#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ACSM2B	348158	genome.wustl.edu	37	16	20548639	20548639	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr16:20548639G>A	ENST00000329697.6	-	14	1843	c.1675C>T	c.(1675-1677)Caa>Taa	p.Q559*	ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.Q559*|ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.Q480*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.Q559*	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	559					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTGGTTCGTTGAATTTTCCCT	0.478																																																	0													252.0	232.0	238.0					16																	20548639		2202	4300	6502	SO:0001587	stop_gained	348158			AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1675C>T	16.37:g.20548639G>A	ENSP00000327453:p.Gln559*		Q86YT1	Nonsense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.Q559*	ENST00000329697.6	37	c.1675	CCDS10586.1	16	.	.	.	.	.	.	.	.	.	.	G	0.188	-1.055779	0.01965	.	.	ENSG00000066813	ENST00000329697	.	.	.	3.09	-4.05	0.03998	.	1.015480	0.07922	N	0.976046	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-0.1171	3.092	0.06297	0.1722:0.3694:0.3399:0.1184	.	.	.	.	X	559	.	ENSP00000327453:Q559X	Q	-	1	0	ACSM2B	20456140	0.000000	0.05858	0.001000	0.08648	0.085000	0.17905	-1.090000	0.03372	-1.025000	0.03334	-0.225000	0.12378	CAA	ACSM2B	-	NULL		0.478	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2B	HGNC	protein_coding	OTTHUMT00000254417.2	G	NM_182617		20548639	-1	no_errors	ENST00000329697	ensembl	human	known	70_37	nonsense	SNP	0.000	A
ADAM8	101	genome.wustl.edu	37	10	135082987	135082987	+	Missense_Mutation	SNP	G	G	A	rs375767499		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr10:135082987G>A	ENST00000445355.3	-	18	1960	c.1910C>T	c.(1909-1911)cCg>cTg	p.P637L	ADAM8_ENST00000415217.3_Missense_Mutation_p.P637L|ADAM8_ENST00000485491.2_Missense_Mutation_p.P572L	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	637	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		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)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		GCAGTGGGGCGGGGCCCAGCC	0.706																																																	0								G	LEU/PRO,LEU/PRO,LEU/PRO	1,4367		0,1,2183	19.0	20.0	20.0		1910,1910,1715	3.8	0.9	10		20	0,8572		0,0,4286	no	missense,missense,missense	ADAM8	NM_001109.4,NM_001164489.1,NM_001164490.1	98,98,98	0,1,6469	AA,AG,GG		0.0,0.0229,0.0077	probably-damaging,probably-damaging,probably-damaging	637/825,637/743,572/734	135082987	1,12939	2184	4286	6470	SO:0001583	missense	101			D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	215	protein-coding gene	gene with protein product		602267	"""a disintegrin and metalloproteinase domain 8"""			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.1910C>T	10.37:g.135082987G>A	ENSP00000453302:p.Pro637Leu		B4DVM6|H0YL36|H0YLR0|H0YN39	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,pfam_ADAM_Cys-rich,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.P637L	ENST00000445355.3	37	c.1910	CCDS31319.2	10																																																																																			ADAM8	-	pfscan_EG-like_dom		0.706	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM8	HGNC	protein_coding	OTTHUMT00000051118.4	G	NM_001109		135082987	-1	no_errors	ENST00000445355	ensembl	human	known	70_37	missense	SNP	0.999	A
ADAMTS16	170690	genome.wustl.edu	37	5	5239840	5239840	+	Silent	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr5:5239840C>T	ENST00000274181.7	+	16	2463	c.2325C>T	c.(2323-2325)cgC>cgT	p.R775R		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	775	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGAGTATCCGCATCTATGAAA	0.502																																																	0													155.0	145.0	148.0					5																	5239840		1888	4112	6000	SO:0001819	synonymous_variant	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2325C>T	5.37:g.5239840C>T			C6G490|Q8IVE2	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R775	ENST00000274181.7	37	c.2325	CCDS43299.1	5																																																																																			ADAMTS16	-	pfam_ADAM_spacer1		0.502	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	C	NM_139056		5239840	+1	no_errors	ENST00000274181	ensembl	human	known	70_37	silent	SNP	0.060	T
ADCY9	115	genome.wustl.edu	37	16	4043460	4043460	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr16:4043460C>T	ENST00000294016.3	-	4	2474	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	646					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCTCCTCCCTCGGCGCCGGCT	0.547																																																	0													165.0	150.0	156.0					16																	4043460		2197	4300	6497	SO:0001583	missense	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1936G>A	16.37:g.4043460C>T	ENSP00000294016:p.Glu646Lys		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.E646K	ENST00000294016.3	37	c.1936	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	C	19.65	3.866804	0.72065	.	.	ENSG00000162104	ENST00000294016	D	0.83673	-1.75	5.36	5.36	0.76844	.	0.210265	0.41938	D	0.000781	T	0.72431	0.3459	L	0.40543	1.245	0.45979	D	0.998796	P	0.49358	0.923	B	0.32583	0.148	T	0.72849	-0.4168	10	0.17832	T	0.49	.	17.2861	0.87142	0.0:1.0:0.0:0.0	.	646	O60503	ADCY9_HUMAN	K	646	ENSP00000294016:E646K	ENSP00000294016:E646K	E	-	1	0	ADCY9	3983461	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	4.638000	0.61353	2.514000	0.84764	0.544000	0.68410	GAG	ADCY9	-	NULL		0.547	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	C			4043460	-1	no_errors	ENST00000294016	ensembl	human	known	70_37	missense	SNP	1.000	T
ADH4	127	genome.wustl.edu	37	4	100048484	100048484	+	Silent	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr4:100048484C>T	ENST00000265512.7	-	7	929	c.855G>A	c.(853-855)ctG>ctA	p.L285L	ADH4_ENST00000508393.1_Silent_p.L304L|ADH4_ENST00000423445.1_Silent_p.L304L|ADH4_ENST00000505590.1_Silent_p.L304L|RP11-696N14.1_ENST00000500358.2_RNA	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	285					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		TTGTACAGTCCAGGGCTGCTT	0.423																																																	0													68.0	67.0	68.0					4																	100048484		2203	4300	6503	SO:0001819	synonymous_variant	127			M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"""Alcohol dehydrogenases"""	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.855G>A	4.37:g.100048484C>T			A8K470|B4DIE7|C9J4A9|Q8TCD7	Silent	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.L304	ENST00000265512.7	37	c.912	CCDS34032.1	4																																																																																			ADH4	-	pfam_ADH_C,smart_PKS_ER		0.423	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADH4	HGNC	protein_coding	OTTHUMT00000364220.2	C	NM_000670		100048484	-1	no_errors	ENST00000423445	ensembl	human	known	70_37	silent	SNP	0.930	T
ADRBK1	156	genome.wustl.edu	37	11	67052440	67052440	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr11:67052440G>A	ENST00000308595.5	+	19	2067	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	593	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GTGGCGGGGCGAGGGCGAGGC	0.697																																																	0													33.0	29.0	30.0					11																	67052440		2194	4281	6475	SO:0001583	missense	156			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1777G>A	11.37:g.67052440G>A	ENSP00000312262:p.Glu593Lys		B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.E593K	ENST00000308595.5	37	c.1777	CCDS8156.1	11	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697857	0.48307	.	.	ENSG00000173020	ENST00000308595	T	0.75821	-0.97	4.46	4.46	0.54185	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.46442	D	0.000292	T	0.67031	0.2850	L	0.44542	1.39	0.80722	D	1	P	0.34639	0.461	B	0.29353	0.101	T	0.71290	-0.4637	10	0.54805	T	0.06	-0.1698	17.2784	0.87122	0.0:0.0:1.0:0.0	.	593	P25098	ARBK1_HUMAN	K	593	ENSP00000312262:E593K	ENSP00000312262:E593K	E	+	1	0	ADRBK1	66809016	1.000000	0.71417	0.999000	0.59377	0.039000	0.13416	8.604000	0.90877	2.473000	0.83533	0.591000	0.81541	GAG	ADRBK1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.697	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK1	HGNC	protein_coding	OTTHUMT00000393153.1	G	NM_001619		67052440	+1	no_errors	ENST00000308595	ensembl	human	known	70_37	missense	SNP	1.000	A
ALS2CR12	130540	genome.wustl.edu	37	2	202211365	202211365	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr2:202211365C>G	ENST00000286190.5	-	4	314	c.268G>C	c.(268-270)Gtt>Ctt	p.V90L	ALS2CR12_ENST00000439709.1_Missense_Mutation_p.V90L|ALS2CR12_ENST00000405148.2_Missense_Mutation_p.V90L|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.V90L|ALS2CR12_ENST00000448967.1_5'UTR			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	90					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						CGATTCCGAACAAGTTGATAG	0.453																																																	0													149.0	126.0	134.0					2																	202211365		2203	4300	6503	SO:0001583	missense	130540			AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.268G>C	2.37:g.202211365C>G	ENSP00000286190:p.Val90Leu		G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	superfamily_t-SNARE	p.V90L	ENST00000286190.5	37	c.268	CCDS2346.1	2	.	.	.	.	.	.	.	.	.	.	C	5.847	0.340451	0.11069	.	.	ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709;ENST00000425488	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	4.74	-9.48	0.00591	.	2.088610	0.01852	N	0.036009	T	0.24661	0.0598	L	0.29908	0.895	0.09310	N	1	B;B	0.20780	0.048;0.048	B;B	0.18561	0.022;0.022	T	0.06698	-1.0812	10	0.25106	T	0.35	1.9717	5.3768	0.16170	0.3833:0.3862:0.0:0.2305	.	90;90	Q96Q35;G5E9S3	AL2SB_HUMAN;.	L	90;90;90;90;28	ENSP00000286190:V90L;ENSP00000385098:V90L;ENSP00000376086:V90L;ENSP00000412073:V90L	ENSP00000286190:V90L	V	-	1	0	ALS2CR12	201919610	0.000000	0.05858	0.000000	0.03702	0.627000	0.37826	-3.992000	0.00318	-2.353000	0.00615	-1.047000	0.02352	GTT	ALS2CR12	-	NULL		0.453	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	ALS2CR12	HGNC	protein_coding	OTTHUMT00000256286.1	C	NM_139163		202211365	-1	no_errors	ENST00000286190	ensembl	human	known	70_37	missense	SNP	0.000	G
ANKRD24	170961	genome.wustl.edu	37	19	4222693	4222693	+	Silent	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr19:4222693C>T	ENST00000600132.1	+	20	3474	c.3198C>T	c.(3196-3198)ttC>ttT	p.F1066F	ANKRD24_ENST00000262970.5_Silent_p.F1156F|ANKRD24_ENST00000318934.4_Silent_p.F1066F	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1066										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		AAGAAGTCTTCAATCTTAAGG	0.602																																																	0													30.0	31.0	31.0					19																	4222693		1928	4131	6059	SO:0001819	synonymous_variant	170961			AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.3198C>T	19.37:g.4222693C>T			O75268|O95781	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.F1066	ENST00000600132.1	37	c.3198	CCDS45925.1	19																																																																																			ANKRD24	-	NULL		0.602	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKRD24	HGNC	protein_coding	OTTHUMT00000458188.1	C	XM_114000		4222693	+1	no_errors	ENST00000318934	ensembl	human	known	70_37	silent	SNP	0.809	T
APCS	325	genome.wustl.edu	37	1	159558199	159558199	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr1:159558199G>A	ENST00000255040.2	+	2	470	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	125	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					AGGTATTGCTGAATTTTGGAT	0.468																																																	0													76.0	75.0	75.0					1																	159558199		2203	4300	6503	SO:0001583	missense	325				CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"""pentaxin-related"", ""9.5S alpha-1-glycoprotein"""	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.373G>A	1.37:g.159558199G>A	ENSP00000255040:p.Glu125Lys			Missense_Mutation	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.E125K	ENST00000255040.2	37	c.373	CCDS1186.1	1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165373	0.57476	.	.	ENSG00000132703	ENST00000255040	T	0.09255	3.0	4.25	-1.54	0.08584	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.254839	0.38837	N	0.001545	T	0.13114	0.0318	M	0.79475	2.455	0.09310	N	1	D	0.76494	0.999	D	0.76575	0.988	T	0.04041	-1.0982	10	0.72032	D	0.01	-6.4985	5.4735	0.16682	0.2824:0.4264:0.2912:0.0	.	125	P02743	SAMP_HUMAN	K	125	ENSP00000255040:E125K	ENSP00000255040:E125K	E	+	1	0	APCS	157824823	0.000000	0.05858	0.000000	0.03702	0.759000	0.43091	0.643000	0.24750	-0.395000	0.07715	0.655000	0.94253	GAA	APCS	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin		0.468	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APCS	HGNC	protein_coding	OTTHUMT00000059024.2	G	NM_001639		159558199	+1	no_errors	ENST00000255040	ensembl	human	known	70_37	missense	SNP	0.004	A
ARPP21	10777	genome.wustl.edu	37	3	35835544	35835544	+	3'UTR	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr3:35835544C>T	ENST00000187397.4	+	0	2989				ARPP21_ENST00000444190.1_3'UTR|ARPP21_ENST00000458225.1_3'UTR|ARPP21_ENST00000417925.1_3'UTR|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000337271.5_3'UTR	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa						cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CTTAAGTATTCACTCAACACT	0.393																																																	0																																										SO:0001624	3_prime_UTR_variant	10777			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.*94C>T	3.37:g.35835544C>T			B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	RNA	SNP	-	NULL	ENST00000187397.4	37	NULL	CCDS2661.1	3																																																																																			ARPP21	-	-		0.393	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	C	NM_198399		35835544	+1	no_errors	ENST00000476052	ensembl	human	known	70_37	rna	SNP	0.895	T
ARHGAP31	57514	genome.wustl.edu	37	3	119099772	119099772	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr3:119099772G>A	ENST00000264245.4	+	4	902	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	124	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GCATTGCCCTGAAGAAGGCCA	0.522																																					Pancreas(7;176 297 5394 51128 51241)												0													87.0	91.0	90.0					3																	119099772		2069	4216	6285	SO:0001583	missense	57514				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.370G>A	3.37:g.119099772G>A	ENSP00000264245:p.Glu124Lys		Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E124K	ENST00000264245.4	37	c.370	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228972	0.79688	.	.	ENSG00000031081	ENST00000264245;ENST00000543280;ENST00000482743	T;T	0.19250	2.16;2.16	5.38	4.51	0.55191	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000001	T	0.30448	0.0765	L	0.49256	1.55	0.58432	D	0.999996	P	0.37233	0.588	P	0.48189	0.57	T	0.06162	-1.0842	10	0.66056	D	0.02	.	11.5677	0.50815	0.081:0.0:0.919:0.0	.	124	Q2M1Z3	RHG31_HUMAN	K	124;124;95	ENSP00000264245:E124K;ENSP00000418429:E95K	ENSP00000264245:E124K	E	+	1	0	ARHGAP31	120582462	1.000000	0.71417	0.898000	0.35279	0.794000	0.44872	8.550000	0.90675	1.509000	0.48786	-0.136000	0.14681	GAA	ARHGAP31	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.522	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	G			119099772	+1	no_errors	ENST00000264245	ensembl	human	known	70_37	missense	SNP	0.996	A
ATM	472	genome.wustl.edu	37	11	108236094	108236094	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr11:108236094delA	ENST00000452508.2	+	64	9219	c.9030delA	c.(9028-9030)ttafs	p.L3010fs	C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Frame_Shift_Del_p.L3010fs			Q13315	ATM_HUMAN	ATM serine/threonine kinase	3010					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AACGTGTCTTAATGAGACTAC	0.423			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0													132.0	128.0	129.0					11																	108236094		2201	4298	6499	SO:0001589	frameshift_variant	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.9030delA	11.37:g.108236094delA	ENSP00000388058:p.Leu3010fs		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Frame_Shift_Del	DEL	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.M3011fs	ENST00000452508.2	37	c.9030	CCDS31669.1	11																																																																																			ATM	-	smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.423	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	A	NM_000051		108236094	+1	no_errors	ENST00000278616	ensembl	human	known	70_37	frame_shift_del	DEL	0.996	-
ATXN3L	92552	genome.wustl.edu	37	X	13337277	13337277	+	Silent	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chrX:13337277G>A	ENST00000380622.2	-	1	1241	c.777C>T	c.(775-777)tcC>tcT	p.S259S	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	259					protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ATGTGTTTCCGGAACTACCTT	0.428																																																	0													350.0	302.0	317.0					X																	13337277		1568	3582	5150	SO:0001819	synonymous_variant	92552				CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.777C>T	X.37:g.13337277G>A			B2RNY8	Silent	SNP	pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin	p.S259	ENST00000380622.2	37	c.777	CCDS48080.1	X																																																																																			ATXN3L	-	smart_Ubiquitin-int_motif		0.428	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN3L	HGNC	protein_coding	OTTHUMT00000055785.2	G	NM_001135995		13337277	-1	no_errors	ENST00000380622	ensembl	human	known	70_37	silent	SNP	0.010	A
BANP	54971	genome.wustl.edu	37	16	88110231	88110231	+	Silent	SNP	G	G	A	rs371858006		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr16:88110231G>A	ENST00000393207.1	+	14	1745	c.1524G>A	c.(1522-1524)gaG>gaA	p.E508E	BANP_ENST00000393208.2_Silent_p.E480E|BANP_ENST00000355163.5_Silent_p.E486E|BANP_ENST00000479780.2_Silent_p.E455E|BANP_ENST00000481948.1_3'UTR|BANP_ENST00000286122.7_Silent_p.E508E|BANP_ENST00000355022.4_Silent_p.E458E|BANP_ENST00000538234.1_Silent_p.E497E|RP11-863P13.5_ENST00000568267.1_lincRNA	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	508					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		TACAGCCGGAGATGCAGCTCG	0.662																																																	0													39.0	41.0	40.0					16																	88110231		2195	4299	6494	SO:0001819	synonymous_variant	54971			AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"""BEN domain containing"""	13450	protein-coding gene	gene with protein product	"""BEN domain containing 1"""	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.1524G>A	16.37:g.88110231G>A			A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Silent	SNP	pfam_BEN_domain	p.E508	ENST00000393207.1	37	c.1524	CCDS54054.1	16																																																																																			BANP	-	NULL		0.662	BANP-002	KNOWN	basic|CCDS	protein_coding	BANP	HGNC	protein_coding	OTTHUMT00000269166.1	G	NM_017869		88110231	+1	no_errors	ENST00000286122	ensembl	human	known	70_37	silent	SNP	0.858	A
BCOR	54880	genome.wustl.edu	37	X	39932689	39932689	+	Missense_Mutation	SNP	G	G	A	rs148052848		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chrX:39932689G>A	ENST00000378444.4	-	4	2138	c.1910C>T	c.(1909-1911)tCt>tTt	p.S637F	BCOR_ENST00000397354.3_Missense_Mutation_p.S637F|BCOR_ENST00000342274.4_Missense_Mutation_p.S637F|BCOR_ENST00000378455.4_Missense_Mutation_p.S637F	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	637	Pro-rich.				heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CAGAAATATAGAGCTTGGTGG	0.552			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																																	Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													59.0	55.0	56.0					X																	39932689		2202	4300	6502	SO:0001583	missense	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1910C>T	X.37:g.39932689G>A	ENSP00000367705:p.Ser637Phe		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S637F	ENST00000378444.4	37	c.1910	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880624	0.51801	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200;ENST00000501455	T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44	5.79	5.79	0.91817	.	.	.	.	.	T	0.29749	0.0743	N	0.19112	0.55	0.37007	D	0.895565	D;D;D;D	0.76494	0.998;0.999;0.996;0.999	D;D;P;D	0.70935	0.929;0.971;0.851;0.971	T	0.25950	-1.0117	9	0.72032	D	0.01	-6.1909	18.9979	0.92821	0.0:0.0:1.0:0.0	.	637;637;637;637	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	F	637;637;637;637;637;44	ENSP00000367716:S637F;ENSP00000380512:S637F;ENSP00000367705:S637F;ENSP00000345923:S637F;ENSP00000384485:S637F	ENSP00000345923:S637F	S	-	2	0	BCOR	39817633	1.000000	0.71417	0.346000	0.25655	0.920000	0.55202	6.778000	0.75043	2.435000	0.82474	0.600000	0.82982	TCT	BCOR	-	NULL		0.552	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	G	NM_017745		39932689	-1	no_errors	ENST00000378444	ensembl	human	known	70_37	missense	SNP	0.969	A
BEND3	57673	genome.wustl.edu	37	6	107419870	107419870	+	Missense_Mutation	SNP	T	T	C			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr6:107419870T>C	ENST00000369042.1	-	3	315	c.125A>G	c.(124-126)cAc>cGc	p.H42R	BEND3_ENST00000429433.2_Missense_Mutation_p.H42R			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	42										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GTCCACAGAGTGCTTCTCAGA	0.542																																																	0													112.0	106.0	108.0					6																	107419870		2203	4300	6503	SO:0001583	missense	57673			AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.125A>G	6.37:g.107419870T>C	ENSP00000358038:p.His42Arg		A2RRH2|Q9HCL9	Missense_Mutation	SNP	pfam_BEN_domain	p.H42R	ENST00000369042.1	37	c.125	CCDS34507.1	6	.	.	.	.	.	.	.	.	.	.	T	12.13	1.845092	0.32606	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.86	0.458	0.16670	.	0.538668	0.17751	N	0.163257	T	0.07369	0.0186	N	0.19112	0.55	0.28204	N	0.927238	B	0.09022	0.002	B	0.06405	0.002	T	0.29088	-1.0023	9	0.21014	T	0.42	8.1415	2.8661	0.05602	0.1324:0.0801:0.2761:0.5114	.	42	Q5T5X7	BEND3_HUMAN	R	42	.	ENSP00000358038:H42R	H	-	2	0	BEND3	107526563	1.000000	0.71417	0.999000	0.59377	0.483000	0.33249	1.009000	0.29886	0.427000	0.26145	0.533000	0.62120	CAC	BEND3	-	NULL		0.542	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND3	HGNC	protein_coding	OTTHUMT00000041686.1	T	NM_020913		107419870	-1	no_errors	ENST00000369042	ensembl	human	known	70_37	missense	SNP	0.925	C
BICD2	23299	genome.wustl.edu	37	9	95481438	95481438	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr9:95481438C>T	ENST00000375512.3	-	5	1556	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	BICD2_ENST00000356884.6_Missense_Mutation_p.E497K	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	497					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCCAGCAGCTCGCGGTCCTGG	0.662																																																	0													49.0	51.0	50.0					9																	95481438		2203	4300	6503	SO:0001583	missense	23299			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1489G>A	9.37:g.95481438C>T	ENSP00000364662:p.Glu497Lys		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	pfam_Bicaudal-D_microtubule-assoc	p.E497K	ENST00000375512.3	37	c.1489	CCDS6700.1	9	.	.	.	.	.	.	.	.	.	.	C	32	5.125966	0.94429	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.43294	0.95;0.95	5.39	5.39	0.77823	.	0.154950	0.56097	D	0.000026	T	0.38295	0.1035	L	0.35542	1.07	0.80722	D	1	D;D	0.54601	0.959;0.967	B;P	0.47075	0.401;0.536	T	0.05068	-1.0908	10	0.14252	T	0.57	-19.8848	17.0121	0.86409	0.0:1.0:0.0:0.0	.	497;497	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	K	497	ENSP00000349351:E497K;ENSP00000364662:E497K	ENSP00000349351:E497K	E	-	1	0	BICD2	94521259	1.000000	0.71417	0.831000	0.32960	0.873000	0.50193	7.644000	0.83416	2.707000	0.92482	0.561000	0.74099	GAG	BICD2	-	pfam_Bicaudal-D_microtubule-assoc		0.662	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BICD2	HGNC	protein_coding	OTTHUMT00000055508.1	C	NM_015250		95481438	-1	no_errors	ENST00000356884	ensembl	human	known	70_37	missense	SNP	0.999	T
BORA	79866	genome.wustl.edu	37	13	73320995	73320995	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr13:73320995C>T	ENST00000390667.5	+	10	1325	c.1228C>T	c.(1228-1230)Cag>Tag	p.Q410*	BORA_ENST00000377815.3_Nonsense_Mutation_p.Q340*	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	410					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										TACACAAAATCAGTCCAGTGC	0.438																																																	0													115.0	108.0	110.0					13																	73320995		1936	4137	6073	SO:0001587	stop_gained	79866			BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.1228C>T	13.37:g.73320995C>T	ENSP00000375082:p.Gln410*		B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Nonsense_Mutation	SNP	prints_Aurora_borealis_protien	p.Q410*	ENST00000390667.5	37	c.1228	CCDS9446.1	13	.	.	.	.	.	.	.	.	.	.	C	33	5.265152	0.95399	.	.	ENSG00000136122	ENST00000377815;ENST00000390667	.	.	.	5.7	4.83	0.62350	.	0.764575	0.13308	N	0.397697	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.0577	9.5433	0.39266	0.1425:0.7864:0.0:0.071	.	.	.	.	X	340;410	.	ENSP00000367046:Q340X	Q	+	1	0	BORA	72218996	0.430000	0.25538	0.010000	0.14722	0.884000	0.51177	3.390000	0.52523	2.687000	0.91594	0.655000	0.94253	CAG	BORA	-	NULL		0.438	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BORA	HGNC	protein_coding	OTTHUMT00000045245.3	C	NM_024808		73320995	+1	no_errors	ENST00000390667	ensembl	human	known	70_37	nonsense	SNP	0.072	T
CCDC180	100499483	genome.wustl.edu	37	9	100075523	100075523	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr9:100075523G>A	ENST00000357054.1	+	19	1839	c.904G>A	c.(904-906)Gag>Aag	p.E302K	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Missense_Mutation_p.E163K|CCDC180_ENST00000395220.1_Missense_Mutation_p.E302K|CCDC180_ENST00000529487.1_Missense_Mutation_p.E163K|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_Missense_Mutation_p.E163K			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	302						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CGCAGTTCCTGAGAAGATAAG	0.567																																																	0													123.0	105.0	111.0					9																	100075523		2203	4300	6503	SO:0001583	missense	100499483			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.904G>A	9.37:g.100075523G>A	ENSP00000349562:p.Glu302Lys		Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.E163K	ENST00000357054.1	37	c.487		9	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315723	0.60524	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.20881	2.83;2.04;2.87;2.49;2.87	5.71	4.82	0.62117	.	0.182328	0.38778	N	0.001576	T	0.24736	0.0600	M	0.66939	2.045	0.32262	N	0.569995	P;P;P;P	0.50272	0.933;0.75;0.933;0.859	P;B;P;B	0.45406	0.479;0.158;0.479;0.259	T	0.24905	-1.0147	10	0.14252	T	0.57	-9.1392	10.9577	0.47366	0.0859:0.0:0.9141:0.0	.	163;302;163;302	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	K	302;302;163;163;186;163	ENSP00000349562:E302K;ENSP00000378646:E302K;ENSP00000364348:E163K;ENSP00000414000:E163K;ENSP00000434727:E163K	ENSP00000349562:E302K	E	+	1	0	C9orf174	99115344	0.993000	0.37304	0.099000	0.21106	0.087000	0.18053	2.489000	0.45285	1.576000	0.49790	0.561000	0.74099	GAG	C9orf174	-	NULL		0.567	CCDC180-201	KNOWN	basic	protein_coding	C9orf174	HGNC	protein_coding		G	NM_020893		100075523	+1	no_errors	ENST00000375202	ensembl	human	known	70_37	missense	SNP	0.691	A
CA11	770	genome.wustl.edu	37	19	49142303	49142303	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr19:49142303G>A	ENST00000084798.4	-	8	1482	c.803C>T	c.(802-804)tCc>tTc	p.S268F	DBP_ENST00000601104.1_5'Flank|DBP_ENST00000222122.5_5'Flank|SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	268						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	GAGTCTCAGGGAGTGCATCTG	0.622																																																	0													37.0	35.0	35.0					19																	49142303		2203	4300	6503	SO:0001583	missense	770			AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"""Carbonic anhydrases"""	1370	protein-coding gene	gene with protein product	"""CA-RP XI"", ""carbonic anhydrase-related protein XI"", ""carbonic anhydrase-related protein 2"""	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.803C>T	19.37:g.49142303G>A	ENSP00000084798:p.Ser268Phe		O60596|Q6FHI1|Q9UEC4	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.S268F	ENST00000084798.4	37	c.803	CCDS12729.1	19	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520132	0.64747	.	.	ENSG00000063180	ENST00000084798	T	0.67865	-0.29	3.17	2.13	0.27403	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.070236	0.64402	D	0.000016	T	0.76955	0.4060	M	0.70595	2.14	0.46376	D	0.999013	D	0.89917	1.0	D	0.85130	0.997	T	0.76828	-0.2815	10	0.72032	D	0.01	.	8.5335	0.33349	0.122:0.0:0.878:0.0	.	268	O75493	CAH11_HUMAN	F	268	ENSP00000084798:S268F	ENSP00000084798:S268F	S	-	2	0	CA11	53834115	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	8.364000	0.90105	0.902000	0.36520	-0.259000	0.10710	TCC	CA11	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.622	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA11	HGNC	protein_coding	OTTHUMT00000466172.1	G	NM_001217		49142303	-1	no_errors	ENST00000084798	ensembl	human	known	70_37	missense	SNP	1.000	A
CACNA1C	775	genome.wustl.edu	37	12	2602389	2602389	+	Missense_Mutation	SNP	C	C	T	rs533892755		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr12:2602389C>T	ENST00000347598.4	+	7	950	c.950C>T	c.(949-951)gCg>gTg	p.A317V	CACNA1C_ENST00000399617.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000480911.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A317V|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A317V|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A317V|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A317V|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A317V|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A317V|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A317V	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	317					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)			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)	TCCCCTTGTGCGCTGGAAACG	0.592																																																	0													67.0	69.0	68.0					12																	2602389		2118	4252	6370	SO:0001583	missense	775			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.950C>T	12.37:g.2602389C>T	ENSP00000266376:p.Ala317Val		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	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.A317V	ENST00000347598.4	37	c.950	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731671	0.89390	.	.	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	-3.92;-3.94;-3.94;-3.93;-3.93;-3.93;-3.96;-3.84;-3.88;-3.93;-3.86;-3.85;-3.93;-3.99;-3.85;-3.77;-4.0;-3.95;-3.94;-3.97;-3.87;-3.96;-3.99	5.06	5.06	0.68205	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97586	0.9209	L	0.60845	1.875	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;1.0;1.0;0.995;0.988;1.0;1.0;0.988;1.0;1.0;1.0;1.0;0.999;1.0;0.998;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;P;D;D;P;D;D;D;D;P;D;P;D;D;D;D;D	0.87578	0.992;0.994;0.93;0.994;0.997;0.987;0.997;0.95;0.701;0.997;0.987;0.823;0.997;0.996;0.998;0.987;0.859;0.997;0.884;0.987;0.997;0.997;0.987;0.987	D	0.98070	1.0398	10	0.62326	D	0.03	.	18.6169	0.91305	0.0:1.0:0.0:0.0	.	317;314;317;317;317;317;317;317;317;317;317;288;317;317;317;317;317;317;317;317;317;317;317;317	Q13936-14;Q13936-35;Q13936;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;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	V	317;317;317;317;317;317;317;317;317;317;317;317;317;317;317;317;317;317;317;317;317;317;317;158	ENSP00000336982:A317V;ENSP00000382563:A317V;ENSP00000437936:A317V;ENSP00000382552:A317V;ENSP00000382547:A317V;ENSP00000382506:A317V;ENSP00000382530:A317V;ENSP00000382546:A317V;ENSP00000382500:A317V;ENSP00000382549:A317V;ENSP00000266376:A317V;ENSP00000382515:A317V;ENSP00000382510:A317V;ENSP00000341092:A317V;ENSP00000382537:A317V;ENSP00000329877:A317V;ENSP00000382557:A317V;ENSP00000385724:A317V;ENSP00000382512:A317V;ENSP00000382542:A317V;ENSP00000382526:A317V;ENSP00000385896:A317V;ENSP00000382504:A317V	ENSP00000323129:A158V	A	+	2	0	CACNA1C	2472650	1.000000	0.71417	0.965000	0.40720	0.549000	0.35272	7.420000	0.80191	2.633000	0.89246	0.455000	0.32223	GCG	CACNA1C	-	pfam_Ion_trans_dom		0.592	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	C	NM_000719		2602389	+1	no_errors	ENST00000399634	ensembl	human	known	70_37	missense	SNP	1.000	T
CACNB1	782	genome.wustl.edu	37	17	37353713	37353713	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr17:37353713G>T	ENST00000394303.3	-	1	243	c.36C>A	c.(34-36)taC>taA	p.Y12*	RPL19_ENST00000579260.1_5'Flank|RPL19_ENST00000582193.1_5'Flank|CACNB1_ENST00000344140.5_Nonsense_Mutation_p.Y12*|CACNB1_ENST00000582877.1_5'Flank|RPL19_ENST00000579374.1_5'Flank|CACNB1_ENST00000394310.3_Nonsense_Mutation_p.Y12*|RPL19_ENST00000225430.4_5'Flank	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	12					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGAGGGTGGGTAAGGGCCCC	0.736																																					Esophageal Squamous(5;100 366 38393 41452 45827)												0													14.0	13.0	13.0					17																	37353713		2148	4225	6373	SO:0001587	stop_gained	782				CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.36C>A	17.37:g.37353713G>T	ENSP00000377840:p.Tyr12*		A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Nonsense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su	p.Y12*	ENST00000394303.3	37	c.36	CCDS42311.1	17	.	.	.	.	.	.	.	.	.	.	g	37	6.508812	0.97624	.	.	ENSG00000067191	ENST00000394303;ENST00000344140;ENST00000394310	.	.	.	4.62	1.24	0.21308	.	0.517985	0.18261	N	0.146620	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9559	4.8342	0.13456	0.2091:0.0:0.6152:0.1757	.	.	.	.	X	12	.	ENSP00000345461:Y12X	Y	-	3	2	CACNB1	34607239	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.142000	0.50601	0.517000	0.28361	-0.224000	0.12420	TAC	CACNB1	-	prints_VDCC_L_b1su		0.736	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACNB1	HGNC	protein_coding	OTTHUMT00000256945.3	G			37353713	-1	no_errors	ENST00000394303	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CAMTA1	23261	genome.wustl.edu	37	1	7723699	7723699	+	Silent	SNP	C	C	T	rs370847468		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr1:7723699C>T	ENST00000303635.7	+	9	1299	c.1092C>T	c.(1090-1092)agC>agT	p.S364S	CAMTA1_ENST00000439411.2_Silent_p.S364S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	364					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCATCAGCAGCGGGCTCAACA	0.657			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0								C		1,4405	2.1+/-5.4	0,1,2202	97.0	97.0	97.0		1092	-0.3	1.0	1		97	0,8600		0,0,4300	no	coding-synonymous	CAMTA1	NM_015215.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		364/1674	7723699	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1092C>T	1.37:g.7723699C>T			A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.S364	ENST00000303635.7	37	c.1092	CCDS30576.1	1																																																																																			CAMTA1	-	NULL		0.657	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	C	NM_015215		7723699	+1	no_errors	ENST00000303635	ensembl	human	known	70_37	silent	SNP	0.996	T
CCDC37	348807	genome.wustl.edu	37	3	126151924	126151924	+	Silent	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr3:126151924C>T	ENST00000352312.1	+	14	1398	c.1299C>T	c.(1297-1299)gtC>gtT	p.V433V	CCDC37_ENST00000505024.1_Silent_p.V434V|CCDC37_ENST00000393425.1_Silent_p.V434V	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	433										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		ACAGGGAGGTCAACCAGCTGA	0.572																																																	0													87.0	75.0	79.0					3																	126151924		2203	4300	6503	SO:0001819	synonymous_variant	348807			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1299C>T	3.37:g.126151924C>T			D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	superfamily_SuperAg_toxin_C_Staph/Strep	p.V434	ENST00000352312.1	37	c.1302	CCDS3037.1	3																																																																																			CCDC37	-	superfamily_SuperAg_toxin_C_Staph/Strep		0.572	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	CCDC37	HGNC	protein_coding	OTTHUMT00000370099.4	C	NM_182628		126151924	+1	no_errors	ENST00000393425	ensembl	human	known	70_37	silent	SNP	0.973	T
CCDC63	160762	genome.wustl.edu	37	12	111291255	111291255	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr12:111291255C>T	ENST00000308208.5	+	3	298	c.56C>T	c.(55-57)tCg>tTg	p.S19L	CCDC63_ENST00000545036.1_5'UTR|CCDC63_ENST00000552694.1_Intron|CCDC63_ENST00000550317.1_Intron	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	19										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CAGGAACCTTCGGAGAAGGCC	0.562																																																	0													53.0	55.0	54.0					12																	111291255		2203	4300	6503	SO:0001583	missense	160762			AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.56C>T	12.37:g.111291255C>T	ENSP00000312399:p.Ser19Leu		B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	NULL	p.S19L	ENST00000308208.5	37	c.56	CCDS9151.1	12	.	.	.	.	.	.	.	.	.	.	C	15.72	2.915419	0.52546	.	.	ENSG00000173093	ENST00000308208	T	0.33654	1.4	5.2	2.22	0.28083	.	0.646950	0.13713	N	0.367929	T	0.35770	0.0943	M	0.70595	2.14	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.35847	-0.9772	10	0.66056	D	0.02	.	7.4676	0.27330	0.0:0.6945:0.0:0.3055	.	19	Q8NA47	CCD63_HUMAN	L	19	ENSP00000312399:S19L	ENSP00000312399:S19L	S	+	2	0	CCDC63	109775638	0.003000	0.15002	0.002000	0.10522	0.025000	0.11179	1.074000	0.30703	0.639000	0.30564	0.462000	0.41574	TCG	CCDC63	-	NULL		0.562	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC63	HGNC	protein_coding	OTTHUMT00000404673.2	C	NM_152591		111291255	+1	no_errors	ENST00000308208	ensembl	human	known	70_37	missense	SNP	0.000	T
CD97	976	genome.wustl.edu	37	19	14513542	14513542	+	Silent	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr19:14513542C>T	ENST00000242786.5	+	12	1397	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L	CD97_ENST00000357355.3_Silent_p.L390L|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Silent_p.L346L	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	439					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GTGTCCAACTCAGACGCCTCT	0.527																																																	0													202.0	167.0	179.0					19																	14513542		2203	4300	6503	SO:0001819	synonymous_variant	976				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1317C>T	19.37:g.14513542C>T			A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt	p.L439	ENST00000242786.5	37	c.1317	CCDS32929.1	19																																																																																			CD97	-	prints_GPCR_2_CD97		0.527	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD97	HGNC	protein_coding	OTTHUMT00000459821.2	C	NM_078481		14513542	+1	no_errors	ENST00000242786	ensembl	human	known	70_37	silent	SNP	0.000	T
CDH23	64072	genome.wustl.edu	37	10	73501685	73501685	+	Intron	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr10:73501685G>A	ENST00000224721.6	+	37	4865					NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23						calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTCGGTGAGCGATGGGGGTGG	0.672																																																	0													10.0	12.0	11.0					10																	73501685		2089	4205	6294	SO:0001627	intron_variant	64072			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.4860+7G>A	10.37:g.73501685G>A			C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D438N	ENST00000224721.6	37	c.1312		10	.	.	.	.	.	.	.	.	.	.	G	9.874	1.199764	0.22121	.	.	ENSG00000107736	ENST00000398792	.	.	.	5.09	-2.65	0.06095	.	.	.	.	.	T	0.22244	0.0536	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21621	-1.0240	6	.	.	.	.	6.8426	0.23971	0.43:0.3489:0.2211:0.0	.	438	E7ERT0	.	N	438	.	.	D	+	1	0	CDH23	73171691	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.085000	0.11250	-0.968000	0.03578	-0.792000	0.03331	GAT	CDH23	-	smart_Cadherin		0.672	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	G	NM_052836		73501685	+1	no_errors	ENST00000398792	ensembl	human	known	70_37	missense	SNP	0.000	A
CDK13	8621	genome.wustl.edu	37	7	40132638	40132638	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr7:40132638C>T	ENST00000181839.4	+	13	4095	c.3490C>T	c.(3490-3492)Cag>Tag	p.Q1164*	CDK13_ENST00000340829.5_Nonsense_Mutation_p.Q1104*	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1164					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GCCTTCTTCTCAGACCATCCA	0.488																																																	0													160.0	163.0	162.0					7																	40132638		2203	4300	6503	SO:0001587	stop_gained	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3490C>T	7.37:g.40132638C>T	ENSP00000181839:p.Gln1164*		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q1164*	ENST00000181839.4	37	c.3490	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	C	41	8.917918	0.99002	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.1807	20.2192	0.98319	0.0:1.0:0.0:0.0	.	.	.	.	X	1164;1104	.	.	Q	+	1	0	CDK13	40099163	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	5.891000	0.69782	2.780000	0.95670	0.655000	0.94253	CAG	CDK13	-	NULL		0.488	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	HGNC	protein_coding	OTTHUMT00000250726.2	C	NM_003718		40132638	+1	no_errors	ENST00000181839	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CHST5	23563	genome.wustl.edu	37	16	75564065	75564065	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr16:75564065G>A	ENST00000336257.3	-	3	1612	c.218C>T	c.(217-219)tCg>tTg	p.S73L	CHST5_ENST00000541075.1_Missense_Mutation_p.S79L|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	73					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GGATGAGCCCGAGCGCCACGA	0.667																																																	0													44.0	39.0	40.0					16																	75564065		2198	4300	6498	SO:0001583	missense	23563			AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.218C>T	16.37:g.75564065G>A	ENSP00000338783:p.Ser73Leu		B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.S79L	ENST00000336257.3	37	c.236	CCDS10919.1	16	.	.	.	.	.	.	.	.	.	.	G	15.56	2.869954	0.51588	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	T;T	0.39406	1.08;1.08	2.73	2.73	0.32206	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.67069	0.2854	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74441	-0.3664	10	0.66056	D	0.02	.	12.3965	0.55389	0.0:0.0:1.0:0.0	.	79;73	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	L	73;79	ENSP00000338783:S73L;ENSP00000441220:S79L	ENSP00000338783:S73L	S	-	2	0	CHST5	74121566	1.000000	0.71417	0.996000	0.52242	0.033000	0.12548	9.258000	0.95555	1.514000	0.48869	0.313000	0.20887	TCG	CHST5	-	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase		0.667	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST5	HGNC	protein_coding	OTTHUMT00000269025.2	G	NM_012126		75564065	-1	no_errors	ENST00000541075	ensembl	human	known	70_37	missense	SNP	1.000	A
CLASP1	23332	genome.wustl.edu	37	2	122139867	122139867	+	Silent	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr2:122139867C>T	ENST00000263710.4	-	33	3797	c.3408G>A	c.(3406-3408)gcG>gcA	p.A1136A	CLASP1_ENST00000455322.2_Intron|CLASP1_ENST00000541377.1_Intron|CLASP1_ENST00000409078.3_Intron|CLASP1_ENST00000541859.1_Intron|CLASP1_ENST00000545861.1_Intron|CLASP1_ENST00000397587.3_Intron	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1136					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GTGGGTGCTTCGCTAACCCGT	0.542																																																	0													68.0	78.0	75.0					2																	122139867		1985	4140	6125	SO:0001819	synonymous_variant	23332			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.3408G>A	2.37:g.122139867C>T			B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Silent	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.A1136	ENST00000263710.4	37	c.3408		2																																																																																			CLASP1	-	superfamily_ARM-type_fold		0.542	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		C	NM_015282		122139867	-1	no_errors	ENST00000263710	ensembl	human	known	70_37	silent	SNP	1.000	T
CMSS1	84319	genome.wustl.edu	37	3	99879313	99879313	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr3:99879313G>A	ENST00000421999.2	+	3	339	c.193G>A	c.(193-195)Gag>Aag	p.E65K	CMSS1_ENST00000489081.1_Missense_Mutation_p.E47K	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)	65							poly(A) RNA binding (GO:0044822)										GGAAAGAAAAGAGAATACCAC	0.294																																																	0													42.0	44.0	43.0					3																	99879313		2196	4295	6491	SO:0001583	missense	84319				CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 26"""	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.193G>A	3.37:g.99879313G>A	ENSP00000410396:p.Glu65Lys		A8K5S7|B4DUM1|E9PHS3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N	p.E65K	ENST00000421999.2	37	c.193	CCDS2935.1	3	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731183	0.30684	.	.	ENSG00000184220	ENST00000421999;ENST00000489081;ENST00000478909	T;T;T	0.28454	1.61;1.61;1.61	5.74	1.83	0.25207	.	0.678852	0.15707	N	0.248637	T	0.21921	0.0528	L	0.47716	1.5	0.09310	N	1	P	0.43231	0.801	B	0.37780	0.258	T	0.09862	-1.0655	9	.	.	.	.	5.3311	0.15932	0.2468:0.1468:0.6064:0.0	.	65	Q9BQ75	CC026_HUMAN	K	65;47;21	ENSP00000410396:E65K;ENSP00000419161:E47K;ENSP00000417293:E21K	.	E	+	1	0	C3orf26	101362003	0.638000	0.27225	0.000000	0.03702	0.393000	0.30537	2.318000	0.43779	0.049000	0.15920	0.563000	0.77884	GAG	CMSS1	-	NULL		0.294	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMSS1	HGNC	protein_coding	OTTHUMT00000353060.1	G	NM_032359		99879313	+1	no_errors	ENST00000421999	ensembl	human	known	70_37	missense	SNP	0.000	A
COL12A1	1303	genome.wustl.edu	37	6	75898136	75898136	+	Silent	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr6:75898136G>A	ENST00000322507.8	-	8	1248	c.939C>T	c.(937-939)atC>atT	p.I313I	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.I313I|COL12A1_ENST00000483888.2_Silent_p.I313I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	313	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACACCTGGGAGATGATCTCAT	0.423																																																	0													218.0	198.0	205.0					6																	75898136		1967	4162	6129	SO:0001819	synonymous_variant	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.939C>T	6.37:g.75898136G>A			O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.I313	ENST00000322507.8	37	c.939	CCDS43482.1	6																																																																																			COL12A1	-	smart_VWF_A,pfscan_VWF_A		0.423	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	G	NM_004370		75898136	-1	no_errors	ENST00000322507	ensembl	human	known	70_37	silent	SNP	0.994	A
CPED1	79974	genome.wustl.edu	37	7	120768478	120768478	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr7:120768478G>C	ENST00000310396.5	+	11	1812	c.1345G>C	c.(1345-1347)Gaa>Caa	p.E449Q	CPED1_ENST00000423795.1_Missense_Mutation_p.E229Q|CPED1_ENST00000450913.2_Missense_Mutation_p.E449Q	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	449						endoplasmic reticulum (GO:0005783)											TCTGTCCTTAGAAGAAATTAA	0.353																																																	0													89.0	91.0	90.0					7																	120768478		2203	4300	6503	SO:0001583	missense	79974				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1345G>C	7.37:g.120768478G>C	ENSP00000309772:p.Glu449Gln		A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	NULL	p.E449Q	ENST00000310396.5	37	c.1345	CCDS34739.1	7	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295759	0.81025	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	T;T;T;T;T	0.57107	1.8;0.42;1.46;1.46;0.99	5.74	5.74	0.90152	.	0.238003	0.41500	D	0.000868	T	0.66771	0.2823	M	0.72894	2.215	0.80722	D	1	D;D;D	0.61697	0.961;0.971;0.99	P;P;P	0.55455	0.603;0.776;0.77	T	0.68326	-0.5438	10	0.54805	T	0.06	.	16.6406	0.85098	0.0:0.0:1.0:0.0	.	229;449;449	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	Q	449;449;449;229;229	ENSP00000309772:E449Q;ENSP00000398082:E449Q;ENSP00000406122:E449Q;ENSP00000415573:E229Q;ENSP00000391952:E229Q	ENSP00000309772:E449Q	E	+	1	0	C7orf58	120555714	1.000000	0.71417	0.961000	0.40146	0.874000	0.50279	5.723000	0.68492	2.714000	0.92807	0.585000	0.79938	GAA	CPED1	-	NULL		0.353	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPED1	HGNC	protein_coding	OTTHUMT00000346959.1	G	NM_024913		120768478	+1	no_errors	ENST00000310396	ensembl	human	known	70_37	missense	SNP	0.999	C
CPNE7	27132	genome.wustl.edu	37	16	89650445	89650445	+	Missense_Mutation	SNP	G	G	A	rs369886930		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr16:89650445G>A	ENST00000268720.5	+	6	797	c.667G>A	c.(667-669)Gag>Aag	p.E223K	CPNE7_ENST00000319518.8_Missense_Mutation_p.E148K	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	223					lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GGTGATCGCCGAGGACATCTC	0.706																																																	0								G	LYS/GLU,LYS/GLU	0,4392		0,0,2196	47.0	45.0	46.0		667,442	2.3	0.7	16		46	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CPNE7	NM_014427.4,NM_153636.2	56,56	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	223/634,148/559	89650445	1,12991	2196	4300	6496	SO:0001583	missense	27132			AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.667G>A	16.37:g.89650445G>A	ENSP00000268720:p.Glu223Lys			Missense_Mutation	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A	p.E223K	ENST00000268720.5	37	c.667	CCDS10980.1	16	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182113	0.78677	0.0	1.16E-4	ENSG00000178773	ENST00000319518;ENST00000268720	T;T	0.17691	2.26;2.26	3.32	2.34	0.29019	C2 calcium-dependent membrane targeting (1);	0.318435	0.33875	N	0.004478	T	0.33352	0.0860	M	0.72479	2.2	0.45330	D	0.998327	D;D	0.76494	0.969;0.999	P;P	0.60609	0.572;0.877	T	0.09271	-1.0682	10	0.87932	D	0	-24.8168	10.0347	0.42122	0.1062:0.0:0.8938:0.0	.	148;223	Q9UBL6-2;Q9UBL6	.;CPNE7_HUMAN	K	148;223	ENSP00000317374:E148K;ENSP00000268720:E223K	ENSP00000268720:E223K	E	+	1	0	CPNE7	88177946	1.000000	0.71417	0.694000	0.30210	0.600000	0.36913	4.604000	0.61112	0.714000	0.32081	0.491000	0.48974	GAG	CPNE7	-	smart_C2_Ca-dep		0.706	CPNE7-002	KNOWN	basic|CCDS	protein_coding	CPNE7	HGNC	protein_coding	OTTHUMT00000269929.2	G			89650445	+1	no_errors	ENST00000268720	ensembl	human	known	70_37	missense	SNP	1.000	A
CROCCP2	84809	genome.wustl.edu	37	1	16956889	16956892	+	lincRNA	DEL	CAGA	CAGA	-	rs539867279	byFrequency	TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	CAGA	CAGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr1:16956889_16956892delCAGA	ENST00000412962.1	-	0	294							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CCCGGGATGCCAGACAAACTCCCA	0.627														26	0.00519169	0.0023	0.0014	5008	,	,		57676	0.001		0.0169	False		,,,				2504	0.0041																0																																												84809			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16956889_16956892delCAGA			Q8NF65|Q96FR5|Q9BRE8	RNA	DEL	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-		0.627	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	CAGA	NR_026752.1		16956892	-1	no_errors	ENST00000362058	ensembl	human	known	70_37	rna	DEL	0.064:0.065:0.068:0.074	-
CSMD2	114784	genome.wustl.edu	37	1	34192168	34192168	+	Silent	SNP	G	G	T	rs549017762		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr1:34192168G>T	ENST00000373381.4	-	16	2663	c.2487C>A	c.(2485-2487)ccC>ccA	p.P829P		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	789	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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)				TGATTTTGATGGGGTAGCCTG	0.597																																																	0													52.0	56.0	55.0					1																	34192168		2203	4300	6503	SO:0001819	synonymous_variant	114784			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.2487C>A	1.37:g.34192168G>T			B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.P829	ENST00000373381.4	37	c.2487		1																																																																																			CSMD2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.597	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		G	NM_052896		34192168	-1	no_errors	ENST00000373381	ensembl	human	known	70_37	silent	SNP	1.000	T
CUL7	9820	genome.wustl.edu	37	6	43010606	43010606	+	Missense_Mutation	SNP	G	G	T	rs150591409		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr6:43010606G>T	ENST00000265348.3	-	19	3664	c.3579C>A	c.(3577-3579)ttC>ttA	p.F1193L	CUL7_ENST00000478630.1_5'Flank|CUL7_ENST00000535468.1_Missense_Mutation_p.F1277L			Q14999	CUL7_HUMAN	cullin 7	1193					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCGCCAGCAAGAAGGCTGCCC	0.547																																																	0													45.0	42.0	43.0					6																	43010606		2203	4300	6503	SO:0001583	missense	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.3579C>A	6.37:g.43010606G>T	ENSP00000265348:p.Phe1193Leu		B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.F1277L	ENST00000265348.3	37	c.3831	CCDS4881.1	6	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280740	0.80692	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.78246	-1.16;-1.16	5.59	2.84	0.33178	Cullin, N-terminal (1);	0.197401	0.53938	N	0.000045	T	0.80149	0.4570	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.997;0.998;0.999;0.999	T	0.80734	-0.1250	10	0.72032	D	0.01	-13.3784	9.6437	0.39855	0.339:0.0:0.661:0.0	.	1277;1193;1277;1193	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	L	1193;1277	ENSP00000265348:F1193L;ENSP00000438788:F1277L	ENSP00000265348:F1193L	F	-	3	2	CUL7	43118584	0.972000	0.33761	0.995000	0.50966	0.971000	0.66376	1.495000	0.35627	0.302000	0.22762	0.579000	0.79373	TTC	CUL7	-	pfam_Cullin_N		0.547	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	G	NM_014780		43010606	-1	no_errors	ENST00000535468	ensembl	human	known	70_37	missense	SNP	0.995	T
CXorf67	340602	genome.wustl.edu	37	X	51149908	51149908	+	Missense_Mutation	SNP	C	C	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chrX:51149908C>A	ENST00000342995.2	+	1	142	c.40C>A	c.(40-42)Cag>Aag	p.Q14K				Q86X51	CX067_HUMAN	chromosome X open reading frame 67	14								p.Q14*(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						GCAGAAGCACCAGCAGGACGA	0.627																																																	1	Substitution - Nonsense(1)	lung(1)											72.0	60.0	64.0					X																	51149908		2203	4300	6503	SO:0001583	missense	340602			BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690			33738	protein-coding gene	gene with protein product						23959973	Standard	XR_113306		Approved			Q86X51	OTTHUMG00000187481	ENST00000342995.2:c.40C>A	X.37:g.51149908C>A	ENSP00000342680:p.Gln14Lys			Missense_Mutation	SNP	NULL	p.Q14K	ENST00000342995.2	37	c.40		X	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379639	0.42207	.	.	ENSG00000187690	ENST00000342995	T	0.49720	0.77	3.04	1.23	0.21249	.	2.898490	0.01245	N	0.008732	T	0.38268	0.1034	.	.	.	0.09310	N	1	P	0.42584	0.784	B	0.40101	0.319	T	0.22347	-1.0219	9	0.49607	T	0.09	1.0E-4	3.685	0.08324	0.0:0.5581:0.2836:0.1582	.	14	Q86X51	CX067_HUMAN	K	14	ENSP00000342680:Q14K	ENSP00000342680:Q14K	Q	+	1	0	CXorf67	51166648	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.089000	0.15002	0.203000	0.20529	0.529000	0.55759	CAG	CXorf67	-	NULL		0.627	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	CXorf67	HGNC	protein_coding		C	NM_203407		51149908	+1	no_errors	ENST00000342995	ensembl	human	known	70_37	missense	SNP	0.000	A
CYP19A1	1588	genome.wustl.edu	37	15	51503070	51503070	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr15:51503070C>T	ENST00000396402.1	-	10	1600	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	CYP19A1_ENST00000559878.1_Missense_Mutation_p.E483K|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.E483K|CYP19A1_ENST00000396404.4_Missense_Mutation_p.E483K	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	483					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	TTTTTAGTCTCATCTGGGTGC	0.463																																					Melanoma(142;1016 1807 39614 48966 51721)												0													247.0	215.0	226.0					15																	51503070		2196	4293	6489	SO:0001583	missense	1588			D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"""Cytochrome P450s"""	2594	protein-coding gene	gene with protein product		107910	"""cytochrome P450, subfamily XIX (aromatization of androgens)"""	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.1447G>A	15.37:g.51503070C>T	ENSP00000379683:p.Glu483Lys		Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.E483K	ENST00000396402.1	37	c.1447	CCDS10139.1	15	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651639	0.47362	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000396404	T;T;T	0.66995	-0.24;-0.24;-0.24	5.46	4.54	0.55810	.	0.043384	0.85682	D	0.000000	T	0.74861	0.3772	M	0.80508	2.5	0.80722	D	1	B	0.24368	0.102	B	0.37015	0.239	T	0.76586	-0.2905	10	0.87932	D	0	-16.5414	16.6992	0.85344	0.0:0.8704:0.1296:0.0	.	483	P11511	CP19A_HUMAN	K	483	ENSP00000379683:E483K;ENSP00000260433:E483K;ENSP00000379685:E483K	ENSP00000260433:E483K	E	-	1	0	CYP19A1	49290362	1.000000	0.71417	0.249000	0.24280	0.016000	0.09150	4.626000	0.61269	1.440000	0.47531	-0.150000	0.13652	GAG	CYP19A1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.463	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP19A1	HGNC	protein_coding	OTTHUMT00000254669.1	C			51503070	-1	no_errors	ENST00000260433	ensembl	human	known	70_37	missense	SNP	0.996	T
DDI2	84301	genome.wustl.edu	37	1	15959933	15959933	+	Splice_Site	SNP	G	G	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr1:15959933G>T	ENST00000480945.1	+	4	676		c.e4-1			NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)								aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TATTTTTGTAGAGAAATTTTC	0.393																																																	0													118.0	146.0	136.0					1																	15959933		2203	4300	6503	SO:0001630	splice_region_variant	84301				CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"""				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.506-1G>T	1.37:g.15959933G>T			A8KAE1|Q7RTZ0|Q9BRT1	Splice_Site	SNP	-	e4-1	ENST00000480945.1	37	c.506-1	CCDS30607.1	1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347489	0.82022	.	.	ENSG00000197312	ENST00000480945	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3107	0.94186	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDI2	15832520	1.000000	0.71417	0.998000	0.56505	0.898000	0.52572	9.400000	0.97290	2.657000	0.90304	0.655000	0.94253	.	DDI2	-	-		0.393	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDI2	HGNC	protein_coding	OTTHUMT00000006826.1	G	NM_032341	Intron	15959933	+1	no_errors	ENST00000480945	ensembl	human	known	70_37	splice_site	SNP	1.000	T
DIDO1	11083	genome.wustl.edu	37	20	61510621	61510621	+	Silent	SNP	C	C	T	rs372132324		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr20:61510621C>T	ENST00000266070.4	-	16	7012	c.6687G>A	c.(6685-6687)tcG>tcA	p.S2229S	DIDO1_ENST00000395343.1_Silent_p.S2229S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2229					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)			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)					CGGAGGCCCTCGAGGCCTCGG	0.662																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													8.0	7.0	7.0					20																	61510621		2142	4201	6343	SO:0001819	synonymous_variant	11083			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.6687G>A	20.37:g.61510621C>T			A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.S2229	ENST00000266070.4	37	c.6687	CCDS33506.1	20																																																																																			DIDO1	-	NULL		0.662	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	C	NM_080796		61510621	-1	no_errors	ENST00000266070	ensembl	human	known	70_37	silent	SNP	0.000	T
DNAJB12	54788	genome.wustl.edu	37	10	74103225	74103225	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr10:74103225C>T	ENST00000444643.2	-	3	688	c.356G>A	c.(355-357)aGa>aAa	p.R119K	DNAJB12_ENST00000338820.3_Missense_Mutation_p.R153K|DNAJB12_ENST00000394903.2_Missense_Mutation_p.R153K|DNAJB12_ENST00000461919.1_5'UTR			Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	119	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|skin(1)	4						CGAGGCCCCTCTGCTCACCCC	0.567																																																	0													117.0	105.0	109.0					10																	74103225		2203	4300	6503	SO:0001583	missense	54788			AK000034	CCDS7316.2	10q22	2011-09-02			ENSG00000148719	ENSG00000148719		"""Heat shock proteins / DNAJ (HSP40)"""	14891	protein-coding gene	gene with protein product		608376				11147971	Standard	NM_001002762		Approved	DJ10, FLJ20027	uc001jta.2	Q9NXW2	OTTHUMG00000018436	ENST00000444643.2:c.356G>A	10.37:g.74103225C>T	ENSP00000403313:p.Arg119Lys		B7Z7I3|Q9H6H0	Missense_Mutation	SNP	pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.R153K	ENST00000444643.2	37	c.458		10	.	.	.	.	.	.	.	.	.	.	C	12.49	1.953797	0.34471	.	.	ENSG00000148719	ENST00000338820;ENST00000394903;ENST00000444643	T;T;T	0.28895	1.59;1.59;1.59	5.29	5.29	0.74685	Heat shock protein DnaJ, N-terminal (5);	0.043759	0.85682	D	0.000000	T	0.22820	0.0551	L	0.31420	0.93	0.54753	D	0.999982	B;B	0.18166	0.021;0.026	B;B	0.17433	0.018;0.017	T	0.08493	-1.0719	10	0.02654	T	1	-9.2802	19.1804	0.93620	0.0:1.0:0.0:0.0	.	119;119	Q9NXW2-2;Q9NXW2	.;DJB12_HUMAN	K	153;153;119	ENSP00000345575:R153K;ENSP00000378363:R153K;ENSP00000403313:R119K	ENSP00000345575:R153K	R	-	2	0	DNAJB12	73773231	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.655000	0.61476	2.764000	0.94973	0.650000	0.86243	AGA	DNAJB12	-	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ		0.567	DNAJB12-001	KNOWN	basic|appris_principal	protein_coding	DNAJB12	HGNC	protein_coding	OTTHUMT00000048581.2	C			74103225	-1	no_errors	ENST00000338820	ensembl	human	known	70_37	missense	SNP	1.000	T
DYNLRB1	83658	genome.wustl.edu	37	20	33128394	33128394	+	Missense_Mutation	SNP	A	A	G			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr20:33128394A>G	ENST00000357156.2	+	4	307	c.257A>G	c.(256-258)tAt>tGt	p.Y86C	DYNLRB1_ENST00000374846.3_Missense_Mutation_p.Y138C|DYNLRB1_ENST00000480759.1_3'UTR	NM_001281727.1|NM_001281728.1|NM_014183.2|NM_177953.2	NP_001268656.1|NP_001268657.1|NP_054902.1|NP_808852.1	Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1	86					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)|visual behavior (GO:0007632)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(1)	3						GATAAAGACTATTTCCTGATT	0.333																																																	0													85.0	78.0	81.0					20																	33128394		2203	4300	6503	SO:0001583	missense	83658			AF132750	CCDS13235.1	20q11.21	2008-01-18	2005-11-25	2005-11-25	ENSG00000125971	ENSG00000125971		"""Cytoplasmic dyneins"""	15468	protein-coding gene	gene with protein product	"""roadblock domain containing 1"""	607167	"""dynein, cytoplasmic, light polypeptide 2A"""	DNCL2A		11750132, 16260502	Standard	NM_177953		Approved	DNLC2A, ROBLD1	uc002xal.3	Q9NP97	OTTHUMG00000032302	ENST00000357156.2:c.257A>G	20.37:g.33128394A>G	ENSP00000349679:p.Tyr86Cys		B1AKR5|Q5TC72|Q96IV3|Q9NQM2	Missense_Mutation	SNP	pfam_Dynein_light-rel,smart_Dynein_light-rel,pirsf_Dynein_light_roadblock-type	p.Y86C	ENST00000357156.2	37	c.257	CCDS13235.1	20	.	.	.	.	.	.	.	.	.	.	A	22.6	4.314669	0.81358	.	.	ENSG00000125971	ENST00000357156;ENST00000374846	T;T	0.26810	1.71;1.71	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.50171	0.1600	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.63793	0.918	T	0.54268	-0.8319	9	0.87932	D	0	-4.5013	15.7101	0.77620	1.0:0.0:0.0:0.0	.	86	Q9NP97	DLRB1_HUMAN	C	86;138	ENSP00000349679:Y86C;ENSP00000363979:Y138C	ENSP00000349679:Y86C	Y	+	2	0	DYNLRB1	32592055	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.550000	0.73905	2.183000	0.69458	0.533000	0.62120	TAT	DYNLRB1	-	pfam_Dynein_light-rel,smart_Dynein_light-rel,pirsf_Dynein_light_roadblock-type		0.333	DYNLRB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNLRB1	HGNC	protein_coding	OTTHUMT00000078791.1	A	NM_014183		33128394	+1	no_errors	ENST00000357156	ensembl	human	known	70_37	missense	SNP	1.000	G
EIF5B	9669	genome.wustl.edu	37	2	100011189	100011189	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr2:100011189G>A	ENST00000289371.6	+	21	3299	c.3097G>A	c.(3097-3099)Gta>Ata	p.V1033I		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	1033					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TAGGTATGCAGTAATTTTGGC	0.328																																					Colon(162;2388 2567 2705 3444)												0													156.0	138.0	144.0					2																	100011189		1849	4099	5948	SO:0001583	missense	9669			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.3097G>A	2.37:g.100011189G>A	ENSP00000289371:p.Val1033Ile		O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.V1033I	ENST00000289371.6	37	c.3097	CCDS42721.1	2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150903	0.78001	.	.	ENSG00000158417	ENST00000289371	T	0.40476	1.03	5.7	5.7	0.88788	Translation initiation factor IF- 2, domain 3 (3);	.	.	.	.	T	0.51873	0.1700	L	0.33710	1.025	0.80722	D	1	P	0.47191	0.891	P	0.58013	0.831	T	0.34030	-0.9845	8	.	.	.	-23.7505	19.8424	0.96695	0.0:0.0:1.0:0.0	.	1033	O60841	IF2P_HUMAN	I	1033	ENSP00000289371:V1033I	.	V	+	1	0	EIF5B	99377621	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	9.476000	0.97823	2.673000	0.90976	0.655000	0.94253	GTA	EIF5B	-	pfam_TIF_IF2_dom3,superfamily_TIF_IF2_dom3		0.328	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5B	HGNC	protein_coding	OTTHUMT00000330364.2	G	NM_015904		100011189	+1	no_errors	ENST00000289371	ensembl	human	known	70_37	missense	SNP	1.000	A
AL591415.1	0	genome.wustl.edu	37	1	48086767	48086768	+	RNA	INS	-	-	TCTA	rs55907557|rs199773836	byFrequency	TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr1:48086767_48086768insTCTA	ENST00000408520.1	-	0	81_82																											CTCTCTCTCTCTATATATATAT	0.45																																																	0																																												0																															1.37:g.48086767_48086768insTCTA				RNA	INS	-	NULL	ENST00000408520.1	37	NULL		1																																																																																			AL591415.1	-	-		0.450	AL591415.1-201	NOVEL	basic	miRNA	ENSG00000221447	Clone_based_ensembl_gene	miRNA		-			48086768	-1	no_errors	ENST00000408520	ensembl	human	novel	70_37	rna	INS	0.002:0.000	TCTA
RP11-403I13.4	0	genome.wustl.edu	37	1	149265408	149265411	+	lincRNA	DEL	TTTG	TTTG	-	rs200322205		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	TTTG	TTTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr1:149265408_149265411delTTTG	ENST00000325963.8	+	0	4955_4958																											TTTAATTTCCTTTGTTTGAATGAA	0.284																																																	0																																												0																															1.37:g.149265412_149265415delTTTG				RNA	DEL	-	NULL	ENST00000325963.8	37	NULL		1																																																																																			RP11-403I13.4	-	-		0.284	RP11-403I13.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	ENSG00000223779	Clone_based_vega_gene	lincRNA	OTTHUMT00000099551.1	TTTG			149265411	+1	no_errors	ENST00000325963	ensembl	human	known	70_37	rna	DEL	0.054:0.053:0.077:0.148	-
FAM27B	100133121	genome.wustl.edu	37	9	67793766	67793766	+	Intron	DEL	A	A	-	rs372691371		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr9:67793766delA	ENST00000377484.3	-	1	215				RP11-12A20.7_ENST00000315762.5_RNA			Q5VT28	FAM27_HUMAN	family with sequence similarity 27, member B																		acacaccaccaggcaacccct	0.587																																																	0																																										SO:0001627	intron_variant	0					9q13	2014-05-06			ENSG00000170215	ENSG00000278763			23667	other	unknown							Standard	NR_027422		Approved	bA12A20.3, FAM27A2	uc004aet.4	Q5VT28	OTTHUMG00000188586	ENST00000377484.3:c.78+130T>-	9.37:g.67793766delA				RNA	DEL	-	NULL	ENST00000377484.3	37	NULL		9																																																																																			RP11-12A20.7	-	-		0.587	FAM27B-001	KNOWN	basic|appris_principal	protein_coding	ENSG00000236233	Clone_based_vega_gene	protein_coding	OTTHUMT00000037106.1	A	NR_027422		67793766	+1	no_errors	ENST00000315762	ensembl	human	known	70_37	rna	DEL	0.015	-
ETV4	2118	genome.wustl.edu	37	17	41610668	41610668	+	Silent	SNP	A	A	G			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr17:41610668A>G	ENST00000319349.5	-	7	730	c.432T>C	c.(430-432)ggT>ggC	p.G144G	ETV4_ENST00000586826.1_5'Flank|ETV4_ENST00000591713.1_Silent_p.G144G|ETV4_ENST00000545954.1_Silent_p.G105G|ETV4_ENST00000393664.2_Silent_p.G144G|ETV4_ENST00000538265.1_Silent_p.G105G|ETV4_ENST00000545089.1_Intron	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	144					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GTCCAAGGGCACCAGGGGCAG	0.622			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""																																Esophageal Squamous(116;1540 1611 12927 31103 34118)			Dom	yes		17	17q21	2118	"""ets variant gene 4 (E1A enhancer binding protein, E1AF)"""		"""M, E"""	0													43.0	45.0	44.0					17																	41610668		2203	4300	6503	SO:0001819	synonymous_variant	2118			U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"""E1A enhancer binding protein"""	600711	"""ets variant gene 4 (E1A enhancer-binding protein, E1AF)"""			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.432T>C	17.37:g.41610668A>G			A8K314|B7Z5J3|B7Z9J6|Q96AW9	Silent	SNP	pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.G144	ENST00000319349.5	37	c.432	CCDS11465.1	17																																																																																			ETV4	-	pfam_ETS_PEA3_N		0.622	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV4	HGNC	protein_coding	OTTHUMT00000453489.1	A	NM_001986		41610668	-1	no_errors	ENST00000319349	ensembl	human	known	70_37	silent	SNP	0.894	G
FOXM1	2305	genome.wustl.edu	37	12	2983505	2983505	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr12:2983505G>C	ENST00000359843.3	-	2	208	c.140C>G	c.(139-141)tCc>tGc	p.S47C	FOXM1_ENST00000361953.3_Missense_Mutation_p.S47C|FOXM1_ENST00000537018.1_5'Flank|RHNO1_ENST00000461997.2_5'Flank|RHNO1_ENST00000489288.2_5'Flank|FOXM1_ENST00000342628.2_Missense_Mutation_p.S47C	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	47					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CACTTCCTTGGAGGCCTCTGC	0.532																																																	0													124.0	127.0	126.0					12																	2983505		2203	4300	6503	SO:0001583	missense	2305			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.140C>G	12.37:g.2983505G>C	ENSP00000352901:p.Ser47Cys		O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S47C	ENST00000359843.3	37	c.140	CCDS8515.1	12	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463653	0.26248	.	.	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	D;D;D	0.94138	-3.25;-3.36;-3.26	5.15	5.15	0.70609	.	0.380247	0.25313	N	0.031561	D	0.92319	0.7563	M	0.65975	2.015	0.43263	D	0.995202	B;B;B;B;B	0.19445	0.011;0.011;0.02;0.011;0.036	B;B;B;B;B	0.21708	0.016;0.016;0.036;0.016;0.036	D	0.90021	0.4128	10	0.66056	D	0.02	.	15.086	0.72155	0.0:0.1419:0.8581:0.0	.	47;47;47;47;47	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3	.;.;.;FOXM1_HUMAN;.	C	47	ENSP00000342307:S47C;ENSP00000354492:S47C;ENSP00000352901:S47C	ENSP00000342307:S47C	S	-	2	0	FOXM1	2853766	1.000000	0.71417	0.910000	0.35882	0.157000	0.22087	4.096000	0.57734	2.674000	0.91012	0.655000	0.94253	TCC	FOXM1	-	NULL		0.532	FOXM1-002	KNOWN	basic|CCDS	protein_coding	FOXM1	HGNC	protein_coding	OTTHUMT00000398272.1	G	NM_021953		2983505	-1	no_errors	ENST00000342628	ensembl	human	known	70_37	missense	SNP	0.980	C
FSCN1	6624	genome.wustl.edu	37	7	5642988	5642988	+	Silent	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr7:5642988G>A	ENST00000382361.3	+	2	1047	c.933G>A	c.(931-933)acG>acA	p.T311T	FSCN1_ENST00000340250.6_Silent_p.T290T	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	311					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		GTACCCACACGGGCAAGTACT	0.642																																																	0													99.0	68.0	78.0					7																	5642988		2203	4300	6503	SO:0001819	synonymous_variant	6624			U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"""Fascins"""	11148	protein-coding gene	gene with protein product	"""Singed, drosophila, homolog-like"", ""actin bundling protein"""	602689	"""singed (Drosophila)-like (sea urchin fascin homolog like)"", ""fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"""	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.933G>A	7.37:g.5642988G>A			A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Silent	SNP	pfam_Fascin-domain,superfamily_Actin_cross-linking	p.T311	ENST00000382361.3	37	c.933	CCDS5342.1	7																																																																																			FSCN1	-	pfam_Fascin-domain,superfamily_Actin_cross-linking		0.642	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCN1	HGNC	protein_coding	OTTHUMT00000207153.3	G	NM_003088		5642988	+1	no_errors	ENST00000382361	ensembl	human	known	70_37	silent	SNP	0.999	A
GBX2	2637	genome.wustl.edu	37	2	237076492	237076492	+	Silent	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr2:237076492G>A	ENST00000306318.4	-	1	520	c.123C>T	c.(121-123)taC>taT	p.Y41Y	AC079135.1_ENST00000483218.1_RNA|GBX2_ENST00000551105.1_Silent_p.Y41Y|AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000465889.1_5'Flank	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	41					autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GGTAGCCGGTGTAGACGAAAT	0.726																																																	0													7.0	8.0	8.0					2																	237076492		2127	4184	6311	SO:0001819	synonymous_variant	2637			AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"""Homeoboxes / ANTP class : HOXL subclass"""	4186	protein-coding gene	gene with protein product		601135	"""gastrulation brain homeo box 2"""			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.123C>T	2.37:g.237076492G>A			B2RPH7|O43833|Q53RX5|Q9Y5Y1	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.Y41	ENST00000306318.4	37	c.123	CCDS2515.1	2																																																																																			GBX2	-	NULL		0.726	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBX2	HGNC	protein_coding	OTTHUMT00000257078.3	G	NM_001485		237076492	-1	no_errors	ENST00000306318	ensembl	human	known	70_37	silent	SNP	1.000	A
GCN1L1	10985	genome.wustl.edu	37	12	120600928	120600928	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr12:120600928C>T	ENST00000300648.6	-	19	1996	c.1984G>A	c.(1984-1986)Gac>Aac	p.D662N		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	662					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGTTCAGTGTCGGTGACATCA	0.607																																																	0													96.0	98.0	97.0					12																	120600928		2116	4224	6340	SO:0001583	missense	10985			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1984G>A	12.37:g.120600928C>T	ENSP00000300648:p.Asp662Asn		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.D662N	ENST00000300648.6	37	c.1984	CCDS41847.1	12	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908918	0.33721	.	.	ENSG00000089154	ENST00000300648	T	0.05199	3.48	5.71	-0.727	0.11166	Domain of unknown function DUF3554 (1);Armadillo-type fold (1);	0.440664	0.27147	N	0.020719	T	0.04227	0.0117	L	0.27053	0.805	0.22648	N	0.998892	B	0.13145	0.007	B	0.10450	0.005	T	0.44682	-0.9312	10	0.16420	T	0.52	.	11.333	0.49487	0.0:0.7327:0.0:0.2673	.	662	Q92616	GCN1L_HUMAN	N	662	ENSP00000300648:D662N	ENSP00000300648:D662N	D	-	1	0	GCN1L1	119085311	0.993000	0.37304	0.003000	0.11579	0.807000	0.45602	2.820000	0.48057	-0.085000	0.12573	-0.140000	0.14226	GAC	GCN1L1	-	pfam_DUF3554,superfamily_ARM-type_fold		0.607	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	HGNC	protein_coding	OTTHUMT00000403592.1	C			120600928	-1	no_errors	ENST00000300648	ensembl	human	known	70_37	missense	SNP	0.695	T
GPR142	350383	genome.wustl.edu	37	17	72368270	72368270	+	Missense_Mutation	SNP	G	G	C	rs202167160	byFrequency	TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr17:72368270G>C	ENST00000335666.4	+	4	968	c.920G>C	c.(919-921)aGa>aCa	p.R307T		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	307						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GACTCACCCAGAACACTGGAC	0.597																																																	0													153.0	114.0	127.0					17																	72368270		2203	4300	6503	SO:0001583	missense	350383			AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.920G>C	17.37:g.72368270G>C	ENSP00000335158:p.Arg307Thr		A4CYJ8|Q86SL3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R307T	ENST00000335666.4	37	c.920	CCDS11698.1	17	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.376096	0.01214	.	.	ENSG00000257008	ENST00000335666	T	0.71341	-0.56	4.62	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.208121	0.49916	D	0.000125	T	0.34279	0.0892	N	0.01048	-1.04	0.18873	N	0.999982	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24012	-1.0172	10	0.10111	T	0.7	-24.3051	8.4255	0.32727	0.0902:0.2068:0.703:0.0	.	307;1269	Q7Z601;Q8NGB0	GP142_HUMAN;.	T	307	ENSP00000335158:R307T	ENSP00000335158:R307T	R	+	2	0	GPR142	69879865	0.519000	0.26242	0.913000	0.36048	0.017000	0.09413	2.631000	0.46502	2.524000	0.85096	0.556000	0.70494	AGA	GPR142	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.597	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR142	HGNC	protein_coding	OTTHUMT00000442545.1	G	NM_181790		72368270	+1	no_errors	ENST00000335666	ensembl	human	known	70_37	missense	SNP	0.841	C
GPR149	344758	genome.wustl.edu	37	3	154139158	154139158	+	Missense_Mutation	SNP	C	C	T	rs566323770		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr3:154139158C>T	ENST00000389740.2	-	3	1392	c.1293G>A	c.(1291-1293)atG>atA	p.M431I		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	431					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ACTCAGAGTTCATCAGGTTGT	0.358																																																	0													131.0	123.0	125.0					3																	154139158		1856	4103	5959	SO:0001583	missense	344758			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1293G>A	3.37:g.154139158C>T	ENSP00000374390:p.Met431Ile			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.M431I	ENST00000389740.2	37	c.1293	CCDS43162.1	3	.	.	.	.	.	.	.	.	.	.	C	9.351	1.065545	0.20067	.	.	ENSG00000174948	ENST00000389740	.	.	.	4.8	3.85	0.44370	.	0.364441	0.35525	N	0.003144	T	0.28466	0.0704	L	0.35414	1.06	0.21325	N	0.999726	B	0.06786	0.001	B	0.04013	0.001	T	0.07986	-1.0744	9	0.21014	T	0.42	-4.8095	9.7492	0.40466	0.1563:0.6922:0.1514:0.0	.	431	Q86SP6	GP149_HUMAN	I	431	.	ENSP00000374390:M431I	M	-	3	0	GPR149	155621852	1.000000	0.71417	0.996000	0.52242	0.771000	0.43674	1.614000	0.36911	2.398000	0.81561	0.454000	0.30748	ATG	GPR149	-	NULL		0.358	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR149	HGNC	protein_coding	OTTHUMT00000353430.1	C	XM_293580		154139158	-1	no_errors	ENST00000389740	ensembl	human	known	70_37	missense	SNP	1.000	T
GRIN1	2902	genome.wustl.edu	37	9	140053108	140053108	+	Silent	SNP	C	C	T	rs138398771		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr9:140053108C>T	ENST00000371561.3	+	8	2246	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G	GRIN1_ENST00000315048.3_Silent_p.G383G|GRIN1_ENST00000371553.3_Silent_p.G404G|GRIN1_ENST00000371560.3_Silent_p.G404G|GRIN1_ENST00000350902.5_Silent_p.G383G|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Silent_p.G404G|GRIN1_ENST00000371559.4_Silent_p.G383G|GRIN1_ENST00000371555.4_Silent_p.G404G|GRIN1_ENST00000371550.4_Silent_p.G383G	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	383					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCTGGCCAGGCGGAGAGACAG	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		14458	0.0		0.0	False		,,,				2504	0.001				NSCLC(113;717 1653 2089 20474 37618)												0								C	,,,,	0,4406		0,0,2203	85.0	86.0	86.0		1149,1212,1212,1149,1149	-8.6	0.9	9	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GRIN1	NM_000832.6,NM_001185090.1,NM_001185091.1,NM_007327.3,NM_021569.3	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	383/886,404/944,404/907,383/939,383/902	140053108	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2902				CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.1149C>T	9.37:g.140053108C>T			A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G383	ENST00000371561.3	37	c.1149	CCDS7031.1	9																																																																																			GRIN1	-	NULL		0.627	GRIN1-002	KNOWN	basic|CCDS	protein_coding	GRIN1	HGNC	protein_coding	OTTHUMT00000055267.3	C	NM_007327		140053108	+1	no_errors	ENST00000371561	ensembl	human	known	70_37	silent	SNP	0.657	T
MROH2B	133558	genome.wustl.edu	37	5	41069835	41069835	+	Missense_Mutation	SNP	G	G	T	rs562749956		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr5:41069835G>T	ENST00000399564.4	-	2	498	c.48C>A	c.(46-48)aaC>aaA	p.N16K		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	16																	CAAGAGTGAGGTTAATATCCC	0.333																																																	0													66.0	64.0	65.0					5																	41069835		1830	4083	5913	SO:0001583	missense	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.48C>A	5.37:g.41069835G>T	ENSP00000382476:p.Asn16Lys		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.N16K	ENST00000399564.4	37	c.48	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739360	0.49045	.	.	ENSG00000171495	ENST00000399564	T	0.01192	5.2	6.16	2.51	0.30379	.	0.000000	0.56097	D	0.000038	T	0.01454	0.0047	N	0.14661	0.345	0.26539	N	0.974111	D	0.55605	0.972	P	0.53360	0.724	T	0.52503	-0.8567	10	0.48119	T	0.1	.	8.4533	0.32884	0.3037:0.0:0.6963:0.0	.	16	Q7Z745	HTRB2_HUMAN	K	16	ENSP00000382476:N16K	ENSP00000382476:N16K	N	-	3	2	HEATR7B2	41105592	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	0.378000	0.20569	0.192000	0.20272	-0.143000	0.13931	AAC	HEATR7B2	-	NULL		0.333	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	G	NM_173489		41069835	-1	no_errors	ENST00000399564	ensembl	human	known	70_37	missense	SNP	1.000	T
HERC2	8924	genome.wustl.edu	37	15	28437168	28437168	+	Missense_Mutation	SNP	T	T	C			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr15:28437168T>C	ENST00000261609.7	-	53	8498	c.8390A>G	c.(8389-8391)cAg>cGg	p.Q2797R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACGGGATGCCTGGTTCACGGA	0.597											OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													135.0	121.0	125.0					15																	28437168		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.8390A>G	15.37:g.28437168T>C	ENSP00000261609:p.Gln2797Arg	801		Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.Q2797R	ENST00000261609.7	37	c.8390	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	T	19.28	3.797688	0.70567	.	.	ENSG00000128731	ENST00000261609	T	0.63580	-0.05	5.51	5.51	0.81932	Anaphase-promoting complex, subunit 10/DOC domain (1);Galactose-binding domain-like (1);	0.057307	0.64402	D	0.000001	T	0.53722	0.1814	N	0.20574	0.59	0.80722	D	1	P;P	0.48589	0.912;0.884	B;P	0.46110	0.334;0.504	T	0.56571	-0.7957	10	0.41790	T	0.15	.	15.9236	0.79592	0.0:0.0:0.0:1.0	.	264;2797	A8KAQ8;O95714	.;HERC2_HUMAN	R	2797	ENSP00000261609:Q2797R	ENSP00000261609:Q2797R	Q	-	2	0	HERC2	26110763	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.949000	0.87791	2.219000	0.72066	0.472000	0.43445	CAG	HERC2	-	superfamily_Galactose-bd-like		0.597	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	T	NM_004667		28437168	-1	no_errors	ENST00000261609	ensembl	human	known	70_37	missense	SNP	1.000	C
HLCS	3141	genome.wustl.edu	37	21	38128952	38128952	+	Missense_Mutation	SNP	C	C	T	rs149399432		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr21:38128952C>T	ENST00000399120.1	-	11	3130	c.1900G>A	c.(1900-1902)Gat>Aat	p.D634N	HLCS_ENST00000336648.4_Missense_Mutation_p.D634N	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	634	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.		D -> N (in HLCS deficiency; dbSNP:rs149399432). {ECO:0000269|PubMed:12633764}.|D -> Y (in HLCS deficiency; 12% activity). {ECO:0000269|PubMed:11735028}.		biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	ATGAGATAATCGGCTCTTAAG	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		17685	0.0		0.0	False		,,,				2504	0.001																0			GRCh37	CM013743|CM032941	HLCS	M	rs149399432	C	ASN/ASP,ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	260.0	220.0	234.0		1900,1900,1900	4.7	0.0	21	dbSNP_134	234	0,8600		0,0,4300	no	missense,missense,missense	HLCS	NM_000411.6,NM_001242784.1,NM_001242785.1	23,23,23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	634/727,634/727,634/727	38128952	1,13005	2203	4300	6503	SO:0001583	missense	3141				CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1900G>A	21.37:g.38128952C>T	ENSP00000382071:p.Asp634Asn		B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase	p.D634N	ENST00000399120.1	37	c.1900	CCDS13647.1	21	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722099	0.48728	2.27E-4	0.0	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.96685	-4.09;-4.09	4.74	4.74	0.60224	.	0.188599	0.43416	D	0.000579	D	0.97670	0.9236	M	0.73962	2.25	0.30509	N	0.769575	D	0.89917	1.0	D	0.64144	0.922	D	0.96007	0.8998	10	0.62326	D	0.03	.	17.7435	0.88413	0.0:1.0:0.0:0.0	.	634	P50747	BPL1_HUMAN	N	634	ENSP00000382071:D634N;ENSP00000338387:D634N	ENSP00000338387:D634N	D	-	1	0	HLCS	37050822	0.996000	0.38824	0.021000	0.16686	0.061000	0.15899	4.089000	0.57685	2.163000	0.67991	0.561000	0.74099	GAT	HLCS	-	tigrfam_Biotin_CoA_COase_ligase		0.453	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HLCS	HGNC	protein_coding	OTTHUMT00000194687.2	C			38128952	-1	no_errors	ENST00000336648	ensembl	human	known	70_37	missense	SNP	0.318	T
HTATSF1	27336	genome.wustl.edu	37	X	135585077	135585077	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chrX:135585077G>C	ENST00000218364.4	+	5	885	c.711G>C	c.(709-711)aaG>aaC	p.K237N	HTATSF1_ENST00000535601.1_Missense_Mutation_p.K237N	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	237					regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AAGACTATAAGAAGAAGCTGT	0.323																																																	0													94.0	99.0	97.0					X																	135585077		2203	4300	6503	SO:0001583	missense	27336			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.711G>C	X.37:g.135585077G>C	ENSP00000218364:p.Lys237Asn		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K237N	ENST00000218364.4	37	c.711	CCDS14657.1	X	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509909	0.64522	.	.	ENSG00000102241	ENST00000535601;ENST00000448450;ENST00000218364;ENST00000415377	T;T	0.29917	1.55;1.55	5.5	5.5	0.81552	.	0.335564	0.36134	N	0.002765	T	0.51346	0.1669	M	0.72894	2.215	0.58432	D	0.999998	D	0.76494	0.999	D	0.64410	0.925	T	0.54925	-0.8220	10	0.87932	D	0	-11.8874	11.9664	0.53038	0.0814:0.0:0.9186:0.0	.	237	O43719	HTSF1_HUMAN	N	237	ENSP00000442699:K237N;ENSP00000218364:K237N	ENSP00000218364:K237N	K	+	3	2	HTATSF1	135412743	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.103000	0.57783	2.309000	0.77851	0.468000	0.43344	AAG	HTATSF1	-	NULL		0.323	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATSF1	HGNC	protein_coding	OTTHUMT00000058497.1	G	NM_014500		135585077	+1	no_errors	ENST00000218364	ensembl	human	known	70_37	missense	SNP	1.000	C
IDS	3423	genome.wustl.edu	37	X	148579754	148579754	+	Missense_Mutation	SNP	C	C	T	rs193302904		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chrX:148579754C>T	ENST00000340855.6	-	5	801	c.592G>A	c.(592-594)Gac>Aac	p.D198N	IDS_ENST00000422081.2_5'UTR|IDS_ENST00000490775.1_5'UTR|IDS_ENST00000541269.1_5'UTR|IDS_ENST00000370443.4_Missense_Mutation_p.D198N|IDS_ENST00000370441.4_Missense_Mutation_p.D198N	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	198			D -> G (in MPS2; mild form). {ECO:0000269|PubMed:9921913}.		carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTCTGTTTGTCAGGCAAGGTG	0.502																																																	0													133.0	106.0	115.0					X																	148579754		2203	4300	6503	SO:0001583	missense	3423			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.592G>A	X.37:g.148579754C>T	ENSP00000339801:p.Asp198Asn		D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.D198N	ENST00000340855.6	37	c.592	CCDS14685.1	X	.	.	.	.	.	.	.	.	.	.	C	33	5.230735	0.95207	.	.	ENSG00000010404	ENST00000340855;ENST00000370441;ENST00000370443	D;D;D	0.99150	-5.49;-5.49;-5.49	5.11	5.11	0.69529	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99302	0.9756	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99253	1.0888	10	0.87932	D	0	.	17.7676	0.88483	0.0:1.0:0.0:0.0	.	198;108;198	P22304-2;B4DGD7;P22304	.;.;IDS_HUMAN	N	198	ENSP00000339801:D198N;ENSP00000359470:D198N;ENSP00000359472:D198N	ENSP00000339801:D198N	D	-	1	0	IDS	148387659	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.263000	0.78421	2.127000	0.65507	0.523000	0.50628	GAC	IDS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.502	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDS	HGNC	protein_coding	OTTHUMT00000058677.3	C			148579754	-1	no_errors	ENST00000340855	ensembl	human	known	70_37	missense	SNP	1.000	T
IMPDH1	3614	genome.wustl.edu	37	7	128040436	128040436	+	Missense_Mutation	SNP	C	C	T	rs201071873		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr7:128040436C>T	ENST00000480861.1	-	5	544	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	IMPDH1_ENST00000348127.6_Missense_Mutation_p.R210Q|IMPDH1_ENST00000470772.1_Missense_Mutation_p.R160Q|IMPDH1_ENST00000496200.1_Missense_Mutation_p.R136Q|IMPDH1_ENST00000419067.2_Missense_Mutation_p.R213Q|IMPDH1_ENST00000378717.4_Missense_Mutation_p.R177Q|IMPDH1_ENST00000338791.6_Missense_Mutation_p.R246Q|IMPDH1_ENST00000354269.5_Missense_Mutation_p.R236Q|IMPDH1_ENST00000343214.4_Missense_Mutation_p.R136Q	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						GTCGATGTCTCGGGAGGTGAC	0.622																																																	0													36.0	31.0	32.0					7																	128040436		2203	4298	6501	SO:0001583	missense	3614				CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.467G>A	7.37:g.128040436C>T	ENSP00000420185:p.Arg156Gln			Missense_Mutation	SNP	pfam_IMP_DH_GMPRt,pfam_Cysta_beta_synth_core,pfam_2Npropane_dOase,pfam_FMN-dep_DH,smart_Cysta_beta_synth_core,tigrfam_IMP_DH	p.R246Q	ENST00000480861.1	37	c.737	CCDS55161.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.286863	0.95517	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861;ENST00000497868;ENST00000489263	D;D;D;D;D;D;D;D;D;D;D	0.94862	-3.54;-3.54;-3.54;-3.54;-3.54;-3.54;-3.54;-3.54;-3.54;-3.54;-3.54	5.15	5.15	0.70609	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.96861	0.8975	H	0.94964	3.605	0.58432	D	0.999998	P;B;B;P;P;P;P;B	0.49862	0.811;0.265;0.429;0.875;0.928;0.909;0.929;0.223	B;B;B;P;P;B;B;B	0.48921	0.358;0.377;0.377;0.499;0.595;0.353;0.426;0.259	D	0.97983	1.0350	10	0.87932	D	0	-2.3458	16.1423	0.81534	0.0:1.0:0.0:0.0	.	213;156;161;177;236;210;246;136	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	Q	213;246;136;236;177;210;136;160;156;177;152	ENSP00000399400:R213Q;ENSP00000345096:R246Q;ENSP00000420803:R136Q;ENSP00000346219:R236Q;ENSP00000367989:R177Q;ENSP00000265385:R210Q;ENSP00000342438:R136Q;ENSP00000417296:R160Q;ENSP00000420185:R156Q;ENSP00000419609:R177Q;ENSP00000418592:R152Q	ENSP00000345096:R246Q	R	-	2	0	IMPDH1	127827672	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.409000	0.81822	0.561000	0.74099	CGA	IMPDH1	-	pfam_IMP_DH_GMPRt,pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core,tigrfam_IMP_DH		0.622	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	IMPDH1	HGNC	protein_coding	OTTHUMT00000349462.1	C	NM_000883		128040436	-1	no_errors	ENST00000338791	ensembl	human	known	70_37	missense	SNP	1.000	T
INF2	64423	genome.wustl.edu	37	14	105179925	105179925	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr14:105179925C>T	ENST00000392634.4	+	20	3134	c.3022C>T	c.(3022-3024)Cca>Tca	p.P1008S	INF2_ENST00000330634.7_Missense_Mutation_p.P1008S	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1008					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CATGGATCCCCCAAGAGCCAC	0.652																																																	0													46.0	65.0	59.0					14																	105179925		2049	4195	6244	SO:0001583	missense	64423			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.3022C>T	14.37:g.105179925C>T	ENSP00000376410:p.Pro1008Ser		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_WH2_dom,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,pfscan_WH2_dom	p.P1008S	ENST00000392634.4	37	c.3022	CCDS9989.2	14	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565590	0.27915	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	T;T	0.78364	-1.17;-1.17	4.04	2.1	0.27182	.	.	.	.	.	T	0.58864	0.2152	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.13145	0.007;0.004	B;B	0.10450	0.005;0.002	T	0.42515	-0.9447	9	0.25106	T	0.35	.	4.7581	0.13093	0.1462:0.6078:0.1581:0.0879	.	1008;1008	Q27J81-2;Q27J81	.;INF2_HUMAN	S	1008	ENSP00000376406:P1008S;ENSP00000376410:P1008S	ENSP00000252527:P476S	P	+	1	0	INF2	104250970	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	0.256000	0.18351	0.765000	0.33221	0.462000	0.41574	CCA	INF2	-	NULL		0.652	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	HGNC	protein_coding	OTTHUMT00000074371.4	C	NM_022489		105179925	+1	no_errors	ENST00000392634	ensembl	human	known	70_37	missense	SNP	0.001	T
IRX1	79192	genome.wustl.edu	37	5	3599344	3599344	+	Silent	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr5:3599344G>A	ENST00000302006.3	+	2	334	c.282G>A	c.(280-282)tcG>tcA	p.S94S	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	94					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S94S(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTCAGGGCTCGCAGTATGAAC	0.607																																																	1	Substitution - coding silent(1)	large_intestine(1)											27.0	29.0	28.0					5																	3599344		2203	4299	6502	SO:0001819	synonymous_variant	79192			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.282G>A	5.37:g.3599344G>A			Q7Z2F8|Q8N312	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain	p.S94	ENST00000302006.3	37	c.282	CCDS34132.1	5																																																																																			IRX1	-	NULL		0.607	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX1	HGNC	protein_coding	OTTHUMT00000365546.1	G	NM_024337		3599344	+1	no_errors	ENST00000302006	ensembl	human	known	70_37	silent	SNP	0.030	A
JARID2	3720	genome.wustl.edu	37	6	15501191	15501191	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr6:15501191G>A	ENST00000341776.2	+	8	2243	c.1999G>A	c.(1999-2001)Ggc>Agc	p.G667S	JARID2_ENST00000397311.3_Missense_Mutation_p.G495S|JARID2_ENST00000541660.1_Missense_Mutation_p.G629S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	667	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGAGATGGGCGGCATGCAGCA	0.557																																																	0													102.0	107.0	105.0					6																	15501191		2203	4300	6503	SO:0001583	missense	3720			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1999G>A	6.37:g.15501191G>A	ENSP00000341280:p.Gly667Ser		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.G667S	ENST00000341776.2	37	c.1999	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.268210	0.95429	.	.	ENSG00000008083	ENST00000341776;ENST00000397311;ENST00000541660	D;D;D	0.87887	-2.31;-2.31;-2.31	5.15	5.15	0.70609	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.85682	D	0.000000	D	0.93390	0.7892	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94181	0.7432	10	0.87932	D	0	-12.4643	18.621	0.91321	0.0:0.0:1.0:0.0	.	629;667	F5H590;Q92833	.;JARD2_HUMAN	S	667;495;629	ENSP00000341280:G667S;ENSP00000380478:G495S;ENSP00000444623:G629S	ENSP00000341280:G667S	G	+	1	0	JARID2	15609170	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.624000	0.98398	2.396000	0.81511	0.561000	0.74099	GGC	JARID2	-	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd		0.557	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1	G	NM_004973		15501191	+1	no_errors	ENST00000341776	ensembl	human	known	70_37	missense	SNP	1.000	A
KCP	375616	genome.wustl.edu	37	7	128531841	128531841	+	RNA	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr7:128531841C>T	ENST00000476647.2	-	0	1696							Q6ZWJ8	KCP_HUMAN	kielin/chordin-like protein							extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)	4						AAGCTCTCGCCGTCCACAAAC	0.672																																																	0													52.0	57.0	55.0					7																	128531841		692	1591	2283			375616			AK122706		7q32.3	2009-11-06	2009-02-18	2009-02-18	ENSG00000135253	ENSG00000135253			17585	protein-coding gene	gene with protein product	"""kielin"""	609344	"""cysteine rich BMP regulator 2 (chordin-like)"""	CRIM2		15793581	Standard	NM_001135914		Approved	FLJ33365, NET67	uc011kor.2	Q6ZWJ8	OTTHUMG00000158363		7.37:g.128531841C>T			Q8NBE0	RNA	SNP	-	NULL	ENST00000476647.2	37	NULL		7																																																																																			KCP	-	-		0.672	KCP-006	KNOWN	basic	processed_transcript	KCP	HGNC	processed_transcript	OTTHUMT00000403051.1	C	NM_199349		128531841	-1	no_errors	ENST00000257704	ensembl	human	known	70_37	rna	SNP	0.945	T
KDM3A	55818	genome.wustl.edu	37	2	86718287	86718287	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr2:86718287C>G	ENST00000409556.1	+	26	4139	c.3774C>G	c.(3772-3774)atC>atG	p.I1258M	KDM3A_ENST00000542128.1_Missense_Mutation_p.I1206M|KDM3A_ENST00000409064.1_Missense_Mutation_p.I1258M|KDM3A_ENST00000312912.5_Missense_Mutation_p.I1258M			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1258	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						ATAGCTGCATCAAAGTGGCTG	0.353																																					NSCLC(96;1150 1523 6936 46253 49736)												0													138.0	137.0	137.0					2																	86718287		2203	4300	6503	SO:0001583	missense	55818			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.3774C>G	2.37:g.86718287C>G	ENSP00000386660:p.Ile1258Met		D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.I1258M	ENST00000409556.1	37	c.3774	CCDS1990.1	2	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118688	0.56505	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	4.89	4.0	0.46444	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.933302	0.08903	N	0.876954	T	0.82167	0.4978	M	0.77486	2.375	0.51482	D	0.999926	D;D	0.76494	0.999;0.997	D;D	0.97110	1.0;0.976	T	0.79569	-0.1749	10	0.72032	D	0.01	.	5.4694	0.16662	0.0:0.734:0.0:0.266	.	1206;1258	F5H070;Q9Y4C1	.;KDM3A_HUMAN	M	1258;1258;1258;1258;1206	ENSP00000386660:I1258M;ENSP00000323659:I1258M;ENSP00000386516:I1258M;ENSP00000438324:I1206M	ENSP00000323659:I1258M	I	+	3	3	KDM3A	86571798	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.877000	0.39598	2.427000	0.82271	0.655000	0.94253	ATC	KDM3A	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom		0.353	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	HGNC	protein_coding	OTTHUMT00000252522.2	C	NM_018433		86718287	+1	no_errors	ENST00000312912	ensembl	human	known	70_37	missense	SNP	1.000	G
CEP162	22832	genome.wustl.edu	37	6	84913752	84913752	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr6:84913752C>A	ENST00000403245.3	-	7	748	c.634G>T	c.(634-636)Gag>Tag	p.E212*	KIAA1009_ENST00000257766.4_Nonsense_Mutation_p.E136*	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GAAGGCATCTCTTCATCTTTA	0.308																																																	0													108.0	112.0	111.0					6																	84913752		2203	4299	6502	SO:0001587	stop_gained	22832																														ENST00000403245.3:c.634G>T	6.37:g.84913752C>A	ENSP00000385215:p.Glu212*			Nonsense_Mutation	SNP	NULL	p.E212*	ENST00000403245.3	37	c.634	CCDS34494.2	6	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913311	0.72983	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	.	.	.	5.5	4.64	0.57946	.	0.173907	0.40554	N	0.001063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-6.0055	11.3455	0.49559	0.0:0.9151:0.0:0.0849	.	.	.	.	X	136;212	.	ENSP00000257766:E136X	E	-	1	0	KIAA1009	84970471	1.000000	0.71417	0.995000	0.50966	0.091000	0.18340	2.497000	0.45354	1.324000	0.45282	-0.253000	0.11424	GAG	KIAA1009	-	NULL		0.308	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1009	HGNC	protein_coding	OTTHUMT00000317315.1	C			84913752	-1	no_errors	ENST00000403245	ensembl	human	known	70_37	nonsense	SNP	1.000	A
KIAA1211	57482	genome.wustl.edu	37	4	57180592	57180592	+	Frame_Shift_Del	DEL	T	T	-	rs386674634		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr4:57180592delT	ENST00000504228.1	+	6	1029	c.924delT	c.(922-924)cgtfs	p.R308fs	KIAA1211_ENST00000264229.6_Frame_Shift_Del_p.R308fs|KIAA1211_ENST00000541073.1_Frame_Shift_Del_p.R301fs			Q6ZU35	K1211_HUMAN	KIAA1211	308	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GGAGGGAGCGTGAGGAGCGCG	0.736																																																	0													5.0	7.0	6.0					4																	57180592		1903	3760	5663	SO:0001589	frameshift_variant	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.924delT	4.37:g.57180592delT	ENSP00000423366:p.Arg308fs		Q9NTE2|Q9NTP8|Q9ULK9	Frame_Shift_Del	DEL	NULL	p.E309fs	ENST00000504228.1	37	c.924	CCDS43230.1	4																																																																																			KIAA1211	-	NULL		0.736	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	T	NM_020722		57180592	+1	no_errors	ENST00000504228	ensembl	human	known	70_37	frame_shift_del	DEL	0.000	-
KIAA1211	57482	genome.wustl.edu	37	4	57180594	57180595	+	Frame_Shift_Ins	INS	-	-	G	rs386674634		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr4:57180594_57180595insG	ENST00000504228.1	+	6	1031_1032	c.926_927insG	c.(925-930)gaggagfs	p.E310fs	KIAA1211_ENST00000264229.6_Frame_Shift_Ins_p.E310fs|KIAA1211_ENST00000541073.1_Frame_Shift_Ins_p.E303fs			Q6ZU35	K1211_HUMAN	KIAA1211	310	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGGGAGCGTGAGGAGCGCGAGC	0.738																																																	0										304,3290		11,282,1504						1.2	0.0		dbSNP_130	7	660,6490		13,634,2928	no	frameshift	KIAA1211	NM_020722.1		24,916,4432	A1A1,A1R,RR		9.2308,8.4585,8.9724				964,9780				SO:0001589	frameshift_variant	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.928dupG	4.37:g.57180596_57180596dupG	ENSP00000423366:p.Glu310fs		Q9NTE2|Q9NTP8|Q9ULK9	Frame_Shift_Ins	INS	NULL	p.E310fs	ENST00000504228.1	37	c.926_927	CCDS43230.1	4																																																																																			KIAA1211	-	NULL		0.738	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	-	NM_020722		57180595	+1	no_errors	ENST00000504228	ensembl	human	known	70_37	frame_shift_ins	INS	0.011:0.002	G
KLHL13	90293	genome.wustl.edu	37	X	117162393	117162393	+	Missense_Mutation	SNP	C	C	T	rs373116325		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chrX:117162393C>T	ENST00000540167.1	-	2	425	c.44G>A	c.(43-45)cGt>cAt	p.R15H	KLHL13_ENST00000545703.1_Intron|KLHL13_ENST00000541812.1_Missense_Mutation_p.R15H|KLHL13_ENST00000371882.1_Intron	NM_001168302.1	NP_001161774.1	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	0					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ATACCGGTTACGAAGTATTGC	0.338																																																	0								C	HIS/ARG,HIS/ARG,	1,1208		0,1,516,175	147.0	111.0	122.0		44,44,	1.1	1.0	X		122	0,2391		0,0,800,791	no	missense,missense,intron	KLHL13	NM_001168301.1,NM_001168302.1,NM_001168303.1	29,29,	0,1,1316,966	TT,TC,CC,C		0.0,0.0827,0.0278	,,	15/640,15/640,	117162393	1,3599	692	1591	2283	SO:0001583	missense	90293			AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000540167.1:c.44G>A	X.37:g.117162393C>T	ENSP00000441029:p.Arg15His		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R15H	ENST00000540167.1	37	c.44	CCDS55481.1	X	.	.	.	.	.	.	.	.	.	.	C	9.657	1.143143	0.21205	8.27E-4	0.0	ENSG00000003096	ENST00000541812;ENST00000540167	T;T	0.69806	-0.43;-0.43	3.99	1.11	0.20524	.	.	.	.	.	T	0.38321	0.1036	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05517	-1.0880	8	.	.	.	.	5.6695	0.17715	0.0:0.5965:0.0:0.4035	.	15	Q9P2N7-3	.	H	15	ENSP00000444450:R15H;ENSP00000441029:R15H	.	R	-	2	0	KLHL13	117046421	0.997000	0.39634	0.996000	0.52242	0.900000	0.52787	0.041000	0.13927	0.089000	0.17243	-1.178000	0.01721	CGT	KLHL13	-	pirsf_Kelch-like_gigaxonin		0.338	KLHL13-203	KNOWN	basic|CCDS	protein_coding	KLHL13	HGNC	protein_coding		C	NM_033495		117162393	-1	no_errors	ENST00000540167	ensembl	human	known	70_37	missense	SNP	0.996	T
LAMA5	3911	genome.wustl.edu	37	20	60909651	60909651	+	Missense_Mutation	SNP	G	G	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr20:60909651G>T	ENST00000252999.3	-	21	2575	c.2509C>A	c.(2509-2511)Ctg>Atg	p.L837M	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	837	Laminin EGF-like 11; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CTCTGGCCCAGTGCACCGCCA	0.701																																																	0													5.0	5.0	5.0					20																	60909651		1879	3617	5496	SO:0001583	missense	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.2509C>A	20.37:g.60909651G>T	ENSP00000252999:p.Leu837Met		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.L837M	ENST00000252999.3	37	c.2509	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	g	11.93	1.784914	0.31593	.	.	ENSG00000130702	ENST00000252999	T	0.56941	0.43	4.79	4.79	0.61399	EGF-like, laminin (3);	0.452591	0.22239	N	0.062705	T	0.69187	0.3083	M	0.81802	2.56	0.54753	D	0.999981	D	0.69078	0.997	D	0.68621	0.959	T	0.67217	-0.5726	10	0.22109	T	0.4	.	11.776	0.51985	0.0:0.0:0.6917:0.3083	.	837	O15230	LAMA5_HUMAN	M	837	ENSP00000252999:L837M	ENSP00000252999:L837M	L	-	1	2	LAMA5	60343046	0.011000	0.17503	0.819000	0.32651	0.009000	0.06853	1.161000	0.31773	2.206000	0.71126	0.556000	0.70494	CTG	LAMA5	-	pfam_EGF_laminin,smart_EGF_laminin		0.701	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	G	NM_005560		60909651	-1	no_errors	ENST00000252999	ensembl	human	known	70_37	missense	SNP	0.642	T
LILRA3	11026	genome.wustl.edu	37	19	54802507	54802507	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr19:54802507C>T	ENST00000251390.3	-	5	1025	c.934G>A	c.(934-936)Gac>Aac	p.D312N	LILRA3_ENST00000391745.1_Missense_Mutation_p.D329N|LILRA3_ENST00000391744.3_Missense_Mutation_p.D248N	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	312	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCAGGGGGTCGCTGGGGGCC	0.672																																																	0													24.0	28.0	27.0					19																	54802507		2190	4163	6353	SO:0001583	missense	11026			U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.934G>A	19.37:g.54802507C>T	ENSP00000251390:p.Asp312Asn		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.D312N	ENST00000251390.3	37	c.934	CCDS12887.1	19	.	.	.	.	.	.	.	.	.	.	c	13.29	2.192935	0.38707	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.00873	5.59;5.59;5.59	2.21	-1.41	0.08941	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.846370	0.03220	N	0.177389	T	0.05273	0.0140	M	0.83312	2.635	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.974;0.996	T	0.28364	-1.0046	10	0.59425	D	0.04	.	5.2061	0.15291	0.0:0.5322:0.0:0.4678	.	312;312	E7EU74;Q8N6C8	.;LIRA3_HUMAN	N	312;248;329	ENSP00000251390:D312N;ENSP00000375624:D248N;ENSP00000375625:D329N	ENSP00000251390:D312N	D	-	1	0	LILRA3	59494319	0.001000	0.12720	0.031000	0.17742	0.028000	0.11728	0.127000	0.15790	-0.192000	0.10432	-0.192000	0.12808	GAC	LILRA3	-	smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like		0.672	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA3	HGNC	protein_coding	OTTHUMT00000140236.1	C			54802507	-1	no_errors	ENST00000251390	ensembl	human	known	70_37	missense	SNP	0.038	T
LOC100128164	100128164	genome.wustl.edu	37	3	169664440	169664440	+	RNA	SNP	C	C	G			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr3:169664440C>G	ENST00000487580.1	-	0	263				RP11-379K17.4_ENST00000600502.1_RNA|RP11-379K17.4_ENST00000483289.2_RNA																							CAGAACCTGTCAAAGCATTTC	0.522																																																	0																																												100128164																															3.37:g.169664440C>G				RNA	SNP	-	NULL	ENST00000487580.1	37	NULL		3																																																																																			RP11-379K17.4	-	-		0.522	RP11-379K17.4-003	KNOWN	basic|exp_conf	antisense	LOC100128164	Clone_based_vega_gene	antisense	OTTHUMT00000351957.1	C			169664440	-1	no_errors	ENST00000483289	ensembl	human	known	70_37	rna	SNP	1.000	G
GAPDHS	26330	genome.wustl.edu	37	19	36035943	36035944	+	Intron	DNP	GG	GG	AA			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr19:36035943_36035944GG>AA	ENST00000222286.4	+	10	1270				TMEM147_ENST00000222284.5_5'Flank|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000589137.1_RNA|TMEM147_ENST00000392204.2_5'Flank|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000590717.1_RNA|TMEM147_ENST00000392205.1_5'Flank	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic						carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TAGAGGGAGGGGAACTAAGGGG	0.559																																																	0																																										SO:0001627	intron_variant	100506469			AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		Exception_encountered	19.37:g.36035943_36035944delinsAA			B2RC82|O60823|Q6JTT9|Q9HCU6	RNA	SNP	-	NULL	ENST00000222286.4	37	NULL	CCDS12465.1	19																																																																																			AD000090.2	-	-		0.559	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100506469	Clone_based_vega_gene	protein_coding	OTTHUMT00000460423.1	G	NM_014364		36035943|36035944	-1	no_errors	ENST00000588286	ensembl	human	known	70_37	rna	SNP	0.001|0.000	A
RP11-146E13.4	0	genome.wustl.edu	37	14	19856372	19856372	+	lincRNA	SNP	A	A	G			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr14:19856372A>G	ENST00000548109.1	+	0	72																											TATACGTGGGAAAAAAAAAAG	0.358																																																	0																																												101060483																															14.37:g.19856372A>G				RNA	SNP	-	NULL	ENST00000548109.1	37	NULL		14																																																																																			CTD-2314B22.3	-	-		0.358	RP11-146E13.4-001	KNOWN	basic	lincRNA	LOC101060483	Clone_based_vega_gene	lincRNA	OTTHUMT00000409408.1	A			19856372	-1	no_errors	ENST00000551334	ensembl	human	known	70_37	rna	SNP	0.001	G
LPHN3	23284	genome.wustl.edu	37	4	62599062	62599062	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr4:62599062G>A	ENST00000514591.1	+	7	1314	c.985G>A	c.(985-987)Gat>Aat	p.D329N	LPHN3_ENST00000545650.1_Missense_Mutation_p.D329N|LPHN3_ENST00000509896.1_Missense_Mutation_p.D397N|LPHN3_ENST00000514157.1_Missense_Mutation_p.D329N|LPHN3_ENST00000508946.1_Missense_Mutation_p.D329N|LPHN3_ENST00000507164.1_Missense_Mutation_p.D397N|LPHN3_ENST00000508693.1_Missense_Mutation_p.D397N|LPHN3_ENST00000506700.1_Missense_Mutation_p.D329N|LPHN3_ENST00000507625.1_Missense_Mutation_p.D397N|LPHN3_ENST00000511324.1_Missense_Mutation_p.D397N|LPHN3_ENST00000512091.2_Missense_Mutation_p.D329N|LPHN3_ENST00000506746.1_Missense_Mutation_p.D397N|LPHN3_ENST00000506720.1_Missense_Mutation_p.D397N|LPHN3_ENST00000504896.1_Missense_Mutation_p.D329N|LPHN3_ENST00000514996.1_Missense_Mutation_p.D329N			Q9HAR2	LPHN3_HUMAN	latrophilin 3	329	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGTATATGAGGATGATGACAA	0.388																																																	0													114.0	102.0	106.0					4																	62599062		1938	4140	6078	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.985G>A	4.37:g.62599062G>A	ENSP00000422533:p.Asp329Asn		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.D397N	ENST00000514591.1	37	c.1189	CCDS54768.1	4	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246265	0.80024	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13;-3.13	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.95749	0.8617	M	0.69823	2.125	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.996	D;D;D	0.85130	0.997;0.997;0.987	D	0.96133	0.9094	10	0.87932	D	0	.	17.9471	0.89042	0.0:0.0:1.0:0.0	.	329;397;329	E9PE04;E7EN28;Q9HAR2-2	.;.;.	N	329;329;397;397;329;329;329;329;329;397;397;397;329;329;329;397;397;329	ENSP00000423388:D329N;ENSP00000422533:D329N;ENSP00000423787:D397N;ENSP00000425033:D397N;ENSP00000424120:D329N;ENSP00000439831:D329N;ENSP00000421476:D397N;ENSP00000424030:D397N;ENSP00000421372:D397N;ENSP00000425201:D329N;ENSP00000423434:D329N;ENSP00000421627:D329N;ENSP00000420931:D397N;ENSP00000425884:D397N;ENSP00000424258:D329N	ENSP00000280009:D329N	D	+	1	0	LPHN3	62281657	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.471000	0.83476	0.557000	0.71058	GAT	LPHN3	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like		0.388	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	G			62599062	+1	no_errors	ENST00000507625	ensembl	human	known	70_37	missense	SNP	1.000	A
MAGEB1	4112	genome.wustl.edu	37	X	30269339	30269339	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chrX:30269339G>C	ENST00000378981.3	+	4	1050	c.729G>C	c.(727-729)aaG>aaC	p.K243N	MAGEB1_ENST00000397550.1_Missense_Mutation_p.K243N|MAGEB1_ENST00000397548.2_Missense_Mutation_p.K243N	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	243	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						AACCCCGTAAGTTCATCACCC	0.498																																																	0													78.0	68.0	71.0					X																	30269339		2202	4300	6502	SO:0001583	missense	4112				CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.729G>C	X.37:g.30269339G>C	ENSP00000368264:p.Lys243Asn		B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.K243N	ENST00000378981.3	37	c.729	CCDS14222.1	X	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447211	0.25987	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.06142	3.34;3.34;3.34	3.99	1.13	0.20643	.	0.111215	0.64402	D	0.000014	T	0.21227	0.0511	M	0.88031	2.925	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.11567	-1.0582	10	0.62326	D	0.03	.	1.9545	0.03373	0.118:0.1976:0.4775:0.2069	.	243	P43366	MAGB1_HUMAN	N	243	ENSP00000368264:K243N;ENSP00000380683:K243N;ENSP00000380681:K243N	ENSP00000368264:K243N	K	+	3	2	MAGEB1	30179260	0.030000	0.19436	0.008000	0.14137	0.263000	0.26337	-0.030000	0.12308	0.100000	0.17581	0.600000	0.82982	AAG	MAGEB1	-	pfam_MAGE,pfscan_MAGE		0.498	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB1	HGNC	protein_coding	OTTHUMT00000056160.1	G	NM_002363		30269339	+1	no_errors	ENST00000378981	ensembl	human	known	70_37	missense	SNP	0.007	C
MAGEC3	139081	genome.wustl.edu	37	X	140984701	140984701	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chrX:140984701C>T	ENST00000298296.1	+	7	1157	c.1157C>T	c.(1156-1158)cCt>cTt	p.P386L	MAGEC3_ENST00000443323.2_Missense_Mutation_p.P8L|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_Missense_Mutation_p.P88L|MAGEC3_ENST00000536088.1_Missense_Mutation_p.P88L|MAGEC3_ENST00000409007.1_Missense_Mutation_p.P88L	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	386	Pro-rich.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGGATGCCACCTCTTCCCCAG	0.577																																																	0													55.0	44.0	48.0					X																	140984701		2177	4257	6434	SO:0001583	missense	139081			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1157C>T	X.37:g.140984701C>T	ENSP00000298296:p.Pro386Leu		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.P386L	ENST00000298296.1	37	c.1157	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	c	7.528	0.658103	0.14645	.	.	ENSG00000165509	ENST00000298296;ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T;T;T;T;T	0.03496	4.12;3.92;3.91;3.92;3.92	0.524	-0.728	0.11162	.	.	.	.	.	T	0.01421	0.0046	N	0.08118	0	0.09310	N	1	P;P	0.51933	0.86;0.949	B;B	0.38616	0.206;0.277	T	0.37009	-0.9724	8	0.08381	T	0.77	.	.	.	.	.	386;88	Q8TD91;Q3SYA7	MAGC3_HUMAN;.	L	386;88;8;88;88	ENSP00000298296:P386L;ENSP00000441107:P88L;ENSP00000438254:P8L;ENSP00000440444:P88L;ENSP00000386566:P88L	ENSP00000298296:P386L	P	+	2	0	MAGEC3	140812367	0.001000	0.12720	0.003000	0.11579	0.077000	0.17291	-0.335000	0.07873	-0.473000	0.06871	-0.893000	0.02921	CCT	MAGEC3	-	NULL		0.577	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	C	NM_138702		140984701	+1	no_errors	ENST00000298296	ensembl	human	known	70_37	missense	SNP	0.003	T
MAGEC1	9947	genome.wustl.edu	37	X	140993233	140993234	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chrX:140993233_140993234insA	ENST00000285879.4	+	4	329_330	c.43_44insA	c.(43-45)ctcfs	p.L15fs	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	15										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GCCGAGTCTTCTCCAGAGTTCC	0.559										HNSCC(15;0.026)																																							0																																										SO:0001589	frameshift_variant	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	Exception_encountered	X.37:g.140993233_140993234insA	ENSP00000285879:p.Leu15fs		A0PK03|O75451|Q8TCV4	Frame_Shift_Ins	INS	pfam_MAGE,pfscan_MAGE	p.L15fs	ENST00000285879.4	37	c.43_44	CCDS35417.1	X																																																																																			MAGEC1	-	NULL		0.559	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	-	NM_005462		140993234	+1	no_errors	ENST00000285879	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.001	A
MAGEA9B	728269	genome.wustl.edu	37	X	148664667	148664667	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chrX:148664667G>A	ENST00000243314.5	-	4	455	c.169C>T	c.(169-171)Cct>Tct	p.P57S		NM_001080790.1	NP_001074259.1	P43362	MAGA9_HUMAN	melanoma antigen family A, 9B	57																	CTCTGGGGAGGACTTGATGAC	0.577																																																	0													2.0	2.0	2.0					X																	148664667		465	1229	1694	SO:0001583	missense	728269				CCDS35423.1	Xp11	2014-05-06			ENSG00000123584	ENSG00000123584			31909	protein-coding gene	gene with protein product		300764					Standard	NM_001080790		Approved		uc004fdk.3	P43362	OTTHUMG00000188533	ENST00000243314.5:c.169C>T	X.37:g.148664667G>A	ENSP00000243314:p.Pro57Ser		A8K8A7|Q7Z5K4|Q92910	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.P57S	ENST00000243314.5	37	c.169	CCDS35423.1	X	.	.	.	.	.	.	.	.	.	.	G	11.79	1.744982	0.30865	.	.	ENSG00000123584	ENST00000243314	T	0.04917	3.53	2.98	-2.85	0.05734	Melanoma associated antigen, MAGE, N-terminal (1);	0.882556	0.09427	N	0.803589	T	0.11367	0.0277	M	0.69185	2.1	0.09310	N	1	P	0.52692	0.955	P	0.54100	0.742	T	0.12941	-1.0528	10	0.33940	T	0.23	.	3.7176	0.08444	0.3492:0.3946:0.2562:0.0	.	57	P43362	MAGA9_HUMAN	S	57	ENSP00000243314:P57S	ENSP00000243314:P57S	P	-	1	0	MAGEA9B	148472463	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.437000	0.02419	-0.686000	0.05170	0.472000	0.43445	CCT	MAGEA9B	-	pfam_Melanoma_ass_antigen_N		0.577	MAGEA9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA9B	HGNC	protein_coding	OTTHUMT00000058697.4	G	NM_001080790		148664667	-1	no_errors	ENST00000243314	ensembl	human	known	70_37	missense	SNP	0.000	A
MAP4	4134	genome.wustl.edu	37	3	47958076	47958076	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr3:47958076G>A	ENST00000360240.6	-	7	1759	c.1241C>T	c.(1240-1242)tCa>tTa	p.S414L	MAP4_ENST00000395734.3_Missense_Mutation_p.S414L|MAP4_ENST00000426837.2_Missense_Mutation_p.S431L|MAP4_ENST00000383737.4_Intron	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	414	17 X 14 AA tandem repeats.				cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	CTCTATTTCTGAGAGTAATAC	0.468																																																	0													136.0	126.0	129.0					3																	47958076		2203	4300	6503	SO:0001583	missense	4134				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1241C>T	3.37:g.47958076G>A	ENSP00000353375:p.Ser414Leu		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	pfam_Tau/MAP_tubulin-bd_rpt	p.S414L	ENST00000360240.6	37	c.1241	CCDS33750.1	3	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931160	0.52866	.	.	ENSG00000047849	ENST00000395734;ENST00000426837;ENST00000360240	T;T;T	0.08370	3.16;3.1;3.16	4.73	4.73	0.59995	.	.	.	.	.	T	0.27454	0.0674	M	0.68952	2.095	0.43745	D	0.996244	D;P;D	0.89917	1.0;0.897;0.983	D;P;P	0.85130	0.997;0.518;0.656	T	0.00567	-1.1667	9	0.72032	D	0.01	-1.0926	15.5879	0.76499	0.0:0.0:1.0:0.0	.	391;414;414	C9JFC3;P27816-6;P27816	.;.;MAP4_HUMAN	L	414;431;414	ENSP00000379083:S414L;ENSP00000407602:S431L;ENSP00000353375:S414L	ENSP00000353375:S414L	S	-	2	0	MAP4	47933080	0.589000	0.26807	0.333000	0.25482	0.047000	0.14425	1.909000	0.39917	2.607000	0.88179	0.561000	0.74099	TCA	MAP4	-	NULL		0.468	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP4	HGNC	protein_coding	OTTHUMT00000346085.1	G	NM_002375		47958076	-1	no_errors	ENST00000360240	ensembl	human	known	70_37	missense	SNP	0.153	A
MAPK12	6300	genome.wustl.edu	37	22	50694089	50694089	+	Silent	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr22:50694089C>T	ENST00000215659.8	-	9	1041	c.726G>A	c.(724-726)acG>acA	p.T242T	MAPK12_ENST00000395780.1_Silent_p.T152T|MAPK12_ENST00000497036.1_5'UTR	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	242	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle arrest (GO:0007050)|DNA damage induced protein phosphorylation (GO:0006975)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of peptidase activity (GO:0010952)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAGGCGTCCCCGTCACCTTCA	0.672																																																	0													72.0	77.0	76.0					22																	50694089		2202	4300	6502	SO:0001819	synonymous_variant	6300			U66243	CCDS14089.1	22q13.3	2012-05-08			ENSG00000188130	ENSG00000188130	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6874	protein-coding gene	gene with protein product		602399		SAPK3		9169156	Standard	NM_002969		Approved	ERK6, PRKM12, p38gamma, SAPK-3	uc003bkm.1	P53778	OTTHUMG00000030145	ENST00000215659.8:c.726G>A	22.37:g.50694089C>T			Q14260|Q6IC53|Q99588|Q99672	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_p38	p.T242	ENST00000215659.8	37	c.726	CCDS14089.1	22																																																																																			MAPK12	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.672	MAPK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK12	HGNC	protein_coding	OTTHUMT00000074999.2	C	NM_002969		50694089	-1	no_errors	ENST00000215659	ensembl	human	known	70_37	silent	SNP	0.296	T
MAPK6	5597	genome.wustl.edu	37	15	52356491	52356491	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr15:52356491C>T	ENST00000261845.5	+	6	2267	c.1460C>T	c.(1459-1461)tCt>tTt	p.S487F	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	487					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)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		AAAGAAAAATCTGATAAGAAA	0.368																																																	0													30.0	30.0	30.0					15																	52356491		2194	4290	6484	SO:0001583	missense	5597			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.1460C>T	15.37:g.52356491C>T	ENSP00000261845:p.Ser487Phe		B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_ERK3/4,pfscan_Prot_kinase_cat_dom	p.S487F	ENST00000261845.5	37	c.1460	CCDS10147.1	15	.	.	.	.	.	.	.	.	.	.	C	9.286	1.049470	0.19827	.	.	ENSG00000069956	ENST00000261845	T	0.43688	0.94	5.41	4.48	0.54585	.	0.286026	0.41194	D	0.000937	T	0.23014	0.0556	N	0.03608	-0.345	0.41414	D	0.98775	B	0.02656	0.0	B	0.01281	0.0	T	0.10730	-1.0617	10	0.72032	D	0.01	-1.8582	14.6771	0.68989	0.0:0.9288:0.0:0.0712	.	487	Q16659	MK06_HUMAN	F	487	ENSP00000261845:S487F	ENSP00000261845:S487F	S	+	2	0	MAPK6	50143783	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	2.926000	0.48892	2.606000	0.88127	0.638000	0.83543	TCT	MAPK6	-	NULL		0.368	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK6	HGNC	protein_coding	OTTHUMT00000254841.2	C	NM_002748		52356491	+1	no_errors	ENST00000261845	ensembl	human	known	70_37	missense	SNP	1.000	T
MED12L	116931	genome.wustl.edu	37	3	150883767	150883767	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr3:150883767G>C	ENST00000474524.1	+	10	1530	c.1492G>C	c.(1492-1494)Gag>Cag	p.E498Q	MED12L_ENST00000309237.4_Missense_Mutation_p.E498Q|MED12L_ENST00000273432.4_Missense_Mutation_p.E358Q|MED12L_ENST00000422248.2_Missense_Mutation_p.E498Q	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	498						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGATAACCAAGAGGTAGTTAA	0.333																																																	0													70.0	69.0	69.0					3																	150883767		2203	4300	6503	SO:0001583	missense	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1492G>C	3.37:g.150883767G>C	ENSP00000417235:p.Glu498Gln		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.E498Q	ENST00000474524.1	37	c.1492	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171924	0.78452	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.69	5.69	0.88448	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.128450	0.56097	D	0.000035	T	0.60843	0.2300	M	0.81239	2.535	0.54753	D	0.999988	P;D;D;P	0.69078	0.729;0.997;0.996;0.873	B;D;D;B	0.81914	0.32;0.995;0.991;0.385	T	0.64351	-0.6428	10	0.87932	D	0	-28.5046	19.4185	0.94710	0.0:0.0:1.0:0.0	.	358;498;498;498	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	Q	498;498;498;358	ENSP00000403308:E498Q;ENSP00000310760:E498Q;ENSP00000417235:E498Q;ENSP00000273432:E358Q	ENSP00000273432:E358Q	E	+	1	0	MED12L	152366457	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.625000	0.90965	2.674000	0.91012	0.650000	0.86243	GAG	MED12L	-	pfam_Mediator_Med12_LCEWAV		0.333	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	G	NM_053002		150883767	+1	no_errors	ENST00000474524	ensembl	human	known	70_37	missense	SNP	1.000	C
MUC5B	727897	genome.wustl.edu	37	11	1281216	1281216	+	Silent	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr11:1281216C>T	ENST00000529681.1	+	46	16882	c.16824C>T	c.(16822-16824)agC>agT	p.S5608S	MUC5B_ENST00000447027.1_Silent_p.S5611S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5608					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGTCAACAGCCATGTGGACA	0.572																																																	0													147.0	157.0	154.0					11																	1281216		2100	4236	6336	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.16824C>T	11.37:g.1281216C>T			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.S5611	ENST00000529681.1	37	c.16833	CCDS44515.2	11																																																																																			MUC5B	-	NULL		0.572	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1281216	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	silent	SNP	0.028	T
MS4A15	219995	genome.wustl.edu	37	11	60541372	60541372	+	Silent	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr11:60541372G>A	ENST00000405633.3	+	6	640	c.561G>A	c.(559-561)gcG>gcA	p.A187A	MS4A15_ENST00000528170.1_Silent_p.A146A|MS4A15_ENST00000337911.4_Silent_p.A94A	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	187						integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(3)	6						TCTTCACAGCGGTCATTGCCA	0.587																																																	0													218.0	173.0	188.0					11																	60541372		2203	4300	6503	SO:0001819	synonymous_variant	219995			AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		ENST00000405633.3:c.561G>A	11.37:g.60541372G>A			A9UJY6|A9UJY7|F2Z2J5	Silent	SNP	pfam_CD20-like	p.A187	ENST00000405633.3	37	c.561	CCDS44617.1	11																																																																																			MS4A15	-	NULL		0.587	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MS4A15	HGNC	protein_coding	OTTHUMT00000395618.1	G			60541372	+1	no_errors	ENST00000405633	ensembl	human	known	70_37	silent	SNP	0.040	A
MXRA5	25878	genome.wustl.edu	37	X	3238158	3238158	+	Silent	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chrX:3238158G>A	ENST00000217939.6	-	5	5722	c.5568C>T	c.(5566-5568)ctC>ctT	p.L1856L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1856	Ig-like C2-type 3.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGGACTTGGTGAGGATTTGTG	0.522																																																	0													96.0	82.0	87.0					X																	3238158		2203	4300	6503	SO:0001819	synonymous_variant	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5568C>T	X.37:g.3238158G>A			Q6P1M7|Q9Y3Y8	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L1856	ENST00000217939.6	37	c.5568	CCDS14124.1	X																																																																																			MXRA5	-	pfscan_Ig-like		0.522	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	G	NM_015419		3238158	-1	no_errors	ENST00000217939	ensembl	human	known	70_37	silent	SNP	0.792	A
Unknown	0	genome.wustl.edu	37	1	144618251	144618251	+	IGR	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr1:144618251G>A								RP11-640M9.2 (12360 upstream) : NBPF9 (193492 downstream)																							ACAGCTGGCTGAGGGGTGTAG	0.587																																																	0													2.0	2.0	2.0					1																	144618251		594	1330	1924	SO:0001628	intergenic_variant	728841																															1.37:g.144618251G>A				RNA	SNP	-	NULL		37	NULL		1																																																																																			NBPF8	-	-	0	0.587					NBPF8	HGNC			G			144618251	+1	no_errors	ENST00000421407	ensembl	human	known	70_37	rna	SNP	0.059	A
NHS	4810	genome.wustl.edu	37	X	17744357	17744357	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chrX:17744357G>A	ENST00000380060.3	+	6	2406	c.2068G>A	c.(2068-2070)Gat>Aat	p.D690N	NHS_ENST00000398097.3_Missense_Mutation_p.D534N	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	711					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGACCTGCTGGATGATCCCAA	0.507																																																	0													171.0	158.0	162.0					X																	17744357		2203	4300	6503	SO:0001583	missense	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.2068G>A	X.37:g.17744357G>A	ENSP00000369400:p.Asp690Asn		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.D690N	ENST00000380060.3	37	c.2068	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868501	0.72065	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.54279	0.58;0.61	6.03	6.03	0.97812	.	0.087610	0.85682	D	0.000000	T	0.69628	0.3132	L	0.58810	1.83	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.87578	0.974;0.974;0.974;0.998	T	0.62627	-0.6814	10	0.21540	T	0.41	-21.076	19.4775	0.94995	0.0:0.0:1.0:0.0	.	711;532;534;690	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	N	690;534;532	ENSP00000369400:D690N;ENSP00000381170:D534N	ENSP00000369397:D532N	D	+	1	0	NHS	17654278	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.476000	0.97823	2.554000	0.86153	0.600000	0.82982	GAT	NHS	-	NULL		0.507	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	G	NM_198270		17744357	+1	no_errors	ENST00000380060	ensembl	human	known	70_37	missense	SNP	1.000	A
NOL10	79954	genome.wustl.edu	37	2	10729803	10729803	+	Silent	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr2:10729803C>T	ENST00000381685.5	-	18	1602	c.1497G>A	c.(1495-1497)gaG>gaA	p.E499E	AC092687.5_ENST00000414538.1_RNA|NOL10_ENST00000542668.1_Silent_p.E449E|NOL10_ENST00000538384.1_Silent_p.E473E|NOL10_ENST00000345985.3_Silent_p.E449E	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	499						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		ATTCTTCACTCTCTTCATCTA	0.348																																																	0													60.0	55.0	57.0					2																	10729803		2201	4294	6495	SO:0001819	synonymous_variant	79954			AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"""polyglutamine binding protein 5"""	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.1497G>A	2.37:g.10729803C>T			A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Silent	SNP	pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.E499	ENST00000381685.5	37	c.1497	CCDS1673.2	2																																																																																			NOL10	-	pfam_NUC153		0.348	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL10	HGNC	protein_coding	OTTHUMT00000239227.1	C	NM_024894		10729803	-1	no_errors	ENST00000381685	ensembl	human	known	70_37	silent	SNP	1.000	T
NUP188	23511	genome.wustl.edu	37	9	131752436	131752436	+	Silent	SNP	A	A	G			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr9:131752436A>G	ENST00000372577.2	+	25	2592	c.2571A>G	c.(2569-2571)aaA>aaG	p.K857K		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	857					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TTCTAGCCAAATACATCTACC	0.463																																																	0													463.0	403.0	423.0					9																	131752436		2203	4300	6503	SO:0001819	synonymous_variant	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2571A>G	9.37:g.131752436A>G			Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.K857	ENST00000372577.2	37	c.2571	CCDS35156.1	9																																																																																			NUP188	-	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold		0.463	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	A			131752436	+1	no_errors	ENST00000372577	ensembl	human	known	70_37	silent	SNP	0.998	G
OR4C15	81309	genome.wustl.edu	37	11	55322729	55322729	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr11:55322729C>T	ENST00000314644.2	+	1	947	c.947C>T	c.(946-948)tCt>tTt	p.S316F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CGACCTCCATCTGCTTTTTCC	0.398										HNSCC(20;0.049)																																							0													219.0	217.0	217.0					11																	55322729		2201	4296	6497	SO:0001583	missense	81309			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.947C>T	11.37:g.55322729C>T	ENSP00000324958:p.Ser316Phe		Q6IFE2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S316F	ENST00000314644.2	37	c.947	CCDS31501.1	11	.	.	.	.	.	.	.	.	.	.	C	9.461	1.093104	0.20471	.	.	ENSG00000181939	ENST00000314644	T	0.00267	8.38	4.92	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00552	0.0018	M	0.86651	2.83	0.09310	N	1	D	0.61080	0.989	D	0.71184	0.972	T	0.43180	-0.9407	9	0.56958	D	0.05	.	6.7846	0.23665	0.0:0.7269:0.1784:0.0948	.	262	Q8NGM1	OR4CF_HUMAN	F	316	ENSP00000324958:S316F	ENSP00000324958:S316F	S	+	2	0	OR4C15	55079305	0.000000	0.05858	0.138000	0.22173	0.248000	0.25809	-0.167000	0.09940	1.308000	0.44962	0.385000	0.25706	TCT	OR4C15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.398	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	HGNC	protein_coding	OTTHUMT00000391164.1	C	NM_001001920		55322729	+1	no_errors	ENST00000314644	ensembl	human	known	70_37	missense	SNP	0.003	T
OR7G1	125962	genome.wustl.edu	37	19	9225565	9225565	+	Missense_Mutation	SNP	A	A	G			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr19:9225565A>G	ENST00000541538.1	-	1	874	c.875T>C	c.(874-876)cTg>cCg	p.L292P	OR7G1_ENST00000293614.1_Missense_Mutation_p.L292P	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						CTTATTTCTCAGGCTGTAGAT	0.418																																																	0													120.0	109.0	112.0					19																	9225565		2203	4300	6503	SO:0001583	missense	125962				CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"""GPCR / Class A : Olfactory receptors"""	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.875T>C	19.37:g.9225565A>G	ENSP00000444134:p.Leu292Pro		Q6IFJ5|Q96RA1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L292P	ENST00000541538.1	37	c.875	CCDS32898.2	19	.	.	.	.	.	.	.	.	.	.	a	13.01	2.109647	0.37242	.	.	ENSG00000161807	ENST00000293614;ENST00000541538	T;T	0.49720	0.77;0.77	3.78	3.78	0.43462	.	0.289697	0.18665	U	0.134619	T	0.80476	0.4630	H	0.99732	4.735	0.49051	D	0.999743	D	0.89917	1.0	D	0.76575	0.988	D	0.84442	0.0583	10	0.87932	D	0	.	8.6944	0.34287	0.8075:0.1925:0.0:0.0	.	292	Q8NGA0	OR7G1_HUMAN	P	292	ENSP00000293614:L292P;ENSP00000444134:L292P	ENSP00000293614:L292P	L	-	2	0	OR7G1	9086565	0.860000	0.29831	1.000000	0.80357	0.213000	0.24496	7.859000	0.86982	1.700000	0.51204	0.410000	0.27636	CTG	OR7G1	-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.418	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7G1	HGNC	protein_coding	OTTHUMT00000397912.1	A			9225565	-1	no_errors	ENST00000293614	ensembl	human	known	70_37	missense	SNP	1.000	G
P2RX6	9127	genome.wustl.edu	37	22	21377259	21377259	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr22:21377259C>G	ENST00000413302.2	+	5	640	c.492C>G	c.(490-492)ttC>ttG	p.F164L	P2RX6_ENST00000401443.1_Missense_Mutation_p.F138L|P2RX6_ENST00000336296.2_Missense_Mutation_p.F154L|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000443995.3_Missense_Mutation_p.F111L			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	164					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|channel activity (GO:0015267)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)										GTGTGGTGTTCAATGGGACCC	0.562																																																	0													156.0	157.0	156.0					22																	21377259		2203	4300	6503	SO:0001583	missense	9127				CCDS13788.2, CCDS54504.1	22q11.21	2012-01-17	2008-03-28	2008-03-28	ENSG00000099957	ENSG00000099957		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8538	protein-coding gene	gene with protein product		608077	"""purinergic receptor P2X-like 1, orphan receptor"""	P2RXL1		9242461, 10591208, 8786426	Standard	NM_005446		Approved	P2XM, MGC129625, P2X6	uc010gsu.1	O15547	OTTHUMG00000150689	ENST00000413302.2:c.492C>G	22.37:g.21377259C>G	ENSP00000416193:p.Phe164Leu		F6V3D7|Q32MB6|Q58F04|Q6IC33|Q9UL50	Missense_Mutation	SNP	pfam_P2X_purnocptor,prints_P2X6_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.F164L	ENST00000413302.2	37	c.492	CCDS13788.2	22	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445462	0.63178	.	.	ENSG00000099957	ENST00000413302;ENST00000336296;ENST00000401443;ENST00000443995	T;T;T;T	0.04049	3.72;3.72;3.72;3.72	5.23	1.47	0.22746	.	0.104245	0.42682	D	0.000670	T	0.09468	0.0233	M	0.64260	1.97	0.09310	N	0.999991	D;D	0.57571	0.98;0.975	P;P	0.54174	0.744;0.627	T	0.08785	-1.0705	10	0.49607	T	0.09	-13.8276	5.453	0.16574	0.0:0.6087:0.1676:0.2237	.	164;138	O15547;F6V3D7	P2RX6_HUMAN;.	L	164;154;138;111	ENSP00000416193:F164L;ENSP00000338797:F154L;ENSP00000385309:F138L;ENSP00000408088:F111L	ENSP00000338797:F154L	F	+	3	2	P2RX6	19707259	0.063000	0.20901	0.745000	0.31077	0.821000	0.46438	0.436000	0.21526	0.696000	0.31696	0.484000	0.47621	TTC	P2RX6	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor		0.562	P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX6	HGNC	protein_coding	OTTHUMT00000319625.2	C	NM_005446		21377259	+1	no_errors	ENST00000413302	ensembl	human	known	70_37	missense	SNP	0.288	G
PBX3	5090	genome.wustl.edu	37	9	128723096	128723096	+	Missense_Mutation	SNP	A	A	G			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr9:128723096A>G	ENST00000373489.5	+	6	993	c.977A>G	c.(976-978)aAc>aGc	p.N326S	PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000373483.2_Missense_Mutation_p.N145S|PBX3_ENST00000373487.4_Missense_Mutation_p.N347S|PBX3_ENST00000342287.5_Missense_Mutation_p.N326S|PBX3_ENST00000447726.2_Missense_Mutation_p.N251S	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	326					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						GTGCAGAACAACCAGACCAAT	0.567																																																	0													72.0	54.0	60.0					9																	128723096		2203	4300	6503	SO:0001583	missense	5090				CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"""Homeoboxes / TALE class"""	8634	protein-coding gene	gene with protein product		176312	"""pre-B-cell leukemia transcription factor 3"""			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.977A>G	9.37:g.128723096A>G	ENSP00000362588:p.Asn326Ser		E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Missense_Mutation	SNP	pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.N326S	ENST00000373489.5	37	c.977	CCDS6865.1	9	.	.	.	.	.	.	.	.	.	.	A	12.33	1.904294	0.33628	.	.	ENSG00000167081	ENST00000373492;ENST00000373489;ENST00000342287;ENST00000373487;ENST00000373483;ENST00000373482;ENST00000447726;ENST00000538998	D;D;T;D;D;D	0.87650	-2.07;-2.02;2.05;-2.25;-2.28;-2.16	5.87	5.87	0.94306	.	0.039522	0.85682	D	0.000000	T	0.78227	0.4250	N	0.00859	-1.14	0.58432	D	0.999996	P;B;B	0.46578	0.88;0.0;0.0	P;B;B	0.62184	0.899;0.001;0.0	T	0.77653	-0.2507	10	0.02654	T	1	.	16.2813	0.82687	1.0:0.0:0.0:0.0	.	237;347;326	B7Z5Q0;Q5JS98;P40426	.;.;PBX3_HUMAN	S	145;326;326;347;145;145;251;237	ENSP00000362588:N326S;ENSP00000341990:N326S;ENSP00000362586:N347S;ENSP00000362582:N145S;ENSP00000387456:N251S;ENSP00000444005:N237S	ENSP00000341990:N326S	N	+	2	0	PBX3	127762917	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.174000	0.77620	2.244000	0.73946	0.533000	0.62120	AAC	PBX3	-	NULL		0.567	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PBX3	HGNC	protein_coding	OTTHUMT00000417765.1	A			128723096	+1	no_errors	ENST00000373489	ensembl	human	known	70_37	missense	SNP	1.000	G
PCDH15	65217	genome.wustl.edu	37	10	55600127	55600127	+	Silent	SNP	T	T	C	rs398124433		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr10:55600127T>C	ENST00000320301.6	-	29	4330	c.3936A>G	c.(3934-3936)gcA>gcG	p.A1312A	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Silent_p.A1290A|PCDH15_ENST00000409834.1_Silent_p.A923A|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Silent_p.A1317A|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Silent_p.A1312A|PCDH15_ENST00000361849.3_Silent_p.A1312A|PCDH15_ENST00000373965.2_Silent_p.A1319A|PCDH15_ENST00000395438.1_Silent_p.A1312A|PCDH15_ENST00000437009.1_Silent_p.A1241A|PCDH15_ENST00000395432.2_Silent_p.A1275A|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Silent_p.A1319A	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1312					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGGGGTCAATTGCATAGACAG	0.443										HNSCC(58;0.16)																																							0													161.0	151.0	155.0					10																	55600127		2203	4300	6503	SO:0001819	synonymous_variant	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3936A>G	10.37:g.55600127T>C			A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A1312	ENST00000320301.6	37	c.3936	CCDS7248.1	10																																																																																			PCDH15	-	NULL		0.443	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	T	NM_033056		55600127	-1	no_errors	ENST00000320301	ensembl	human	known	70_37	silent	SNP	0.989	C
PCDHB3	56132	genome.wustl.edu	37	5	140481518	140481518	+	Missense_Mutation	SNP	C	C	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr5:140481518C>A	ENST00000231130.2	+	1	1285	c.1285C>A	c.(1285-1287)Ccc>Acc	p.P429T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	429	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGGGACACCCAGGCTGAA	0.522																																																	0													89.0	85.0	86.0					5																	140481518		2203	4300	6503	SO:0001583	missense	56132			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1285C>A	5.37:g.140481518C>A	ENSP00000231130:p.Pro429Thr		B2R8P2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P429T	ENST00000231130.2	37	c.1285	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502788	0.44558	.	.	ENSG00000113205	ENST00000231130	T	0.56275	0.47	4.39	4.39	0.52855	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.84969	0.5590	H	0.99758	4.755	0.50171	D	0.999851	D	0.89917	1.0	D	0.97110	1.0	D	0.92207	0.5773	9	0.87932	D	0	.	16.0975	0.81135	0.0:1.0:0.0:0.0	.	429	Q9Y5E6	PCDB3_HUMAN	T	429	ENSP00000231130:P429T	ENSP00000231130:P429T	P	+	1	0	PCDHB3	140461702	0.776000	0.28616	0.904000	0.35570	0.053000	0.15095	2.092000	0.41700	2.155000	0.67459	0.655000	0.94253	CCC	PCDHB3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.522	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	C	NM_018937		140481518	+1	no_errors	ENST00000231130	ensembl	human	known	70_37	missense	SNP	0.992	A
PCYT1A	5130	genome.wustl.edu	37	3	195965567	195965567	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr3:195965567C>T	ENST00000292823.2	-	10	1268	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	PCYT1A_ENST00000431016.1_Missense_Mutation_p.E366K|PCYT1A_ENST00000419333.1_Intron	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	366					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	CATTAGTCTTCTTCATCCTCA	0.502																																																	0													127.0	123.0	124.0					3																	195965567		2203	4300	6503	SO:0001583	missense	5130			L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	123695	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.1096G>A	3.37:g.195965567C>T	ENSP00000292823:p.Glu366Lys		A9LYK9|D3DXB1|Q86Y88	Missense_Mutation	SNP	pfam_Cytidylyltransf,superfamily_NA-bd_OB-fold-like,tigrfam_Cyt_trans-like	p.E366K	ENST00000292823.2	37	c.1096	CCDS3315.1	3	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792283	0.90453	.	.	ENSG00000161217	ENST00000292823;ENST00000416798;ENST00000431016	.	.	.	6.17	6.17	0.99709	.	0.192107	0.56097	D	0.000033	T	0.77123	0.4084	L	0.57536	1.79	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.73972	-0.3814	9	0.46703	T	0.11	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	366	P49585	PCY1A_HUMAN	K	366;327;366	.	ENSP00000292823:E366K	E	-	1	0	PCYT1A	197449964	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.456000	0.80751	2.941000	0.99782	0.655000	0.94253	GAA	PCYT1A	-	NULL		0.502	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYT1A	HGNC	protein_coding	OTTHUMT00000341147.1	C	NM_005017		195965567	-1	no_errors	ENST00000292823	ensembl	human	known	70_37	missense	SNP	1.000	T
PDZRN4	29951	genome.wustl.edu	37	12	41967170	41967170	+	Silent	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr12:41967170C>T	ENST00000402685.2	+	10	2597	c.2589C>T	c.(2587-2589)gtC>gtT	p.V863V	PDZRN4_ENST00000539469.2_Silent_p.V605V|PDZRN4_ENST00000298919.7_Silent_p.V603V	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	863							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			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)				AATCTGCAGTCGAGTATGCTC	0.473																																																	0													115.0	114.0	115.0					12																	41967170		2203	4300	6503	SO:0001819	synonymous_variant	29951			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.2589C>T	12.37:g.41967170C>T			Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Silent	SNP	pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.V863	ENST00000402685.2	37	c.2589	CCDS53777.1	12																																																																																			PDZRN4	-	NULL		0.473	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN4	HGNC	protein_coding	OTTHUMT00000403701.1	C	NM_013377		41967170	+1	no_errors	ENST00000402685	ensembl	human	known	70_37	silent	SNP	0.992	T
PIGO	84720	genome.wustl.edu	37	9	35093126	35093126	+	Silent	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr9:35093126G>A	ENST00000378617.3	-	6	1414	c.1020C>T	c.(1018-1020)atC>atT	p.I340I	PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000361778.2_Silent_p.I340I|PIGO_ENST00000341666.3_Silent_p.I340I|PIGO_ENST00000298004.5_Silent_p.I340I	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	340					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCACTTCCCCGATATTCCCAA	0.572																																																	0													55.0	50.0	52.0					9																	35093126		2203	4300	6503	SO:0001819	synonymous_variant	84720			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1020C>T	9.37:g.35093126G>A			B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.I340	ENST00000378617.3	37	c.1020	CCDS6575.1	9																																																																																			PIGO	-	superfamily_Alkaline_phosphatase_core		0.572	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGO	HGNC	protein_coding	OTTHUMT00000052284.1	G	NM_032634		35093126	-1	no_errors	ENST00000341666	ensembl	human	known	70_37	silent	SNP	0.378	A
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		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.E545K(881)|p.E545Q(18)		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)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				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.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
POM121L9P	29774	genome.wustl.edu	37	22	24659933	24659933	+	RNA	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr22:24659933C>T	ENST00000414583.2	+	0	3458					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TCTCAGGAACCTTTCAAGCGG	0.567																																																	0																																												29774			AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659933C>T				RNA	SNP	-	NULL	ENST00000414583.2	37	NULL		22																																																																																			POM121L9P	-	-		0.567	POM121L9P-001	KNOWN	basic	processed_transcript	POM121L9P	HGNC	pseudogene	OTTHUMT00000319991.1	C	NM_014549		24659933	+1	no_errors	ENST00000414583	ensembl	human	known	70_37	rna	SNP	0.001	T
PTGER3	5733	genome.wustl.edu	37	1	71418672	71418672	+	3'UTR	SNP	C	C	T	rs202177071		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr1:71418672C>T	ENST00000414819.1	-	0	1497				PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000370932.2_Intron|RP3-333A15.1_ENST00000426775.1_RNA|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000356595.4_Missense_Mutation_p.R392H|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000354608.5_Intron	NM_001126044.1	NP_001119516.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)						cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GTTCAGCACACGATAGGTTTG	0.393																																																	0								C	,,,,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	233.0	212.0	219.0		,,,,1175	-1.7	0.0	1		219	1,8599	1.2+/-3.3	0,1,4299	yes	utr-3,intron,intron,intron,missense	PTGER3	NM_001126044.1,NM_198714.1,NM_198716.1,NM_198717.1,NM_198718.1	,,,,29	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	,,,,possibly-damaging	,,,,392/419	71418672	3,13003	2203	4300	6503	SO:0001624	3_prime_UTR_variant	5733			X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000414819.1:c.*94G>A	1.37:g.71418672C>T			B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt	p.R392H	ENST00000414819.1	37	c.1175	CCDS656.1	1	.	.	.	.	.	.	.	.	.	.	C	4.916	0.170264	0.09339	4.54E-4	1.16E-4	ENSG00000050628	ENST00000356595	T	0.12879	2.64	2.2	-1.68	0.08212	.	.	.	.	.	T	0.01730	0.0055	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46133	-0.9213	9	0.46703	T	0.11	.	5.7869	0.18338	0.0:0.4862:0.0:0.5138	.	392	B1AK19	.	H	392	ENSP00000349003:R392H	ENSP00000349003:R392H	R	-	2	0	PTGER3	71191260	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.791000	0.00767	-0.404000	0.07610	-0.786000	0.03341	CGT	PTGER3	-	NULL		0.393	PTGER3-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTGER3	HGNC	protein_coding	OTTHUMT00000026077.1	C	NM_000957		71418672	-1	no_errors	ENST00000356595	ensembl	human	known	70_37	missense	SNP	0.000	T
PZP	5858	genome.wustl.edu	37	12	9321533	9321533	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr12:9321533C>T	ENST00000261336.2	-	17	2067	c.2039G>A	c.(2038-2040)cGa>cAa	p.R680Q	PZP_ENST00000539983.1_5'Flank|PZP_ENST00000381997.2_Missense_Mutation_p.R549Q	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	680					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CTTTGGTTTTCGGATTTTTGA	0.353																																					Melanoma(125;1402 1695 4685 34487 38571)												0													121.0	120.0	120.0					12																	9321533		2203	4300	6503	SO:0001583	missense	5858			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2039G>A	12.37:g.9321533C>T	ENSP00000261336:p.Arg680Gln		A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.R680Q	ENST00000261336.2	37	c.2039	CCDS8600.1	12	.	.	.	.	.	.	.	.	.	.	C	9.460	1.092972	0.20471	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.36699	1.43;1.24	3.23	-0.861	0.10676	.	1.128580	0.07181	U	0.854027	T	0.22322	0.0538	L	0.28054	0.825	0.09310	N	1	B;P;B	0.45827	0.184;0.867;0.184	B;B;B	0.37422	0.014;0.249;0.014	T	0.21552	-1.0242	10	0.54805	T	0.06	.	6.8568	0.24044	0.0:0.5298:0.0:0.4702	.	680;549;680	B2R950;P20742-2;P20742	.;.;PZP_HUMAN	Q	680;549	ENSP00000261336:R680Q;ENSP00000371427:R549Q	ENSP00000261336:R680Q	R	-	2	0	PZP	9212800	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.899000	0.01600	-0.090000	0.12462	0.563000	0.77884	CGA	PZP	-	NULL		0.353	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	HGNC	protein_coding	OTTHUMT00000337624.1	C	NM_002864		9321533	-1	no_errors	ENST00000261336	ensembl	human	known	70_37	missense	SNP	0.000	T
PTPRB	5787	genome.wustl.edu	37	12	70983807	70983807	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr12:70983807C>T	ENST00000261266.5	-	6	1362	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K	PTPRB_ENST00000550358.1_Missense_Mutation_p.E663K|PTPRB_ENST00000538708.1_Missense_Mutation_p.E445K|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000334414.6_Missense_Mutation_p.E663K|PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000551525.1_Missense_Mutation_p.E662K	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	445	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACTTCCACCTCATACTGTCTT	0.453											OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													155.0	158.0	157.0					12																	70983807		1979	4157	6136	SO:0001583	missense	5787			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1333G>A	12.37:g.70983807C>T	ENSP00000261266:p.Glu445Lys	1126	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.E663K	ENST00000261266.5	37	c.1987	CCDS44944.1	12	.	.	.	.	.	.	.	.	.	.	C	3.063	-0.192927	0.06259	.	.	ENSG00000127329	ENST00000334414;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35	5.32	3.35	0.38373	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.578538	0.19192	N	0.120408	T	0.45955	0.1368	L	0.42581	1.335	0.80722	D	1	B;P;B;B;B;B	0.34462	0.215;0.454;0.399;0.125;0.136;0.185	B;B;B;B;B;B	0.39935	0.209;0.314;0.209;0.138;0.217;0.281	T	0.28618	-1.0038	10	0.06891	T	0.86	.	15.1733	0.72891	0.0:0.7326:0.2674:0.0	.	445;542;662;663;445;663	F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;PTPRB_HUMAN;.	K	663;663;663;445;445;662;542	ENSP00000334928:E663K;ENSP00000448058:E663K;ENSP00000438927:E445K;ENSP00000261266:E445K;ENSP00000448349:E662K;ENSP00000446982:E542K	ENSP00000261266:E445K	E	-	1	0	PTPRB	69270074	0.937000	0.31787	0.807000	0.32361	0.084000	0.17831	0.593000	0.23999	1.206000	0.43276	-0.176000	0.13171	GAG	PTPRB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.453	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404439.1	C			70983807	-1	no_errors	ENST00000334414	ensembl	human	known	70_37	missense	SNP	1.000	T
RAB11FIP5	26056	genome.wustl.edu	37	2	73302590	73302590	+	3'UTR	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr2:73302590G>A	ENST00000258098.6	-	0	2261				RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)						cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						AGTTCAGGAGGAGAGAGGGCA	0.632																																																	0																																										SO:0001624	3_prime_UTR_variant	26056			AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.*59C>T	2.37:g.73302590G>A			O94939|Q9P0M1	RNA	SNP	-	NULL	ENST00000258098.6	37	NULL	CCDS1923.1	2																																																																																			RAB11FIP5	-	-		0.632	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP5	HGNC	protein_coding	OTTHUMT00000251995.1	G	NM_015470		73302590	-1	no_errors	ENST00000493523	ensembl	human	known	70_37	rna	SNP	0.003	A
RAD17	5884	genome.wustl.edu	37	5	68666944	68666944	+	5'UTR	SNP	T	T	C			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr5:68666944T>C	ENST00000509734.1	+	0	562				RAD17_ENST00000282891.6_5'UTR|RAD17_ENST00000358030.2_5'UTR|RAD17_ENST00000345306.6_Intron|RAD17_ENST00000380774.3_5'Flank|TAF9_ENST00000380818.3_5'Flank|TAF9_ENST00000502819.1_5'Flank|TAF9_ENST00000217893.5_5'Flank|TAF9_ENST00000512561.1_5'Flank|TAF9_ENST00000380822.4_5'Flank|RAD17_ENST00000504177.1_3'UTR|RAD17_ENST00000361732.2_5'UTR|RAD17_ENST00000305138.4_5'UTR|TAF9_ENST00000328663.4_5'Flank|RAD17_ENST00000521422.1_5'UTR|RAD17_ENST00000354868.5_5'UTR|RAD17_ENST00000354312.3_5'UTR			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)						cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AGGAAAACTTTAATTTTCAGT	0.274								Other conserved DNA damage response genes																																									0													50.0	58.0	56.0					5																	68666944		874	1989	2863	SO:0001623	5_prime_UTR_variant	5884			AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"""RAD1 (S. pombe) homolog"""			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.-117T>C	5.37:g.68666944T>C			A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	RNA	SNP	-	NULL	ENST00000509734.1	37	NULL	CCDS4003.1	5																																																																																			RAD17	-	-		0.274	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RAD17	HGNC	protein_coding	OTTHUMT00000369171.1	T	NM_133344		68666944	+1	no_errors	ENST00000504177	ensembl	human	known	70_37	rna	SNP	0.000	C
RAET1K	646024	genome.wustl.edu	37	6	150322552	150322552	+	RNA	SNP	C	C	G			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr6:150322552C>G	ENST00000533735.1	-	0	324					NR_024045.1				retinoic acid early transcript 1K pseudogene																		CCCCACATCTCTTAGTGTTTC	0.418																																																	0																																												646024			AF425244		6q25.1	2012-01-10			ENSG00000218358	ENSG00000218358			16797	pseudogene	pseudogene						11827464	Standard	NR_024045		Approved		uc003qnq.3		OTTHUMG00000015815		6.37:g.150322552C>G				RNA	SNP	-	NULL	ENST00000533735.1	37	NULL		6																																																																																			RAET1K	-	-		0.418	RAET1K-002	KNOWN	basic	processed_transcript	RAET1K	HGNC	pseudogene	OTTHUMT00000390882.1	C			150322552	-1	no_errors	ENST00000533735	ensembl	human	known	70_37	rna	SNP	0.000	G
RAET1K	646024	genome.wustl.edu	37	6	150322616	150322616	+	RNA	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr6:150322616C>T	ENST00000533735.1	-	0	260					NR_024045.1				retinoic acid early transcript 1K pseudogene																		CTTAGTGTTTCAGTTTGTTCT	0.438																																																	0																																												646024			AF425244		6q25.1	2012-01-10			ENSG00000218358	ENSG00000218358			16797	pseudogene	pseudogene						11827464	Standard	NR_024045		Approved		uc003qnq.3		OTTHUMG00000015815		6.37:g.150322616C>T				RNA	SNP	-	NULL	ENST00000533735.1	37	NULL		6																																																																																			RAET1K	-	-		0.438	RAET1K-002	KNOWN	basic	processed_transcript	RAET1K	HGNC	pseudogene	OTTHUMT00000390882.1	C			150322616	-1	no_errors	ENST00000533735	ensembl	human	known	70_37	rna	SNP	0.004	T
RBMS1	5937	genome.wustl.edu	37	2	161130979	161130982	+	3'UTR	DEL	TTTC	TTTC	-	rs201326280|rs200119683	byFrequency	TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	TTTC	TTTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr2:161130979_161130982delTTTC	ENST00000348849.3	-	0	1952_1955				ITGB6_ENST00000485635.1_5'Flank|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409075.1_3'UTR|RBMS1_ENST00000409289.2_3'UTR	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1						DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								tctttttttttttctttttctttt	0.284														613	0.122404	0.0045	0.0576	5008	,	,		17165	0.2748		0.1352	False		,,,				2504	0.1575																0																																										SO:0001624	3_prime_UTR_variant	5937			D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"""RNA binding motif (RRM) containing"""	9907	protein-coding gene	gene with protein product	"""suppressor of cdc 2 (cdc13) with RNA binding motif 2"", ""c-myc gene single strand binding protein 2"""	602310	"""chromosome 2 open reading frame 12"""	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.*304GAAA>-	2.37:g.161130979_161130982delTTTC			Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	RNA	DEL	-	NULL	ENST00000348849.3	37	NULL	CCDS2213.1	2																																																																																			RBMS1	-	-		0.284	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMS1	HGNC	protein_coding	OTTHUMT00000255043.4	TTTC	NM_016836		161130982	-1	no_errors	ENST00000474820	ensembl	human	known	70_37	rna	DEL	0.121:0.138:0.129:0.057	-
RHOT2	89941	genome.wustl.edu	37	16	720883	720883	+	Intron	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr16:720883C>T	ENST00000315082.4	+	10	753				RHOT2_ENST00000569943.2_3'UTR	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2						cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				AACGTTCTCTCGGAAGCAGAA	0.672																																																	0													25.0	28.0	27.0					16																	720883		2188	4293	6481	SO:0001627	intron_variant	89941			BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.640-9C>T	16.37:g.720883C>T			A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	RNA	SNP	-	NULL	ENST00000315082.4	37	NULL	CCDS10417.1	16																																																																																			RHOT2	-	-		0.672	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOT2	HGNC	protein_coding	OTTHUMT00000241617.1	C	NM_138769		720883	+1	no_errors	ENST00000569943	ensembl	human	known	70_37	rna	SNP	0.000	T
RPE65	6121	genome.wustl.edu	37	1	68896859	68896859	+	Splice_Site	SNP	G	G	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr1:68896859G>T	ENST00000262340.5	-	13	1392	c.1339C>A	c.(1339-1341)Ctc>Atc	p.L447I		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	447					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						AGCTTACAGAGCTGTTTGTGA	0.373																																																	0													58.0	60.0	60.0					1																	68896859		2203	4300	6503	SO:0001630	splice_region_variant	6121			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.1339-1C>A	1.37:g.68896859G>T			A8K1L0|Q5T9U3	Missense_Mutation	SNP	pfam_Carotenoid_Oase	p.L447I	ENST00000262340.5	37	c.1339	CCDS643.1	1	.	.	.	.	.	.	.	.	.	.	G	3.344	-0.134059	0.06711	.	.	ENSG00000116745	ENST00000262340	D	0.95885	-3.84	5.13	4.21	0.49690	.	0.108524	0.64402	N	0.000010	D	0.89417	0.6709	N	0.21448	0.665	0.45634	D	0.998565	P	0.35363	0.497	P	0.52454	0.699	D	0.85809	0.1378	10	0.06494	T	0.89	0.6119	9.9986	0.41916	0.096:0.0:0.904:0.0	.	447	Q16518	RPE65_HUMAN	I	447	ENSP00000262340:L447I	ENSP00000262340:L447I	L	-	1	0	RPE65	68669447	1.000000	0.71417	0.998000	0.56505	0.365000	0.29674	5.457000	0.66672	1.149000	0.42402	0.555000	0.69702	CTC	RPE65	-	pfam_Carotenoid_Oase		0.373	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPE65	HGNC	protein_coding	OTTHUMT00000025509.1	G	NM_000329	Missense_Mutation	68896859	-1	no_errors	ENST00000262340	ensembl	human	known	70_37	missense	SNP	0.996	T
S100A3	6274	genome.wustl.edu	37	1	153520280	153520280	+	Silent	SNP	G	G	A	rs116208483	byFrequency	TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr1:153520280G>A	ENST00000368713.3	-	3	380	c.184C>T	c.(184-186)Ctg>Ttg	p.L62L	S100A4_ENST00000368716.4_5'Flank|S100A4_ENST00000368714.1_Intron|S100A4_ENST00000354332.4_5'Flank|S100A4_ENST00000481009.1_5'Flank|S100A3_ENST00000368712.1_Silent_p.L62L|S100A4_ENST00000368715.1_5'Flank	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	62	EF-hand 2.					cytoplasm (GO:0005737)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTGGTGTCCAGAACACTCATG	0.532																																																	0													254.0	220.0	232.0					1																	153520280		2203	4300	6503	SO:0001819	synonymous_variant	6274			BC012893	CCDS1043.1	1q21	2008-02-05	2001-11-28		ENSG00000188015	ENSG00000188015		"""S100 calcium binding proteins"""	10493	protein-coding gene	gene with protein product		176992	"""S100 calcium-binding protein A3"""	S100E		8341667	Standard	NM_002960		Approved		uc001fca.1	P33764	OTTHUMG00000013550	ENST00000368713.3:c.184C>T	1.37:g.153520280G>A			D3DV51|Q6FGE4	Silent	SNP	pfam_S100_Ca-bd_sub	p.L62	ENST00000368713.3	37	c.184	CCDS1043.1	1																																																																																			S100A3	-	NULL		0.532	S100A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100A3	HGNC	protein_coding	OTTHUMT00000037726.1	G	NM_002960		153520280	-1	no_errors	ENST00000368712	ensembl	human	known	70_37	silent	SNP	0.543	A
SAP130	79595	genome.wustl.edu	37	2	128747378	128747378	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr2:128747378C>T	ENST00000259235.3	-	13	1747	c.1618G>A	c.(1618-1620)Gtc>Atc	p.V540I	SAP130_ENST00000357702.5_Missense_Mutation_p.V540I|SAP130_ENST00000259234.6_Missense_Mutation_p.V514I	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	540					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TTTAGGTGGACGGTAGACGCT	0.507																																																	0													103.0	85.0	91.0					2																	128747378		2203	4300	6503	SO:0001583	missense	79595			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1618G>A	2.37:g.128747378C>T	ENSP00000259235:p.Val540Ile		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	NULL	p.V540I	ENST00000259235.3	37	c.1618	CCDS2153.1	2	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001068	0.35320	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.14	5.14	0.70334	.	0.118799	0.56097	D	0.000028	T	0.59932	0.2230	L	0.32530	0.975	0.53005	D	0.999965	D;P;D;P;P	0.64830	0.994;0.947;0.958;0.912;0.899	P;B;B;B;B	0.53518	0.728;0.406;0.351;0.437;0.268	T	0.56908	-0.7901	9	0.30078	T	0.28	-20.1351	18.6187	0.91313	0.0:1.0:0.0:0.0	.	540;513;540;70;178	B7ZLM3;Q96DP1;Q9H0E3;Q9H0E3-2;B3KRT9	.;.;SP130_HUMAN;.;.	I	540;540;514	.	ENSP00000259234:V514I	V	-	1	0	SAP130	128463848	1.000000	0.71417	0.981000	0.43875	0.080000	0.17528	4.322000	0.59215	2.369000	0.80426	0.655000	0.94253	GTC	SAP130	-	NULL		0.507	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	HGNC	protein_coding	OTTHUMT00000254436.3	C	NM_024545		128747378	-1	no_errors	ENST00000357702	ensembl	human	known	70_37	missense	SNP	1.000	T
SASH3	54440	genome.wustl.edu	37	X	128922006	128922006	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chrX:128922006C>T	ENST00000356892.3	+	2	227	c.113C>T	c.(112-114)tCc>tTc	p.S38F	SASH3_ENST00000476532.1_3'UTR	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	38					homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						AAACCCAGCTCCCCCGTGGTG	0.567																																																	0													100.0	93.0	95.0					X																	128922006		2203	4300	6503	SO:0001583	missense	54440			BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	15975	protein-coding gene	gene with protein product		300441	"""chromosome X open reading frame 9"""	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.113C>T	X.37:g.128922006C>T	ENSP00000349359:p.Ser38Phe		A6NCH1|A8K7K8|Q5JZ38	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.S38F	ENST00000356892.3	37	c.113	CCDS14614.1	X	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703805	0.88924	.	.	ENSG00000122122	ENST00000356892	T	0.53640	0.61	5.16	5.16	0.70880	.	0.059218	0.64402	D	0.000001	T	0.56529	0.1991	N	0.22421	0.69	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.62798	-0.6778	10	0.87932	D	0	-9.9045	16.4651	0.84076	0.0:1.0:0.0:0.0	.	38	O75995	SASH3_HUMAN	F	38	ENSP00000349359:S38F	ENSP00000349359:S38F	S	+	2	0	SASH3	128749687	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.399000	0.79935	2.143000	0.66587	0.600000	0.82982	TCC	SASH3	-	pfam_rSAM/SH3_domain-containing		0.567	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH3	HGNC	protein_coding	OTTHUMT00000058208.1	C	NM_018990		128922006	+1	no_errors	ENST00000356892	ensembl	human	known	70_37	missense	SNP	1.000	T
SEMA4A	64218	genome.wustl.edu	37	1	156126335	156126335	+	Missense_Mutation	SNP	G	G	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr1:156126335G>T	ENST00000368285.3	+	3	537	c.270G>T	c.(268-270)caG>caT	p.Q90H	SEMA4A_ENST00000368282.1_Missense_Mutation_p.Q90H|SEMA4A_ENST00000368284.1_5'UTR|SEMA4A_ENST00000355014.2_Missense_Mutation_p.Q90H|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_5'UTR	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	90	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TGGATATCCAGGATCCAGGGG	0.577																																																	0													54.0	53.0	53.0					1																	156126335		2203	4300	6503	SO:0001583	missense	64218			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.270G>T	1.37:g.156126335G>T	ENSP00000357268:p.Gln90His		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.Q90H	ENST00000368285.3	37	c.270	CCDS1132.1	1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308094	0.40895	.	.	ENSG00000196189	ENST00000435124;ENST00000355014;ENST00000368285;ENST00000368283;ENST00000544376;ENST00000438830;ENST00000368282	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	4.73	1.46	0.22682	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	1.311170	0.05575	N	0.571744	T	0.09862	0.0242	L	0.27053	0.805	0.18873	N	0.999981	P	0.38370	0.628	P	0.50314	0.637	T	0.42224	-0.9464	10	0.27785	T	0.31	.	5.6982	0.17867	0.2125:0.2243:0.5631:0.0	.	90	Q9H3S1	SEM4A_HUMAN	H	90;90;90;52;52;90;90	ENSP00000401391:Q90H;ENSP00000347117:Q90H;ENSP00000357268:Q90H;ENSP00000392865:Q90H;ENSP00000357265:Q90H	ENSP00000347117:Q90H	Q	+	3	2	SEMA4A	154392959	0.000000	0.05858	0.983000	0.44433	0.377000	0.30045	-0.027000	0.12371	0.480000	0.27534	0.467000	0.42956	CAG	SEMA4A	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.577	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4A	HGNC	protein_coding	OTTHUMT00000039484.2	G	NM_022367		156126335	+1	no_errors	ENST00000355014	ensembl	human	known	70_37	missense	SNP	0.144	T
SETD5	55209	genome.wustl.edu	37	3	9515122	9515122	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr3:9515122C>T	ENST00000406341.1	+	19	3588	c.3398C>T	c.(3397-3399)tCt>tTt	p.S1133F	SETD5_ENST00000402466.1_Missense_Mutation_p.S1035F|SETD5_ENST00000302463.6_Missense_Mutation_p.S1035F|SETD5_ENST00000407969.1_Missense_Mutation_p.S1152F|SETD5_ENST00000402198.1_Missense_Mutation_p.S1133F			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1133	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TTCTCCCCATCTCATTCCTCT	0.527																																																	0													83.0	83.0	83.0					3																	9515122		1936	4143	6079	SO:0001583	missense	55209			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.3398C>T	3.37:g.9515122C>T	ENSP00000383939:p.Ser1133Phe		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.S1133F	ENST00000406341.1	37	c.3398	CCDS46741.1	3	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849893	0.91277	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.92647	-2.76;-3.08;-2.76;-2.74;-3.08	6.07	6.07	0.98685	.	0.179711	0.49916	D	0.000129	D	0.93426	0.7903	N	0.24115	0.695	0.40231	D	0.977849	D;D;P	0.76494	0.999;0.998;0.61	D;D;B	0.71184	0.972;0.93;0.332	D	0.94000	0.7274	10	0.66056	D	0.02	-7.4931	20.6525	0.99598	0.0:1.0:0.0:0.0	.	802;1035;1133	B3KXG4;Q9C0A6-3;Q9C0A6	.;.;SETD5_HUMAN	F	1133;1035;1133;1152;1035	ENSP00000385852:S1133F;ENSP00000384429:S1035F;ENSP00000383939:S1133F;ENSP00000384114:S1152F;ENSP00000302028:S1035F	ENSP00000302028:S1035F	S	+	2	0	SETD5	9490122	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.453000	0.52978	2.890000	0.99128	0.585000	0.79938	TCT	SETD5	-	NULL		0.527	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	SETD5	HGNC	protein_coding	OTTHUMT00000318425.1	C	XM_371614		9515122	+1	no_errors	ENST00000402198	ensembl	human	known	70_37	missense	SNP	1.000	T
SFTPD	6441	genome.wustl.edu	37	10	81701751	81701751	+	Missense_Mutation	SNP	A	A	G			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr10:81701751A>G	ENST00000372292.3	-	5	549	c.509T>C	c.(508-510)gTc>gCc	p.V170A		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	170	Collagen-like.				defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CTCACCAGGGACACCTCGCTC	0.627																																																	0													92.0	87.0	88.0					10																	81701751		2203	4300	6503	SO:0001583	missense	6441			L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"""Collectins"""	10803	protein-coding gene	gene with protein product		178635	"""surfactant, pulmonary-associated protein D"""	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.509T>C	10.37:g.81701751A>G	ENSP00000361366:p.Val170Ala		Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,pfam_Surfac_D-trimer,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.V170A	ENST00000372292.3	37	c.509	CCDS7362.1	10	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.219233	0.00286	.	.	ENSG00000133661	ENST00000372292;ENST00000444384	T;T	0.53857	0.6;0.6	5.18	-2.24	0.06909	.	1.069230	0.07302	N	0.874236	T	0.19485	0.0468	N	0.03930	-0.32	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17107	-1.0380	10	0.07990	T	0.79	0.0717	0.6454	0.00817	0.2499:0.1315:0.3499:0.2687	.	170	P35247	SFTPD_HUMAN	A	170;183	ENSP00000361366:V170A;ENSP00000394325:V183A	ENSP00000361366:V170A	V	-	2	0	SFTPD	81691731	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	0.033000	0.13754	-0.359000	0.08150	-0.337000	0.08149	GTC	SFTPD	-	pfam_Collagen		0.627	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFTPD	HGNC	protein_coding	OTTHUMT00000049011.1	A			81701751	-1	no_errors	ENST00000372292	ensembl	human	known	70_37	missense	SNP	0.000	G
SIGLEC12	89858	genome.wustl.edu	37	19	52002702	52002702	+	Silent	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr19:52002702G>A	ENST00000291707.3	-	3	1132	c.1077C>T	c.(1075-1077)ctC>ctT	p.L359L	SIGLEC12_ENST00000598614.1_Silent_p.L241L	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	359					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGGATATGTTGAGTCGGACAG	0.607																																																	0													51.0	48.0	49.0					19																	52002702		2203	4300	6503	SO:0001819	synonymous_variant	89858			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1077C>T	19.37:g.52002702G>A			Q8IYH7	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L359	ENST00000291707.3	37	c.1077	CCDS12833.1	19																																																																																			SIGLEC12	-	smart_Ig_sub		0.607	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC12	HGNC	protein_coding	OTTHUMT00000384641.2	G	NM_053003		52002702	-1	no_errors	ENST00000291707	ensembl	human	known	70_37	silent	SNP	0.061	A
SIGLEC12	89858	genome.wustl.edu	37	19	52002798	52002798	+	Silent	SNP	G	G	C			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr19:52002798G>C	ENST00000291707.3	-	3	1036	c.981C>G	c.(979-981)ctC>ctG	p.L327L	SIGLEC12_ENST00000598614.1_Silent_p.L209L	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	327	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGATGAGGCTGAGCATCGAGG	0.662																																																	0													66.0	54.0	58.0					19																	52002798		2203	4300	6503	SO:0001819	synonymous_variant	89858			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.981C>G	19.37:g.52002798G>C			Q8IYH7	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L327	ENST00000291707.3	37	c.981	CCDS12833.1	19																																																																																			SIGLEC12	-	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like		0.662	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC12	HGNC	protein_coding	OTTHUMT00000384641.2	G	NM_053003		52002798	-1	no_errors	ENST00000291707	ensembl	human	known	70_37	silent	SNP	0.007	C
SLC29A3	55315	genome.wustl.edu	37	10	73115968	73115968	+	Silent	SNP	C	C	G			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr10:73115968C>G	ENST00000373189.5	+	5	793	c.741C>G	c.(739-741)ctC>ctG	p.L247L	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	247					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						GCATGGGACTCTACCTGCTGC	0.557																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)												0													135.0	96.0	109.0					10																	73115968		2203	4300	6503	SO:0001819	synonymous_variant	55315			AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"""Solute carriers"""	23096	protein-coding gene	gene with protein product		612373	"""solute carrier family 29 (nucleoside transporters), member 3"""			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.741C>G	10.37:g.73115968C>G			B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Silent	SNP	pfam_Eqnu_transpt,prints_Eqnu_transpt	p.L247	ENST00000373189.5	37	c.741	CCDS7310.1	10																																																																																			SLC29A3	-	pfam_Eqnu_transpt,prints_Eqnu_transpt		0.557	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A3	HGNC	protein_coding	OTTHUMT00000048544.1	C	NM_018344		73115968	+1	no_errors	ENST00000373189	ensembl	human	known	70_37	silent	SNP	0.924	G
SMC6	79677	genome.wustl.edu	37	2	17897485	17897485	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr2:17897485G>A	ENST00000448223.2	-	15	1662	c.1393C>T	c.(1393-1395)Caa>Taa	p.Q465*	SMC6_ENST00000351948.4_Nonsense_Mutation_p.Q465*|SMC6_ENST00000381272.4_Nonsense_Mutation_p.Q491*|SMC6_ENST00000402989.1_Nonsense_Mutation_p.Q465*	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	465	Flexible hinge.				cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCTTTCAGTTGCCTCTGATTG	0.358																																																	0													154.0	155.0	154.0					2																	17897485		2203	4300	6503	SO:0001587	stop_gained	79677			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1393C>T	2.37:g.17897485G>A	ENSP00000404092:p.Gln465*		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Nonsense_Mutation	SNP	NULL	p.Q491*	ENST00000448223.2	37	c.1471	CCDS1690.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.296224	0.98192	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	.	.	.	5.62	5.62	0.85841	.	0.418838	0.29314	N	0.012509	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	19.6717	0.95914	0.0:0.0:1.0:0.0	.	.	.	.	X	465;465;491;465;491	.	ENSP00000323439:Q465X	Q	-	1	0	SMC6	17760966	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	3.847000	0.55895	2.649000	0.89929	0.555000	0.69702	CAA	SMC6	-	NULL		0.358	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC6	HGNC	protein_coding	OTTHUMT00000207359.1	G	NM_024624		17897485	-1	no_errors	ENST00000381272	ensembl	human	known	70_37	nonsense	SNP	0.992	A
SND1	27044	genome.wustl.edu	37	7	127725781	127725781	+	Silent	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr7:127725781G>A	ENST00000354725.3	+	20	2447	c.2253G>A	c.(2251-2253)gaG>gaA	p.E751E		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	751	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCCGAGTAGAGAAAGTCGAGT	0.567																																																	0													188.0	168.0	175.0					7																	127725781		2203	4300	6503	SO:0001819	synonymous_variant	27044				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.2253G>A	7.37:g.127725781G>A			Q13122|Q96AG0	Silent	SNP	pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease	p.E751	ENST00000354725.3	37	c.2253	CCDS34747.1	7																																																																																			SND1	-	pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor		0.567	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	HGNC	protein_coding	OTTHUMT00000349148.1	G	NM_014390		127725781	+1	no_errors	ENST00000354725	ensembl	human	known	70_37	silent	SNP	1.000	A
SNHG14	104472715	genome.wustl.edu	37	15	25481240	25481240	+	RNA	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr15:25481240G>A	ENST00000453082.2	+	0	1934				SNORD115-35_ENST00000365122.1_RNA|SNORD115-37_ENST00000363768.1_RNA|SNORD115-36_ENST00000365629.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		TTGGGTCAATGATGAGAACCT	0.488																																																	0													324.0	340.0	335.0					15																	25481240		876	1991	2867			100033810					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25481240G>A				RNA	SNP	-	NULL	ENST00000453082.2	37	NULL		15																																																																																			SNORD115-36	-	-		0.488	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	SNORD115-36	HGNC	processed_transcript	OTTHUMT00000126730.2	G			25481240	+1	no_errors	ENST00000365629	ensembl	human	known	70_37	rna	SNP	0.888	A
SPIN1	10927	genome.wustl.edu	37	9	91090483	91090483	+	3'UTR	SNP	C	C	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr9:91090483C>A	ENST00000375859.3	+	0	1358				SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_3'UTR	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1						chromatin modification (GO:0016568)|gamete generation (GO:0007276)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of Wnt signaling pathway (GO:0030177)|rRNA transcription (GO:0009303)|Wnt signaling pathway (GO:0016055)	nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle (GO:0005819)	methylated histone binding (GO:0035064)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						TGTAATAGATCTTAACCATTT	0.363																																																	0																																										SO:0001624	3_prime_UTR_variant	10927			AF317228	CCDS43843.1	9q22.1	2008-02-05	2007-01-03	2007-01-03	ENSG00000106723	ENSG00000106723			11243	protein-coding gene	gene with protein product		609936	"""spindlin"""	SPIN		16098913	Standard	NM_006717		Approved		uc004apy.3	Q9Y657	OTTHUMG00000020168	ENST00000375859.3:c.*291C>A	9.37:g.91090483C>A			A8K0X6|B3KRQ4|Q7KZJ8|Q9GZT2|Q9H0N7	RNA	SNP	-	NULL	ENST00000375859.3	37	NULL	CCDS43843.1	9																																																																																			SPIN1	-	-		0.363	SPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIN1	HGNC	protein_coding	OTTHUMT00000052967.1	C	NM_006717		91090483	+1	no_errors	ENST00000469017	ensembl	human	known	70_37	rna	SNP	0.021	A
SPTY2D1	144108	genome.wustl.edu	37	11	18636757	18636757	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr11:18636757G>A	ENST00000336349.5	-	3	1299	c.1064C>T	c.(1063-1065)cCc>cTc	p.P355L	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	355	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						GGTGACCATGGGCCCAGGCCT	0.567																																																	0													111.0	121.0	118.0					11																	18636757		2199	4293	6492	SO:0001583	missense	144108			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1064C>T	11.37:g.18636757G>A	ENSP00000337991:p.Pro355Leu		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	pfam_Chromatin_SPT2,smart_Chromatin_SPT2	p.P355L	ENST00000336349.5	37	c.1064	CCDS31441.1	11	.	.	.	.	.	.	.	.	.	.	G	11.05	1.523705	0.27299	.	.	ENSG00000179119	ENST00000336349	T	0.26957	1.7	5.84	3.96	0.45880	.	0.807432	0.11535	N	0.554335	T	0.17874	0.0429	L	0.32530	0.975	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.15178	-1.0446	10	0.33940	T	0.23	0.0012	5.2361	0.15446	0.2262:0.0:0.5961:0.1777	.	355	Q68D10	SPT2_HUMAN	L	355	ENSP00000337991:P355L	ENSP00000337991:P355L	P	-	2	0	SPTY2D1	18593333	0.000000	0.05858	0.079000	0.20413	0.353000	0.29299	0.066000	0.14489	1.470000	0.48102	0.563000	0.77884	CCC	SPTY2D1	-	NULL		0.567	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTY2D1	HGNC	protein_coding	OTTHUMT00000395941.1	G	NM_194285		18636757	-1	no_errors	ENST00000336349	ensembl	human	known	70_37	missense	SNP	0.001	A
SULT1A2	6799	genome.wustl.edu	37	16	28606788	28606788	+	Intron	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr16:28606788G>A	ENST00000395630.1	-	4	625				SULT1A2_ENST00000335715.4_Intron|SULT1A2_ENST00000533150.1_Silent_p.L119L	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2						3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						CTCCATCCCTGAGCAGTGGGT	0.597																																																	0													118.0	113.0	115.0					16																	28606788		2197	4300	6497	SO:0001627	intron_variant	6799			U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"""Sulfotransferases, cytosolic"""	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.275-3C>T	16.37:g.28606788G>A			A9QY25|P78393|Q14CJ7	Silent	SNP	pfam_Sulfotransferase_dom	p.L119	ENST00000395630.1	37	c.357	CCDS10636.1	16																																																																																			SULT1A2	-	NULL		0.597	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1A2	HGNC	protein_coding	OTTHUMT00000109415.2	G	NM_001054		28606788	-1	no_errors	ENST00000534108	ensembl	human	known	70_37	silent	SNP	0.080	A
SYCP3	50511	genome.wustl.edu	37	12	102131031	102131031	+	Missense_Mutation	SNP	G	G	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr12:102131031G>T	ENST00000392927.3	-	3	310	c.179C>A	c.(178-180)gCa>gAa	p.A60E	SYCP3_ENST00000266743.2_Missense_Mutation_p.A60E|SYCP3_ENST00000392924.1_Missense_Mutation_p.A60E	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	60					male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						AACTACTCCTGCAGAAGACCT	0.294																																																	0													125.0	136.0	132.0					12																	102131031		2202	4300	6502	SO:0001583	missense	50511			AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.179C>A	12.37:g.102131031G>T	ENSP00000376658:p.Ala60Glu			Missense_Mutation	SNP	pfam_Cor1/Xlr/Xmr	p.A60E	ENST00000392927.3	37	c.179	CCDS9087.1	12	.	.	.	.	.	.	.	.	.	.	G	6.910	0.537433	0.13188	.	.	ENSG00000139351	ENST00000266743;ENST00000392927;ENST00000392924	.	.	.	5.5	2.41	0.29592	.	1.710450	0.02557	N	0.096302	T	0.40145	0.1105	L	0.43152	1.355	0.09310	N	1	B	0.18863	0.031	B	0.11329	0.006	T	0.30179	-0.9987	9	0.05525	T	0.97	0.3069	10.843	0.46726	0.0:0.2655:0.597:0.1375	.	60	Q8IZU3	SYCP3_HUMAN	E	60	.	ENSP00000266743:A60E	A	-	2	0	SYCP3	100655162	0.001000	0.12720	0.001000	0.08648	0.396000	0.30629	0.233000	0.17911	0.626000	0.30322	0.557000	0.71058	GCA	SYCP3	-	NULL		0.294	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	SYCP3	HGNC	protein_coding	OTTHUMT00000316478.2	G	NM_153694		102131031	-1	no_errors	ENST00000266743	ensembl	human	known	70_37	missense	SNP	0.002	T
SYNE2	23224	genome.wustl.edu	37	14	64463825	64463825	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr14:64463825C>G	ENST00000344113.4	+	24	3313	c.3101C>G	c.(3100-3102)tCc>tGc	p.S1034C	SYNE2_ENST00000358025.3_Missense_Mutation_p.S1034C|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.S1034C	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1034					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAATGTGCTTCCGAGATTCAT	0.428																																																	0													61.0	58.0	59.0					14																	64463825		1901	4122	6023	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.3101C>G	14.37:g.64463825C>G	ENSP00000341781:p.Ser1034Cys		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S1034C	ENST00000344113.4	37	c.3101	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895222	0.33442	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.60171	0.55;0.56;0.21	5.15	5.15	0.70609	.	0.419012	0.20250	N	0.096107	T	0.63920	0.2552	L	0.44542	1.39	0.80722	D	1	D;D	0.59767	0.977;0.986	P;P	0.55999	0.62;0.789	T	0.66252	-0.5970	10	0.72032	D	0.01	.	14.4917	0.67654	0.0:1.0:0.0:0.0	.	1034;1034	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	C	1034	ENSP00000350719:S1034C;ENSP00000341781:S1034C;ENSP00000452570:S1034C	ENSP00000261678:S1034C	S	+	2	0	SYNE2	63533578	0.038000	0.19896	0.202000	0.23494	0.660000	0.38997	2.862000	0.48388	2.555000	0.86185	0.563000	0.77884	TCC	SYNE2	-	NULL		0.428	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	C	NM_182914		64463825	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	0.374	G
TGFBI	7045	genome.wustl.edu	37	5	135382984	135382984	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr5:135382984C>T	ENST00000442011.2	+	6	807	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	TGFBI_ENST00000305126.8_Missense_Mutation_p.R216W	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	216	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAACTGTGCCCGGCTGCTGAA	0.527																																																	0													110.0	107.0	108.0					5																	135382984		2068	4212	6280	SO:0001583	missense	7045			M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.646C>T	5.37:g.135382984C>T	ENSP00000416330:p.Arg216Trp		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.R216W	ENST00000442011.2	37	c.646	CCDS47266.1	5	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974531	0.74246	.	.	ENSG00000120708	ENST00000442011;ENST00000305126	D;D	0.91521	-2.86;-2.86	6.04	6.04	0.98038	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.95614	0.8574	M	0.87827	2.91	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.95650	0.8706	10	0.87932	D	0	-5.3662	13.4451	0.61136	0.2562:0.7438:0.0:0.0	.	216	Q15582	BGH3_HUMAN	W	216	ENSP00000416330:R216W;ENSP00000306306:R216W	ENSP00000306306:R216W	R	+	1	2	TGFBI	135410883	0.959000	0.32827	0.994000	0.49952	0.854000	0.48673	2.070000	0.41491	2.873000	0.98535	0.561000	0.74099	CGG	TGFBI	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain		0.527	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBI	HGNC	protein_coding	OTTHUMT00000372108.1	C			135382984	+1	no_errors	ENST00000305126	ensembl	human	known	70_37	missense	SNP	0.934	T
TGFBR2	7048	genome.wustl.edu	37	3	30715678	30715678	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr3:30715678G>A	ENST00000295754.5	+	5	1718	c.1336G>A	c.(1336-1338)Gat>Aat	p.D446N	TGFBR2_ENST00000359013.4_Missense_Mutation_p.D471N	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	446	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> N (in LDS2). {ECO:0000269|PubMed:16251899}.		activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.D446N(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CAAGCAGACCGATGTCTACTC	0.473																																																	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	GRCh37	CM060085|CM086981	TGFBR2	M							158.0	136.0	143.0					3																	30715678		2203	4300	6503	SO:0001583	missense	7048				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1336G>A	3.37:g.30715678G>A	ENSP00000295754:p.Asp446Asn		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Transform_growth_fac-b_typ-2,prints_Activin_II/TGFBeta-II_recpt,pfscan_Prot_kinase_cat_dom	p.D471N	ENST00000295754.5	37	c.1411	CCDS2648.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.893827	0.97074	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.99394	-5.82;-5.82	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99704	0.9887	H	0.97758	4.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97577	1.0108	10	0.87932	D	0	.	20.547	0.99278	0.0:0.0:1.0:0.0	.	446;471	P37173;D2JYI1	TGFR2_HUMAN;.	N	446;471;276	ENSP00000295754:D446N;ENSP00000351905:D471N	ENSP00000295754:D446N	D	+	1	0	TGFBR2	30690682	1.000000	0.71417	0.970000	0.41538	0.993000	0.82548	9.869000	0.99810	2.850000	0.98022	0.650000	0.86243	GAT	TGFBR2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Transform_growth_fac-b_typ-2,pfscan_Prot_kinase_cat_dom		0.473	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2	G			30715678	+1	no_errors	ENST00000359013	ensembl	human	known	70_37	missense	SNP	1.000	A
TIPIN	54962	genome.wustl.edu	37	15	66671709	66671709	+	5'UTR	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr15:66671709G>A	ENST00000561773.1	-	0	627							Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein						cell cycle phase transition (GO:0044770)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|regulation of nuclear cell cycle DNA replication (GO:0033262)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						TCCTTTTTCAGAGACATAGAT	0.373																																																	0																																										SO:0001623	5_prime_UTR_variant	54962			BK001386	CCDS10215.1	15q22.31	2012-03-02	2006-08-08		ENSG00000075131	ENSG00000075131			30750	protein-coding gene	gene with protein product	"""CSM3 homolog (S. cerevisiae)"""	610716				12875843, 17102137	Standard	NM_017858		Approved	FLJ20516	uc002apr.2	Q9BVW5	OTTHUMG00000133188	ENST00000561773.1:c.-102C>T	15.37:g.66671709G>A			B2CW64|Q9NWZ6	RNA	SNP	-	NULL	ENST00000561773.1	37	NULL		15																																																																																			TIPIN	-	-		0.373	TIPIN-006	KNOWN	mRNA_end_NF|basic	processed_transcript	TIPIN	HGNC	protein_coding	OTTHUMT00000420721.1	G	NM_017858		66671709	-1	no_errors	ENST00000561773	ensembl	human	known	70_37	rna	SNP	1.000	A
TPP2	7174	genome.wustl.edu	37	13	103257239	103257239	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr13:103257239G>A	ENST00000376065.4	+	2	298	c.262G>A	c.(262-264)Gag>Aag	p.E88K	TPP2_ENST00000376052.3_Missense_Mutation_p.E88K	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	88	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAAGGATGGTGAGATTGTTGG	0.368																																																	0													240.0	225.0	230.0					13																	103257239		2203	4300	6503	SO:0001583	missense	7174			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.262G>A	13.37:g.103257239G>A	ENSP00000365233:p.Glu88Lys		Q5VZU8	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel	p.E88K	ENST00000376065.4	37	c.262	CCDS9502.1	13	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156755	0.38119	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.91	5.91	0.95273	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.155964	0.64402	D	0.000018	T	0.50939	0.1645	L	0.48642	1.525	0.40875	D	0.983947	P	0.35226	0.491	B	0.28916	0.096	T	0.47623	-0.9103	9	0.19147	T	0.46	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	88	P29144	TPP2_HUMAN	K	88	.	ENSP00000365220:E88K	E	+	1	0	TPP2	102055240	1.000000	0.71417	0.977000	0.42913	0.229000	0.25112	5.329000	0.65892	2.793000	0.96121	0.655000	0.94253	GAG	TPP2	-	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53		0.368	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP2	HGNC	protein_coding	OTTHUMT00000045683.2	G			103257239	+1	no_errors	ENST00000376065	ensembl	human	known	70_37	missense	SNP	1.000	A
TRAPPC10	7109	genome.wustl.edu	37	21	45499971	45499971	+	Silent	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr21:45499971G>A	ENST00000291574.4	+	13	1861	c.1686G>A	c.(1684-1686)gaG>gaA	p.E562E		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	562					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TCTGCCAGGAGATACTTGACT	0.493																																																	0													62.0	52.0	56.0					21																	45499971		2203	4300	6503	SO:0001819	synonymous_variant	7109			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.1686G>A	21.37:g.45499971G>A			Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Silent	SNP	NULL	p.E562	ENST00000291574.4	37	c.1686	CCDS13704.1	21																																																																																			TRAPPC10	-	NULL		0.493	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TRAPPC10	HGNC	protein_coding	OTTHUMT00000195737.1	G	NM_003274		45499971	+1	no_errors	ENST00000291574	ensembl	human	known	70_37	silent	SNP	1.000	A
TRIM21	6737	genome.wustl.edu	37	11	4406540	4406540	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr11:4406540delC	ENST00000254436.7	-	7	1515	c.1403delG	c.(1402-1404)ggafs	p.G468fs	TRIM21_ENST00000543625.1_Frame_Shift_Del_p.G468fs	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	468					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		TCCTTGTGATCCAATATTCAG	0.512																																																	0													78.0	77.0	77.0					11																	4406540		2001	4166	6167	SO:0001589	frameshift_variant	6737			AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.1403delG	11.37:g.4406540delC	ENSP00000254436:p.Gly468fs		Q5XPV5|Q96RF8	Frame_Shift_Del	DEL	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Ubox_domain,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.G468fs	ENST00000254436.7	37	c.1403	CCDS44525.1	11																																																																																			TRIM21	-	NULL		0.512	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM21	HGNC	protein_coding	OTTHUMT00000385842.1	C	NM_003141		4406540	-1	no_errors	ENST00000254436	ensembl	human	known	70_37	frame_shift_del	DEL	0.000	-
TSPEAR	54084	genome.wustl.edu	37	21	45953680	45953680	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr21:45953680G>A	ENST00000323084.4	-	3	495	c.430C>T	c.(430-432)Cga>Tga	p.R144*	TSPEAR_ENST00000397916.1_Nonsense_Mutation_p.R76*	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	144	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						AAGGACACTCGGGTCTGCCAG	0.692																																																	0													30.0	31.0	30.0					21																	45953680		2197	4288	6485	SO:0001587	stop_gained	54084			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.430C>T	21.37:g.45953680G>A	ENSP00000321987:p.Arg144*			Nonsense_Mutation	SNP	pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.R144*	ENST00000323084.4	37	c.430	CCDS13712.1	21	.	.	.	.	.	.	.	.	.	.	g	25.7	4.664979	0.88251	.	.	ENSG00000175894	ENST00000323084;ENST00000397916;ENST00000341581	.	.	.	4.9	4.9	0.64082	.	0.266911	0.35739	N	0.003002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.4229	13.0983	0.59206	0.0:0.0:0.8395:0.1605	.	.	.	.	X	144;76;144	.	ENSP00000321987:R144X	R	-	1	2	TSPEAR	44778108	1.000000	0.71417	0.751000	0.31187	0.350000	0.29205	2.326000	0.43849	2.254000	0.74563	0.650000	0.86243	CGA	TSPEAR	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.692	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	HGNC	protein_coding	OTTHUMT00000098761.1	G	NM_144991		45953680	-1	no_errors	ENST00000323084	ensembl	human	known	70_37	nonsense	SNP	0.101	A
TTN	7273	genome.wustl.edu	37	2	179456782	179456782	+	Missense_Mutation	SNP	C	C	T	rs374914334		TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr2:179456782C>T	ENST00000591111.1	-	252	55150	c.54926G>A	c.(54925-54927)cGa>cAa	p.R18309Q	TTN_ENST00000342175.6_Missense_Mutation_p.R11077Q|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R17382Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11010Q|TTN_ENST00000589042.1_Missense_Mutation_p.R19950Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R10885Q|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18309	Fibronectin type-III 32. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGCAGCTACTCGGAAGAGGTA	0.473																																																	0								C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	3,3809		0,3,1903	76.0	74.0	74.0		32654,52145,33029,33230	6.0	1.0	2		74	0,8260		0,0,4130	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	43,43,43,43	0,3,6033	TT,TC,CC		0.0,0.0787,0.0249	probably-damaging,probably-damaging,probably-damaging,probably-damaging	10885/26927,17382/33424,11010/27052,11077/27119	179456782	3,12069	1906	4130	6036	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.54926G>A	2.37:g.179456782C>T	ENSP00000465570:p.Arg18309Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R17382Q	ENST00000591111.1	37	c.52145		2	.	.	.	.	.	.	.	.	.	.	C	14.39	2.522178	0.44866	7.87E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79587	0.4471	M	0.83312	2.635	0.53005	D	0.999964	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.70227	0.943;0.943;0.943;0.968	T	0.80723	-0.1255	9	0.87932	D	0	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	10885;11010;11077;18309	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	17382;10885;11077;11010;10883	ENSP00000343764:R17382Q;ENSP00000434586:R10885Q;ENSP00000340554:R11077Q;ENSP00000352154:R11010Q	ENSP00000340554:R11077Q	R	-	2	0	TTN	179165028	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.954000	0.70298	2.868000	0.98415	0.557000	0.71058	CGA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.473	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179456782	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TXN2	25828	genome.wustl.edu	37	22	36863839	36863839	+	3'UTR	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr22:36863839C>T	ENST00000216185.2	-	0	979				TXN2_ENST00000403313.1_3'UTR|TXN2_ENST00000416967.1_3'UTR|TXN2_ENST00000487725.1_5'UTR			Q99757	THIOM_HUMAN	thioredoxin 2						cell redox homeostasis (GO:0045454)|cellular response to nutrient levels (GO:0031669)|glycerol ether metabolic process (GO:0006662)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)	dendrite (GO:0030425)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)	protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|lung(1)|prostate(1)	3						AACCAGGACTCATCCCTGCTT	0.587																																																	0													111.0	80.0	91.0					22																	36863839		2203	4300	6503	SO:0001624	3_prime_UTR_variant	25828			U78678	CCDS13928.1	22q13.1	2008-06-11			ENSG00000100348	ENSG00000100348			17772	protein-coding gene	gene with protein product		609063				9006939, 17220299	Standard	NM_012473		Approved	MT-TRX	uc003apk.1	Q99757	OTTHUMG00000150596	ENST00000216185.2:c.*12G>A	22.37:g.36863839C>T			Q5JZA0|Q6FH60|Q9UH29	RNA	SNP	-	NULL	ENST00000216185.2	37	NULL	CCDS13928.1	22																																																																																			TXN2	-	-		0.587	TXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXN2	HGNC	protein_coding	OTTHUMT00000319016.1	C	NM_012473		36863839	-1	no_errors	ENST00000487725	ensembl	human	known	70_37	rna	SNP	0.000	T
UBA1	7317	genome.wustl.edu	37	X	47060913	47060913	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chrX:47060913C>T	ENST00000335972.6	+	8	898	c.715C>T	c.(715-717)Cga>Tga	p.R239*	UBA1_ENST00000377351.4_Nonsense_Mutation_p.R239*	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	239	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGATGAGGCCCGACACGGGTT	0.537																																																	0													37.0	32.0	34.0					X																	47060913		2203	4300	6503	SO:0001587	stop_gained	7317			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.715C>T	X.37:g.47060913C>T	ENSP00000338413:p.Arg239*		Q5JRR8|Q96E13	Nonsense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.R239*	ENST00000335972.6	37	c.715	CCDS14275.1	X	.	.	.	.	.	.	.	.	.	.	C	36	5.850572	0.97023	.	.	ENSG00000130985	ENST00000377351;ENST00000412206;ENST00000442035;ENST00000335972	.	.	.	4.74	3.85	0.44370	.	0.000000	0.49305	D	0.000150	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5953	10.886	0.46968	0.3376:0.6624:0.0:0.0	.	.	.	.	X	239;239;253;239	.	ENSP00000338413:R239X	R	+	1	2	UBA1	46945857	0.377000	0.25106	1.000000	0.80357	0.939000	0.58152	0.997000	0.29731	1.071000	0.40834	0.509000	0.49947	CGA	UBA1	-	superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1		0.537	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA1	HGNC	protein_coding	OTTHUMT00000056389.1	C	NM_003334		47060913	+1	no_errors	ENST00000335972	ensembl	human	known	70_37	nonsense	SNP	1.000	T
UBE2Z	65264	genome.wustl.edu	37	17	46998528	46998528	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr17:46998528C>T	ENST00000360943.5	+	5	832	c.697C>T	c.(697-699)Cat>Tat	p.H233Y		NM_023079.4	NP_075567.2	Q9H832	UBE2Z_HUMAN	ubiquitin-conjugating enzyme E2Z	233					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)										ATAGGAGAGACATCCAGGAGA	0.428																																																	0													82.0	68.0	73.0					17																	46998528		2203	4300	6503	SO:0001583	missense	65264			BC015890	CCDS11540.2	17q21.32	2010-01-14	2007-07-18		ENSG00000159202	ENSG00000159202		"""Ubiquitin-conjugating enzymes E2"""	25847	protein-coding gene	gene with protein product	"""UBA6-specific enzyme E2"""	611362				17597759	Standard	NM_023079		Approved	FLJ13855, USE1	uc002ioi.3	Q9H832	OTTHUMG00000150521	ENST00000360943.5:c.697C>T	17.37:g.46998528C>T	ENSP00000354201:p.His233Tyr		A6N8M6|A6NC60|Q7L354|Q8TCM4|Q9H893	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.H233Y	ENST00000360943.5	37	c.697	CCDS11540.2	17	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570470	0.65765	.	.	ENSG00000159202	ENST00000360943;ENST00000405215;ENST00000508468	T;T	0.71461	-0.57;-0.57	4.98	4.98	0.66077	Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.36110	0.0955	N	0.00569	-1.365	0.58432	D	0.999999	P	0.34934	0.476	B	0.29176	0.099	T	0.50516	-0.8819	10	0.17369	T	0.5	-16.242	16.5514	0.84473	0.0:1.0:0.0:0.0	.	233	Q9H832	UBE2Z_HUMAN	Y	233;166;146	ENSP00000354201:H233Y;ENSP00000424543:H146Y	ENSP00000354201:H233Y	H	+	1	0	UBE2Z	44353527	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.535000	0.82014	2.745000	0.94114	0.655000	0.94253	CAT	UBE2Z	-	superfamily_UBQ-conjugating_enzyme/RWD		0.428	UBE2Z-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Z	HGNC	protein_coding	OTTHUMT00000318724.2	C	NM_023079		46998528	+1	no_errors	ENST00000360943	ensembl	human	known	70_37	missense	SNP	1.000	T
UBR5	51366	genome.wustl.edu	37	8	103335715	103335715	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr8:103335715C>G	ENST00000520539.1	-	14	2214	c.1608G>C	c.(1606-1608)ttG>ttC	p.L536F	UBR5_ENST00000521922.1_Missense_Mutation_p.L530F|UBR5_ENST00000220959.4_Missense_Mutation_p.L536F	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	536					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GATTATTTCTCAAGCATACCT	0.303																																					Ovarian(131;96 1741 5634 7352 27489)												0													55.0	49.0	51.0					8																	103335715		2203	4300	6503	SO:0001583	missense	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1608G>C	8.37:g.103335715C>G	ENSP00000429084:p.Leu536Phe		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.L536F	ENST00000520539.1	37	c.1608	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	C	16.02	3.005084	0.54254	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.53206	0.63;0.63;0.63	5.78	2.06	0.26882	.	0.000000	0.64402	D	0.000001	T	0.42743	0.1216	L	0.33485	1.01	0.51012	D	0.999907	D;D	0.54207	0.965;0.965	P;P	0.51016	0.656;0.656	T	0.13683	-1.0500	10	0.40728	T	0.16	.	9.2968	0.37819	0.0:0.2115:0.0:0.7885	.	530;536	E7EMW7;O95071	.;UBR5_HUMAN	F	536;536;530	ENSP00000429084:L536F;ENSP00000220959:L536F;ENSP00000427819:L530F	ENSP00000220959:L536F	L	-	3	2	UBR5	103404891	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	1.588000	0.36633	0.110000	0.17919	-0.469000	0.05056	TTG	UBR5	-	NULL		0.303	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	C	NM_015902		103335715	-1	no_errors	ENST00000520539	ensembl	human	known	70_37	missense	SNP	1.000	G
WDR90	197335	genome.wustl.edu	37	16	709007	709007	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr16:709007G>A	ENST00000293879.4	+	24	3007	c.3007G>A	c.(3007-3009)Gag>Aag	p.E1003K	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Missense_Mutation_p.E1003K			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1003										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGCCCCTACTGAGAGGCAAGT	0.657																																																	0													79.0	97.0	91.0					16																	709007		2097	4212	6309	SO:0001583	missense	197335			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.3007G>A	16.37:g.709007G>A	ENSP00000293879:p.Glu1003Lys		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1003K	ENST00000293879.4	37	c.3007	CCDS42092.1	16	.	.	.	.	.	.	.	.	.	.	G	7.478	0.647997	0.14516	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.28454	1.61;3.65	4.79	2.8	0.32819	.	8.188700	0.01542	U	0.019280	T	0.41282	0.1152	L	0.53729	1.69	0.21290	N	0.999735	D;P	0.60575	0.988;0.546	P;B	0.53861	0.736;0.147	T	0.14364	-1.0475	10	0.17832	T	0.49	.	5.7983	0.18399	0.0779:0.1367:0.6441:0.1413	.	1003;1003	F8VUX9;Q96KV7	.;WDR90_HUMAN	K	1003	ENSP00000448122:E1003K;ENSP00000293879:E1003K	ENSP00000293879:E1003K	E	+	1	0	WDR90	649008	.	.	0.010000	0.14722	0.003000	0.03518	.	.	0.433000	0.26313	-0.895000	0.02911	GAG	WDR90	-	NULL		0.657	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR90	HGNC	protein_coding	OTTHUMT00000404335.1	G	NM_145294		709007	+1	no_errors	ENST00000549091	ensembl	human	novel	70_37	missense	SNP	0.108	A
WLS	79971	genome.wustl.edu	37	1	68591956	68591956	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr1:68591956C>T	ENST00000262348.4	-	12	1832	c.1579G>A	c.(1579-1581)Gga>Aga	p.G527R	GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000354777.2_Intron|WLS_ENST00000540432.1_Intron|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000370976.3_Missense_Mutation_p.G436R	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	527					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						TCAGTGGGTCCGTCCACATGG	0.577																																																	0													111.0	96.0	101.0					1																	68591956		2203	4300	6503	SO:0001583	missense	79971			BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.1579G>A	1.37:g.68591956C>T	ENSP00000262348:p.Gly527Arg		B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Missense_Mutation	SNP	NULL	p.G527R	ENST00000262348.4	37	c.1579	CCDS642.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.099136	0.94197	.	.	ENSG00000116729	ENST00000262348;ENST00000370976	T;T	0.47177	0.86;0.85	6.16	6.16	0.99307	.	.	.	.	.	T	0.49490	0.1560	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	0.987;1.0	P;D	0.91635	0.534;0.999	T	0.50338	-0.8840	9	0.49607	T	0.09	.	19.6313	0.95704	0.0:1.0:0.0:0.0	.	436;527	Q5JRS7;Q5T9L3	.;WLS_HUMAN	R	527;436	ENSP00000262348:G527R;ENSP00000360015:G436R	ENSP00000262348:G527R	G	-	1	0	WLS	68364544	1.000000	0.71417	0.973000	0.42090	0.973000	0.67179	5.345000	0.65987	2.937000	0.99478	0.650000	0.86243	GGA	WLS	-	NULL		0.577	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WLS	HGNC	protein_coding	OTTHUMT00000025368.1	C	NM_024911		68591956	-1	no_errors	ENST00000262348	ensembl	human	known	70_37	missense	SNP	1.000	T
XIRP2	129446	genome.wustl.edu	37	2	168115287	168115287	+	Missense_Mutation	SNP	C	C	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr2:168115287C>A	ENST00000409728.1	+	11	2419	c.2330C>A	c.(2329-2331)gCa>gAa	p.A777E	XIRP2_ENST00000409605.1_Missense_Mutation_p.A522E|XIRP2_ENST00000409043.1_Missense_Mutation_p.A744E|XIRP2_ENST00000409756.2_Missense_Mutation_p.A744E|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.A777E|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409195.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATGACACTGCAAATGAATAT	0.323																																																	0													46.0	46.0	46.0					2																	168115287		1826	4074	5900	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2330C>A	2.37:g.168115287C>A	ENSP00000386619:p.Ala777Glu		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.A777E	ENST00000409728.1	37	c.2330	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475761	0.26511	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;T	0.80909	-1.4;-1.41;-1.4;-1.41;-1.43	5.67	4.74	0.60224	.	.	.	.	.	T	0.79793	0.4507	.	.	.	0.52501	D	0.999959	P;P	0.52316	0.952;0.952	P;P	0.49301	0.606;0.606	T	0.77341	-0.2624	8	0.33940	T	0.23	.	11.0427	0.47840	0.1425:0.7199:0.1376:0.0	.	744;777	A4UGR9-4;A4UGR9-6	.;.	E	744;777;744;777;522	ENSP00000386454:A744E;ENSP00000386619:A777E;ENSP00000386724:A744E;ENSP00000415541:A777E;ENSP00000386981:A522E	ENSP00000386454:A744E	A	+	2	0	XIRP2	167823533	0.007000	0.16637	0.997000	0.53966	0.424000	0.31475	0.408000	0.21065	2.681000	0.91329	0.561000	0.74099	GCA	XIRP2	-	NULL		0.323	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	C	NM_152381		168115287	+1	no_errors	ENST00000420519	ensembl	human	known	70_37	missense	SNP	0.568	A
XIST	7503	genome.wustl.edu	37	X	73071972	73071972	+	lincRNA	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chrX:73071972G>A	ENST00000429829.1	-	0	616					NR_001564.2				X inactive specific transcript (non-protein coding)																		CCGAAGCCCCGATGGGCCAAA	0.483																																																	0													12.0	13.0	13.0					X																	73071972		874	1985	2859			7503			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.73071972G>A				RNA	SNP	-	NULL	ENST00000429829.1	37	NULL		X																																																																																			XIST	-	-		0.483	XIST-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000057239.1	G	NR_001564		73071972	-1	no_errors	ENST00000429829	ensembl	human	known	70_37	rna	SNP	0.994	A
YPEL1	29799	genome.wustl.edu	37	22	22055456	22055456	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr22:22055456C>G	ENST00000339468.3	-	5	705	c.322G>C	c.(322-324)Gag>Cag	p.E108Q		NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)	108				E -> D (in Ref. 6; AAH74501). {ECO:0000305}.		nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					TGAGCAAGCTCAATGATGAAT	0.388																																																	0													136.0	115.0	122.0					22																	22055456		2203	4300	6503	SO:0001583	missense	29799			AF060862	CCDS13794.1	22q11.2	2008-02-04	2001-11-28		ENSG00000100027	ENSG00000100027			12845	protein-coding gene	gene with protein product		608082	"""yippee (Drosophila) homolog-like 1"""			11473580	Standard	NM_013313		Approved		uc002zvl.3	O60688	OTTHUMG00000150830	ENST00000339468.3:c.322G>C	22.37:g.22055456C>G	ENSP00000342832:p.Glu108Gln		Q65ZA1|Q6GLI6	Missense_Mutation	SNP	pfam_Yippee	p.E108Q	ENST00000339468.3	37	c.322	CCDS13794.1	22	.	.	.	.	.	.	.	.	.	.	C	33	5.290872	0.95546	.	.	ENSG00000100027	ENST00000339468	.	.	.	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	D	0.86719	0.6000	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89646	0.3866	9	0.72032	D	0.01	.	18.8981	0.92432	0.0:1.0:0.0:0.0	.	108	O60688	YPEL1_HUMAN	Q	108	.	ENSP00000342832:E108Q	E	-	1	0	YPEL1	20385456	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.650000	0.83521	2.880000	0.98712	0.650000	0.86243	GAG	YPEL1	-	pfam_Yippee		0.388	YPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YPEL1	HGNC	protein_coding	OTTHUMT00000320245.1	C	NM_013313		22055456	-1	no_errors	ENST00000339468	ensembl	human	known	70_37	missense	SNP	1.000	G
ZAN	7455	genome.wustl.edu	37	7	100344303	100344303	+	RNA	SNP	C	C	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr7:100344303C>T	ENST00000348028.3	+	0	1074				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_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)				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)			GTGCAGCCCTCCACATTTATG	0.562																																																	0													132.0	135.0	134.0					7																	100344303		1936	4148	6084			7455			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.100344303C>T			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.L303	ENST00000348028.3	37	c.909		7																																																																																			ZAN	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.562	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	C	NM_003386		100344303	+1	no_errors	ENST00000546292	ensembl	human	known	70_37	silent	SNP	0.001	T
ZNF711	7552	genome.wustl.edu	37	X	84502592	84502592	+	Missense_Mutation	SNP	G	G	T			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chrX:84502592G>T	ENST00000373165.3	+	3	320	c.14G>T	c.(13-15)gGt>gTt	p.G5V	ZNF711_ENST00000360700.4_Missense_Mutation_p.G5V|ZNF711_ENST00000276123.3_Missense_Mutation_p.G5V|ZNF711_ENST00000395402.1_5'UTR	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	5					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GATTCAGGCGGTGGAAGTCTT	0.333																																																	0													141.0	129.0	133.0					X																	84502592		2203	4300	6503	SO:0001583	missense	7552			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.14G>T	X.37:g.84502592G>T	ENSP00000362260:p.Gly5Val		B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G5V	ENST00000373165.3	37	c.14	CCDS35344.1	X	.	.	.	.	.	.	.	.	.	.	g	16.92	3.254558	0.59212	.	.	ENSG00000147180	ENST00000373165;ENST00000276123;ENST00000360700	T;T;T	0.11385	2.78;2.78;2.83	4.37	2.51	0.30379	.	0.224065	0.21469	U	0.074039	T	0.24851	0.0603	L	0.51422	1.61	0.80722	D	1	D;B	0.89917	1.0;0.016	D;B	0.87578	0.998;0.018	T	0.00109	-1.2049	10	0.41790	T	0.15	-0.8789	12.4096	0.55459	0.0:0.0:0.6944:0.3056	.	5;5	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	V	5	ENSP00000362260:G5V;ENSP00000276123:G5V;ENSP00000353922:G5V	ENSP00000276123:G5V	G	+	2	0	ZNF711	84389248	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	5.007000	0.63984	0.229000	0.21039	0.509000	0.49947	GGT	ZNF711	-	NULL		0.333	ZNF711-001	KNOWN	basic|CCDS	protein_coding	ZNF711	HGNC	protein_coding	OTTHUMT00000057388.2	G	NM_021998		84502592	+1	no_errors	ENST00000276123	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF804A	91752	genome.wustl.edu	37	2	185800685	185800685	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A5RQ-01A-11D-A28B-09	TCGA-DS-A5RQ-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e823717-75d0-4121-9743-ba735bd6832f	a5d8e29b-c0c4-4ae6-aa1a-94ddb9f3d410	g.chr2:185800685G>A	ENST00000302277.6	+	4	1156	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	188							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGAAGATCCAGAAAGTGCAAA	0.358																																																	0													65.0	68.0	67.0					2																	185800685		2203	4300	6503	SO:0001583	missense	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.562G>A	2.37:g.185800685G>A	ENSP00000303252:p.Glu188Lys		A7E253|Q6ZN26	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.E188K	ENST00000302277.6	37	c.562	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206515	0.58343	.	.	ENSG00000170396	ENST00000302277	T	0.05925	3.37	5.52	4.62	0.57501	.	0.424440	0.22272	N	0.062248	T	0.08179	0.0204	L	0.45581	1.43	0.31150	N	0.705581	P	0.39282	0.666	B	0.35859	0.212	T	0.01904	-1.1250	10	0.54805	T	0.06	-11.1949	15.3091	0.74016	0.0:0.1404:0.8596:0.0	.	188	Q7Z570	Z804A_HUMAN	K	188	ENSP00000303252:E188K	ENSP00000303252:E188K	E	+	1	0	ZNF804A	185508930	1.000000	0.71417	0.628000	0.29241	0.690000	0.40134	6.734000	0.74801	1.283000	0.44513	0.467000	0.42956	GAA	ZNF804A	-	NULL		0.358	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	G	NM_194250		185800685	+1	no_errors	ENST00000302277	ensembl	human	known	70_37	missense	SNP	0.997	A
