	0.39030	AGC		PASS	0.562	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			27	118	27	118	---	---	---	---
PLK1	5347	broad.mit.edu	37	16	23703384	23703384	+	IGR	SNP	C	C	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr16:23703384C>G	ENST00000300093.4	+	0	2227				ERN2_ENST00000256797.4_Missense_Mutation_p.G807A|ERN2_ENST00000457008.2_Missense_Mutation_p.G707A	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1						activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.G807A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CAACATGGCTCCAACCAGGTC	0.632																																					Colon(12;240 564 27038 33155)	uc002dma.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(2)|ovary(2)	6						c.(2419-2421)GGA>GCA		endoplasmic reticulum to nucleus signalling 2							99.0	112.0	108.0					16																	23703384		2197	4300	6497	SO:0001628	intergenic_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23703384C>G		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984		16.37:g.23703384C>G						ERN2_uc010bxp.2_Missense_Mutation_p.G755A	p.G807A	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	19	2589	-			759	G -> A (in Ref. 1; BAB21297).		Protein kinase.|Cytoplasmic (Potential).		Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	c.2420G>C	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	C	4.528	0.098017	0.08681	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.64438	-0.1;-0.1	5.56	-5.92	0.02261	.	0.408050	0.25689	N	0.028953	T	0.24851	0.0603	N	0.02985	-0.445	0.21325	N	0.999727	B;B	0.09022	0.001;0.002	B;B	0.11329	0.002;0.006	T	0.11991	-1.0565	10	0.24483	T	0.36	.	3.9458	0.09347	0.0947:0.3918:0.2226:0.2909	.	707;759	E7ETG2;A5YM65	.;.	A	807;707	ENSP00000256797:G807A;ENSP00000413812:G707A	ENSP00000256797:G807A	G	-	2	0	ERN2	23610885	0.002000	0.14202	0.002000	0.10522	0.133000	0.20885	0.046000	0.14035	-1.773000	0.01290	-2.187000	0.00313	GGA		PASS	0.632	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		73	186	73	186	---	---	---	---
ABCC11	85320	broad.mit.edu	37	16	48249217	48249217	+	Silent	SNP	G	G	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr16:48249217G>A	ENST00000394747.1	-	7	1339	c.990C>T	c.(988-990)caC>caT	p.H330H	ABCC11_ENST00000356608.2_Silent_p.H330H|ABCC11_ENST00000537808.1_Silent_p.H330H|ABCC11_ENST00000353782.5_Silent_p.H330H|ABCC11_ENST00000394748.1_Silent_p.H330H	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	330	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.H330H(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CCTCAGATGTGTGATGCTGAG	0.468																																						uc002eff.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(988-990)CAC>CAT		ATP-binding cassette, sub-family C, member 11							117.0	107.0	110.0					16																	48249217		2201	4300	6501	SO:0001819	synonymous_variant	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48249217G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.990C>T	16.37:g.48249217G>A						ABCC11_uc002efg.1_Silent_p.H330H|ABCC11_uc002efh.1_Silent_p.H330H|ABCC11_uc010vgk.1_RNA	p.H330H	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			7	1340	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	330			ABC transmembrane type-1 1.		Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	c.990C>T	CCDS10732.1																																																																																				PASS	0.468	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		21	58	21	58	---	---	---	---
LONP2	83752	broad.mit.edu	37	16	48304001	48304001	+	Missense_Mutation	SNP	G	G	T	rs375122667		TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr16:48304001G>T	ENST00000285737.4	+	7	1150	c.1057G>T	c.(1057-1059)Gta>Tta	p.V353L	LONP2_ENST00000535754.1_Missense_Mutation_p.V309L	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal									p.V353L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GAAGAAAAGAGTACTGGAATA	0.448																																						uc002efi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1057-1059)GTA>TTA		peroxisomal LON protease-like							75.0	72.0	73.0					16																	48304001		2200	4300	6500	SO:0001583	missense	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48304001G>T	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1057G>T	16.37:g.48304001G>T	ENSP00000285737:p.Val353Leu					LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.V309L	p.V353L	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN			7	1146	+			353						Missense_Mutation	SNP	ENST00000285737.4	37	c.1057G>T	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211553	0.95069	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	T;T;T	0.32988	1.43;1.43;1.43	5.64	5.64	0.86602	.	0.056024	0.64402	N	0.000001	T	0.47116	0.1428	L	0.31752	0.955	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.991;0.994	T	0.46317	-0.9200	10	0.87932	D	0	-18.9892	19.7174	0.96129	0.0:0.0:1.0:0.0	.	309;353	B7ZKL7;Q86WA8	.;LONP2_HUMAN	L	353;82;309;309	ENSP00000285737:V353L;ENSP00000445426:V309L;ENSP00000415983:V309L	ENSP00000285737:V353L	V	+	1	0	LONP2	46861502	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.837000	0.99465	2.653000	0.90120	0.655000	0.94253	GTA		PASS	0.448	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		22	63	22	63	---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49764751	49764751	+	Missense_Mutation	SNP	C	C	A	rs149531360		TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr16:49764751C>A	ENST00000561648.1	-	3	261	c.208G>T	c.(208-210)Gat>Tat	p.D70Y	ZNF423_ENST00000563137.2_Missense_Mutation_p.D10Y|ZNF423_ENST00000262383.2_Missense_Mutation_p.D70Y|ZNF423_ENST00000562871.1_Missense_Mutation_p.D10Y|ZNF423_ENST00000562520.1_Missense_Mutation_p.D10Y	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	70					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D70Y(2)|p.D70N(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGACAGTGATCGCAGGTGTAA	0.542																																						uc002efs.2																			4	Substitution - Missense(4)		lung(2)|pancreas(2)	ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(208-210)GAT>TAT		zinc finger protein 423							343.0	275.0	298.0					16																	49764751		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49764751C>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.208G>T	16.37:g.49764751C>A	ENSP00000455426:p.Asp70Tyr						p.D70Y	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			4	506	-		all_cancers(37;0.0155)	70			C2H2-type 1; degenerate.		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.208G>T	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272525	0.80580	.	.	ENSG00000102935	ENST00000262383	T	0.33654	1.4	5.15	5.15	0.70609	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000001	T	0.49490	0.1560	L	0.29908	0.895	0.53005	D	0.999964	D	0.89917	1.0	D	0.85130	0.997	T	0.38693	-0.9649	9	.	.	.	.	18.9931	0.92801	0.0:1.0:0.0:0.0	.	70	Q2M1K9	ZN423_HUMAN	Y	70	ENSP00000262383:D70Y	.	D	-	1	0	ZNF423	48322252	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.608000	0.74168	2.558000	0.86282	0.313000	0.20887	GAT		PASS	0.542	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		61	168	61	168	---	---	---	---
NOD2	64127	broad.mit.edu	37	16	50745745	50745745	+	Silent	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr16:50745745C>A	ENST00000300589.2	+	4	2028	c.1923C>A	c.(1921-1923)gcC>gcA	p.A641A	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	641					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.A641A(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CACCAATGGCCAGGCTCCTGC	0.592																																						uc002egm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1921-1923)GCC>GCA		nucleotide-binding oligomerization domain							58.0	53.0	55.0					16																	50745745		2198	4300	6498	SO:0001819	synonymous_variant	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50745745C>A	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1923C>A	16.37:g.50745745C>A						NOD2_uc010cbk.1_Silent_p.A614A|NOD2_uc002egl.1_Silent_p.A419A|NOD2_uc010cbl.1_Silent_p.A419A|NOD2_uc010cbm.1_Silent_p.A419A|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	p.A641A	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			4	2028	+		all_cancers(37;0.0156)	641					E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	ENST00000300589.2	37	c.1923C>A	CCDS10746.1																																																																																				PASS	0.592	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		19	57	19	57	---	---	---	---
LPCAT2	54947	broad.mit.edu	37	16	55579725	55579725	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr16:55579725G>A	ENST00000262134.5	+	9	1115	c.931G>A	c.(931-933)Gca>Aca	p.A311T		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	311					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)	p.A311T(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						GAATTTAATGGCAGAGTAAGT	0.299																																						uc002eie.3																			1	Substitution - Missense(1)		lung(1)		0						c.(931-933)GCA>ACA		lysophosphatidylcholine acyltransferase 2							86.0	86.0	86.0					16																	55579725		2198	4299	6497	SO:0001583	missense	54947				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr16:55579725G>A	AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"""EF-hand domain containing"""	26032	protein-coding gene	gene with protein product		612040	"""acyltransferase like 1"""	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.931G>A	16.37:g.55579725G>A	ENSP00000262134:p.Ala311Thr					LPCAT2_uc002eic.2_Missense_Mutation_p.A41T	p.A311T	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN			9	1112	+			311			Lumenal (Potential).		A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	ENST00000262134.5	37	c.931G>A	CCDS10753.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857239	0.91433	.	.	ENSG00000087253	ENST00000262134	D	0.93659	-3.26	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.97309	0.9120	M	0.93808	3.46	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	D	0.97799	1.0243	10	0.87932	D	0	-34.034	15.7255	0.77756	0.0:0.0:0.8628:0.1372	.	311	Q7L5N7	PCAT2_HUMAN	T	311	ENSP00000262134:A311T	ENSP00000262134:A311T	A	+	1	0	LPCAT2	54137226	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.352000	0.73027	2.865000	0.98341	0.655000	0.94253	GCA		PASS	0.299	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	NM_017839		23	73	23	73	---	---	---	---
SLC9A5	6553	broad.mit.edu	37	16	67289690	67289690	+	Silent	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr16:67289690C>T	ENST00000299798.11	+	5	833	c.768C>T	c.(766-768)gcC>gcT	p.A256A	SLC9A5_ENST00000561472.2_Intron	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	256					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.A256A(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GCGGGGCAGCCGTGGGCTTAG	0.652																																						uc002esm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(766-768)GCC>GCT		solute carrier family 9 (sodium/hydrogen							29.0	36.0	34.0					16																	67289690		2104	4226	6330	SO:0001819	synonymous_variant	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67289690C>T		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.768C>T	16.37:g.67289690C>T						SLC9A5_uc010cee.2_5'UTR|SLC9A5_uc010vji.1_Intron	p.A256A	NM_004594	NP_004585	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	5	831	+		Ovarian(137;0.0563)	256			Helical; (Potential).		A5PKY7|Q9Y626	Silent	SNP	ENST00000299798.11	37	c.768C>T	CCDS42178.1																																																																																				PASS	0.652	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			6	12	6	12	---	---	---	---
ZFP90	146198	broad.mit.edu	37	16	68597569	68597569	+	Silent	SNP	T	T	C			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr16:68597569T>C	ENST00000570495.1	+	5	1171	c.879T>C	c.(877-879)caT>caC	p.H293H	ZFP90_ENST00000563169.2_Silent_p.H293H|ZFP90_ENST00000398253.2_Silent_p.H293H			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	293					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	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 negative regulation of transcription (GO:0001078)	p.H293H(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CCTTCAGGCATAGCTCATCTC	0.488																																						uc010cff.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(877-879)CAT>CAC		zinc finger protein 90							84.0	93.0	90.0					16																	68597569		2184	4292	6476	SO:0001819	synonymous_variant	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68597569T>C	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.879T>C	16.37:g.68597569T>C						ZFP90_uc002ewb.2_Missense_Mutation_p.I99T|ZFP90_uc002ewc.2_Missense_Mutation_p.I99T|ZFP90_uc002ewd.2_Silent_p.H293H|ZFP90_uc002ewe.2_Silent_p.H293H	p.H293H	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	1171	+		Ovarian(137;0.192)	293			C2H2-type 3.		B2RU00|B3KVE7|Q49AD1|Q96MQ6	Silent	SNP	ENST00000570495.1	37	c.879T>C	CCDS42183.1																																																																																				PASS	0.488	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		16	93	16	93	---	---	---	---
ZFP90	146198	broad.mit.edu	37	16	68598059	68598059	+	Nonsense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr16:68598059G>T	ENST00000570495.1	+	5	1661	c.1369G>T	c.(1369-1371)Gaa>Taa	p.E457*	ZFP90_ENST00000563169.2_Nonsense_Mutation_p.E457*|ZFP90_ENST00000398253.2_Nonsense_Mutation_p.E457*			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	457					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	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 negative regulation of transcription (GO:0001078)	p.E457*(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		TGACTGTGGGGAAGACTTTAG	0.423																																						uc010cff.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1369-1371)GAA>TAA		zinc finger protein 90							121.0	116.0	118.0					16																	68598059		2012	4193	6205	SO:0001587	stop_gained	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68598059G>T	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1369G>T	16.37:g.68598059G>T	ENSP00000460547:p.Glu457*					ZFP90_uc002ewb.2_3'UTR|ZFP90_uc002ewc.2_3'UTR|ZFP90_uc002ewd.2_Nonsense_Mutation_p.E457*|ZFP90_uc002ewe.2_Nonsense_Mutation_p.E457*	p.E457*	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	1661	+		Ovarian(137;0.192)	457			C2H2-type 8.		B2RU00|B3KVE7|Q49AD1|Q96MQ6	Nonsense_Mutation	SNP	ENST00000570495.1	37	c.1369G>T	CCDS42183.1	.	.	.	.	.	.	.	.	.	.	G	36	5.834204	0.97003	.	.	ENSG00000184939	ENST00000398253	.	.	.	5.66	0.93	0.19454	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5722	3.5845	0.07966	0.4106:0.1905:0.3989:0.0	.	.	.	.	X	457	.	ENSP00000381304:E457X	E	+	1	0	ZFP90	67155560	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.221000	0.42917	0.404000	0.25506	0.655000	0.94253	GAA		PASS	0.423	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		31	100	31	100	---	---	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76501369	76501369	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr16:76501369C>A	ENST00000476707.1	+	9	1752	c.1613C>A	c.(1612-1614)tCc>tAc	p.S538Y	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S462Y|SNORD33_ENST00000516213.1_RNA|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.S534Y|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S486Y			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	535	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.S534Y(1)|p.S510Y(1)|p.S462Y(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAGCAGGGGTCCCTTGGGAAC	0.453																																						uc002feu.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)|pancreas(1)	2						c.(1603-1605)TCC>TAC		cell recognition protein CASPR4 isoform 1							109.0	102.0	105.0					16																	76501369		2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76501369C>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1613C>A	16.37:g.76501369C>A	ENSP00000417628:p.Ser538Tyr					CNTNAP4_uc002fev.1_Missense_Mutation_p.S399Y|CNTNAP4_uc010chb.1_Missense_Mutation_p.S462Y|CNTNAP4_uc002fex.1_Missense_Mutation_p.S538Y|CNTNAP4_uc002few.2_Missense_Mutation_p.S510Y	p.S535Y	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			12	1989	+			535			Extracellular (Potential).|Laminin G-like 2.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.1604C>A		.	.	.	.	.	.	.	.	.	.	C	10.70	1.424156	0.25639	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.42	4.4	0.53042	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	1.391920	0.04994	N	0.467934	T	0.70263	0.3204	.	.	.	0.09310	N	1	B;B;B;P	0.38767	0.209;0.402;0.134;0.646	B;B;B;B	0.37387	0.163;0.163;0.104;0.248	T	0.61466	-0.7057	9	0.62326	D	0.03	.	6.5202	0.22271	0.1788:0.6995:0.0:0.1217	.	462;538;510;535	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	Y	534;486;462;538	ENSP00000306893:S534Y;ENSP00000439733:S486Y;ENSP00000418741:S462Y;ENSP00000417628:S538Y	ENSP00000306893:S534Y	S	+	2	0	CNTNAP4	75058870	0.001000	0.12720	0.926000	0.36857	0.476000	0.33039	1.188000	0.32102	2.819000	0.97034	0.650000	0.86243	TCC		PASS	0.453	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		11	50	11	50	---	---	---	---
ENO3	2027	broad.mit.edu	37	17	4860153	4860153	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr17:4860153G>A	ENST00000323997.6	+	11	1336	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	ENO3_ENST00000518175.1_Missense_Mutation_p.E402K|ENO3_ENST00000519584.1_Missense_Mutation_p.E359K	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	402					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)	p.E402K(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						CTGCCGCTCGGAGCGTCTGGC	0.592											OREG0024110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002gab.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1204-1206)GAG>AAG		enolase 3							148.0	160.0	156.0					17																	4860153		2203	4300	6503	SO:0001583	missense	2027				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	g.chr17:4860153G>A	X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"""enolase 3, (beta, muscle)"""				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.1204G>A	17.37:g.4860153G>A	ENSP00000324105:p.Glu402Lys		OREG0024110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622	ENO3_uc002gac.3_Missense_Mutation_p.E402K|ENO3_uc010vss.1_Missense_Mutation_p.E359K|ENO3_uc010vst.1_Missense_Mutation_p.E229K	p.E402K	NM_053013	NP_443739	P13929	ENOB_HUMAN			11	1298	+			402					B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Missense_Mutation	SNP	ENST00000323997.6	37	c.1204G>A	CCDS11062.1	.	.	.	.	.	.	.	.	.	.	G	35	5.450408	0.96205	.	.	ENSG00000108515	ENST00000323997;ENST00000519584;ENST00000518175	D;D;D	0.86432	-2.12;-2.12;-2.12	5.32	5.32	0.75619	Enolase, C-terminal (1);	0.051511	0.85682	D	0.000000	D	0.95956	0.8683	H	0.97758	4.07	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.76575	0.988;0.953;0.988	D	0.97089	0.9789	10	0.87932	D	0	-27.6526	16.5841	0.84723	0.0:0.0:1.0:0.0	.	402;359;402	P13929;P13929-3;D3DTL2	ENOB_HUMAN;.;.	K	402;359;402	ENSP00000324105:E402K;ENSP00000430636:E359K;ENSP00000431087:E402K	ENSP00000324105:E402K	E	+	1	0	ENO3	4800877	1.000000	0.71417	0.990000	0.47175	0.962000	0.63368	7.821000	0.86641	2.786000	0.95864	0.585000	0.79938	GAG		PASS	0.592	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2			48	134	48	134	---	---	---	---
ALOXE3	59344	broad.mit.edu	37	17	8018962	8018962	+	Missense_Mutation	SNP	T	T	C	rs373520842		TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr17:8018962T>C	ENST00000448843.2	-	4	737	c.397A>G	c.(397-399)Agg>Ggg	p.R133G	ALOXE3_ENST00000380149.1_Missense_Mutation_p.R289G|ALOXE3_ENST00000318227.3_Missense_Mutation_p.R265G	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	133	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.R133G(1)|p.R265G(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TCCCGTGTCCTGTGATCCAGG	0.473																																						uc010cnr.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|lung(1)|central_nervous_system(1)	5						c.(397-399)AGG>GGG		arachidonate lipoxygenase 3 isoform 2		T	GLY/ARG,GLY/ARG	0,4406		0,0,2203	111.0	105.0	107.0		793,397	3.2	1.0	17		107	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ALOXE3	NM_001165960.1,NM_021628.2	125,125	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging	265/844,133/712	8018962	1,13005	2203	4300	6503	SO:0001583	missense	59344				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity	g.chr17:8018962T>C	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.397A>G	17.37:g.8018962T>C	ENSP00000400581:p.Arg133Gly					ALOXE3_uc002gka.2_Missense_Mutation_p.R289G|ALOXE3_uc010vuo.1_Missense_Mutation_p.R265G|ALOXE3_uc010vup.1_RNA	p.R133G	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN			4	767	-			133			Lipoxygenase.		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	c.397A>G	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	T	19.11	3.764506	0.69878	0.0	1.16E-4	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	D;D;D	0.89343	-2.5;-2.5;-2.5	5.44	3.16	0.36331	Lipoxygenase, C-terminal (2);	0.136950	0.64402	D	0.000006	D	0.94588	0.8256	M	0.91561	3.22	0.51767	D	0.999933	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.988;0.992;0.992	D	0.94112	0.7372	10	0.87932	D	0	-26.4891	9.525	0.39158	0.0:0.0:0.4433:0.5567	.	265;133;133	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	G	289;265;133	ENSP00000369494:R289G;ENSP00000314879:R265G;ENSP00000400581:R133G	ENSP00000314879:R265G	R	-	1	2	ALOXE3	7959687	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	0.811000	0.27198	0.863000	0.35553	0.379000	0.24179	AGG		PASS	0.473	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			3	84	3	84	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10297598	10297598	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr17:10297598C>A	ENST00000403437.2	-	35	5228	c.5134G>T	c.(5134-5136)Gcc>Tcc	p.A1712S	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1712					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.A1712S(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CGCTCACTGGCATCCAGGAGC	0.542									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.(5134-5136)GCC>TCC		myosin, heavy chain 8, skeletal muscle,							124.0	110.0	114.0					17																	10297598		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10297598C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5134G>T	17.37:g.10297598C>A	ENSP00000384330:p.Ala1712Ser					uc002gml.1_Intron	p.A1712S	NM_002472	NP_002463	P13535	MYH8_HUMAN			35	5229	-			1712			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.5134G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668016	0.47677	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.79940	-1.32	5.06	4.08	0.47627	Myosin tail (1);	0.000000	0.41396	U	0.000885	T	0.74703	0.3751	L	0.39020	1.185	0.40208	D	0.977592	B	0.21147	0.052	B	0.30251	0.113	T	0.72707	-0.4212	10	0.48119	T	0.1	.	13.8371	0.63415	0.0:0.9259:0.0:0.0741	.	1712	P13535	MYH8_HUMAN	S	1712	ENSP00000384330:A1712S	ENSP00000252173:A1712S	A	-	1	0	MYH8	10238323	0.994000	0.37717	0.996000	0.52242	0.982000	0.71751	2.593000	0.46180	1.353000	0.45828	0.650000	0.86243	GCC		PASS	0.542	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		29	61	29	61	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10443973	10443973	+	Missense_Mutation	SNP	C	C	A	rs199926461		TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr17:10443973C>A	ENST00000245503.5	-	11	1330	c.946G>T	c.(946-948)Gtc>Ttc	p.V316F	MYH2_ENST00000532183.2_Missense_Mutation_p.V316F|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.V316F|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	316	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.V316F(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCTTGACTGACAAATGGGTAA	0.378																																						uc010coi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(946-948)GTC>TTC		myosin heavy chain IIa							106.0	96.0	99.0					17																	10443973		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10443973C>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.946G>T	17.37:g.10443973C>A	ENSP00000245503:p.Val316Phe					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.V316F|MYH2_uc010coj.2_Missense_Mutation_p.V316F	p.V316F	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			11	1074	-			316			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.946G>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618125	0.66787	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	D;D;D	0.88046	-2.33;-2.33;-2.33	5.25	0.337	0.15966	Myosin head, motor domain (2);	0.213952	0.22667	U	0.057102	D	0.91727	0.7384	M	0.85197	2.74	0.25871	N	0.98371	P;P	0.39847	0.659;0.691	B;P	0.60789	0.303;0.879	D	0.84554	0.0646	10	0.72032	D	0.01	.	6.0329	0.19690	0.1333:0.584:0.0:0.2827	.	316;316	Q567P6;Q9UKX2	.;MYH2_HUMAN	F	316	ENSP00000433944:V316F;ENSP00000245503:V316F;ENSP00000380367:V316F	ENSP00000245503:V316F	V	-	1	0	MYH2	10384698	0.001000	0.12720	0.716000	0.30569	0.999000	0.98932	-0.111000	0.10807	0.237000	0.21200	0.650000	0.86243	GTC		PASS	0.378	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		23	55	23	55	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11837356	11837356	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr17:11837356C>A	ENST00000262442.4	+	65	12525	c.12457C>A	c.(12457-12459)Cca>Aca	p.P4153T	DNAH9_ENST00000454412.2_Missense_Mutation_p.P4077T|DNAH9_ENST00000608377.1_Missense_Mutation_p.P465T|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4153					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.P4153T(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTTCCCACTCCCAGGCAACAT	0.532																																						uc002gne.2																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(12457-12459)CCA>ACA		dynein, axonemal, heavy chain 9 isoform 2							89.0	90.0	89.0					17																	11837356		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11837356C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12457C>A	17.37:g.11837356C>A	ENSP00000262442:p.Pro4153Thr					DNAH9_uc010coo.2_Missense_Mutation_p.P3371T|DNAH9_uc002gnf.2_Missense_Mutation_p.P465T	p.P4153T	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	65	12525	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4153					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.12457C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478883	0.63849	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.49432	0.78;0.78;0.78	5.0	5.0	0.66597	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.81269	0.4787	H	0.99516	4.605	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.87541	0.2459	10	0.87932	D	0	.	12.221	0.54433	0.0:0.9221:0.0:0.0779	.	4153	Q9NYC9	DYH9_HUMAN	T	4153;4077;2659;465	ENSP00000262442:P4153T;ENSP00000414874:P4077T;ENSP00000379323:P465T	ENSP00000262442:P4153T	P	+	1	0	DNAH9	11778081	1.000000	0.71417	0.911000	0.35937	0.732000	0.41865	5.723000	0.68492	2.761000	0.94854	0.650000	0.86243	CCA		PASS	0.532	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		40	99	40	99	---	---	---	---
TMEM199	147007	broad.mit.edu	37	17	26708234	26708234	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr17:26708234G>T	ENST00000509083.1	+	6	568	c.544G>T	c.(544-546)Gcg>Tcg	p.A182S	SARM1_ENST00000457710.3_Silent_p.A127A|SARM1_ENST00000379061.4_3'UTR|CTB-96E2.3_ENST00000591482.1_RNA			Q8N511	TM199_HUMAN	transmembrane protein 199	182						integral component of membrane (GO:0016021)		p.A159A(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		ACCGCGTGGCGCGCATTGGGC	0.612																																						uc010crl.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(481-483)GCG>GCT		sterile alpha and TIR motif containing 1							46.0	38.0	40.0					17																	26708234		2203	4298	6501	SO:0001583	missense	23098				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity	g.chr17:26708234G>T	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498	ENST00000509083.1:c.544G>T	17.37:g.26708234G>T	ENSP00000427614:p.Ala182Ser					SARM1_uc010wah.1_Missense_Mutation_p.A182S|SARM1_uc010waj.1_RNA	p.A161A	NM_015077	NP_055892	Q6SZW1	SARM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	5	550	+	all_lung(13;0.000533)|Lung NSC(42;0.00171)		161						Silent	SNP	ENST00000509083.1	37	c.483G>T		.	.	.	.	.	.	.	.	.	.	G	20.3	3.974458	0.74246	.	.	ENSG00000244045	ENST00000509083	T	0.38401	1.14	5.01	-3.56	0.04626	.	0.000000	0.85682	D	0.000000	T	0.19287	0.0463	.	.	.	0.80722	D	1	B	0.13594	0.008	B	0.14023	0.01	T	0.03184	-1.1063	9	0.56958	D	0.05	-18.9833	1.7932	0.03056	0.1694:0.1829:0.1701:0.4777	.	182	E9PBQ3	.	S	182	ENSP00000427614:A182S	ENSP00000427614:A182S	A	+	1	0	TMEM199	23732361	0.001000	0.12720	0.991000	0.47740	0.980000	0.70556	-1.356000	0.02609	-0.423000	0.07394	0.563000	0.77884	GCG		PASS	0.612	TMEM199-201	KNOWN	basic|exp_conf	protein_coding	protein_coding		NM_152464		3	15	3	15	---	---	---	---
PNMT	5409	broad.mit.edu	37	17	37825907	37825907	+	Silent	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr17:37825907C>T	ENST00000269582.2	+	2	546	c.228C>T	c.(226-228)atC>atT	p.I76I	PNMT_ENST00000394246.1_5'UTR|PNMT_ENST00000581428.1_Silent_p.I76I	NM_002686.3	NP_002677.1	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	76					catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|epinephrine biosynthetic process (GO:0042418)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phenylethanolamine N-methyltransferase activity (GO:0004603)	p.I76I(1)		NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCACCCTCATCGACATTGGTT	0.632																																						uc002hsi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(226-228)ATC>ATT		phenylethanolamine N-methyltransferase							55.0	47.0	50.0					17																	37825907		2203	4299	6502	SO:0001819	synonymous_variant	5409				catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity	g.chr17:37825907C>T		CCDS11343.1	17q	2010-04-16			ENSG00000141744	ENSG00000141744	2.1.1.28		9160	protein-coding gene	gene with protein product		171190		PENT		3372503	Standard	NM_002686		Approved		uc002hsi.2	P11086	OTTHUMG00000133209	ENST00000269582.2:c.228C>T	17.37:g.37825907C>T							p.I76I	NM_002686	NP_002677	P11086	PNMT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		2	450	+	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		76						Silent	SNP	ENST00000269582.2	37	c.228C>T	CCDS11343.1																																																																																				PASS	0.632	PNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256923.2	NM_002686		7	52	7	52	---	---	---	---
GPATCH8	23131	broad.mit.edu	37	17	42476454	42476454	+	Missense_Mutation	SNP	C	C	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr17:42476454C>G	ENST00000591680.1	-	8	3021	c.2991G>C	c.(2989-2991)agG>agC	p.R997S	GPATCH8_ENST00000434000.1_Missense_Mutation_p.R919S	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	997	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R997S(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGGAAGGGCTCCTGGTGCTGC	0.602																																						uc002igw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(2989-2991)AGG>AGC		G patch domain containing 8							34.0	33.0	33.0					17																	42476454		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42476454C>G	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.2991G>C	17.37:g.42476454C>G	ENSP00000467556:p.Arg997Ser					GPATCH8_uc002igv.1_Missense_Mutation_p.R919S|GPATCH8_uc010wiz.1_Missense_Mutation_p.R919S	p.R997S	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	8	3055	-		Prostate(33;0.0181)	997			Ser-rich.		B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.2991G>C	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581411	0.46006	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.13089	2.62	5.2	0.368	0.16146	.	0.000000	0.85682	D	0.000000	T	0.07999	0.0200	L	0.32530	0.975	0.37428	D	0.913928	B	0.30236	0.274	B	0.24848	0.056	T	0.26087	-1.0113	10	0.38643	T	0.18	-20.1172	5.3395	0.15976	0.0:0.2426:0.4126:0.3448	.	997	Q9UKJ3	GPTC8_HUMAN	S	997;919	ENSP00000395016:R919S	ENSP00000335486:R997S	R	-	3	2	GPATCH8	39831980	0.221000	0.23642	1.000000	0.80357	0.995000	0.86356	-0.463000	0.06696	0.252000	0.21531	0.555000	0.69702	AGG		PASS	0.602	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		3	36	3	36	---	---	---	---
ADAM11	4185	broad.mit.edu	37	17	42849019	42849019	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr17:42849019C>T	ENST00000200557.6	+	5	618	c.449C>T	c.(448-450)tCc>tTc	p.S150F	ADAM11_ENST00000535346.1_5'UTR	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	150					integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S150F(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GCCGCCCTCTCCACCTGCCAG	0.687																																						uc002ihh.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(448-450)TCC>TTC		ADAM metallopeptidase domain 11 preproprotein							40.0	45.0	44.0					17																	42849019		2203	4300	6503	SO:0001583	missense	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42849019C>T	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.449C>T	17.37:g.42849019C>T	ENSP00000200557:p.Ser150Phe					ADAM11_uc010wjd.1_5'UTR	p.S150F	NM_002390	NP_002381	O75078	ADA11_HUMAN			5	449	+		Prostate(33;0.0959)	150					Q14808|Q14809|Q14810	Missense_Mutation	SNP	ENST00000200557.6	37	c.449C>T	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108248	0.37242	.	.	ENSG00000073670	ENST00000200557;ENST00000355638	T	0.10763	2.84	4.83	4.83	0.62350	Peptidase M12B, propeptide (1);	0.074330	0.53938	D	0.000042	T	0.41719	0.1171	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53570	-0.8420	10	0.87932	D	0	.	13.4297	0.61049	0.0:1.0:0.0:0.0	.	150	O75078	ADA11_HUMAN	F	150;50	ENSP00000200557:S150F	ENSP00000200557:S150F	S	+	2	0	ADAM11	40204545	1.000000	0.71417	0.902000	0.35471	0.854000	0.48673	6.353000	0.73032	2.236000	0.73375	0.561000	0.74099	TCC		PASS	0.687	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390		9	81	9	81	---	---	---	---
FAM117A	81558	broad.mit.edu	37	17	47794918	47794918	+	Silent	SNP	A	A	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr17:47794918A>G	ENST00000240364.2	-	6	946	c.867T>C	c.(865-867)caT>caC	p.H289H	FAM117A_ENST00000513602.1_Silent_p.H17H|RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000514018.1_5'Flank	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	289								p.H289H(1)		haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						CGGCACCCCGATGTTCCTCAT	0.632																																						uc002ipk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(865-867)CAT>CAC		family with sequence similarity 117, member A							40.0	38.0	38.0					17																	47794918		2195	4293	6488	SO:0001819	synonymous_variant	81558							g.chr17:47794918A>G	BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"""C/EBP induced protein"""					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.867T>C	17.37:g.47794918A>G						FAM117A_uc010wlz.1_Silent_p.H17H	p.H289H	NM_030802	NP_110429	Q9C073	F117A_HUMAN			6	936	-			289					B7Z7Q3	Silent	SNP	ENST00000240364.2	37	c.867T>C	CCDS11553.1																																																																																				PASS	0.632	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365736.1	NM_030802		4	62	4	62	---	---	---	---
TRIM25	7706	broad.mit.edu	37	17	54969297	54969297	+	Missense_Mutation	SNP	A	A	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr17:54969297A>T	ENST00000316881.4	-	9	1706	c.1657T>A	c.(1657-1659)Tgg>Agg	p.W553R	TRIM25_ENST00000537230.1_Missense_Mutation_p.W553R|MIR3614_ENST00000581261.1_RNA|TRIM25_ENST00000573108.1_5'Flank|RP11-670E13.5_ENST00000574826.1_RNA	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	553	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|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 ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.W553R(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					GTGTTGAACCACTCCACGCAC	0.602																																						uc002iut.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)|skin(1)	3						c.(1657-1659)TGG>AGG		tripartite motif-containing 25							86.0	75.0	79.0					17																	54969297		2203	4300	6503	SO:0001583	missense	7706				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:54969297A>T	D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.1657T>A	17.37:g.54969297A>T	ENSP00000323889:p.Trp553Arg					TRIM25_uc010dcj.2_Missense_Mutation_p.W345R	p.W553R	NM_005082	NP_005073	Q14258	TRI25_HUMAN			9	1717	-	Breast(9;6.15e-08)		553			B30.2/SPRY.			Missense_Mutation	SNP	ENST00000316881.4	37	c.1657T>A	CCDS11591.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.307988	0.81247	.	.	ENSG00000121060	ENST00000316881;ENST00000537230	T;T	0.60424	0.19;0.19	4.72	3.64	0.41730	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.52532	D	0.000070	T	0.56093	0.1962	N	0.21142	0.635	0.52099	D	0.999949	D	0.89917	1.0	D	0.74023	0.982	T	0.49194	-0.8965	10	0.13853	T	0.58	.	9.6494	0.39888	0.9171:0.0:0.0829:0.0	.	553	Q14258	TRI25_HUMAN	R	553	ENSP00000323889:W553R;ENSP00000445961:W553R	ENSP00000323889:W553R	W	-	1	0	TRIM25	52324296	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.966000	0.70395	1.761000	0.52028	0.418000	0.28097	TGG		PASS	0.602	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082		15	63	15	63	---	---	---	---
RGS9	8787	broad.mit.edu	37	17	63198196	63198196	+	Nonsense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr17:63198196C>A	ENST00000262406.9	+	14	1129	c.1062C>A	c.(1060-1062)taC>taA	p.Y354*	RGS9_ENST00000443584.3_Nonsense_Mutation_p.Y351*|RGS9_ENST00000449996.3_Nonsense_Mutation_p.Y351*	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	354	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.Y354*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						AGGAGATTTACAAGTGAGCAT	0.522																																						uc002jfe.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1060-1062)TAC>TAA		regulator of G-protein signaling 9 isoform 1							73.0	74.0	74.0					17																	63198196		1962	4158	6120	SO:0001587	stop_gained	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63198196C>A	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1062C>A	17.37:g.63198196C>A	ENSP00000262406:p.Tyr354*					RGS9_uc010dem.2_Nonsense_Mutation_p.Y351*|RGS9_uc002jfd.2_Nonsense_Mutation_p.Y351*|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Nonsense_Mutation_p.Y125*	p.Y354*	NM_003835	NP_003826	O75916	RGS9_HUMAN			14	1172	+			354			RGS.		A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Nonsense_Mutation	SNP	ENST00000262406.9	37	c.1062C>A	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	C	38	7.133980	0.98085	.	.	ENSG00000108370	ENST00000262406;ENST00000449996;ENST00000443584	.	.	.	5.81	5.81	0.92471	.	0.184175	0.49916	D	0.000136	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0826	0.97783	0.0:1.0:0.0:0.0	.	.	.	.	X	354;351;354	.	ENSP00000262406:Y354X	Y	+	3	2	RGS9	60628658	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.863000	0.69568	2.746000	0.94184	0.655000	0.94253	TAC		PASS	0.522	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		11	62	11	62	---	---	---	---
DNAI2	64446	broad.mit.edu	37	17	72285877	72285877	+	Splice_Site	SNP	T	T	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr17:72285877T>A	ENST00000311014.6	+	5	677		c.e5+2		DNAI2_ENST00000446837.2_Splice_Site|DNAI2_ENST00000579490.1_Splice_Site|DNAI2_ENST00000307504.5_Splice_Site|DNAI2_ENST00000582036.1_Splice_Site			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2						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.?(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						GGGACCTGGGTGAGAAGCAGC	0.627									Kartagener syndrome																													uc002jkf.2																			1	Unknown(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.e5+2		dynein, axonemal, intermediate polypeptide 2							54.0	52.0	52.0					17																	72285877		2203	4300	6503	SO:0001630	splice_region_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.chr17:72285877T>A	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.610+2T>A	17.37:g.72285877T>A						DNAI2_uc002jkg.2_Splice_Site|DNAI2_uc010dfp.2_Splice_Site	p.E204_splice	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN			5	709	+								C9J0S6|Q8IUW4|Q9H179|Q9NT53	Splice_Site	SNP	ENST00000311014.6	37	c.610_splice	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.156023	0.78114	.	.	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1388	0.65306	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAI2	69797472	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.272000	0.78516	1.750000	0.51863	0.402000	0.26972	.		PASS	0.627	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036	Intron	14	50	14	50	---	---	---	---
TBC1D16	125058	broad.mit.edu	37	17	77923628	77923628	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr17:77923628C>T	ENST00000310924.2	-	7	1409	c.1294G>A	c.(1294-1296)Ggg>Agg	p.G432R	TBC1D16_ENST00000570373.1_Missense_Mutation_p.G71R|TBC1D16_ENST00000576768.1_Intron|TBC1D16_ENST00000340848.7_Missense_Mutation_p.G70R|TBC1D16_ENST00000572862.1_Missense_Mutation_p.G70R	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	432	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)	p.G432R(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CAGACCTCCCCGCGGATTGAC	0.577																																					Ovarian(14;397 562 4850 31922 49378)	uc002jxj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1294-1296)GGG>AGG		TBC1 domain family, member 16							37.0	41.0	39.0					17																	77923628		2202	4300	6502	SO:0001583	missense	125058					intracellular	Rab GTPase activator activity	g.chr17:77923628C>T	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.1294G>A	17.37:g.77923628C>T	ENSP00000309794:p.Gly432Arg					TBC1D16_uc002jxh.2_Missense_Mutation_p.G70R|TBC1D16_uc002jxi.2_Intron|TBC1D16_uc002jxk.1_Missense_Mutation_p.G70R	p.G432R	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		7	1410	-	all_neural(118;0.167)		432			Rab-GAP TBC.		B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Missense_Mutation	SNP	ENST00000310924.2	37	c.1294G>A	CCDS11766.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.454364	0.43634	.	.	ENSG00000167291	ENST00000340848;ENST00000310924	T;T	0.12147	2.71;2.71	4.79	4.79	0.61399	Rab-GAP/TBC domain (4);	0.168073	0.52532	D	0.000072	T	0.12263	0.0298	L	0.33339	1.005	0.80722	D	1	B;B;B	0.30634	0.122;0.288;0.072	B;B;B	0.29785	0.069;0.107;0.041	T	0.12967	-1.0527	10	0.16896	T	0.51	-36.3739	17.8354	0.88694	0.0:1.0:0.0:0.0	.	92;432;70	Q96DH7;Q8TBP0;Q8N3Z4	.;TBC16_HUMAN;.	R	70;432	ENSP00000341517:G70R;ENSP00000309794:G432R	ENSP00000309794:G432R	G	-	1	0	TBC1D16	75538223	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	7.649000	0.83500	2.192000	0.70111	0.585000	0.79938	GGG		PASS	0.577	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		7	69	7	69	---	---	---	---
PIEZO2	63895	broad.mit.edu	37	18	10696398	10696398	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr18:10696398C>A	ENST00000503781.3	-	42	6627	c.6628G>T	c.(6628-6630)Gcc>Tcc	p.A2210S	PIEZO2_ENST00000580640.1_Missense_Mutation_p.A2235S|PIEZO2_ENST00000302079.6_Missense_Mutation_p.A2210S|PIEZO2_ENST00000285141.4_Missense_Mutation_p.A65S|PIEZO2_ENST00000538948.1_Missense_Mutation_p.A167S	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2210					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)	p.A2210S(1)|p.A65S(1)									ACCCCAAAGGCCCAAAAGCCG	0.547																																						uc002kor.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(499-501)GCC>TCC		family with sequence similarity 38, member B							115.0	94.0	101.0					18																	10696398		2203	4300	6503	SO:0001583	missense	63895					integral to membrane	ion channel activity	g.chr18:10696398C>A	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.6628G>T	18.37:g.10696398C>A	ENSP00000421377:p.Ala2210Ser					FAM38B_uc002koq.2_Missense_Mutation_p.A65S	p.A167S	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN			4	639	-			2210			Helical; (Potential).		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	ENST00000503781.3	37	c.499G>T		.	.	.	.	.	.	.	.	.	.	C	33	5.272279	0.95429	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	D;D;D	0.85629	-2.01;-2.01;-2.01	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000006	D	0.87849	0.6281	L	0.50919	1.6	0.80722	D	1	D	0.69078	0.997	P	0.56434	0.798	D	0.84800	0.0784	10	0.20519	T	0.43	.	18.8735	0.92325	0.0:1.0:0.0:0.0	.	167	D6RFZ0	.	S	167;2210;167;65	ENSP00000303316:A2210S;ENSP00000443129:A167S;ENSP00000285141:A65S	ENSP00000285141:A65S	A	-	1	0	FAM38B	10686398	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.694000	0.84235	2.462000	0.83206	0.655000	0.94253	GCC		PASS	0.547	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		19	66	19	66	---	---	---	---
PIEZO2	63895	broad.mit.edu	37	18	10696517	10696517	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr18:10696517G>T	ENST00000503781.3	-	42	6508	c.6509C>A	c.(6508-6510)cCc>cAc	p.P2170H	PIEZO2_ENST00000580640.1_Missense_Mutation_p.P2195H|PIEZO2_ENST00000302079.6_Missense_Mutation_p.P2170H|PIEZO2_ENST00000285141.4_Missense_Mutation_p.P25H|PIEZO2_ENST00000538948.1_Missense_Mutation_p.P127H	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2170					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)	p.P2170H(1)|p.P25H(1)									CTGTTTGATGGGCACATAGAT	0.517																																						uc002kor.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(379-381)CCC>CAC		family with sequence similarity 38, member B							148.0	131.0	137.0					18																	10696517		2203	4300	6503	SO:0001583	missense	63895					integral to membrane	ion channel activity	g.chr18:10696517G>T	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.6509C>A	18.37:g.10696517G>T	ENSP00000421377:p.Pro2170His					FAM38B_uc002koq.2_Missense_Mutation_p.P25H	p.P127H	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN			4	520	-			2170					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	ENST00000503781.3	37	c.380C>A		.	.	.	.	.	.	.	.	.	.	G	20.2	3.957899	0.73902	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	T;T;T	0.34072	1.38;1.38;1.38	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000007	T	0.63745	0.2537	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68447	-0.5406	10	0.87932	D	0	.	18.7554	0.91830	0.0:0.0:1.0:0.0	.	127	D6RFZ0	.	H	127;2170;127;25	ENSP00000303316:P2170H;ENSP00000443129:P127H;ENSP00000285141:P25H	ENSP00000285141:P25H	P	-	2	0	FAM38B	10686517	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	9.768000	0.98965	2.436000	0.82500	0.655000	0.94253	CCC		PASS	0.517	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		18	89	18	89	---	---	---	---
DSC3	1825	broad.mit.edu	37	18	28598197	28598197	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr18:28598197G>T	ENST00000360428.4	-	9	1183	c.1103C>A	c.(1102-1104)gCa>gAa	p.A368E	DSC3_ENST00000434452.1_Missense_Mutation_p.A368E	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	368	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.A368E(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CACATTGAATGCATTTTCCTC	0.279																																						uc002kwj.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(1102-1104)GCA>GAA		desmocollin 3 isoform Dsc3a preproprotein							54.0	51.0	52.0					18																	28598197		2202	4293	6495	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28598197G>T	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1103C>A	18.37:g.28598197G>T	ENSP00000353608:p.Ala368Glu					DSC3_uc002kwi.3_Missense_Mutation_p.A368E	p.A368E	NM_001941	NP_001932	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		9	1258	-			368			Cadherin 3.|Extracellular (Potential).		A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.1103C>A	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.342450	0.01277	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.54071	0.59;0.59	5.36	2.62	0.31277	Cadherin (3);Cadherin-like (1);	1.129960	0.06989	N	0.821195	T	0.33962	0.0881	N	0.16743	0.435	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.12156	0.007;0.004	T	0.25745	-1.0123	10	0.38643	T	0.18	.	2.8163	0.05457	0.1413:0.1218:0.4867:0.2502	.	368;368	Q14574;Q14574-2	DSC3_HUMAN;.	E	368	ENSP00000353608:A368E;ENSP00000392068:A368E	ENSP00000353608:A368E	A	-	2	0	DSC3	26852195	0.000000	0.05858	0.003000	0.11579	0.228000	0.25075	0.094000	0.15107	0.403000	0.25479	-0.232000	0.12228	GCA		PASS	0.279	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		16	32	16	32	---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31325404	31325404	+	Silent	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr18:31325404C>A	ENST00000269197.5	+	12	5592	c.5592C>A	c.(5590-5592)ggC>ggA	p.G1864G		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1864					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.G1864G(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCAGTTCCGGCATCAGTCAGC	0.463																																						uc010dmg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(5590-5592)GGC>GGA		additional sex combs like 3							203.0	205.0	204.0					18																	31325404		2060	4188	6248	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31325404C>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5592C>A	18.37:g.31325404C>A						ASXL3_uc002kxq.2_Silent_p.G1571G	p.G1864G	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	5647	+			1864					Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.5592C>A	CCDS45847.1																																																																																				PASS	0.463	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			78	222	78	222	---	---	---	---
ZNF271	10778	broad.mit.edu	37	18	32887790	32887790	+	RNA	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr18:32887790G>T	ENST00000399070.3	+	0	2184					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						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.C401F(1)		large_intestine(3)|lung(9)	12						CCTTTAGTGTGTACACCAACT	0.363																																						uc002kyq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1201-1203)TGT>TTT		SubName: Full=cDNA FLJ13394 fis, clone PLACE1001304, highly similar to Homo sapiens zinc finger protein 271 (ZNF271), mRNA;							73.0	65.0	68.0					18																	32887790		2203	4300	6503			10778							g.chr18:32887790G>T	X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32887790G>T						ZNF271_uc002kyp.3_Missense_Mutation_p.C401F|ZNF271_uc002kyr.3_Missense_Mutation_p.C401F	p.C401F	NR_024565						3	2194	+								B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	Missense_Mutation	SNP	ENST00000399070.3	37	c.1202G>T																																																																																					PASS	0.363	ZNF271-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255767.2	NR_024565		14	45	14	45	---	---	---	---
RIT2	6014	broad.mit.edu	37	18	40695401	40695401	+	Silent	SNP	T	T	C			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr18:40695401T>C	ENST00000326695.5	-	1	255	c.84A>G	c.(82-84)gcA>gcG	p.A28A	RIT2_ENST00000589109.1_Silent_p.A28A|RIT2_ENST00000282028.4_Silent_p.A28A|RIT2_ENST00000590910.1_Silent_p.A28A	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	28					neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.A28A(1)		endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAACTCCCCCTGCTCCCAGCA	0.517																																						uc002lav.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(82-84)GCA>GCG		Ras-like without CAAX 2							127.0	125.0	126.0					18																	40695401		2203	4300	6503	SO:0001819	synonymous_variant	6014				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr18:40695401T>C	BC018060	CCDS11921.1, CCDS62431.1	18q12.3	2014-05-09	2002-09-11	2002-09-13	ENSG00000152214	ENSG00000152214			10017	protein-coding gene	gene with protein product		609592	"""Ric (Drosophila)-like, expressed in neurons"""	RIN		8824319, 8918462	Standard	NM_002930		Approved	RIBA	uc002lav.4	Q99578	OTTHUMG00000132611	ENST00000326695.5:c.84A>G	18.37:g.40695401T>C						RIT2_uc010dnf.2_Silent_p.A28A	p.A28A	NM_002930	NP_002921	Q99578	RIT2_HUMAN			1	257	-			28			GTP (By similarity).		B2R9L1|O15295|Q8TD69|Q8WVF6|Q92964	Silent	SNP	ENST00000326695.5	37	c.84A>G	CCDS11921.1																																																																																				PASS	0.517	RIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255852.1	NM_002930		44	110	44	110	---	---	---	---
FGF22	27006	broad.mit.edu	37	19	643539	643539	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:643539C>T	ENST00000215530.5	+	3	479	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	FGF22_ENST00000166133.3_Missense_Mutation_p.R109W|FGF22_ENST00000586042.2_Missense_Mutation_p.P142L	NM_020637.1	NP_065688.1	Q9HCT0	FGF22_HUMAN	fibroblast growth factor 22	150					cell differentiation (GO:0030154)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)		p.R150W(1)		endometrium(1)|lung(1)|prostate(1)	3		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		gggggggccccggccaggcgg	0.736																																						uc010xfq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(448-450)CGG>TGG		fibroblast growth factor 22 precursor							8.0	10.0	9.0					19																	643539		2130	4143	6273	SO:0001583	missense	27006				cell differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular space	growth factor activity	g.chr19:643539C>T		CCDS12037.1, CCDS74241.1	19p13.3	2008-07-04				ENSG00000070388			3679	protein-coding gene	gene with protein product		605831				15260994, 16597617	Standard	NM_020637		Approved		uc010xfq.2	Q9HCT0		ENST00000215530.5:c.448C>T	19.37:g.643539C>T	ENSP00000215530:p.Arg150Trp					FGF22_uc010xfr.1_Missense_Mutation_p.P142L	p.R150W	NM_020637	NP_065688	Q9HCT0	FGF22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	448	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	150					B2RPH4	Missense_Mutation	SNP	ENST00000215530.5	37	c.448C>T	CCDS12037.1	.	.	.	.	.	.	.	.	.	.	c	14.71	2.615939	0.46631	.	.	ENSG00000070388	ENST00000215530;ENST00000166133	D;D	0.84370	-1.84;-1.84	4.38	1.92	0.25849	.	0.000000	0.64402	D	0.000001	D	0.92756	0.7697	M	0.91561	3.22	0.29051	N	0.884513	D	0.89917	1.0	D	0.81914	0.995	D	0.88485	0.3071	10	0.87932	D	0	.	11.7862	0.52043	0.6069:0.3931:0.0:0.0	.	150	Q9HCT0	FGF22_HUMAN	W	150;109	ENSP00000215530:R150W;ENSP00000166133:R109W	ENSP00000166133:R109W	R	+	1	2	FGF22	594539	0.022000	0.18835	0.018000	0.16275	0.238000	0.25445	0.307000	0.19296	0.100000	0.17581	0.561000	0.74099	CGG		PASS	0.736	FGF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452103.1			4	16	4	16	---	---	---	---
MISP	126353	broad.mit.edu	37	19	758684	758684	+	Nonsense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:758684G>T	ENST00000215582.6	+	2	1841	c.1738G>T	c.(1738-1740)Gag>Tag	p.E580*		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	580					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.E580*(1)									AACGCCAGATGAGAACTCTGA	0.617																																						uc002lpo.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1738-1740)GAG>TAG		hypothetical protein LOC126353							42.0	44.0	43.0					19																	758684		2203	4300	6503	SO:0001587	stop_gained	126353							g.chr19:758684G>T	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.1738G>T	19.37:g.758684G>T	ENSP00000215582:p.Glu580*						p.E580*	NM_173481	NP_775752	Q8IVT2	CS021_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1821	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)	580						Nonsense_Mutation	SNP	ENST00000215582.6	37	c.1738G>T	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	G	32	5.134127	0.94517	.	.	ENSG00000099812	ENST00000215582	.	.	.	3.48	2.39	0.29439	.	3.456080	0.01417	N	0.014227	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-6.1433	10.6899	0.45864	0.0:0.1955:0.8045:0.0	.	.	.	.	X	580	.	ENSP00000215582:E580X	E	+	1	0	C19orf21	709684	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.229000	0.09098	0.712000	0.32039	0.555000	0.69702	GAG		PASS	0.617	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		11	59	11	59	---	---	---	---
C19orf26	255057	broad.mit.edu	37	19	1233530	1233530	+	Missense_Mutation	SNP	T	T	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:1233530T>G	ENST00000382477.2	-	8	1208	c.934A>C	c.(934-936)Acc>Ccc	p.T312P	C19orf26_ENST00000590083.1_Missense_Mutation_p.T292P|C19orf26_ENST00000215376.6_Missense_Mutation_p.T286P			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	312						integral component of membrane (GO:0016021)		p.T286P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCAGGCGGGTGAGGAACTGC	0.697										HNSCC(14;0.022)																												uc002lrm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(856-858)ACC>CCC		downstream of Stk11																																				SO:0001583	missense	255057					integral to membrane		g.chr19:1233530T>G	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.934A>C	19.37:g.1233530T>G	ENSP00000371917:p.Thr312Pro	HNSCC(14;0.022)					p.T286P	NM_152769	NP_689982	Q8N350	DOS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1131	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	312					O43385	Missense_Mutation	SNP	ENST00000382477.2	37	c.856A>C		.	.	.	.	.	.	.	.	.	.	T	16.47	3.133294	0.56828	.	.	ENSG00000099625	ENST00000382477;ENST00000215376	T;T	0.20200	2.09;2.09	4.08	1.84	0.25277	.	0.286229	0.32161	N	0.006495	T	0.28267	0.0698	M	0.63843	1.955	0.39322	D	0.965261	D	0.53745	0.962	P	0.52481	0.7	T	0.04320	-1.0960	10	0.72032	D	0.01	.	5.9086	0.19014	0.0:0.0926:0.1662:0.7412	.	286	Q8N350-2	.	P	312;286	ENSP00000371917:T312P;ENSP00000215376:T286P	ENSP00000215376:T286P	T	-	1	0	C19orf26	1184530	1.000000	0.71417	0.474000	0.27266	0.693000	0.40251	0.737000	0.26144	0.192000	0.20272	0.418000	0.28097	ACC		PASS	0.697	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		4	12	4	12	---	---	---	---
EEF2	1938	broad.mit.edu	37	19	3977846	3977846	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:3977846C>A	ENST00000309311.6	-	12	2126	c.2038G>T	c.(2038-2040)Gtg>Ttg	p.V680L		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	680					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)	p.V680L(1)		endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGCCGGCCACCACACTGTCC	0.622																																					Colon(165;1804 1908 4071 6587 18799)	uc002lze.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2038-2040)GTG>TTG		eukaryotic translation elongation factor 2							84.0	79.0	81.0					19																	3977846		2203	4300	6503	SO:0001583	missense	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3977846C>A	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.2038G>T	19.37:g.3977846C>A	ENSP00000307940:p.Val680Leu						p.V680L	NM_001961	NP_001952	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	12	2121	-		Hepatocellular(1079;0.137)	680					B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	ENST00000309311.6	37	c.2038G>T	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226535	0.79576	.	.	ENSG00000167658	ENST00000309311	T	0.44083	0.93	5.42	5.42	0.78866	Ribosomal protein S5 domain 2-type fold (1);Translation elongation factor EFG/EF2, domain IV (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.57932	0.2087	M	0.89030	3	0.80722	D	1	B	0.32396	0.369	B	0.38428	0.273	T	0.64664	-0.6354	10	0.66056	D	0.02	-45.0773	17.7664	0.88478	0.0:1.0:0.0:0.0	.	680	P13639	EF2_HUMAN	L	680	ENSP00000307940:V680L	ENSP00000307940:V680L	V	-	1	0	EEF2	3928846	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.960000	0.70348	2.537000	0.85549	0.486000	0.48141	GTG		PASS	0.622	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		26	95	26	95	---	---	---	---
SH2D3A	10045	broad.mit.edu	37	19	6763757	6763757	+	Start_Codon_SNP	SNP	C	C	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:6763757C>G	ENST00000245908.6	-	2	272	c.3G>C	c.(1-3)atG>atC	p.M1I	SH2D3A_ENST00000437152.3_5'UTR|SH2D3A_ENST00000599563.1_5'Flank	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	1					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)	p.M1I(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GTGGCACCTGCATGGAGCTCT	0.577																																						uc002mft.2																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1-3)ATG>ATC		SH2 domain containing 3A							73.0	61.0	65.0					19																	6763757		2203	4300	6503	SO:0001582	initiator_codon_variant	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6763757C>G	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.3G>C	19.37:g.6763757C>G	ENSP00000245908:p.Met1Ile					SH2D3A_uc010xjg.1_5'UTR	p.M1I	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN			2	197	-			1					A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	ENST00000245908.6	37	c.3G>C	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580100	0.46006	.	.	ENSG00000125731	ENST00000245908	T	0.13657	2.57	3.88	3.88	0.44766	.	0.190807	0.25636	U	0.029315	T	0.12347	0.0300	.	.	.	0.80722	D	1	B	0.22003	0.063	B	0.14023	0.01	T	0.05550	-1.0878	9	0.87932	D	0	-18.1278	11.532	0.50616	0.0:1.0:0.0:0.0	.	1	Q9BRG2	SH23A_HUMAN	I	1	ENSP00000245908:M1I	ENSP00000245908:M1I	M	-	3	0	SH2D3A	6714757	1.000000	0.71417	0.999000	0.59377	0.775000	0.43874	3.522000	0.53480	2.176000	0.68965	0.655000	0.94253	ATG		PASS	0.577	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490	Missense_Mutation	6	69	6	69	---	---	---	---
CLEC4G	339390	broad.mit.edu	37	19	7795279	7795279	+	Missense_Mutation	SNP	T	T	C			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:7795279T>C	ENST00000328853.5	-	6	504	c.436A>G	c.(436-438)Act>Gct	p.T146A	CLEC4G_ENST00000598081.1_5'Flank	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	146						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.T146A(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						AACAGCTCAGTGCGGACGTCC	0.701																																					Esophageal Squamous(146;540 1807 3349 19438 30853)	uc002mhp.3																			1	Substitution - Missense(1)		lung(1)		0						c.(436-438)ACT>GCT		C-type lectin domain family 4, member G							28.0	33.0	31.0					19																	7795279		2201	4290	6491	SO:0001583	missense	339390					integral to membrane	protein binding|sugar binding	g.chr19:7795279T>C	AY358431	CCDS12185.1	19p13.2	2010-04-27	2008-11-04			ENSG00000182566		"""C-type lectin domain containing"""	24591	protein-coding gene	gene with protein product			"""C-type lectin superfamily 4, member G"""			12975309	Standard	NM_198492		Approved	UNQ431, LSECtin	uc002mhp.4	Q6UXB4		ENST00000328853.5:c.436A>G	19.37:g.7795279T>C	ENSP00000327599:p.Thr146Ala						p.T146A	NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN			6	505	-			146			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000328853.5	37	c.436A>G	CCDS12185.1	.	.	.	.	.	.	.	.	.	.	T	10.68	1.417386	0.25552	.	.	ENSG00000182566	ENST00000328853;ENST00000381308	T	0.00986	5.47	5.62	4.59	0.56863	.	1.123670	0.06923	N	0.809790	T	0.01029	0.0034	N	0.19112	0.55	0.21719	N	0.999576	B	0.30406	0.278	B	0.24974	0.057	T	0.53143	-0.8480	10	0.52906	T	0.07	.	9.735	0.40382	0.0:0.0:0.1743:0.8257	.	146	Q6UXB4	CLC4G_HUMAN	A	146;30	ENSP00000327599:T146A	ENSP00000327599:T146A	T	-	1	0	CLEC4G	7701279	0.076000	0.21285	0.096000	0.21009	0.047000	0.14425	0.234000	0.17930	0.936000	0.37367	-0.316000	0.08728	ACT		PASS	0.701	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461989.1	NM_198492		6	60	6	60	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9008248	9008248	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:9008248G>T	ENST00000397910.4	-	41	39507	c.39304C>A	c.(39304-39306)Cag>Aag	p.Q13102K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13104	SEA 7. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.Q13102K(1)|p.Q254K(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						TGGCTCAGCTGCCAGTACAGC	0.577																																						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.(39304-39306)CAG>AAG		mucin 16							170.0	156.0	160.0					19																	9008248		1990	4178	6168	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9008248G>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.39304C>A	19.37:g.9008248G>T	ENSP00000381008:p.Gln13102Lys					MUC16_uc010dwi.2_5'Flank|MUC16_uc010dwj.2_5'Flank|MUC16_uc010xki.1_Intron	p.Q13102K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			41	39508	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.39304C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	6.580	0.475414	0.12521	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.28454	1.61	2.04	2.04	0.26737	.	.	.	.	.	T	0.31606	0.0802	M	0.74546	2.27	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.34625	-0.9821	8	0.87932	D	0	-11.8174	6.5547	0.22454	0.0:0.696:0.304:0.0	.	13102	B5ME49	.	K	13102;255	ENSP00000381008:Q13102K	ENSP00000381008:Q13102K	Q	-	1	0	MUC16	8869248	0.377000	0.25106	0.164000	0.22755	0.008000	0.06430	1.183000	0.32041	0.418000	0.25898	-1.042000	0.02369	CAG		PASS	0.577	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		40	175	40	175	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9075049	9075049	+	Missense_Mutation	SNP	C	C	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:9075049C>G	ENST00000397910.4	-	3	12600	c.12397G>C	c.(12397-12399)Gag>Cag	p.E4133Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4135	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.E4133Q(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						GTGGTCTTCTCTGAGTATGTA	0.512																																						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.(12397-12399)GAG>CAG		mucin 16							131.0	123.0	126.0					19																	9075049		2055	4189	6244	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075049C>G	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.12397G>C	19.37:g.9075049C>G	ENSP00000381008:p.Glu4133Gln						p.E4133Q	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	12601	-			4135			Thr-rich.|Extracellular (Potential).|Ser-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.12397G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.143	0.212040	0.09757	.	.	ENSG00000181143	ENST00000397910	T	0.28255	1.62	1.94	-0.51	0.11973	.	.	.	.	.	T	0.32763	0.0840	L	0.43152	1.355	.	.	.	D	0.55172	0.97	P	0.55713	0.782	T	0.38735	-0.9647	8	0.87932	D	0	.	3.3067	0.07002	0.0:0.5499:0.2733:0.1768	.	4133	B5ME49	.	Q	4133	ENSP00000381008:E4133Q	ENSP00000381008:E4133Q	E	-	1	0	MUC16	8936049	0.031000	0.19500	0.006000	0.13384	0.167000	0.22549	-0.247000	0.08866	-0.028000	0.13850	0.313000	0.20887	GAG		PASS	0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		21	88	21	88	---	---	---	---
ZNF560	147741	broad.mit.edu	37	19	9577701	9577701	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:9577701G>T	ENST00000301480.4	-	10	2135	c.1922C>A	c.(1921-1923)tCc>tAc	p.S641Y		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	641					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.S641Y(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AACTAGACTGGAGGAGACAAC	0.393																																						uc002mlp.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						c.(1921-1923)TCC>TAC		zinc finger protein 560							110.0	111.0	111.0					19																	9577701		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9577701G>T	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1922C>A	19.37:g.9577701G>T	ENSP00000301480:p.Ser641Tyr					ZNF560_uc010dwr.1_Missense_Mutation_p.S535Y	p.S641Y	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN			10	2132	-			641			C2H2-type 11; degenerate.		Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.1922C>A	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450252	0.26074	.	.	ENSG00000198028	ENST00000301480	T	0.07567	3.18	2.02	0.959	0.19624	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22399	0.0540	M	0.75085	2.285	0.09310	N	1	D	0.89917	1.0	D	0.68192	0.956	T	0.04522	-1.0945	9	0.52906	T	0.07	.	6.6293	0.22847	0.1635:0.0:0.8365:0.0	.	641	Q96MR9	ZN560_HUMAN	Y	641	ENSP00000301480:S641Y	ENSP00000301480:S641Y	S	-	2	0	ZNF560	9438701	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.205000	0.17356	0.399000	0.25367	0.462000	0.41574	TCC		PASS	0.393	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		26	100	26	100	---	---	---	---
S1PR5	53637	broad.mit.edu	37	19	10625146	10625146	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:10625146G>A	ENST00000439028.3	-	2	667	c.542C>T	c.(541-543)gCt>gTt	p.A181V	S1PR5_ENST00000333430.4_Missense_Mutation_p.A181V	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	181					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)	p.A181V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	AGTGGAGCAAGCGTCCAGGCG	0.697																																						uc002mot.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(541-543)GCT>GTT		endothelial differentiation, sphingolipid							25.0	22.0	23.0					19																	10625146		2197	4299	6496	SO:0001583	missense	53637					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10625146G>A	AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	14299	protein-coding gene	gene with protein product		605146	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"""	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.542C>T	19.37:g.10625146G>A	ENSP00000416915:p.Ala181Val					S1PR5_uc002mou.1_Missense_Mutation_p.A181V	p.A181V	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN			2	599	-			181			Extracellular (By similarity).		Q6NW11	Missense_Mutation	SNP	ENST00000439028.3	37	c.542C>T	CCDS12240.1	.	.	.	.	.	.	.	.	.	.	g	14.27	2.484503	0.44147	.	.	ENSG00000180739	ENST00000439028;ENST00000333430;ENST00000359134	T;T	0.35973	1.28;1.28	4.12	3.01	0.34805	GPCR, rhodopsin-like superfamily (1);	0.826799	0.10568	U	0.659460	T	0.26955	0.0660	N	0.24115	0.695	0.09310	N	1	B	0.20164	0.042	B	0.22880	0.042	T	0.17531	-1.0366	10	0.62326	D	0.03	.	10.9104	0.47106	0.0:0.0:0.7566:0.2434	.	181	Q9H228	S1PR5_HUMAN	V	181	ENSP00000416915:A181V;ENSP00000328472:A181V	ENSP00000328472:A181V	A	-	2	0	S1PR5	10486146	0.000000	0.05858	0.845000	0.33349	0.704000	0.40688	0.330000	0.19715	2.136000	0.66102	0.306000	0.20318	GCT		PASS	0.697	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1	NM_030760		3	19	3	19	---	---	---	---
RASAL3	64926	broad.mit.edu	37	19	15567015	15567015	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:15567015C>A	ENST00000343625.7	-	11	1706	c.1621G>T	c.(1621-1623)Gtg>Ttg	p.V541L	RASAL3_ENST00000608577.1_5'Flank	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	541	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)	p.V541L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CTGGGGTCCACTTCACAGTCC	0.587																																						uc002nbe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1621-1623)GTG>TTG		RAS protein activator like 3							59.0	63.0	62.0					19																	15567015		2032	4175	6207	SO:0001583	missense	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15567015C>A		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.1621G>T	19.37:g.15567015C>A	ENSP00000341905:p.Val541Leu					RASAL3_uc002nbd.2_5'Flank|RASAL3_uc010eaa.1_Missense_Mutation_p.V29L	p.V541L	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN			11	1707	-			541			Ras-GAP.		Q8N2T9|Q9H735	Missense_Mutation	SNP	ENST00000343625.7	37	c.1621G>T	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	c	26.0	4.699632	0.88830	.	.	ENSG00000105122	ENST00000343625	T	0.78246	-1.16	4.98	4.98	0.66077	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.30949	U	0.008559	D	0.82632	0.5079	L	0.35593	1.075	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.84763	0.0763	10	0.87932	D	0	.	16.1294	0.81414	0.0:1.0:0.0:0.0	.	541;541	Q86YV0-2;Q86YV0	.;RASL3_HUMAN	L	541	ENSP00000341905:V541L	ENSP00000341905:V541L	V	-	1	0	RASAL3	15428015	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.794000	0.85869	2.489000	0.83994	0.457000	0.33378	GTG		PASS	0.587	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904		9	49	9	49	---	---	---	---
CYP4F3	4051	broad.mit.edu	37	19	15760759	15760759	+	Silent	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:15760759C>A	ENST00000221307.8	+	7	731	c.684C>A	c.(682-684)ctC>ctA	p.L228L	CYP4F3_ENST00000586182.2_Silent_p.L228L|CYP4F3_ENST00000585846.1_Silent_p.L228L|CYP4F3_ENST00000591058.1_Silent_p.L228L	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	228					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)	p.L228L(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TCTTGGAGCTCAGTGCCCTTG	0.532																																						uc002nbj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(682-684)CTC>CTA		cytochrome P450, family 4, subfamily F,							149.0	140.0	143.0					19																	15760759		2203	4300	6503	SO:0001819	synonymous_variant	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15760759C>A	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.684C>A	19.37:g.15760759C>A						CYP4F3_uc010xok.1_Silent_p.L228L|CYP4F3_uc010xol.1_Silent_p.L228L|CYP4F3_uc010xom.1_Silent_p.L79L|CYP4F3_uc002nbk.2_Silent_p.L228L|CYP4F3_uc010xon.1_5'Flank	p.L228L	NM_000896	NP_000887	Q08477	CP4F3_HUMAN			7	734	+			228					B7Z8Z3|O60634|Q5U740	Silent	SNP	ENST00000221307.8	37	c.684C>A	CCDS12332.1																																																																																				PASS	0.532	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		29	252	29	252	---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16884028	16884028	+	Silent	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:16884028C>A	ENST00000552788.1	+	9	2502	c.2502C>A	c.(2500-2502)gcC>gcA	p.A834A	NWD1_ENST00000524140.2_Silent_p.A834A|NWD1_ENST00000379808.3_Silent_p.A834A|NWD1_ENST00000549814.1_Silent_p.A834A|NWD1_ENST00000523826.1_Silent_p.A628A|NWD1_ENST00000339803.6_Silent_p.A699A			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	834							ATP binding (GO:0005524)	p.A699A(1)|p.A834A(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCAACAGGCCCAGAGCTGGT	0.622																																						uc002neu.3																			2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(2)|pancreas(2)	7						c.(2500-2502)GCC>GCA		RecName: Full=NACHT and WD repeat domain-containing protein 1;							68.0	64.0	66.0					19																	16884028		2203	4300	6503	SO:0001819	synonymous_variant	284434						ATP binding	g.chr19:16884028C>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2502C>A	19.37:g.16884028C>A						NWD1_uc002net.3_Silent_p.A699A|NWD1_uc002nev.3_Silent_p.A628A	p.A834A			Q149M9	NWD1_HUMAN			11	2924	+			834					C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37	c.2502C>A																																																																																					PASS	0.622	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		10	70	10	70	---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17738671	17738671	+	Splice_Site	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:17738671C>A	ENST00000519716.2	-	32	3831		c.e32+1		UNC13A_ENST00000552293.1_Splice_Site|UNC13A_ENST00000428389.2_Splice_Site|UNC13A_ENST00000252773.7_Splice_Site|UNC13A_ENST00000550896.1_Splice_Site|UNC13A_ENST00000551649.1_Splice_Site	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)						beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.?(2)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CCCTGCCTCACCTCCTTTCCT	0.597																																						uc002nhd.2																			2	Unknown(2)		lung(2)	ovary(3)	3						c.e32+1		unc-13 homolog A							383.0	354.0	363.0					19																	17738671		2024	4189	6213	SO:0001630	splice_region_variant	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17738671C>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.3831+1G>T	19.37:g.17738671C>A							p.E1365_splice	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			32	4095	-								E5RHY9	Splice_Site	SNP	ENST00000519716.2	37	c.4095_splice	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736408	0.49045	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	.	.	.	3.68	3.68	0.42216	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9552	0.58424	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UNC13A	17599671	1.000000	0.71417	0.982000	0.44146	0.509000	0.34042	7.636000	0.83301	1.612000	0.50221	0.299000	0.19835	.		PASS	0.597	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604	Intron	111	770	111	770	---	---	---	---
FCHO1	23149	broad.mit.edu	37	19	17881694	17881694	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:17881694G>T	ENST00000596536.1	+	9	866	c.583G>T	c.(583-585)Gac>Tac	p.D195Y	FCHO1_ENST00000596951.1_Missense_Mutation_p.D195Y|FCHO1_ENST00000252771.7_Missense_Mutation_p.D195Y|FCHO1_ENST00000595033.1_Missense_Mutation_p.D145Y|FCHO1_ENST00000594202.1_Missense_Mutation_p.D195Y|FCHO1_ENST00000539407.1_Missense_Mutation_p.D195Y|FCHO1_ENST00000389133.4_Missense_Mutation_p.D195Y|FCHO1_ENST00000597512.1_Missense_Mutation_p.D202Y|FCHO1_ENST00000600676.1_Missense_Mutation_p.D195Y	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	195	Mediates membrane-binding.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)	p.D195Y(1)		NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GAAGATGCTGGACTCAGCCCT	0.537																																						uc010ebb.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(583-585)GAC>TAC		FCH domain only 1 isoform b							51.0	51.0	51.0					19																	17881694		2203	4300	6503	SO:0001583	missense	23149							g.chr19:17881694G>T	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.583G>T	19.37:g.17881694G>T	ENSP00000470731:p.Asp195Tyr					FCHO1_uc002nhg.3_Missense_Mutation_p.D195Y|FCHO1_uc002nhh.2_Missense_Mutation_p.D195Y|FCHO1_uc010xpw.1_Missense_Mutation_p.D145Y|FCHO1_uc010ebc.1_Missense_Mutation_p.D202Y	p.D195Y	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN			8	772	+			195			Potential.		A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	37	c.583G>T	CCDS32955.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793214	0.70452	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.47528	0.84;0.84;0.84	4.17	4.17	0.49024	.	0.260835	0.36409	N	0.002604	T	0.54727	0.1876	L	0.39898	1.24	0.42308	D	0.992207	D;D;D	0.65815	0.966;0.991;0.995	P;P;P	0.62560	0.73;0.786;0.904	T	0.57877	-0.7735	10	0.62326	D	0.03	-16.9672	11.843	0.52366	0.0:0.0:1.0:0.0	.	145;195;195	B4E120;O14526;O14526-2	.;FCHO1_HUMAN;.	Y	195	ENSP00000252771:D195Y;ENSP00000373785:D195Y;ENSP00000437978:D195Y	ENSP00000252771:D195Y	D	+	1	0	FCHO1	17742694	1.000000	0.71417	0.996000	0.52242	0.773000	0.43773	6.379000	0.73154	2.167000	0.68274	0.491000	0.48974	GAC		PASS	0.537	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		11	45	11	45	---	---	---	---
PDE4C	5143	broad.mit.edu	37	19	18322679	18322679	+	Missense_Mutation	SNP	T	T	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:18322679T>A	ENST00000355502.3	-	18	2552	c.1681A>T	c.(1681-1683)Acg>Tcg	p.T561S	AC068499.10_ENST00000599416.2_RNA|PDE4C_ENST00000447275.3_Missense_Mutation_p.T455S|PDE4C_ENST00000598111.2_Missense_Mutation_p.T276S|PDE4C_ENST00000597297.1_Missense_Mutation_p.T331S|PDE4C_ENST00000539010.1_Missense_Mutation_p.T330S|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000594465.3_Missense_Mutation_p.T561S|PDE4C_ENST00000594617.3_Missense_Mutation_p.T561S|PDE4C_ENST00000262805.12_Missense_Mutation_p.T529S			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	561					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.T561S(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	ATGCGGTCCGTCCACTGGCGG	0.617																																						uc010xqc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1681-1683)ACG>TCG		phosphodiesterase 4C isoform PDE4C-2	Dyphylline(DB00651)						94.0	76.0	82.0					19																	18322679		2203	4300	6503	SO:0001583	missense	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18322679T>A		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1681A>T	19.37:g.18322679T>A	ENSP00000347689:p.Thr561Ser					PDE4C_uc002nik.3_Missense_Mutation_p.T561S|PDE4C_uc002nil.3_Missense_Mutation_p.T561S|PDE4C_uc002nif.3_Missense_Mutation_p.T330S|PDE4C_uc002nig.3_Missense_Mutation_p.T276S|PDE4C_uc002nih.3_Missense_Mutation_p.T331S|PDE4C_uc010ebk.2_Missense_Mutation_p.T455S|PDE4C_uc002nii.3_Missense_Mutation_p.T529S|PDE4C_uc010ebl.2_Missense_Mutation_p.T275S	p.T561S	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN			14	2161	-			561					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	c.1681A>T	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.431107	0.62844	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000545961;ENST00000336173;ENST00000539010;ENST00000543547	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	4.85	4.85	0.62838	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.82797	0.5115	N	0.13272	0.32	0.41875	D	0.990297	D;P;B;D	0.76494	0.999;0.75;0.271;0.999	D;P;B;D	0.91635	0.999;0.605;0.401;0.999	D	0.84849	0.0812	10	0.52906	T	0.07	.	12.3909	0.55358	0.0:0.0:0.0:1.0	.	561;529;367;276	Q08493;Q08493-3;O43850;O76104	PDE4C_HUMAN;.;.;.	S	640;561;549;529;455;367;275;330;670	ENSP00000347689:T561S;ENSP00000262805:T529S;ENSP00000402091:T455S;ENSP00000439470:T330S	ENSP00000262805:T529S	T	-	1	0	PDE4C	18183679	1.000000	0.71417	0.991000	0.47740	0.597000	0.36814	7.651000	0.83577	1.824000	0.53156	0.459000	0.35465	ACG		PASS	0.617	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			11	71	11	71	---	---	---	---
NCAN	1463	broad.mit.edu	37	19	19338799	19338799	+	Silent	SNP	G	G	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:19338799G>A	ENST00000252575.6	+	8	2469	c.2370G>A	c.(2368-2370)ctG>ctA	p.L790L	NCAN_ENST00000538881.1_Silent_p.L241L	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	790					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.L804L(2)|p.L790L(2)|p.D805Y(1)|p.D791Y(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GCAAAGGGCTGGATGCAAGTT	0.577																																						uc002nlz.2																			6	Substitution - coding silent(4)|Substitution - Missense(2)		lung(6)	ovary(4)	4						c.(2368-2370)CTG>CTA		chondroitin sulfate proteoglycan 3 precursor							49.0	55.0	53.0					19																	19338799		2203	4300	6503	SO:0001819	synonymous_variant	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19338799G>A	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2370G>A	19.37:g.19338799G>A						NCAN_uc010ecc.1_Silent_p.L354L	p.L790L	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	2469	+			790					Q9UPK6	Silent	SNP	ENST00000252575.6	37	c.2370G>A	CCDS12397.1																																																																																				PASS	0.577	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		10	76	10	76	---	---	---	---
ZNF253	56242	broad.mit.edu	37	19	20002979	20002979	+	Missense_Mutation	SNP	G	G	C			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:20002979G>C	ENST00000589717.1	+	4	1015	c.923G>C	c.(922-924)aGa>aCa	p.R308T	AC011477.1_ENST00000578823.1_RNA|ZNF253_ENST00000355650.4_Missense_Mutation_p.R232T|CTC-559E9.8_ENST00000585571.1_RNA	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	308				Missing (in Ref. 1; AAC26844). {ECO:0000305}.|Missing (in Ref. 2; BAC11185). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R308T(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATTCATACTAGAGGGAAACCC	0.393																																						uc002noj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(922-924)AGA>ACA		zinc finger protein 253							47.0	52.0	50.0					19																	20002979		2136	4268	6404	SO:0001583	missense	56242				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20002979G>C	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.923G>C	19.37:g.20002979G>C	ENSP00000468720:p.Arg308Thr					ZNF253_uc002nok.2_Missense_Mutation_p.R232T|ZNF253_uc002nol.2_RNA	p.R308T	NM_021047	NP_066385	O75346	ZN253_HUMAN			4	1015	+			308	Missing (in Ref. 1; AAC26844).|Missing (in Ref. 2; BAC11185).				A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Missense_Mutation	SNP	ENST00000589717.1	37	c.923G>C	CCDS42532.1	.	.	.	.	.	.	.	.	.	.	g	8.116	0.779886	0.16120	.	.	ENSG00000256771	ENST00000355650	.	.	.	0.876	-1.75	0.08031	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17408	0.0418	N	0.16478	0.41	0.23056	N	0.998362	B	0.26041	0.14	B	0.22753	0.041	T	0.23833	-1.0177	7	.	.	.	.	5.3243	0.15898	0.2536:0.0:0.7464:0.0	.	308	O75346	ZN253_HUMAN	T	308	.	.	R	+	2	0	ZNF253	19863979	0.039000	0.19947	0.040000	0.18447	0.040000	0.13550	1.233000	0.32648	-0.722000	0.04922	-0.708000	0.03648	AGA		PASS	0.393	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047		5	29	5	29	---	---	---	---
ZNF708	7562	broad.mit.edu	37	19	21476251	21476251	+	Missense_Mutation	SNP	C	C	A	rs149714173	byFrequency	TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:21476251C>A	ENST00000356929.3	-	4	1714	c.1517G>T	c.(1516-1518)tGt>tTt	p.C506F		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	442					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.C506F(1)		breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						ACATTCTTTACATTTGTAGGG	0.363																																						uc002npq.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(2)	6						c.(1516-1518)TGT>TTT		zinc finger protein 708							47.0	52.0	50.0					19																	21476251		2193	4291	6484	SO:0001583	missense	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21476251C>A	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.1517G>T	19.37:g.21476251C>A	ENSP00000349401:p.Cys506Phe					ZNF708_uc002npr.1_Missense_Mutation_p.C442F|ZNF708_uc010ecs.1_Missense_Mutation_p.C442F	p.C506F	NM_021269	NP_067092	P17019	ZN708_HUMAN			4	1715	-			506			C2H2-type 14.		Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	c.1517G>T	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	11.42	1.632129	0.29068	.	.	ENSG00000182141	ENST00000356929	D	0.85088	-1.94	1.05	1.05	0.20165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93644	0.7970	H	0.97186	3.955	0.40848	D	0.983729	D	0.76494	0.999	D	0.76071	0.987	D	0.92682	0.6159	9	0.72032	D	0.01	.	8.9689	0.35894	0.0:1.0:0.0:0.0	.	506	P17019	ZN708_HUMAN	F	506	ENSP00000349401:C506F	ENSP00000349401:C506F	C	-	2	0	ZNF708	21268091	0.994000	0.37717	0.451000	0.26982	0.410000	0.31052	5.355000	0.66046	0.482000	0.27582	0.485000	0.47835	TGT		PASS	0.363	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		10	56	10	56	---	---	---	---
PSENEN	55851	broad.mit.edu	37	19	36237348	36237348	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:36237348G>T	ENST00000587708.2	+	3	773	c.90G>T	c.(88-90)tgG>tgT	p.W30C	AC002398.9_ENST00000591613.2_Missense_Mutation_p.W30C|AC002398.11_ENST00000585365.1_RNA|LIN37_ENST00000301159.9_5'Flank|U2AF1L4_ENST00000292879.5_5'Flank|AC002398.11_ENST00000591091.1_RNA|AD000671.6_ENST00000589807.1_5'Flank|U2AF1L4_ENST00000412391.2_5'Flank|U2AF1L4_ENST00000588100.1_5'Flank|U2AF1L4_ENST00000378975.3_5'Flank|PSENEN_ENST00000591949.1_Missense_Mutation_p.W30C|PSENEN_ENST00000222266.2_Missense_Mutation_p.W30C			Q9NZ42	PEN2_HUMAN	presenilin enhancer gamma secretase subunit	30					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.W30C(1)		central_nervous_system(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTTTTCTCTGGTTGGTCAACA	0.483																																						uc002obi.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(88-90)TGG>TGT		presenilin enhancer 2							141.0	135.0	137.0					19																	36237348		2203	4300	6503	SO:0001583	missense	55851				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	aspartic-type endopeptidase activity|protein binding	g.chr19:36237348G>T	AF220053	CCDS12474.1	19q13.12	2014-09-17	2013-09-12			ENSG00000205155			30100	protein-coding gene	gene with protein product		607632	"""presenilin enhancer 2 homolog (C. elegans)"""			12110170, 12660785	Standard	NM_172341		Approved	PEN2	uc002obi.1	Q9NZ42		ENST00000587708.2:c.90G>T	19.37:g.36237348G>T	ENSP00000468411:p.Trp30Cys					TMEM149_uc010eej.2_5'Flank|U2AF1L4_uc002obh.1_5'Flank|U2AF1L4_uc002obe.2_5'Flank|U2AF1L4_uc002obf.2_5'Flank|U2AF1L4_uc002obg.2_5'Flank|PSENEN_uc002obj.1_Missense_Mutation_p.W30C|PSENEN_uc002obk.1_RNA|LIN37_uc002obm.2_5'Flank	p.W30C	NM_172341	NP_758844	Q9NZ42	PEN2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	294	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		30			Helical; (Potential).		B2R5L9	Missense_Mutation	SNP	ENST00000587708.2	37	c.90G>T	CCDS12474.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721103	0.89205	.	.	ENSG00000205155	ENST00000222266	D	0.87256	-2.23	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.94971	0.8373	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95624	0.8683	10	0.87932	D	0	-5.9095	17.8969	0.88891	0.0:0.0:1.0:0.0	.	30	Q9NZ42	PEN2_HUMAN	C	30	ENSP00000222266:W30C	ENSP00000222266:W30C	W	+	3	0	PSENEN	40929188	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.411000	0.90229	2.763000	0.94921	0.561000	0.74099	TGG		PASS	0.483	PSENEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459101.2	NM_172341		37	110	37	110	---	---	---	---
NOVA2	4858	broad.mit.edu	37	19	46476593	46476594	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:46476593_46476594GG>CT	ENST00000263257.5	-	1	210_211	c.16_17CC>AG	c.(16-18)CCg>AGg	p.P6R	NOVA2_ENST00000599462.1_5'Flank	NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	6					regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P6R(2)|p.P6T(1)		endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GCGGGAATCCGGGGCCTCGGGC	0.777																																						uc002pdv.2																			3	Substitution - Missense(3)		lung(3)		0						c.(16-18)CCG>CGG|c.(16-18)CCG>ACG		neuro-oncological ventral antigen 2																																				SO:0001583	missense	4858					nucleus	RNA binding	g.chr19:46476593G>C|g.chr19:46476594G>T	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.16_17delinsCT	19.37:g.46476593_46476594delinsCT	ENSP00000263257:p.Pro6Arg						p.P6R|p.P6T	NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)	1	65|64	-		all_neural(266;0.113)|Ovarian(192;0.127)	6					O43267|Q9UEA1	Missense_Mutation	SNP	ENST00000263257.5	37	c.17C>G|c.16C>A	CCDS12679.1																																																																																				PASS	0.777	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		6|5	8	5	8	---	---	---	---
C5AR1	728	broad.mit.edu	37	19	47823172	47823172	+	Silent	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:47823172C>T	ENST00000355085.3	+	2	160	c.138C>T	c.(136-138)gtC>gtT	p.V46V		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	46					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)	p.V46V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-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;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		TCTTTGCAGTCGTCTTCCTGG	0.552																																						uc002pgj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(136-138)GTC>GTT		complement component 5 receptor 1							182.0	148.0	160.0					19																	47823172		2203	4300	6503	SO:0001819	synonymous_variant	728				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47823172C>T		CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"""CD molecules"", ""Complement system"", ""GPCR / Class A : Complement component receptors"""	1338	protein-coding gene	gene with protein product		113995	"""complement component 5 receptor 1 (C5a ligand)"""	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.138C>T	19.37:g.47823172C>T							p.V46V	NM_001736	NP_001727	P21730	C5AR_HUMAN		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)	2	187	+		all_cancers(25;2e-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)	46			Helical; Name=1; (Potential).			Silent	SNP	ENST00000355085.3	37	c.138C>T	CCDS33063.1																																																																																				PASS	0.552	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466925.1	NM_001736		9	106	9	106	---	---	---	---
TPRX1	284355	broad.mit.edu	37	19	48305217	48305217	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:48305217G>T	ENST00000322175.3	-	2	1206	c.1051C>A	c.(1051-1053)Cct>Act	p.P351T	TPRX1_ENST00000543508.1_Missense_Mutation_p.P341T|TPRX1_ENST00000535759.1_Missense_Mutation_p.P448T	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	351						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P351S(1)|p.P351T(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		GTGAAGTGAGGGAATAACTGG	0.592																																					Esophageal Squamous(123;175 2281 3051 32395)	uc002php.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1051-1053)CCT>ACT		tetra-peptide repeat homeobox							95.0	97.0	96.0					19																	48305217		2203	4300	6503	SO:0001583	missense	284355					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48305217G>T		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"""Homeoboxes / PRD class"""	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.1051C>A	19.37:g.48305217G>T	ENSP00000323455:p.Pro351Thr						p.P351T	NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)	2	1122	-		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	351					A5D8Y3|B2RPL5	Missense_Mutation	SNP	ENST00000322175.3	37	c.1051C>A	CCDS33066.1	.	.	.	.	.	.	.	.	.	.	g	11.99	1.803059	0.31869	.	.	ENSG00000178928	ENST00000322175;ENST00000535759;ENST00000543508	D;D	0.94280	-2.24;-3.39	1.11	1.11	0.20524	.	.	.	.	.	D	0.89904	0.6850	N	0.08118	0	0.09310	N	1	D	0.65815	0.995	D	0.65323	0.934	T	0.80560	-0.1328	9	0.87932	D	0	.	5.5783	0.17235	0.0:0.0:1.0:0.0	.	351	Q8N7U7	TPRX1_HUMAN	T	351;448;341	ENSP00000323455:P351T;ENSP00000438832:P448T	ENSP00000323455:P351T	P	-	1	0	TPRX1	52997029	0.006000	0.16342	0.002000	0.10522	0.007000	0.05969	1.375000	0.34295	0.923000	0.37045	0.313000	0.20887	CCT		PASS	0.592	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		48	86	48	86	---	---	---	---
KLK1	3816	broad.mit.edu	37	19	51326992	51326992	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:51326992C>A	ENST00000301420.2	-	1	48	c.13G>T	c.(13-15)Gtt>Ttt	p.V5F	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	5						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.V5F(1)		breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	AGGCACAGAACCAGGAACCAC	0.637																																						uc002ptk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(13-15)GTT>TTT		kallikrein 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						74.0	73.0	73.0					19																	51326992		2203	4300	6503	SO:0001583	missense	3816				proteolysis	nucleus	serine-type endopeptidase activity	g.chr19:51326992C>A	L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.13G>T	19.37:g.51326992C>A	ENSP00000301420:p.Val5Phe					KLK1_uc010ycg.1_RNA	p.V5F	NM_002257	NP_002248	P06870	KLK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	1	52	-		all_neural(266;0.0199)	5					Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Missense_Mutation	SNP	ENST00000301420.2	37	c.13G>T	CCDS12804.1	.	.	.	.	.	.	.	.	.	.	N	15.01	2.707718	0.48412	.	.	ENSG00000167748	ENST00000301420	D	0.89939	-2.59	2.82	-0.606	0.11619	.	.	.	.	.	T	0.81034	0.4739	L	0.41573	1.285	0.43283	D	0.995258	B	0.29552	0.248	B	0.31614	0.133	T	0.69573	-0.5109	9	0.45353	T	0.12	.	5.0511	0.14508	0.0:0.5229:0.0:0.4771	.	5	P06870	KLK1_HUMAN	F	5	ENSP00000301420:V5F	ENSP00000301420:V5F	V	-	1	0	KLK1	56018804	0.261000	0.24063	0.587000	0.28692	0.863000	0.49368	-0.323000	0.07997	-0.034000	0.13713	0.291000	0.19559	GTT		PASS	0.637	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257		4	68	4	68	---	---	---	---
SIGLEC5	8778	broad.mit.edu	37	19	52130831	52130831	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:52130831C>A	ENST00000534261.2	-	7	1565	c.1166G>T	c.(1165-1167)gGg>gTg	p.G389V	SIGLEC5_ENST00000222107.4_Missense_Mutation_p.G389V|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.G389V|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.G389V|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.G389V			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	389					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.G389V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GGCCCAGGGCCCAGCTGAGCT	0.662																																						uc002pxe.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|breast(1)|central_nervous_system(1)	4						c.(1165-1167)GGG>GTG		sialic acid binding Ig-like lectin 5 precursor							48.0	46.0	47.0					19																	52130831		2203	4300	6503	SO:0001583	missense	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52130831C>A	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1166G>T	19.37:g.52130831C>A	ENSP00000473238:p.Gly389Val						p.G389V	NM_003830	NP_003821	O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	6	1305	-		all_neural(266;0.0726)	389			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000534261.2	37	c.1166G>T	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098135	0.37048	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	D;D	0.86030	-2.06;-2.06	4.05	1.92	0.25849	.	.	.	.	.	D	0.89560	0.6750	M	0.76433	2.335	0.39154	D	0.962278	D	0.89917	1.0	D	0.87578	0.998	D	0.88357	0.2985	9	0.87932	D	0	.	5.6356	0.17534	0.0:0.7542:0.0:0.2458	.	389	O15389	SIGL5_HUMAN	V	389	ENSP00000222107:G389V;ENSP00000415200:G389V	ENSP00000222107:G389V	G	-	2	0	SIGLEC5	56822643	0.000000	0.05858	0.784000	0.31847	0.426000	0.31534	0.296000	0.19083	1.048000	0.40298	0.551000	0.68910	GGG		PASS	0.662	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		11	42	11	42	---	---	---	---
MIR516B2	574485	broad.mit.edu	37	19	54230232	54230232	+	RNA	SNP	G	G	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:54230232G>A	ENST00000385190.1	+	0	85				MIR526A2_ENST00000390198.1_RNA|MIR518E_ENST00000385252.1_RNA	NR_030207.1				microRNA 516b-2																		CATCCTTTCAGAGGGTTACTC	0.423																																						hsa-mir-526a-2|MI0003168																			0					0															200.0	170.0	179.0					19																	54230232		1568	3582	5150			574486							g.chr19:54230232G>A			19q13.42	2011-09-12	2007-10-23	2008-12-18	ENSG00000207925	ENSG00000207925		"""ncRNAs / Micro RNAs"""	32117	non-coding RNA	RNA, micro			"""microRNA 516-3"""	MIRN516-3, MIRN516B2			Standard	NR_030207		Approved	hsa-mir-516-3, hsa-mir-516b-2	uc021vak.1				19.37:g.54230232G>A						MIR518E_hsa-mir-518e|MI0003169_5'Flank										+									RNA	SNP	ENST00000385190.1	37	c.57G>A																																																																																					PASS	0.423	MIR516B2-201	KNOWN	basic	miRNA	miRNA		NR_030207		21	109	21	109	---	---	---	---
PTPRH	5794	broad.mit.edu	37	19	55699514	55699514	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:55699514C>T	ENST00000376350.3	-	13	2429	c.2407G>A	c.(2407-2409)Gaa>Aaa	p.E803K	PTPRH_ENST00000263434.5_Missense_Mutation_p.E625K	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	803					apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E803K(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GCGAAGTCTTCAGCTGGGATG	0.552																																						uc002qjq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(2407-2409)GAA>AAA		protein tyrosine phosphatase, receptor type, H							148.0	120.0	130.0					19																	55699514		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55699514C>T		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.2407G>A	19.37:g.55699514C>T	ENSP00000365528:p.Glu803Lys					PTPRH_uc010esv.2_Missense_Mutation_p.E625K|uc002qjr.2_5'Flank	p.E803K	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	13	2480	-		Renal(1328;0.245)	803			Cytoplasmic (Potential).		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.2407G>A	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	5.224	0.226881	0.09916	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.11385	2.78;2.78	4.15	-5.98	0.02220	.	.	.	.	.	T	0.05868	0.0153	L	0.28192	0.835	0.09310	N	1	B;B	0.23316	0.083;0.057	B;B	0.26517	0.07;0.041	T	0.45205	-0.9277	9	0.19147	T	0.46	.	5.8282	0.18566	0.0:0.3109:0.3836:0.3055	.	625;803	C9JCH2;Q9HD43	.;PTPRH_HUMAN	K	803;625	ENSP00000365528:E803K;ENSP00000263434:E625K	ENSP00000263434:E625K	E	-	1	0	PTPRH	60391326	0.003000	0.15002	0.013000	0.15412	0.036000	0.12997	0.039000	0.13884	-0.705000	0.05035	-0.367000	0.07326	GAA		PASS	0.552	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			20	180	20	180	---	---	---	---
ZNF835	90485	broad.mit.edu	37	19	57175239	57175239	+	Missense_Mutation	SNP	T	T	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:57175239T>A	ENST00000537055.2	-	2	1559	c.1328A>T	c.(1327-1329)gAg>gTg	p.E443V		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	443					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.E465V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GTAGGGCCGCTCGCCCGTGTG	0.667																																						uc010ygo.1																			1	Substitution - Missense(1)		lung(1)	pancreas(3)|skin(1)	4						c.(1393-1395)GAG>GTG		zinc finger protein 835							45.0	50.0	48.0					19																	57175239		2201	4297	6498	SO:0001583	missense	90485							g.chr19:57175239T>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1328A>T	19.37:g.57175239T>A	ENSP00000444747:p.Glu443Val					ZNF835_uc010ygn.1_Missense_Mutation_p.E443V	p.E465V	NM_001005850	NP_001005850					2	1394	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.1394A>T	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.370700	0.61624	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.26810	1.71	2.15	2.15	0.27550	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38983	0.1061	L	0.48935	1.535	0.29120	N	0.880285	D	0.60160	0.987	D	0.66497	0.944	T	0.16512	-1.0400	9	0.72032	D	0.01	.	9.5134	0.39091	0.0:0.0:0.0:1.0	.	465	Q9Y2P0	ZN835_HUMAN	V	465;443	ENSP00000444747:E443V	ENSP00000341756:E465V	E	-	2	0	ZNF835	61867051	0.488000	0.25996	0.596000	0.28811	0.689000	0.40095	2.093000	0.41710	1.225000	0.43566	0.459000	0.35465	GAG		PASS	0.667	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		6	78	6	78	---	---	---	---
ZSCAN1	284312	broad.mit.edu	37	19	58549470	58549470	+	Missense_Mutation	SNP	C	C	T	rs546837948		TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:58549470C>T	ENST00000282326.1	+	3	513	c.266C>T	c.(265-267)gCg>gTg	p.A89V	ZSCAN1_ENST00000601162.1_Missense_Mutation_p.A89V|ZSCAN1_ENST00000391700.1_Missense_Mutation_p.A89V	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	89	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.A89V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TTCCTGGGCGCGCTGCCCAGC	0.692																																						uc002qrc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(265-267)GCG>GTG		zinc finger and SCAN domain containing 1							17.0	17.0	17.0					19																	58549470		2197	4295	6492	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58549470C>T	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.266C>T	19.37:g.58549470C>T	ENSP00000282326:p.Ala89Val					ZSCAN1_uc002qra.1_Missense_Mutation_p.A89V|ZSCAN1_uc002qrb.1_Missense_Mutation_p.A89V	p.A89V	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	3	513	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	89			SCAN box.		Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.266C>T	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811549	0.70797	.	.	ENSG00000152467	ENST00000391700;ENST00000282326	T;T	0.03801	3.8;3.8	2.08	-0.206	0.13193	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.02342	0.0072	N	0.11201	0.11	0.09310	N	1	P;B	0.46142	0.873;0.433	P;B	0.44990	0.466;0.03	T	0.16630	-1.0396	9	0.02654	T	1	.	3.9312	0.09286	0.0:0.5704:0.0:0.4296	.	89;89	Q8NBB4;Q8NBB4-2	ZSCA1_HUMAN;.	V	89	ENSP00000375581:A89V;ENSP00000282326:A89V	ENSP00000282326:A89V	A	+	2	0	ZSCAN1	63241282	0.000000	0.05858	0.026000	0.17262	0.963000	0.63663	-0.194000	0.09559	0.204000	0.20548	0.393000	0.25936	GCG		PASS	0.692	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		6	17	6	17	---	---	---	---
ZSCAN1	284312	broad.mit.edu	37	19	58564993	58564993	+	Missense_Mutation	SNP	C	C	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr19:58564993C>G	ENST00000282326.1	+	6	1048	c.801C>G	c.(799-801)caC>caG	p.H267Q		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	267					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.H267Q(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCTCAAGCACACCAAAGGTG	0.622																																						uc002qrc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(799-801)CAC>CAG		zinc finger and SCAN domain containing 1							70.0	72.0	72.0					19																	58564993		2203	4300	6503	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58564993C>G	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.801C>G	19.37:g.58564993C>G	ENSP00000282326:p.His267Gln						p.H267Q	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	1048	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	267					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.801C>G	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	C	1.025	-0.683545	0.03353	.	.	ENSG00000152467	ENST00000282326	T	0.04275	3.66	1.14	0.0685	0.14370	.	.	.	.	.	T	0.02119	0.0066	N	0.08118	0	0.09310	N	1	B	0.18741	0.03	B	0.20767	0.031	T	0.49341	-0.8950	9	0.13853	T	0.58	.	3.4025	0.07328	0.0:0.7161:0.0:0.2839	.	267	Q8NBB4	ZSCA1_HUMAN	Q	267	ENSP00000282326:H267Q	ENSP00000282326:H267Q	H	+	3	2	ZSCAN1	63256805	0.000000	0.05858	0.013000	0.15412	0.028000	0.11728	0.255000	0.18333	0.059000	0.16252	-0.339000	0.08088	CAC		PASS	0.622	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		24	43	24	43	---	---	---	---
NINL	22981	broad.mit.edu	37	20	25443158	25443158	+	Missense_Mutation	SNP	T	T	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr20:25443158T>A	ENST00000278886.6	-	20	3516	c.3443A>T	c.(3442-3444)cAa>cTa	p.Q1148L	NINL_ENST00000422516.1_Missense_Mutation_p.Q799L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1148					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.Q1148L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTGGGATAATTGATCCTTGTA	0.388																																						uc002wux.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3442-3444)CAA>CTA		ninein-like							131.0	127.0	128.0					20																	25443158		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25443158T>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3443A>T	20.37:g.25443158T>A	ENSP00000278886:p.Gln1148Leu					NINL_uc010gdn.1_Missense_Mutation_p.Q799L	p.Q1148L	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			20	3517	-			1148			Potential.		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.3443A>T	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.870414	0.51588	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.31247	3.5;1.5	5.17	4.07	0.47477	.	0.221634	0.37261	N	0.002168	T	0.19406	0.0466	N	0.22421	0.69	0.21861	N	0.999509	B;P	0.49447	0.372;0.924	B;B	0.40134	0.098;0.32	T	0.06285	-1.0835	10	0.42905	T	0.14	-9.8359	9.8178	0.40862	0.0:0.0816:0.0:0.9184	.	799;1148	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	L	1148;799	ENSP00000278886:Q1148L;ENSP00000410431:Q799L	ENSP00000278886:Q1148L	Q	-	2	0	NINL	25391158	0.894000	0.30519	0.099000	0.21106	0.723000	0.41478	2.385000	0.44371	1.004000	0.39156	0.459000	0.35465	CAA		PASS	0.388	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		16	141	16	141	---	---	---	---
KIF3B	9371	broad.mit.edu	37	20	30898587	30898587	+	Missense_Mutation	SNP	G	G	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr20:30898587G>A	ENST00000375712.3	+	2	1174	c.1007G>A	c.(1006-1008)cGt>cAt	p.R336H	KIF3B_ENST00000418717.2_Missense_Mutation_p.R24H	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	336	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)	p.R336H(2)		NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TATGCCAACCGTGCCAAAAAC	0.532																																						uc002wxq.2																			2	Substitution - Missense(2)		prostate(1)|lung(1)	central_nervous_system(3)|ovary(2)	5						c.(1006-1008)CGT>CAT		kinesin family member 3B							76.0	62.0	67.0					20																	30898587		2203	4300	6503	SO:0001583	missense	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30898587G>A	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1007G>A	20.37:g.30898587G>A	ENSP00000364864:p.Arg336His					KIF3B_uc010ztv.1_Missense_Mutation_p.R336H|KIF3B_uc010ztw.1_Missense_Mutation_p.R336H	p.R336H	NM_004798	NP_004789	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	1174	+			336			Kinesin-motor.		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	c.1007G>A	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449843	0.84101	.	.	ENSG00000101350	ENST00000375712;ENST00000418717	T;T	0.78595	-1.19;-1.02	4.68	4.68	0.58851	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.93220	0.7840	H	0.98754	4.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.96111	0.9077	10	0.87932	D	0	.	17.7824	0.88528	0.0:0.0:1.0:0.0	.	24;336;336	B4DSR5;B4DYF2;O15066	.;.;KIF3B_HUMAN	H	336;24	ENSP00000364864:R336H;ENSP00000406287:R24H	ENSP00000364864:R336H	R	+	2	0	KIF3B	30362248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.433000	0.82419	0.462000	0.41574	CGT		PASS	0.532	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		10	77	10	77	---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40944572	40944572	+	Missense_Mutation	SNP	C	C	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr20:40944572C>G	ENST00000373187.1	-	12	1929	c.1930G>C	c.(1930-1932)Gag>Cag	p.E644Q	PTPRT_ENST00000373190.1_Missense_Mutation_p.E644Q|PTPRT_ENST00000373193.3_Missense_Mutation_p.E644Q|PTPRT_ENST00000373198.4_Missense_Mutation_p.E644Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.E644Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.E644Q|PTPRT_ENST00000356100.2_Missense_Mutation_p.E644Q			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	644	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.E644Q(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GAAAAGCACTCAATAATGTCA	0.522																																						uc002xkg.2																			1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(7)|lung(5)	20						c.(1930-1932)GAG>CAG		protein tyrosine phosphatase, receptor type, T							100.0	99.0	99.0					20																	40944572		2042	4172	6214	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40944572C>G	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1930G>C	20.37:g.40944572C>G	ENSP00000362283:p.Glu644Gln					PTPRT_uc010ggj.2_Missense_Mutation_p.E644Q	p.E644Q	NM_007050	NP_008981	O14522	PTPRT_HUMAN			12	2114	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	644			Extracellular (Potential).|Fibronectin type-III 4.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.1930G>C	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536172	0.45176	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.24;1.26;1.22;1.23	5.69	5.69	0.88448	.	0.102755	0.64402	D	0.000004	T	0.27169	0.0666	N	0.20986	0.625	0.44036	D	0.996768	B;B	0.20550	0.046;0.027	B;B	0.22753	0.041;0.018	T	0.04413	-1.0953	10	0.48119	T	0.1	.	13.0668	0.59038	0.0:0.9268:0.0:0.0732	.	644;644	O14522-1;O14522	.;PTPRT_HUMAN	Q	644	ENSP00000362286:E644Q;ENSP00000362283:E644Q;ENSP00000362289:E644Q;ENSP00000348408:E644Q;ENSP00000362294:E644Q;ENSP00000362280:E644Q;ENSP00000362297:E644Q	ENSP00000348408:E644Q	E	-	1	0	PTPRT	40377986	0.969000	0.33509	0.990000	0.47175	0.993000	0.82548	2.473000	0.45145	2.683000	0.91414	0.563000	0.77884	GAG		PASS	0.522	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			31	64	31	64	---	---	---	---
SPO11	23626	broad.mit.edu	37	20	55908750	55908750	+	Silent	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr20:55908750C>A	ENST00000371263.3	+	4	451	c.342C>A	c.(340-342)atC>atA	p.I114I	SPO11_ENST00000345868.4_Silent_p.I76I|SPO11_ENST00000371260.4_Silent_p.I76I	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	114					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)	p.I114I(1)		autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			CAGCTCTAATCCTTAAAATAT	0.259								Editing and processing nucleases																														uc002xye.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|skin(1)	3						c.(340-342)ATC>ATA	Editing_and_processing_nucleases	meiotic recombination protein SPO11 isoform a							52.0	56.0	55.0					20																	55908750		2196	4284	6480	SO:0001819	synonymous_variant	23626				female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity	g.chr20:55908750C>A	AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"""cancer/testis antigen 35"", ""spermatogenesis associated 43"""	605114	"""SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like"", ""SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)"", ""SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"""			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.342C>A	20.37:g.55908750C>A						SPO11_uc002xyf.2_Silent_p.I76I	p.I114I	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)		4	435	+	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		114					Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Silent	SNP	ENST00000371263.3	37	c.342C>A	CCDS13456.1																																																																																				PASS	0.259	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079836.2	NM_012444		6	44	6	44	---	---	---	---
PCK1	5105	broad.mit.edu	37	20	56140805	56140805	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr20:56140805C>A	ENST00000319441.4	+	10	1978	c.1814C>A	c.(1813-1815)cCc>cAc	p.P605H	PCK1_ENST00000543666.1_Missense_Mutation_p.P288H	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	605					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)	p.P605H(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GCCGACCTCCCCTGTGAAATC	0.458																																						uc002xyn.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1813-1815)CCC>CAC		cytosolic phosphoenolpyruvate carboxykinase 1							54.0	51.0	52.0					20																	56140805		2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56140805C>A		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.1814C>A	20.37:g.56140805C>A	ENSP00000319814:p.Pro605His					PCK1_uc010zzm.1_Missense_Mutation_p.P288H	p.P605H	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		10	1977	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		605					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.1814C>A	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352226	0.61183	.	.	ENSG00000124253	ENST00000540165;ENST00000319441;ENST00000543666	T;T	0.25749	1.78;1.78	5.64	5.64	0.86602	Phosphoenolpyruvate carboxykinase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70395	0.3219	H	0.98426	4.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82812	-0.0272	10	0.87932	D	0	-31.162	19.7154	0.96115	0.0:1.0:0.0:0.0	.	288;605	B4DT64;P35558	.;PCKGC_HUMAN	H	287;605;288	ENSP00000319814:P605H;ENSP00000445767:P288H	ENSP00000319814:P605H	P	+	2	0	PCK1	55574211	1.000000	0.71417	0.952000	0.39060	0.171000	0.22731	7.671000	0.83941	2.664000	0.90586	0.655000	0.94253	CCC		PASS	0.458	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			19	52	19	52	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57829620	57829620	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr20:57829620G>T	ENST00000371030.2	+	5	4856	c.4856G>T	c.(4855-4857)gGa>gTa	p.G1619V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1619							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.G1619V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CAGGTATCTGGATTAATCACT	0.488																																						uc002yan.2																			1	Substitution - Missense(1)		lung(1)	skin(13)|ovary(1)	14						c.(4855-4857)GGA>GTA		zinc finger protein 831							77.0	75.0	76.0					20																	57829620		1882	4116	5998	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57829620G>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4856G>T	20.37:g.57829620G>T	ENSP00000360069:p.Gly1619Val						p.G1619V	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			5	4856	+	all_lung(29;0.0085)		1619					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.4856G>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118375	0.37339	.	.	ENSG00000124203	ENST00000371030	T	0.09911	2.93	5.13	3.01	0.34805	.	0.546993	0.16730	N	0.201864	T	0.17238	0.0414	L	0.56769	1.78	0.09310	N	0.999994	P	0.47191	0.891	P	0.48141	0.568	T	0.04140	-1.0974	10	0.66056	D	0.02	-3.7183	10.8116	0.46551	0.1126:0.0:0.8874:0.0	.	1619	Q5JPB2	ZN831_HUMAN	V	1619	ENSP00000360069:G1619V	ENSP00000360069:G1619V	G	+	2	0	ZNF831	57263015	0.003000	0.15002	0.010000	0.14722	0.002000	0.02628	0.515000	0.22801	0.607000	0.29982	-1.314000	0.01303	GGA		PASS	0.488	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		7	101	7	101	---	---	---	---
SYCP2	10388	broad.mit.edu	37	20	58441392	58441392	+	Missense_Mutation	SNP	C	C	T	rs377589640		TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr20:58441392C>T	ENST00000357552.3	-	41	4501	c.4276G>A	c.(4276-4278)Gaa>Aaa	p.E1426K	SYCP2_ENST00000371001.2_Missense_Mutation_p.E1426K			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1426					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.E1426K(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GAATCTTTTTCAAAATTCTCC	0.234																																						uc002yaz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)	5						c.(4276-4278)GAA>AAA		synaptonemal complex protein 2							30.0	35.0	33.0					20																	58441392		2120	4219	6339	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58441392C>T	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.4276G>A	20.37:g.58441392C>T	ENSP00000350162:p.Glu1426Lys						p.E1426K	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		40	4415	-	all_lung(29;0.00344)		1426					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.4276G>A	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156436	0.78114	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000412613	T;T	0.32988	1.43;1.43	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000002	T	0.50480	0.1618	M	0.66939	2.045	0.42288	D	0.992126	D	0.67145	0.996	D	0.63877	0.919	T	0.43669	-0.9377	10	0.41790	T	0.15	-17.1811	14.3627	0.66785	0.0:0.8522:0.1478:0.0	.	1426	Q9BX26	SYCP2_HUMAN	K	1426;1426;112	ENSP00000360040:E1426K;ENSP00000350162:E1426K	ENSP00000350162:E1426K	E	-	1	0	SYCP2	57874787	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.360000	0.52299	2.735000	0.93741	0.557000	0.71058	GAA		PASS	0.234	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		15	89	15	89	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61513663	61513663	+	Silent	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr20:61513663C>T	ENST00000266070.4	-	16	3970	c.3645G>A	c.(3643-3645)cgG>cgA	p.R1215R	DIDO1_ENST00000395343.1_Silent_p.R1215R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1215					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R1215R(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAAGTCGGGTCCGCTTTTCGT	0.498																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)	6						c.(3643-3645)CGG>CGA		death inducer-obliterator 1 isoform c							104.0	110.0	108.0					20																	61513663		2203	4300	6503	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61513663C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3645G>A	20.37:g.61513663C>T						DIDO1_uc002yds.1_Silent_p.R1215R	p.R1215R	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	3909	-	Breast(26;5.68e-08)		1215					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.3645G>A	CCDS33506.1																																																																																				PASS	0.498	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		38	209	38	209	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61528077	61528077	+	Silent	SNP	C	C	A	rs374021508		TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr20:61528077C>A	ENST00000266070.4	-	7	2185	c.1860G>T	c.(1858-1860)gcG>gcT	p.A620A	DIDO1_ENST00000395340.1_Silent_p.A620A|DIDO1_ENST00000395343.1_Silent_p.A620A|DIDO1_ENST00000395335.2_Silent_p.A620A	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	620					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A620A(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CAGCCGTTGCCGCTGCAGGTG	0.642																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)	6						c.(1858-1860)GCG>GCT		death inducer-obliterator 1 isoform c							47.0	52.0	50.0					20																	61528077		2203	4300	6503	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61528077C>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1860G>T	20.37:g.61528077C>A						DIDO1_uc002yds.1_Silent_p.A620A|DIDO1_uc002ydt.1_Silent_p.A620A|DIDO1_uc002ydu.1_Silent_p.A620A	p.A620A	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			7	2124	-	Breast(26;5.68e-08)		620					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.1860G>T	CCDS33506.1																																																																																				PASS	0.642	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		95	73	95	73	---	---	---	---
GMEB2	26205	broad.mit.edu	37	20	62221642	62221642	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr20:62221642C>T	ENST00000266068.1	-	9	1871	c.1393G>A	c.(1393-1395)Ggt>Agt	p.G465S	GMEB2_ENST00000370069.1_Missense_Mutation_p.G414S|GMEB2_ENST00000370077.1_Missense_Mutation_p.G465S			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	465					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)	p.G465S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			ACCGTGCTACCGTCCTGCACG	0.682																																						uc002yfp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1393-1395)GGT>AGT		glucocorticoid modulatory element binding																																				SO:0001583	missense	26205				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding	g.chr20:62221642C>T	AF173867	CCDS13528.1	20q13.33	2008-07-02			ENSG00000101216	ENSG00000101216			4371	protein-coding gene	gene with protein product		607451				10523663, 11743720	Standard	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	Q9UKD1	OTTHUMG00000032988	ENST00000266068.1:c.1393G>A	20.37:g.62221642C>T	ENSP00000266068:p.Gly465Ser					GMEB2_uc002yfo.1_Missense_Mutation_p.G387S|GMEB2_uc002yfq.1_Missense_Mutation_p.G465S	p.G465S	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)		9	1872	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		465					E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Missense_Mutation	SNP	ENST00000266068.1	37	c.1393G>A	CCDS13528.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.540188	0.45176	.	.	ENSG00000101216	ENST00000370069;ENST00000370077;ENST00000266068	T;T;T	0.65916	-0.18;0.38;0.38	5.4	5.4	0.78164	.	0.119499	0.56097	D	0.000030	T	0.50939	0.1645	L	0.43152	1.355	0.46131	D	0.998881	B	0.28178	0.202	B	0.17722	0.019	T	0.47114	-0.9142	10	0.28530	T	0.3	-19.8899	12.1991	0.54315	0.0:0.9212:0.0:0.0788	.	465	Q9UKD1	GMEB2_HUMAN	S	414;465;465	ENSP00000359086:G414S;ENSP00000359094:G465S;ENSP00000266068:G465S	ENSP00000266068:G465S	G	-	1	0	GMEB2	61692086	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	5.139000	0.64801	2.532000	0.85374	0.655000	0.94253	GGT		PASS	0.682	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080166.1	NM_012384		9	81	9	81	---	---	---	---
RBM11	54033	broad.mit.edu	37	21	15599595	15599595	+	Missense_Mutation	SNP	A	A	G			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr21:15599595A>G	ENST00000400577.3	+	5	836	c.827A>G	c.(826-828)aAg>aGg	p.K276R	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	276					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)	p.K276R(1)		endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		CGAAAGTCTAAGAAGAAGAAA	0.333																																						uc002yjo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(826-828)AAG>AGG		RNA binding motif protein 11							83.0	84.0	84.0					21																	15599595		1884	4113	5997	SO:0001583	missense	54033						nucleotide binding|RNA binding	g.chr21:15599595A>G	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.827A>G	21.37:g.15599595A>G	ENSP00000383421:p.Lys276Arg					RBM11_uc002yjn.3_Missense_Mutation_p.K162R|RBM11_uc002yjp.3_Missense_Mutation_p.K162R	p.K276R	NM_144770	NP_658983	P57052	RBM11_HUMAN		Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)	5	869	+			276					Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	ENST00000400577.3	37	c.827A>G	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	A	16.29	3.080921	0.55753	.	.	ENSG00000185272	ENST00000400577	T	0.11063	2.81	4.71	4.71	0.59529	.	0.145914	0.46442	D	0.000294	T	0.15176	0.0366	L	0.39397	1.21	0.35187	D	0.77298	D	0.56968	0.978	P	0.52957	0.714	T	0.19321	-1.0309	10	0.15952	T	0.53	-21.8743	13.6927	0.62556	1.0:0.0:0.0:0.0	.	276	P57052	RBM11_HUMAN	R	276	ENSP00000383421:K276R	ENSP00000383421:K276R	K	+	2	0	RBM11	14521466	1.000000	0.71417	0.995000	0.50966	0.794000	0.44872	3.653000	0.54446	2.061000	0.61500	0.528000	0.53228	AAG		PASS	0.333	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		35	83	35	83	---	---	---	---
USP25	29761	broad.mit.edu	37	21	17198684	17198684	+	Splice_Site	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr21:17198684G>T	ENST00000285679.6	+	13	1835	c.1466G>T	c.(1465-1467)aGc>aTc	p.S489I	USP25_ENST00000285681.2_Splice_Site_p.S489I|USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Splice_Site_p.S489I	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	489	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.S489I(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		ACATTACCAAGGTAAAAAGTA	0.378																																						uc002yjy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|liver(2)	5						c.(1465-1467)AGC>ATC		ubiquitin specific peptidase 25							143.0	121.0	128.0					21																	17198684		2203	4300	6503	SO:0001630	splice_region_variant	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17198684G>T	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.1466+1G>T	21.37:g.17198684G>T						USP25_uc011aby.1_Missense_Mutation_p.S489I|USP25_uc002yjz.1_Missense_Mutation_p.S489I|USP25_uc010gla.1_Intron	p.S489I	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	13	1683	+			489					C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	c.1466G>T	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469839	0.63625	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	T;T;T	0.24723	1.84;1.85;1.84	5.71	5.71	0.89125	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.407293	0.31301	N	0.007894	T	0.38983	0.1061	L	0.38175	1.15	0.80722	D	1	B;B;P	0.48998	0.022;0.016;0.918	B;B;P	0.55455	0.022;0.059;0.776	T	0.02581	-1.1138	10	0.52906	T	0.07	.	20.2343	0.98354	0.0:0.0:1.0:0.0	.	489;489;489	Q9UHP3-3;Q9UHP3-1;Q9UHP3	.;.;UBP25_HUMAN	I	489	ENSP00000285681:S489I;ENSP00000285679:S489I;ENSP00000383044:S489I	ENSP00000285679:S489I	S	+	2	0	USP25	16120555	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	8.511000	0.90535	2.854000	0.98071	0.655000	0.94253	AGC		PASS	0.378	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1		Missense_Mutation	23	121	23	121	---	---	---	---
TIAM1	7074	broad.mit.edu	37	21	32638720	32638720	+	Missense_Mutation	SNP	T	T	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr21:32638720T>A	ENST00000286827.3	-	5	1040	c.569A>T	c.(568-570)cAa>cTa	p.Q190L	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.Q190L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	190					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q190L(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TAAATGTTCTTGGCTCAGATC	0.552																																						uc002yow.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(568-570)CAA>CTA		T-cell lymphoma invasion and metastasis 1							95.0	92.0	93.0					21																	32638720		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32638720T>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.569A>T	21.37:g.32638720T>A	ENSP00000286827:p.Gln190Leu					TIAM1_uc011adk.1_Missense_Mutation_p.Q190L|TIAM1_uc011adl.1_Missense_Mutation_p.Q190L|TIAM1_uc002yox.1_Intron	p.Q190L	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			5	1041	-			190					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.569A>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.604581	0.87157	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036;ENST00000455508	T;T	0.52983	0.73;0.64	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.64821	0.2633	L	0.55481	1.735	0.80722	D	1	D;D;D	0.76494	0.996;0.993;0.999	D;D;D	0.78314	0.99;0.977;0.991	T	0.67753	-0.5589	10	0.87932	D	0	.	15.769	0.78149	0.0:0.0:0.0:1.0	.	190;190;190	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	L	190;31;190;190	ENSP00000286827:Q190L;ENSP00000441570:Q190L	ENSP00000286827:Q190L	Q	-	2	0	TIAM1	31560591	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.215000	0.77966	2.118000	0.64928	0.482000	0.46254	CAA		PASS	0.552	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		23	113	23	113	---	---	---	---
KLHL22	84861	broad.mit.edu	37	22	20819555	20819555	+	Silent	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr22:20819555C>A	ENST00000328879.4	-	4	858	c.702G>T	c.(700-702)ctG>ctT	p.L234L	KLHL22_ENST00000440659.2_Silent_p.L91L	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	234					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)		p.L234L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GGGGCTCGTGCAGCGAGATCT	0.607																																						uc002zsl.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(700-702)CTG>CTT		kelch-like							36.0	34.0	35.0					22																	20819555		2203	4300	6503	SO:0001819	synonymous_variant	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20819555C>A		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.702G>T	22.37:g.20819555C>A						KLHL22_uc011ahr.1_Silent_p.L91L|KLHL22_uc002zsm.1_Silent_p.L234L	p.L234L	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		4	811	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	234					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Silent	SNP	ENST00000328879.4	37	c.702G>T	CCDS13780.1																																																																																				PASS	0.607	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		12	33	12	33	---	---	---	---
IGLC3	3539	broad.mit.edu	37	22	23247194	23247194	+	RNA	SNP	T	T	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr22:23247194T>A	ENST00000390325.2	+	0	0				IGLJ3_ENST00000390324.2_RNA			P0CG06	LAC3_HUMAN	immunoglobulin lambda constant 3 (Kern-Oz+ marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										GGGACCAAGCTGACCGTCCTA	0.547																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							221.0	193.0	202.0					22																	23247194		2014	4162	6176			96610							g.chr22:23247194T>A	J00254		22q11.2	2012-02-08			ENSG00000211679	ENSG00000211679		"""Immunoglobulins / IGL locus"""	5857	other	immunoglobulin gene				IGLC			Standard	NG_000002		Approved			P0CG06	OTTHUMG00000151217		22.37:g.23247194T>A						uc002zws.2_Intron								373		+								A0M8Q4|P80423	RNA	SNP	ENST00000390325.2	37	c.15997T>A																																																																																					PASS	0.547	IGLC3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000321821.3	NG_000002		13	127	13	127	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26317325	26317325	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr22:26317325G>T	ENST00000407587.2	+	34	5638	c.5469G>T	c.(5467-5469)gaG>gaT	p.E1823D	MYO18B_ENST00000335473.7_Missense_Mutation_p.E1822D|MYO18B_ENST00000536101.1_Missense_Mutation_p.E1822D			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1822	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E1823D(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCACCATGGAGGATGGCAAGA	0.572																																						uc003abz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(5464-5466)GAG>GAT		myosin XVIIIB							48.0	53.0	51.0					22																	26317325		2105	4232	6337	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26317325G>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.5469G>T	22.37:g.26317325G>T	ENSP00000386096:p.Glu1823Asp					MYO18B_uc003aca.1_Missense_Mutation_p.E1703D|MYO18B_uc010guy.1_Missense_Mutation_p.E1704D|MYO18B_uc010guz.1_Missense_Mutation_p.E1702D|MYO18B_uc011aka.1_Missense_Mutation_p.E976D|MYO18B_uc011akb.1_Missense_Mutation_p.E1335D	p.E1822D	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			34	5716	+			1822			Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.5466G>T		.	.	.	.	.	.	.	.	.	.	G	11.96	1.795289	0.31777	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87966	-2.32;-2.32;-2.32	5.23	0.572	0.17357	.	0.621428	0.15494	N	0.259367	T	0.78387	0.4275	L	0.38531	1.155	0.24681	N	0.993361	B;B;B;B	0.10296	0.003;0.0;0.0;0.0	B;B;B;B	0.13407	0.009;0.001;0.002;0.002	T	0.64158	-0.6473	10	0.33940	T	0.23	.	8.0207	0.30408	0.4708:0.0:0.5292:0.0	.	1335;1822;1823;1822	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	D	1822;1822;1823	ENSP00000441229:E1822D;ENSP00000334563:E1822D;ENSP00000386096:E1823D	ENSP00000334563:E1822D	E	+	3	2	MYO18B	24647325	0.634000	0.27190	0.986000	0.45419	0.599000	0.36880	0.127000	0.15790	0.181000	0.19994	-0.156000	0.13503	GAG		PASS	0.572	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		3	12	3	12	---	---	---	---
TEX33	339669	broad.mit.edu	37	22	37387317	37387317	+	Splice_Site	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr22:37387317C>A	ENST00000405091.2	-	7	997	c.746G>T	c.(745-747)gGg>gTg	p.G249V	TEX33_ENST00000381821.1_Splice_Site_p.G249V|TEX33_ENST00000402860.3_Splice_Site_p.G164V			O43247	TEX33_HUMAN	testis expressed 33	249								p.G164V(1)									GTGCCACCGCCCTACAGCGAG	0.498																																						uc003aqf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(745-747)GGG>GTG		hypothetical protein LOC339669 isoform 1							108.0	104.0	105.0					22																	37387317		2203	4300	6503	SO:0001630	splice_region_variant	339669							g.chr22:37387317C>A	BC042635	CCDS13937.1, CCDS54524.1	22q12.3	2013-10-11	2012-02-16	2012-02-16	ENSG00000185264	ENSG00000185264			28568	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 33"""	C22orf33		22332119	Standard	NM_178552		Approved	MGC35206, EAN57	uc003aqf.3	O43247	OTTHUMG00000150531	ENST00000405091.2:c.746-1G>T	22.37:g.37387317C>A						C22orf33_uc003aqe.2_Missense_Mutation_p.G164V	p.G249V	NM_001163857	NP_001157329	O43247	EAN57_HUMAN			6	892	-			249					B1AH46|Q6ICF2|Q8IVQ2|Q9Y4V8	Missense_Mutation	SNP	ENST00000405091.2	37	c.746G>T	CCDS54524.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696843	0.48202	.	.	ENSG00000185264	ENST00000402860;ENST00000405091;ENST00000381821	.	.	.	4.96	4.96	0.65561	.	0.000000	0.56097	D	0.000028	T	0.66107	0.2756	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68949	-0.5274	9	0.72032	D	0.01	.	14.0524	0.64745	0.0:1.0:0.0:0.0	.	249	O43247	EAN57_HUMAN	V	164;249;249	.	ENSP00000371243:G249V	G	-	2	0	C22orf33	35717263	0.995000	0.38212	0.865000	0.33974	0.244000	0.25665	4.114000	0.57858	2.450000	0.82876	0.563000	0.77884	GGG		PASS	0.498	TEX33-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318778.2	NM_178552	Missense_Mutation	24	74	24	74	---	---	---	---
MEI1	150365	broad.mit.edu	37	22	42172159	42172159	+	Silent	SNP	G	G	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr22:42172159G>A	ENST00000401548.3	+	21	2638	c.2598G>A	c.(2596-2598)ctG>ctA	p.L866L	MEI1_ENST00000400107.1_Silent_p.L234L|MEI1_ENST00000540880.1_Silent_p.L184L|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1									p.L872L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGATTAGCCTGAGGACCTTCC	0.547																																						uc003baz.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(2596-2598)CTG>CTA		meiosis defective 1							88.0	85.0	86.0					22																	42172159		1975	4163	6138	SO:0001819	synonymous_variant	150365						binding	g.chr22:42172159G>A	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.2598G>A	22.37:g.42172159G>A						WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Silent_p.L252L|MEI1_uc003bbc.1_Silent_p.L234L|MEI1_uc010gym.1_Silent_p.L234L|MEI1_uc003bbd.1_Silent_p.L109L|MEI1_uc010gyn.1_RNA|MEI1_uc003bbe.1_RNA	p.L866L	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN			21	2623	+			866						Silent	SNP	ENST00000401548.3	37	c.2598G>A	CCDS46718.1																																																																																				PASS	0.547	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		9	52	9	52	---	---	---	---
FAM9A	171482	broad.mit.edu	37	X	8768140	8768140	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chrX:8768140G>T	ENST00000543214.1	-	2	208	c.73C>A	c.(73-75)Cag>Aag	p.Q25K	FAM9A_ENST00000381003.3_Missense_Mutation_p.Q25K	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	25						nucleus (GO:0005634)		p.Q25K(1)		endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				GTGGCCCCCTGGGCGGCCGTA	0.642																																						uc004csg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(73-75)CAG>AAG		family with sequence similarity 9, member A							94.0	75.0	81.0					X																	8768140		2199	4293	6492	SO:0001583	missense	171482					nucleolus		g.chrX:8768140G>T		CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"""testis expressed 39A"""	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.73C>A	X.37:g.8768140G>T	ENSP00000440163:p.Gln25Lys						p.Q25K	NM_174951	NP_777611	Q8IZU1	FAM9A_HUMAN			2	184	-		Hepatocellular(5;0.219)	25					B7ZLH5|Q2M2D1	Missense_Mutation	SNP	ENST00000543214.1	37	c.73C>A	CCDS14131.1	.	.	.	.	.	.	.	.	.	.	-	0.052	-1.246149	0.01481	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	.	.	.	.	.	.	.	.	T	0.19565	0.0470	N	0.24115	0.695	0.19945	N	0.999947	B	0.30584	0.286	B	0.17722	0.019	T	0.14144	-1.0483	6	0.56958	D	0.05	.	.	.	.	.	25	Q8IZU1	FAM9A_HUMAN	K	25	.	ENSP00000370391:Q25K	Q	-	1	0	FAM9A	8728140	0.270000	0.24152	0.130000	0.21974	0.131000	0.20780	1.032000	0.30178	0.139000	0.18822	0.141000	0.15989	CAG		PASS	0.642	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055697.1	NM_174951		11	13	11	13	---	---	---	---
DMD	1756	broad.mit.edu	37	X	32662322	32662322	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chrX:32662322C>T	ENST00000357033.4	-	11	1464	c.1258G>A	c.(1258-1260)Gta>Ata	p.V420I	MIR548F5_ENST00000408421.1_RNA|DMD_ENST00000288447.4_Missense_Mutation_p.V412I|DMD_ENST00000378677.2_Missense_Mutation_p.V416I	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	420					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.V416I(1)|p.V415I(1)|p.V420I(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGCTCTTGTACTTCAGTTTCT	0.388																																						uc004dda.1																			3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(1258-1260)GTA>ATA		dystrophin Dp427m isoform							184.0	154.0	164.0					X																	32662322		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32662322C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1258G>A	X.37:g.32662322C>T	ENSP00000354923:p.Val420Ile					DMD_uc004dcz.2_Missense_Mutation_p.V297I|DMD_uc004dcy.1_Missense_Mutation_p.V416I|DMD_uc004ddb.1_Missense_Mutation_p.V412I|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.V412I|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|MIR548F5_hsa-mir-548f-5|MI0006378_5'Flank	p.V420I	NM_004006	NP_003997	P11532	DMD_HUMAN			11	1502	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	420			Spectrin 1.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.1258G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	3.432	-0.115915	0.06881	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.39592	1.07;1.07;1.07	5.83	4.97	0.65823	.	0.236099	0.20797	U	0.085515	T	0.16214	0.0390	N	0.04297	-0.235	0.80722	D	1	B;B;B;B	0.17038	0.001;0.016;0.005;0.02	B;B;B;B	0.23150	0.007;0.024;0.044;0.04	T	0.22034	-1.0228	10	0.06099	T	0.92	.	4.933	0.13926	0.0:0.6881:0.0:0.3119	.	412;412;420;416	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	I	412;416;420;420;297;412	ENSP00000367948:V416I;ENSP00000354923:V420I;ENSP00000288447:V412I	ENSP00000288447:V412I	V	-	1	0	DMD	32572243	1.000000	0.71417	0.995000	0.50966	0.828000	0.46876	0.922000	0.28734	2.480000	0.83734	0.591000	0.81541	GTA		PASS	0.388	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		10	45	10	45	---	---	---	---
CCNB3	85417	broad.mit.edu	37	X	50055568	50055568	+	Missense_Mutation	SNP	G	G	T	rs149508623	byFrequency	TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chrX:50055568G>T	ENST00000376042.1	+	7	3657	c.3359G>T	c.(3358-3360)aGc>aTc	p.S1120I	CCNB3_ENST00000276014.7_Missense_Mutation_p.S1120I|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	1120					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.S1120I(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GATGAGGACAGCAGTGATCCA	0.388																																						uc004dox.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(3358-3360)AGC>ATC		cyclin B3 isoform 3							203.0	180.0	188.0					X																	50055568		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50055568G>T	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.3359G>T	X.37:g.50055568G>T	ENSP00000365210:p.Ser1120Ile					CCNB3_uc004doy.2_Missense_Mutation_p.S1120I|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Missense_Mutation_p.S12I	p.S1120I	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			7	3657	+	Ovarian(276;0.236)		1120					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.3359G>T	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	4.155	0.027145	0.08054	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.18657	2.2;2.2	4.89	2.16	0.27623	Cyclin-like (1);	2.558320	0.01094	N	0.005247	T	0.12561	0.0305	N	0.08118	0	0.09310	N	1	P;B	0.35383	0.498;0.317	B;B	0.37346	0.247;0.247	T	0.16394	-1.0404	9	.	.	.	.	3.9716	0.09455	0.6623:0.0:0.1829:0.1549	.	1120;1120	A8K8T9;Q8WWL7	.;CCNB3_HUMAN	I	1120	ENSP00000365210:S1120I;ENSP00000276014:S1120I	.	S	+	2	0	CCNB3	50072308	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.801000	0.27055	0.070000	0.16634	-0.759000	0.03464	AGC		PASS	0.388	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			22	72	22	72	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73066488	73066488	+	lincRNA	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chrX:73066488C>A	ENST00000429829.1	-	0	6100					NR_001564.2				X inactive specific transcript (non-protein coding)																		GTGGGCACTTCCTGCTGGAAG	0.468																																						uc004ebm.1																			0					0								Homo sapiens cDNA: FLJ21545 fis, clone COL06195.							93.0	82.0	85.0					X																	73066488		876	1991	2867			7503							g.chrX:73066488C>A	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73066488C>A								NR_001564						1		-									RNA	SNP	ENST00000429829.1	37	c.6101G>T																																																																																					PASS	0.468	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		12	34	12	34	---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	79932487	79932487	+	Missense_Mutation	SNP	C	C	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chrX:79932487C>T	ENST00000373275.4	-	41	5246	c.5030G>A	c.(5029-5031)gGa>gAa	p.G1677E	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1677	Gly-rich.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.G1677E(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ACCCCATCTTCCCCATCTGCC	0.522																																						uc004edt.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(5029-5031)GGA>GAA		bromodomain and WD repeat domain containing 3							257.0	215.0	229.0					X																	79932487		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79932487C>T		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.5030G>A	X.37:g.79932487C>T	ENSP00000362372:p.Gly1677Glu					BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.G1273E|BRWD3_uc004edp.2_Missense_Mutation_p.G1506E|BRWD3_uc004edq.2_Missense_Mutation_p.G1273E|BRWD3_uc010nmj.1_Missense_Mutation_p.G1273E|BRWD3_uc004edr.2_Missense_Mutation_p.G1347E|BRWD3_uc004eds.2_Missense_Mutation_p.G1273E|BRWD3_uc004edu.2_Missense_Mutation_p.G1347E|BRWD3_uc004edv.2_Missense_Mutation_p.G1273E|BRWD3_uc004edw.2_Missense_Mutation_p.G1273E|BRWD3_uc004edx.2_Missense_Mutation_p.G1273E|BRWD3_uc004edy.2_Missense_Mutation_p.G1273E|BRWD3_uc004edz.2_Missense_Mutation_p.G1347E|BRWD3_uc004eea.2_Missense_Mutation_p.G1347E|BRWD3_uc004eeb.2_Missense_Mutation_p.G1273E|uc004edn.1_5'Flank	p.G1677E	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			41	5293	-			1677			Gly-rich.		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.5030G>A	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854656	0.32791	.	.	ENSG00000165288	ENST00000373275	T	0.80824	-1.42	4.44	4.44	0.53790	.	0.566559	0.16318	N	0.219717	T	0.60818	0.2298	N	0.08118	0	0.39096	D	0.961184	B	0.33694	0.421	B	0.29862	0.108	T	0.61520	-0.7046	9	.	.	.	-7.2133	11.9318	0.52851	0.0:0.8286:0.1714:0.0	.	1677	Q6RI45	BRWD3_HUMAN	E	1677	ENSP00000362372:G1677E	.	G	-	2	0	BRWD3	79819143	1.000000	0.71417	0.990000	0.47175	0.984000	0.73092	4.571000	0.60879	2.044000	0.60594	0.513000	0.50165	GGA		PASS	0.522	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		9	86	9	86	---	---	---	---
CPXCR1	53336	broad.mit.edu	37	X	88009035	88009035	+	Missense_Mutation	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chrX:88009035C>A	ENST00000276127.4	+	3	879	c.620C>A	c.(619-621)cCc>cAc	p.P207H	CPXCR1_ENST00000373111.1_Missense_Mutation_p.P207H	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	207							metal ion binding (GO:0046872)	p.P207H(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TACTACCGTCCCCTCACTGAG	0.423																																						uc004efd.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(619-621)CCC>CAC		CPX chromosome region, candidate 1							77.0	61.0	67.0					X																	88009035		2203	4300	6503	SO:0001583	missense	53336					intracellular	zinc ion binding	g.chrX:88009035C>A	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.620C>A	X.37:g.88009035C>A	ENSP00000276127:p.Pro207His					CPXCR1_uc004efc.3_Missense_Mutation_p.P207H	p.P207H	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN			3	879	+			207					B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	c.620C>A	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280984	0.40394	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.44482	0.92;0.92	2.85	1.96	0.26148	.	0.531777	0.14199	N	0.334846	T	0.44705	0.1306	L	0.27053	0.805	0.09310	N	1	D	0.89917	1.0	D	0.71414	0.973	T	0.19031	-1.0318	9	.	.	.	-1.3397	7.2005	0.25879	0.0:0.7306:0.2694:0.0	.	207	Q8N123	CPXCR_HUMAN	H	207	ENSP00000276127:P207H;ENSP00000362203:P207H	.	P	+	2	0	CPXCR1	87895691	0.004000	0.15560	0.002000	0.10522	0.269000	0.26545	1.654000	0.37334	0.602000	0.29896	0.594000	0.82650	CCC		PASS	0.423	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		8	27	8	27	---	---	---	---
PCDH19	57526	broad.mit.edu	37	X	99657567	99657567	+	Silent	SNP	C	C	A			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chrX:99657567C>A	ENST00000373034.4	-	3	4246	c.2571G>T	c.(2569-2571)ggG>ggT	p.G857G	PCDH19_ENST00000255531.7_Silent_p.G810G|PCDH19_ENST00000420881.2_Silent_p.G810G	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	857					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G311G(1)|p.G857G(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCTGCTGGGGCCCCTGGCTGT	0.557																																						uc010nmz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(2569-2571)GGG>GGT		protocadherin 19 isoform b							98.0	92.0	94.0					X																	99657567		2024	4173	6197	SO:0001819	synonymous_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99657567C>A	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.2571G>T	X.37:g.99657567C>A						PCDH19_uc004efw.3_Silent_p.G810G|PCDH19_uc004efx.3_Silent_p.G810G	p.G857G	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			3	4247	-			857			Cytoplasmic (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	c.2571G>T	CCDS55462.1																																																																																				PASS	0.557	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		8	13	8	13	---	---	---	---
SPRY3	10251	broad.mit.edu	37	X	155003874	155003874	+	Missense_Mutation	SNP	G	G	T			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chrX:155003874G>T	ENST00000302805.2	+	2	772	c.341G>T	c.(340-342)cGa>cTa	p.R114L		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	114					multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.R114Q(1)|p.R114L(1)				all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCCATCATCCGAACCCAACCT	0.547																																						uc004fnq.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(340-342)CGA>CTA		sprouty homolog 3							110.0	105.0	107.0					X																	155003874		2203	4296	6499	SO:0001583	missense	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155003874G>T	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.341G>T	X.37:g.155003874G>T	ENSP00000302978:p.Arg114Leu					SPRY3_uc010nvl.1_Intron	p.R114L	NM_005840	NP_005831	O43610	SPY3_HUMAN			2	795	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		114					A8K0H8	Missense_Mutation	SNP	ENST00000302805.2	37	c.341G>T	CCDS14769.4	.	.	.	.	.	.	.	.	.	.	G	11.01	1.514563	0.27123	.	.	ENSG00000168939	ENST00000302805	T	0.58210	0.35	3.14	3.14	0.36123	.	0.168000	0.39020	N	0.001489	T	0.42245	0.1194	.	.	.	0.09310	N	1	B	0.33198	0.401	B	0.32022	0.139	T	0.46830	-0.9163	9	0.72032	D	0.01	-0.4995	11.3539	0.49605	0.0:0.0:1.0:0.0	.	114	O43610	SPY3_HUMAN	L	114	ENSP00000302978:R114L	ENSP00000302978:R114L	R	+	2	0	SPRY3	154657068	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	4.847000	0.62867	1.593000	0.50029	0.279000	0.19357	CGA		PASS	0.547	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		12	64	12	64	---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215854167	215854167	+	Frame_Shift_Del	DEL	A	A	-			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr2:215854167delA	ENST00000272895.7	-	26	3934	c.3715delT	c.(3715-3717)tacfs	p.Y1239fs	ABCA12_ENST00000389661.4_Frame_Shift_Del_p.Y921fs	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1239					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGGGAGGTGTACATATTTTCC	0.408																																					Ovarian(66;664 1488 5121 34295)	uc002vew.2																			0				ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(3715-3717)TACfs		ATP-binding cassette, sub-family A, member 12							117.0	117.0	117.0					2																	215854167		2203	4300	6503	SO:0001589	frameshift_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215854167delA	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3715delT	2.37:g.215854167delA	ENSP00000272895:p.Tyr1239fs					ABCA12_uc002vev.2_Frame_Shift_Del_p.Y921fs|ABCA12_uc010zjn.1_Frame_Shift_Del_p.Y166fs	p.Y1239fs	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	26	3935	-		Renal(323;0.127)	1239					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Frame_Shift_Del	DEL	ENST00000272895.7	37	c.3715delT	CCDS33372.1																																																																																					0.408	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		114	52	114	52	---	---	---	---
PACS1	55690	broad.mit.edu	37	11	65838059	65838061	+	In_Frame_Del	DEL	GCA	GCA	-	rs75352646|rs369233658	byFrequency	TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chr11:65838059_65838061delGCA	ENST00000320580.4	+	1	135_137	c.102_104delGCA	c.(100-105)ccgcag>ccg	p.Q40del	RP11-1167A19.2_ENST00000529036.1_5'Flank	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	40	Gly-rich.|Poly-Gln.				protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						agccgccgccgcagcagcagcag	0.793																																						uc001oha.1																			0				ovary(6)	6						c.(100-105)CCGCAG>CCG		phosphofurin acidic cluster sorting protein 1				87,1885		23,41,922						1.8	0.0			3	226,4444		36,154,2145	no	coding	PACS1	NM_018026.2		59,195,3067	A1A1,A1R,RR		4.8394,4.4118,4.7124				313,6329				SO:0001651	inframe_deletion	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65838059_65838061delGCA	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.102_104delGCA	11.37:g.65838068_65838070delGCA	ENSP00000316454:p.Gln40del					PACS1_uc001ogz.1_In_Frame_Del_p.Q40del	p.Q40del	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN			1	236_238	+			40			Gly-rich.|Poly-Gln.		Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	In_Frame_Del	DEL	ENST00000320580.4	37	c.102_104delGCA	CCDS8129.1																																																																																					0.793	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		6	3	6	3	---	---	---	---
BTK	695	broad.mit.edu	37	X	100630267	100630267	+	Frame_Shift_Del	DEL	G	G	-	rs372818780		TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chrX:100630267delG	ENST00000308731.7	-	2	169	c.6delC	c.(4-6)gccfs	p.A3fs	BTK_ENST00000372880.1_Frame_Shift_Del_p.A3fs|BTK_ENST00000464567.1_5'UTR	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	3	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GAATCACTGCGGCCATAGCTT	0.468									Agammaglobulinemia, X-linked																													uc004ehg.2																			0				lung(3)|central_nervous_system(2)|ovary(1)	6						c.(4-6)GCCfs		Bruton agammaglobulinemia tyrosine kinase							130.0	119.0	123.0					X																	100630267		2203	4300	6503	SO:0001589	frameshift_variant	695	Agammaglobulinemia_X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100630267delG	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.6delC	X.37:g.100630267delG	ENSP00000308176:p.Ala3fs					BTK_uc010nnn.2_Frame_Shift_Del_p.A2fs|BTK_uc010nno.2_Frame_Shift_Del_p.A36fs|BTK_uc004ehi.2_Frame_Shift_Del_p.A2fs	p.A2fs	NM_000061	NP_000052	Q06187	BTK_HUMAN			2	199	-			2					B2RAW1|Q32ML5	Frame_Shift_Del	DEL	ENST00000308731.7	37	c.6delC	CCDS14482.1																																																																																					0.468	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		75	36	75	36	---	---	---	---
TCEAL5	340543	broad.mit.edu	37	X	102529354	102529354	+	Frame_Shift_Del	DEL	C	C	-			TCGA-70-6722-01A-11D-1817-08	TCGA-70-6722-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e81f1bb5-2d06-44b3-998a-e7a0b818467c	01aa61e4-b97b-41c8-b57f-10234623dc94	g.chrX:102529354delC	ENST00000372680.1	-	3	432	c.138delG	c.(136-138)gggfs	p.G46fs		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	46	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						attctgtcttcccctccatgt	0.502																																						uc004ejz.1																			0				lung(1)|breast(1)	2						c.(136-138)GGGfs		transcription elongation factor A (SII)-like 5							198.0	132.0	154.0					X																	102529354		2203	4300	6503	SO:0001589	frameshift_variant	340543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chrX:102529354delC		CCDS35356.1	Xq22.2	2014-03-21			ENSG00000204065	ENSG00000204065			22282	protein-coding gene	gene with protein product						16221301	Standard	NM_001012979		Approved	WEX4	uc004ejz.2	Q5H9L2	OTTHUMG00000022092	ENST00000372680.1:c.138delG	X.37:g.102529354delC	ENSP00000361765:p.Gly46fs						p.G46fs	NM_001012979	NP_001012997	Q5H9L2	TCAL5_HUMAN			3	433	-			46			Glu-rich.		A2RUJ4	Frame_Shift_Del	DEL	ENST00000372680.1	37	c.138delG	CCDS35356.1																																																																																					0.502	TCEAL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057696.1	XM_291334		17	12	17	12	---	---	---	---
