#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ABCG8	64241	genome.wustl.edu	37	2	44079964	44079964	+	Silent	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr2:44079964C>T	ENST00000272286.2	+	6	1011	c.921C>T	c.(919-921)atC>atT	p.I307I		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	307	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TCACAGCCATCGGCTACCCCT	0.592																																																	0													87.0	85.0	86.0					2																	44079964		2203	4300	6503	SO:0001819	synonymous_variant	64241			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.921C>T	2.37:g.44079964C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53QN8	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,pfscan_ABC_transporter-like	p.I307	ENST00000272286.2	37	c.921	CCDS1815.1	2																																																																																			ABCG8	-	pfscan_ABC_transporter-like		0.592	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG8	HGNC	protein_coding	OTTHUMT00000250671.1	C	NM_022437		44079964	+1	no_errors	ENST00000272286	ensembl	human	known	70_37	silent	SNP	0.000	T
ADAMTS16	170690	genome.wustl.edu	37	5	5232548	5232548	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr5:5232548C>T	ENST00000274181.7	+	12	1907	c.1769C>T	c.(1768-1770)tCg>tTg	p.S590L		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	590	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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						GGCCACTGGTCGGACTGGTCT	0.532																																																	0													95.0	111.0	105.0					5																	5232548		2105	4228	6333	SO:0001583	missense	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.1769C>T	5.37:g.5232548C>T	ENSP00000274181:p.Ser590Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	C6G490|Q8IVE2	Missense_Mutation	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.S590L	ENST00000274181.7	37	c.1769	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937384	0.92458	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.60920	0.15	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000002	D	0.83353	0.5236	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69479	0.963;0.964	D	0.89056	0.3459	10	0.87932	D	0	.	17.4795	0.87669	0.0:1.0:0.0:0.0	.	590;590	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	L	590	ENSP00000274181:S590L	ENSP00000274181:S590L	S	+	2	0	ADAMTS16	5285548	1.000000	0.71417	0.971000	0.41717	0.786000	0.44442	7.442000	0.80503	2.418000	0.82041	0.491000	0.48974	TCG	ADAMTS16	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.532	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	C	NM_139056		5232548	+1	no_errors	ENST00000274181	ensembl	human	known	70_37	missense	SNP	1.000	T
ADAMTS16	170690	genome.wustl.edu	37	5	5306632	5306632	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr5:5306632G>A	ENST00000274181.7	+	21	3340	c.3202G>A	c.(3202-3204)Gaa>Aaa	p.E1068K		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1068	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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						TGTGACATGTGAAAGAGGAAC	0.368																																																	0													94.0	92.0	93.0					5																	5306632		1848	4089	5937	SO:0001583	missense	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.3202G>A	5.37:g.5306632G>A	ENSP00000274181:p.Glu1068Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	C6G490|Q8IVE2	Missense_Mutation	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.E1068K	ENST00000274181.7	37	c.3202	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902829	0.52227	.	.	ENSG00000145536	ENST00000274181	T	0.60548	0.18	5.21	4.32	0.51571	.	0.229866	0.37053	N	0.002269	T	0.50309	0.1608	L	0.44542	1.39	0.22500	N	0.999043	B	0.27013	0.166	B	0.28916	0.096	T	0.52079	-0.8623	10	0.87932	D	0	.	11.7066	0.51601	0.0:0.1868:0.8132:0.0	.	1068	Q8TE57	ATS16_HUMAN	K	1068	ENSP00000274181:E1068K	ENSP00000274181:E1068K	E	+	1	0	ADAMTS16	5359632	1.000000	0.71417	0.023000	0.16930	0.958000	0.62258	3.311000	0.51919	1.290000	0.44636	0.561000	0.74099	GAA	ADAMTS16	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.368	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	G	NM_139056		5306632	+1	no_errors	ENST00000274181	ensembl	human	known	70_37	missense	SNP	0.714	A
AEBP1	165	genome.wustl.edu	37	7	44152195	44152195	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr7:44152195G>C	ENST00000223357.3	+	18	2561	c.2256G>C	c.(2254-2256)gaG>gaC	p.E752D	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Missense_Mutation_p.E327D	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	752	Interaction with PTEN. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCTGGATGGAGAAGAACCCCT	0.637																																																	0													47.0	50.0	49.0					7																	44152195		2203	4298	6501	SO:0001583	missense	165			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.2256G>C	7.37:g.44152195G>C	ENSP00000223357:p.Glu752Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.E752D	ENST00000223357.3	37	c.2256	CCDS5476.1	7	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278077	0.23307	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	T;T	0.10763	2.84;2.84	5.08	3.12	0.35913	Peptidase M14, carboxypeptidase A (2);	0.112587	0.64402	D	0.000016	T	0.06872	0.0175	N	0.12887	0.27	0.41420	D	0.987798	B;B	0.21688	0.035;0.059	B;B	0.31495	0.022;0.131	T	0.31364	-0.9946	10	0.42905	T	0.14	-40.3445	7.748	0.28879	0.0759:0.1178:0.6861:0.1203	.	327;752	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	D	752;327	ENSP00000223357:E752D;ENSP00000398878:E327D	ENSP00000223357:E752D	E	+	3	2	AEBP1	44118720	0.975000	0.34042	1.000000	0.80357	0.536000	0.34869	0.093000	0.15086	0.664000	0.31047	-1.579000	0.00862	GAG	AEBP1	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.637	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	HGNC	protein_coding	OTTHUMT00000250993.2	G	NM_001129		44152195	+1	no_errors	ENST00000223357	ensembl	human	known	70_37	missense	SNP	1.000	C
AKAP13	11214	genome.wustl.edu	37	15	86189140	86189140	+	Silent	SNP	C	C	G			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr15:86189140C>G	ENST00000394518.2	+	10	4424	c.4329C>G	c.(4327-4329)ctC>ctG	p.L1443L	AKAP13_ENST00000361243.2_Silent_p.L1443L|RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1443					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ATTCTGACCTCTTTCACTCAC	0.438																																					Melanoma(94;603 1453 3280 32295 32951)												0													166.0	145.0	152.0					15																	86189140		2202	4299	6501	SO:0001819	synonymous_variant	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.4329C>G	15.37:g.86189140C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.L1443	ENST00000394518.2	37	c.4329	CCDS32319.1	15																																																																																			AKAP13	-	NULL		0.438	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	C	NM_007200		86189140	+1	no_errors	ENST00000361243	ensembl	human	known	70_37	silent	SNP	1.000	G
LVRN	206338	genome.wustl.edu	37	5	115298713	115298713	+	Silent	SNP	C	C	T	rs571373626		TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr5:115298713C>T	ENST00000357872.4	+	1	523	c.399C>T	c.(397-399)atC>atT	p.I133I	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		133						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										GCGTGAACATCACGGTGCGCT	0.687																																																	0													52.0	56.0	55.0					5																	115298713		2202	4299	6501	SO:0001819	synonymous_variant	206338																														ENST00000357872.4:c.399C>T	5.37:g.115298713C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.I133	ENST00000357872.4	37	c.399	CCDS4124.1	5																																																																																			AQPEP	-	pfam_Peptidase_M1_N		0.687	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQPEP	Uniprot_genename	protein_coding	OTTHUMT00000250852.1	C			115298713	+1	no_errors	ENST00000357872	ensembl	human	known	70_37	silent	SNP	1.000	T
ARHGAP33	115703	genome.wustl.edu	37	19	36271142	36271142	+	Silent	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr19:36271142C>T	ENST00000007510.4	+	7	675	c.531C>T	c.(529-531)ctC>ctT	p.L177L	ARHGAP33_ENST00000314737.5_Silent_p.L177L|ARHGAP33_ENST00000378944.5_Silent_p.L41L			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	177					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GACTGCTCCTCAGTGAGGAGG	0.577																																																	0													71.0	65.0	67.0					19																	36271142		2203	4300	6503	SO:0001819	synonymous_variant	115703			AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.531C>T	19.37:g.36271142C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Silent	SNP	pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.L177	ENST00000007510.4	37	c.531		19																																																																																			ARHGAP33	-	NULL		0.577	ARHGAP33-201	KNOWN	basic	protein_coding	ARHGAP33	HGNC	protein_coding		C	NM_052948		36271142	+1	no_errors	ENST00000007510	ensembl	human	known	70_37	silent	SNP	0.986	T
AXL	558	genome.wustl.edu	37	19	41759596	41759596	+	Silent	SNP	G	G	C			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr19:41759596G>C	ENST00000301178.4	+	17	2209	c.2019G>C	c.(2017-2019)ctG>ctC	p.L673L	AXL_ENST00000593513.1_Silent_p.L405L|AXL_ENST00000359092.3_Silent_p.L664L	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	673	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						ACCGGGACCTGGCGGCCAGGA	0.582																																																	0													87.0	73.0	78.0					19																	41759596		2203	4300	6503	SO:0001819	synonymous_variant	558			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.2019G>C	19.37:g.41759596G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N5L2|Q9UD27	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L673	ENST00000301178.4	37	c.2019	CCDS12575.1	19																																																																																			AXL	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,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,prints_Ser-Thr/Tyr_kinase_cat_dom		0.582	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXL	HGNC	protein_coding	OTTHUMT00000463323.2	G			41759596	+1	no_errors	ENST00000301178	ensembl	human	known	70_37	silent	SNP	1.000	C
AZGP1	563	genome.wustl.edu	37	7	99564616	99564616	+	3'UTR	SNP	C	C	A	rs146780290		TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr7:99564616C>A	ENST00000292401.4	-	0	1043				AZGP1_ENST00000411734.1_3'UTR|AZGP1_ENST00000483612.1_5'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding						antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TTGCCTCCAACCCTTGCTTCC	0.622																																																	0													84.0	80.0	81.0					7																	99564616		2199	4295	6494	SO:0001624	3_prime_UTR_variant	563			BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"""Immunoglobulin superfamily / C1-set domain containing"""	910	protein-coding gene	gene with protein product		194460	"""alpha-2-glycoprotein 1, zinc"""			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.*10G>T	7.37:g.99564616C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D6W5T8|O60386|Q5XKQ4|Q8N4N0	RNA	SNP	-	NULL	ENST00000292401.4	37	NULL	CCDS5680.1	7																																																																																			AZGP1	-	-		0.622	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZGP1	HGNC	protein_coding	OTTHUMT00000059387.4	C	NM_001185		99564616	-1	no_errors	ENST00000483612	ensembl	human	known	70_37	rna	SNP	0.004	A
BACE1	23621	genome.wustl.edu	37	11	117163829	117163829	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr11:117163829C>T	ENST00000313005.6	-	5	1241	c.781G>A	c.(781-783)Gag>Aag	p.E261K	BACE1_ENST00000392937.6_Missense_Mutation_p.E161K|BACE1_ENST00000510630.1_Missense_Mutation_p.E136K|BACE1_ENST00000428381.2_Missense_Mutation_p.E192K|BACE1_ENST00000514464.1_5'Flank|BACE1_ENST00000528053.1_Missense_Mutation_p.E261K|BACE1_ENST00000513780.1_Missense_Mutation_p.E236K|BACE1_ENST00000445823.2_Missense_Mutation_p.E217K	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	261					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		ATGATCACCTCATAATACCAC	0.507																																																	0													234.0	223.0	227.0					11																	117163829		2201	4296	6497	SO:0001583	missense	23621			AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"""beta-site APP-cleaving enzyme"""	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.781G>A	11.37:g.117163829C>T	ENSP00000318585:p.Glu261Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Missense_Mutation	SNP	pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Pept_A1_BACE,prints_Pept_A1_BACE1,prints_Peptidase_A1	p.E261K	ENST00000313005.6	37	c.781	CCDS8383.1	11	.	.	.	.	.	.	.	.	.	.	C	37	6.177058	0.97352	.	.	ENSG00000186318	ENST00000313005;ENST00000392937;ENST00000528053;ENST00000510630;ENST00000428381;ENST00000513780;ENST00000445823;ENST00000292095	T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4	6.07	6.07	0.98685	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.73133	0.3548	M	0.70595	2.14	0.80722	D	1	D;P;D;P;D;D	0.89917	0.965;0.866;0.992;0.533;1.0;0.959	P;P;P;B;D;P	0.70716	0.624;0.507;0.874;0.233;0.97;0.662	T	0.73135	-0.4078	10	0.66056	D	0.02	.	19.6321	0.95713	0.0:1.0:0.0:0.0	.	161;136;261;217;192;236	F8W807;E9PE65;P56817;P56817-3;P56817-4;P56817-2	.;.;BACE1_HUMAN;.;.;.	K	261;161;261;136;192;236;217;27	ENSP00000318585:E261K;ENSP00000431848:E261K;ENSP00000422461:E136K;ENSP00000402228:E192K;ENSP00000424536:E236K;ENSP00000403685:E217K	ENSP00000292095:E27K	E	-	1	0	BACE1	116669039	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.396000	0.59684	2.884000	0.98904	0.655000	0.94253	GAG	BACE1	-	pfam_Peptidase_A1,superfamily_Peptidase_aspartic		0.507	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BACE1	HGNC	protein_coding	OTTHUMT00000361505.1	C			117163829	-1	no_errors	ENST00000313005	ensembl	human	known	70_37	missense	SNP	1.000	T
BRCA1	672	genome.wustl.edu	37	17	41215378	41215378	+	Missense_Mutation	SNP	G	G	A	rs80357104		TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr17:41215378G>A	ENST00000357654.3	-	18	5283	c.5165C>T	c.(5164-5166)tCt>tTt	p.S1722F	BRCA1_ENST00000351666.3_Missense_Mutation_p.S539F|BRCA1_ENST00000471181.2_Missense_Mutation_p.S1743F|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.S1426F|BRCA1_ENST00000354071.3_Missense_Mutation_p.S1457F|BRCA1_ENST00000586385.1_Missense_Mutation_p.S32F|BRCA1_ENST00000352993.3_Missense_Mutation_p.S580F|BRCA1_ENST00000491747.2_Missense_Mutation_p.S618F|BRCA1_ENST00000493795.1_Missense_Mutation_p.S1675F|BRCA1_ENST00000468300.1_Missense_Mutation_p.S618F|BRCA1_ENST00000591534.1_Missense_Mutation_p.S213F|BRCA1_ENST00000346315.3_Missense_Mutation_p.S1483F	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1722	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTCTTTAATAGACTGGGTCAC	0.363			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																													yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0													132.0	129.0	130.0					17																	41215378		2203	4300	6503	SO:0001583	missense	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.5165C>T	17.37:g.41215378G>A	ENSP00000350283:p.Ser1722Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING	p.S1743F	ENST00000357654.3	37	c.5228	CCDS11453.1	17	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197448	0.79015	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919	D;T;D;T;D;D;D;D;D;D;D;D	0.90676	-2.71;-0.02;-2.71;0.39;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71	5.46	5.46	0.80206	BRCT (4);	0.000000	0.49916	D	0.000137	D	0.95560	0.8557	M	0.85197	2.74	0.43793	D	0.996332	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.996;1.0	D;D;D;D;D;D;D;P;D	0.97110	0.999;1.0;0.989;1.0;1.0;1.0;1.0;0.814;1.0	D	0.95818	0.8847	10	0.87932	D	0	.	15.1639	0.72807	0.0:0.0:1.0:0.0	.	618;571;32;617;619;618;1744;1722;1722	E7EUM2;B4DES0;C6YB45;E7ETR2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2	.;.;.;.;.;.;.;BRCA1_HUMAN;.	F	1722;1743;1457;580;1483;539;1426;618;571;1744;1675;617;618;493;572	ENSP00000350283:S1722F;ENSP00000326002:S1457F;ENSP00000312236:S580F;ENSP00000246907:S1483F;ENSP00000338007:S539F;ENSP00000310938:S1426F;ENSP00000417148:S618F;ENSP00000377294:S571F;ENSP00000418775:S1675F;ENSP00000420412:S618F;ENSP00000419481:S493F;ENSP00000418819:S572F	ENSP00000310938:S1426F	S	-	2	0	BRCA1	38468904	1.000000	0.71417	0.985000	0.45067	0.865000	0.49528	2.861000	0.48380	2.724000	0.93272	0.491000	0.48974	TCT	BRCA1	-	pirsf_BRCA1,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.363	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	HGNC	protein_coding	OTTHUMT00000348798.2	G	NM_007294		41215378	-1	no_errors	ENST00000471181	ensembl	human	known	70_37	missense	SNP	1.000	A
BRWD1	54014	genome.wustl.edu	37	21	40568805	40568805	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr21:40568805C>T	ENST00000333229.2	-	41	6517	c.6190G>A	c.(6190-6192)Gag>Aag	p.E2064K	BRWD1_ENST00000380800.3_Missense_Mutation_p.E2064K|BRWD1_ENST00000342449.3_Missense_Mutation_p.E2064K	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2064					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTATCAGTCTCACTCCCTGGA	0.393																																					Melanoma(170;988 1986 4794 16843 39731)												0													132.0	134.0	133.0					21																	40568805		2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.6190G>A	21.37:g.40568805C>T	ENSP00000330753:p.Glu2064Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.E2064K	ENST00000333229.2	37	c.6190	CCDS13662.1	21	.	.	.	.	.	.	.	.	.	.	C	9.008	0.981854	0.18812	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.56941	0.43;0.44;0.52	5.53	4.62	0.57501	.	0.487188	0.21529	N	0.073064	T	0.48624	0.1510	M	0.71581	2.175	0.19300	N	0.99998	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.41270	-0.9518	10	0.33141	T	0.24	-1.267	7.9267	0.29878	0.0:0.6181:0.2954:0.0865	.	2064;2064	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	K	2064	ENSP00000330753:E2064K;ENSP00000344333:E2064K;ENSP00000370178:E2064K	ENSP00000330753:E2064K	E	-	1	0	BRWD1	39490675	0.001000	0.12720	0.021000	0.16686	0.911000	0.54048	1.313000	0.33585	1.245000	0.43885	0.655000	0.94253	GAG	BRWD1	-	NULL		0.393	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	C	NM_033656		40568805	-1	no_errors	ENST00000333229	ensembl	human	known	70_37	missense	SNP	0.009	T
BTK	695	genome.wustl.edu	37	X	100604945	100604945	+	Splice_Site	SNP	C	C	G			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chrX:100604945C>G	ENST00000308731.7	-	19	2072		c.e19-1		TIMM8A_ENST00000480575.1_5'Flank|TIMM8A_ENST00000372902.3_5'Flank|BTK_ENST00000372880.1_Splice_Site	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase						adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CATCTGCTTTCTAAAACCAAA	0.363									Agammaglobulinemia, X-linked																																								0													93.0	94.0	94.0					X																	100604945		2203	4300	6503	SO:0001630	splice_region_variant	695	Familial Cancer Database	Bruton Type Agammaglobulinemia	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.1909-1G>C	X.37:g.100604945C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAW1|Q32ML5	Splice_Site	SNP	-	e18-1	ENST00000308731.7	37	c.1909-1	CCDS14482.1	X	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470571	0.63625	.	.	ENSG00000010671	ENST00000372880;ENST00000372855;ENST00000372859;ENST00000372860;ENST00000395179;ENST00000308731	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2898	0.73857	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BTK	100491601	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.399000	0.66314	2.288000	0.76882	0.523000	0.50628	.	BTK	-	-		0.363	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	BTK	HGNC	protein_coding	OTTHUMT00000057532.2	C	NM_000061	Intron	100604945	-1	no_errors	ENST00000308731	ensembl	human	known	70_37	splice_site	SNP	1.000	G
C22orf29	79680	genome.wustl.edu	37	22	19839483	19839483	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr22:19839483C>T	ENST00000405640.1	-	2	970	c.302G>A	c.(301-303)gGc>gAc	p.G101D	GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.G101D|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.G101D			Q7L3V2	BOP_HUMAN	chromosome 22 open reading frame 29	101					mitochondrial outer membrane permeabilization (GO:0097345)|regulation of mitochondrial membrane potential (GO:0051881)	mitochondrion (GO:0005739)				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					TGGGTCTGAGCCTGGTACCCA	0.607																																																	0													52.0	60.0	58.0					22																	19839483		2203	4300	6503	SO:0001583	missense	79680			BX640998	CCDS13769.1	22q11.21	2006-07-05			ENSG00000215012	ENSG00000215012			26112	protein-coding gene	gene with protein product						12477932	Standard	NM_024627		Approved	FLJ21125	uc002zqh.3	Q7L3V2	OTTHUMG00000030314	ENST00000405640.1:c.302G>A	22.37:g.19839483C>T	ENSP00000384924:p.Gly101Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5E7|D3DX21|Q6MZM8|Q6N000|Q9H7A0	Missense_Mutation	SNP	NULL	p.G101D	ENST00000405640.1	37	c.302	CCDS13769.1	22	.	.	.	.	.	.	.	.	.	.	C	7.275	0.607841	0.14002	.	.	ENSG00000215012	ENST00000407472;ENST00000328554;ENST00000405640	T;T;T	0.29397	1.57;1.57;1.57	3.68	0.162	0.14981	.	.	.	.	.	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	P	0.40731	0.728	B	0.30179	0.112	T	0.17228	-1.0376	9	0.21540	T	0.41	-7.3955	4.5589	0.12151	0.3836:0.5076:0.0:0.1088	.	101	Q7L3V2	CV029_HUMAN	D	101	ENSP00000386111:G101D;ENSP00000330596:G101D;ENSP00000384924:G101D	ENSP00000330596:G101D	G	-	2	0	C22orf29	18219483	0.000000	0.05858	0.004000	0.12327	0.066000	0.16364	-0.232000	0.09055	0.124000	0.18369	0.655000	0.94253	GGC	C22orf29	-	NULL		0.607	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C22orf29	HGNC	protein_coding	OTTHUMT00000317290.2	C	NM_024627		19839483	-1	no_errors	ENST00000328554	ensembl	human	known	70_37	missense	SNP	0.004	T
C9orf171	389799	genome.wustl.edu	37	9	135285786	135285786	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr9:135285786C>G	ENST00000343036.2	+	1	176	c.128C>G	c.(127-129)tCc>tGc	p.S43C	C9orf171_ENST00000393215.3_Missense_Mutation_p.S43C|C9orf171_ENST00000393216.2_Missense_Mutation_p.S43C	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	43										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GACATCCGTTCCGGCATGGAG	0.687																																																	0													17.0	15.0	16.0					9																	135285786		2117	4193	6310	SO:0001583	missense	389799			AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.128C>G	9.37:g.135285786C>G	ENSP00000343290:p.Ser43Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q147X1	Missense_Mutation	SNP	NULL	p.S43C	ENST00000343036.2	37	c.128	CCDS6949.1	9	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748082	0.49257	.	.	ENSG00000188523	ENST00000393215;ENST00000343036;ENST00000393216	T;T;T	0.35236	1.32;1.86;1.74	4.91	4.91	0.64330	.	0.423390	0.22027	N	0.065656	T	0.23370	0.0565	N	0.08118	0	0.09310	N	1	B;B	0.31351	0.32;0.188	B;B	0.33392	0.117;0.163	T	0.30179	-0.9987	10	0.66056	D	0.02	.	14.8661	0.70416	0.0:1.0:0.0:0.0	.	43;43	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	C	43	ENSP00000376908:S43C;ENSP00000343290:S43C;ENSP00000376909:S43C	ENSP00000343290:S43C	S	+	2	0	C9orf171	134275607	0.011000	0.17503	0.881000	0.34555	0.885000	0.51271	1.865000	0.39479	2.272000	0.75746	0.306000	0.20318	TCC	C9orf171	-	NULL		0.687	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf171	HGNC	protein_coding	OTTHUMT00000254589.1	C	NM_207417		135285786	+1	no_errors	ENST00000343036	ensembl	human	known	70_37	missense	SNP	0.216	G
CASS4	57091	genome.wustl.edu	37	20	55027331	55027331	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr20:55027331G>C	ENST00000360314.3	+	6	1324	c.1099G>C	c.(1099-1101)Gag>Cag	p.E367Q	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000371336.3_Missense_Mutation_p.E367Q	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	367					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GAAGGAGCTGGAGAAAGCCAA	0.507																																																	0													60.0	50.0	54.0					20																	55027331		2203	4300	6503	SO:0001583	missense	57091			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1099G>C	20.37:g.55027331G>C	ENSP00000353462:p.Glu367Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.E367Q	ENST00000360314.3	37	c.1099	CCDS33492.1	20	.	.	.	.	.	.	.	.	.	.	G	7.406	0.633723	0.14322	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.14391	2.51;2.51	5.37	1.17	0.20885	.	1.301920	0.05053	N	0.478442	T	0.10766	0.0263	L	0.32530	0.975	0.09310	N	1	B;B;B	0.17268	0.002;0.021;0.001	B;B;B	0.17979	0.004;0.02;0.004	T	0.39542	-0.9609	10	0.18276	T	0.48	-0.4456	5.8826	0.18864	0.2763:0.1269:0.5968:0.0	.	313;367;367	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	Q	367	ENSP00000353462:E367Q;ENSP00000360387:E367Q	ENSP00000353462:E367Q	E	+	1	0	CASS4	54460738	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.774000	0.26675	0.057000	0.16193	-0.252000	0.11476	GAG	CASS4	-	NULL		0.507	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASS4	HGNC	protein_coding	OTTHUMT00000079789.2	G	NM_020356		55027331	+1	no_errors	ENST00000360314	ensembl	human	known	70_37	missense	SNP	0.000	C
SPECC1	92521	genome.wustl.edu	37	17	20224971	20224971	+	IGR	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr17:20224971G>A	ENST00000395530.2	+	0	8133				AC004702.2_ENST00000580225.1_lincRNA|U6_ENST00000517027.1_RNA|CCDC144CP_ENST00000340196.4_RNA	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1						cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		ATAGGAAGAAGAGGTAATGGC	0.662																																																	0																																										SO:0001628	intergenic_variant	348254			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808		17.37:g.20224971G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	RNA	SNP	-	NULL	ENST00000395530.2	37	NULL	CCDS42281.1	17																																																																																			CCDC144C	-	-		0.662	SPECC1-004	KNOWN	basic|CCDS	protein_coding	CCDC144C	HGNC	protein_coding	OTTHUMT00000132368.3	G	NM_152904		20224971	+1	no_errors	ENST00000340196	ensembl	human	known	70_37	rna	SNP	0.003	A
CEP350	9857	genome.wustl.edu	37	1	179989083	179989083	+	Splice_Site	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr1:179989083G>A	ENST00000367607.3	+	12	2592		c.e12-1			NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa						microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTCATTTCCAGAAAAGACTTG	0.358																																																	0													99.0	102.0	101.0					1																	179989083		2203	4300	6503	SO:0001630	splice_region_variant	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2175-1G>A	1.37:g.179989083G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O75068|Q8TDK3|Q8WY20	Splice_Site	SNP	-	e11-1	ENST00000367607.3	37	c.2175-1	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029130	0.54790	.	.	ENSG00000135837	ENST00000367607	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7854	0.88536	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEP350	178255706	1.000000	0.71417	0.934000	0.37439	0.800000	0.45204	6.780000	0.75063	2.749000	0.94314	0.655000	0.94253	.	CEP350	-	-		0.358	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	G	NM_014810	Intron	179989083	+1	no_errors	ENST00000367607	ensembl	human	known	70_37	splice_site	SNP	1.000	A
CHD4	1108	genome.wustl.edu	37	12	6710828	6710828	+	Silent	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr12:6710828G>A	ENST00000357008.2	-	5	706	c.543C>T	c.(541-543)ttC>ttT	p.F181F	CHD4_ENST00000544484.1_Silent_p.F178F|CHD4_ENST00000544040.1_Silent_p.F174F|CHD4_ENST00000309577.6_Silent_p.F181F	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	181					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CAAACTGGCTGAAGGCCTTGT	0.453																																					Colon(32;586 792 4568 16848 45314)												0													264.0	273.0	270.0					12																	6710828		2203	4300	6503	SO:0001819	synonymous_variant	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.543C>T	12.37:g.6710828G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IXZ5	Silent	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.F181	ENST00000357008.2	37	c.543	CCDS8552.1	12																																																																																			CHD4	-	pfam_CHD_N,superfamily_HMG_superfamily		0.453	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		G	NM_001273		6710828	-1	no_errors	ENST00000309577	ensembl	human	known	70_37	silent	SNP	1.000	A
CERS5	91012	genome.wustl.edu	37	12	50528463	50528463	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr12:50528463C>T	ENST00000317551.6	-	9	1019	c.895G>A	c.(895-897)Gag>Aag	p.E299K	CERS5_ENST00000422340.2_Missense_Mutation_p.E241K	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	299	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TCCCAACTCTCAAAGAGGGTC	0.512																																																	0													108.0	106.0	107.0					12																	50528463		2203	4300	6503	SO:0001583	missense	91012				CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"""Homeoboxes / CERS class"""	23749	protein-coding gene	gene with protein product		615335	"""LAG1 longevity assurance homolog 5 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 5"""	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.895G>A	12.37:g.50528463C>T	ENSP00000325485:p.Glu299Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DV54	Missense_Mutation	SNP	pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeodomain	p.E299K	ENST00000317551.6	37	c.895	CCDS8801.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.558728	0.96514	.	.	ENSG00000139624	ENST00000551005;ENST00000317551;ENST00000422340	D;D;D	0.85088	-1.94;-1.94;-1.94	5.01	5.01	0.66863	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.91771	0.7397	M	0.78223	2.4	0.80722	D	1	D;B;P	0.76494	0.999;0.238;0.929	D;B;P	0.73708	0.981;0.159;0.614	D	0.88908	0.3357	10	0.22109	T	0.4	-16.3192	18.9053	0.92458	0.0:1.0:0.0:0.0	.	241;299;218	B4DV54;Q8N5B7;F8W0U5	.;CERS5_HUMAN;.	K	218;299;241	ENSP00000447556:E218K;ENSP00000325485:E299K;ENSP00000389050:E241K	ENSP00000325485:E299K	E	-	1	0	CERS5	48814730	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.493000	0.81493	2.785000	0.95823	0.655000	0.94253	GAG	CERS5	-	pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom		0.512	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CERS5	HGNC	protein_coding	OTTHUMT00000406069.3	C	NM_147190		50528463	-1	no_errors	ENST00000317551	ensembl	human	known	70_37	missense	SNP	1.000	T
CHL1	10752	genome.wustl.edu	37	3	432680	432680	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr3:432680C>T	ENST00000256509.2	+	22	3271	c.2629C>T	c.(2629-2631)Cat>Tat	p.H877Y	CHL1_ENST00000397491.2_Missense_Mutation_p.H861Y	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TGGAAGAACACATCCCAAAGA	0.358																																																	0													80.0	83.0	82.0					3																	432680		2203	4300	6503	SO:0001583	missense	10752			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2629C>T	3.37:g.432680C>T	ENSP00000256509:p.His877Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.H877Y	ENST00000256509.2	37	c.2629	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	C	3.819	-0.038201	0.07497	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.56941	0.43;0.43	5.75	1.29	0.21616	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.612526	0.18261	N	0.146624	T	0.51534	0.1680	L	0.46157	1.445	0.09310	N	1	P;P;B	0.35714	0.517;0.517;0.38	P;P;B	0.52159	0.691;0.456;0.283	T	0.46091	-0.9216	10	0.02654	T	1	.	8.9584	0.35832	0.0:0.6802:0.1112:0.2086	.	861;861;877	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	Y	877;861	ENSP00000256509:H877Y;ENSP00000380628:H861Y	ENSP00000256509:H877Y	H	+	1	0	CHL1	407680	0.752000	0.28338	0.007000	0.13788	0.970000	0.65996	2.133000	0.42093	0.323000	0.23307	0.655000	0.94253	CAT	CHL1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.358	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	HGNC	protein_coding	OTTHUMT00000207155.2	C	NM_006614		432680	+1	no_errors	ENST00000256509	ensembl	human	known	70_37	missense	SNP	0.000	T
CLPB	81570	genome.wustl.edu	37	11	72005439	72005439	+	Missense_Mutation	SNP	T	T	C	rs150857620		TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr11:72005439T>C	ENST00000294053.3	-	15	1873	c.1700A>G	c.(1699-1701)tAc>tGc	p.Y567C	CLPB_ENST00000538039.1_Missense_Mutation_p.Y537C|CLPB_ENST00000340729.5_Missense_Mutation_p.Y508C|CLPB_ENST00000543042.1_Missense_Mutation_p.Y366C|CLPB_ENST00000538021.1_Missense_Mutation_p.Y175C|CLPB_ENST00000437826.2_Missense_Mutation_p.Y522C	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	567					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						GGGGAGGAAGTAGACGATCTC	0.567																																																	0								T	CYS/TYR	0,4400		0,0,2200	86.0	81.0	83.0		1700	5.9	1.0	11	dbSNP_134	83	1,8585	1.2+/-3.3	0,1,4292	no	missense	CLPB	NM_030813.3	194	0,1,6492	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	567/708	72005439	1,12985	2200	4293	6493	SO:0001583	missense	81570			BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.1700A>G	11.37:g.72005439T>C	ENSP00000294053:p.Tyr567Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	pfam_ATPase_AAA-2,pfam_Ankyrin_rpt,pfam_Clp_ATPase_C,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,pfam_Zeta_toxin_domain,pfam_Sigma_54_int,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_AAA+_ATPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Chaprnin_ClpA/B	p.Y567C	ENST00000294053.3	37	c.1700	CCDS8215.1	11	.	.	.	.	.	.	.	.	.	.	T	22.7	4.324844	0.81580	0.0	1.16E-4	ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000535990;ENST00000340729;ENST00000437826;ENST00000543042;ENST00000538021	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.88	5.88	0.94601	.	0.059057	0.64402	D	0.000001	T	0.61726	0.2370	M	0.86651	2.83	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.984;0.998;0.984;0.982;0.999;0.98	T	0.68750	-0.5326	10	0.87932	D	0	-17.2561	15.1142	0.72388	0.0:0.0:0.0:1.0	.	366;508;522;537;567;175	B4DXW4;F8W7P6;E7EWN6;Q9H078-2;Q9H078;Q7Z777	.;.;.;.;CLPB_HUMAN;.	C	567;537;572;508;522;366;175	ENSP00000294053:Y567C;ENSP00000441518:Y537C;ENSP00000443822:Y572C;ENSP00000340385:Y508C;ENSP00000407296:Y522C;ENSP00000439746:Y366C;ENSP00000445180:Y175C	ENSP00000294053:Y567C	Y	-	2	0	CLPB	71683087	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.898000	0.87363	2.243000	0.73865	0.533000	0.62120	TAC	CLPB	-	NULL		0.567	CLPB-001	KNOWN	basic|CCDS	protein_coding	CLPB	HGNC	protein_coding	OTTHUMT00000396889.1	T	NM_030813		72005439	-1	no_errors	ENST00000294053	ensembl	human	known	70_37	missense	SNP	1.000	C
CLVS2	134829	genome.wustl.edu	37	6	123369870	123369870	+	Missense_Mutation	SNP	G	G	A	rs376660185		TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr6:123369870G>A	ENST00000275162.5	+	4	2003	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	CLVS2_ENST00000368438.1_Missense_Mutation_p.R77Q	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	223	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GAGAAAACTCGGAAAAGGGTA	0.378																																																	0								G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	110.0	116.0	114.0		668	4.8	1.0	6		114	0,8600		0,0,4300	no	missense	CLVS2	NM_001010852.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	223/328	123369870	1,13005	2203	4300	6503	SO:0001583	missense	134829			AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.668G>A	6.37:g.123369870G>A	ENSP00000275162:p.Arg223Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.R223Q	ENST00000275162.5	37	c.668	CCDS34525.1	6	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033250	0.93575	2.27E-4	0.0	ENSG00000146352	ENST00000275162;ENST00000368438	T;T	0.77620	-1.11;-1.11	5.72	4.8	0.61643	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.055607	0.64402	D	0.000001	T	0.61837	0.2379	L	0.49256	1.55	0.80722	D	1	P	0.47841	0.901	B	0.37692	0.256	T	0.64740	-0.6336	10	0.33141	T	0.24	-16.4352	15.8674	0.79074	0.0:0.0:0.8639:0.1361	.	223	Q5SYC1	CLVS2_HUMAN	Q	223;77	ENSP00000275162:R223Q;ENSP00000357423:R77Q	ENSP00000275162:R223Q	R	+	2	0	CLVS2	123411569	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.394000	0.79862	2.850000	0.98022	0.650000	0.86243	CGG	CLVS2	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran		0.378	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLVS2	HGNC	protein_coding	OTTHUMT00000042042.2	G	NM_001010852		123369870	+1	no_errors	ENST00000275162	ensembl	human	known	70_37	missense	SNP	1.000	A
COL4A5	1287	genome.wustl.edu	37	X	107834847	107834847	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chrX:107834847G>A	ENST00000361603.2	+	21	1640	c.1396G>A	c.(1396-1398)Gga>Aga	p.G466R	COL4A5_ENST00000328300.6_Missense_Mutation_p.G466R	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	466	Triple-helical region.		G -> E (in APSX).		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.G466*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGGTGATAAAGGACTCCAAGG	0.418									Alport syndrome with Diffuse Leiomyomatosis																																								1	Substitution - Nonsense(1)	large_intestine(1)											98.0	101.0	100.0					X																	107834847		2203	4300	6503	SO:0001583	missense	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1396G>A	X.37:g.107834847G>A	ENSP00000354505:p.Gly466Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G466R	ENST00000361603.2	37	c.1396	CCDS14543.1	X	.	.	.	.	.	.	.	.	.	.	g	13.35	2.212062	0.39102	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.99186	-5.53;-5.53	5.22	5.22	0.72569	.	0.059497	0.64402	D	0.000003	D	0.99363	0.9776	H	0.94698	3.57	0.80722	D	1	D;D;D	0.63880	0.964;0.993;0.964	P;P;P	0.57371	0.554;0.819;0.554	D	0.98681	1.0692	10	0.87932	D	0	.	16.8192	0.85741	0.0:0.0:1.0:0.0	.	466;74;466	E7EVY4;Q49AM6;P29400	.;.;CO4A5_HUMAN	R	466	ENSP00000331902:G466R;ENSP00000354505:G466R	ENSP00000331902:G466R	G	+	1	0	COL4A5	107721503	1.000000	0.71417	1.000000	0.80357	0.010000	0.07245	8.504000	0.90512	2.178000	0.69098	0.464000	0.42555	GGA	COL4A5	-	NULL		0.418	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	G			107834847	+1	no_errors	ENST00000328300	ensembl	human	known	70_37	missense	SNP	1.000	A
CTDSPL2	51496	genome.wustl.edu	37	15	44811464	44811464	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr15:44811464G>C	ENST00000260327.4	+	11	1773	c.1210G>C	c.(1210-1212)Gac>Cac	p.D404H	CTDSPL2_ENST00000396780.1_Missense_Mutation_p.D332H|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.D404H|CTDSPL2_ENST00000558373.1_Missense_Mutation_p.D332H|CTD-2329K10.1_ENST00000561324.1_RNA	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	404	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.						phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		TATAATAATTGACAACTCACC	0.348																																																	0													56.0	63.0	61.0					15																	44811464		2197	4294	6491	SO:0001583	missense	51496			AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.1210G>C	15.37:g.44811464G>C	ENSP00000260327:p.Asp404His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Missense_Mutation	SNP	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase	p.D404H	ENST00000260327.4	37	c.1210	CCDS10110.1	15	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703039	0.88924	.	.	ENSG00000137770	ENST00000260327;ENST00000396780	T;T	0.55930	0.49;0.49	5.98	5.98	0.97165	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.044518	0.85682	D	0.000000	D	0.87799	0.6268	H	0.99940	5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93253	0.6636	10	0.87932	D	0	-2.7967	20.4561	0.99145	0.0:0.0:1.0:0.0	.	332;404	Q05D32-2;Q05D32	.;CTSL2_HUMAN	H	404;332	ENSP00000260327:D404H;ENSP00000380000:D332H	ENSP00000260327:D404H	D	+	1	0	CTDSPL2	42598756	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.837000	0.99465	2.843000	0.97960	0.650000	0.86243	GAC	CTDSPL2	-	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase		0.348	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDSPL2	HGNC	protein_coding	OTTHUMT00000253851.1	G	NM_016396		44811464	+1	no_errors	ENST00000260327	ensembl	human	known	70_37	missense	SNP	1.000	C
CTNNA2	1496	genome.wustl.edu	37	2	80101289	80101289	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr2:80101289C>G	ENST00000402739.4	+	5	678	c.673C>G	c.(673-675)Caa>Gaa	p.Q225E	CTNNA2_ENST00000540488.1_Missense_Mutation_p.Q225E|CTNNA2_ENST00000496558.1_Missense_Mutation_p.Q225E|CTNNA2_ENST00000541047.1_Missense_Mutation_p.Q225E|CTNNA2_ENST00000466387.1_Missense_Mutation_p.Q225E|CTNNA2_ENST00000361291.4_Missense_Mutation_p.Q259E	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	225					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CACGGCCTCTCAAGCATTTCT	0.567																																																	0													53.0	57.0	56.0					2																	80101289		2075	4209	6284	SO:0001583	missense	1496				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.673C>G	2.37:g.80101289C>G	ENSP00000384638:p.Gln225Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.Q259E	ENST00000402739.4	37	c.775		2	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433005	0.62844	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.34919	0.0914	L	0.44542	1.39	0.80722	D	1	B;B;B	0.29270	0.24;0.13;0.13	B;B;B	0.22880	0.042;0.011;0.011	T	0.08806	-1.0704	10	0.51188	T	0.08	.	19.8448	0.96704	0.0:1.0:0.0:0.0	.	225;225;225	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	E	225;225;259;225;225;225	ENSP00000418191:Q225E;ENSP00000419295:Q225E;ENSP00000355398:Q259E;ENSP00000384638:Q225E;ENSP00000444675:Q225E;ENSP00000441705:Q225E	ENSP00000355398:Q259E	Q	+	1	0	CTNNA2	79954797	1.000000	0.71417	0.999000	0.59377	0.664000	0.39144	7.818000	0.86416	2.686000	0.91538	0.650000	0.86243	CAA	CTNNA2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.567	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4	C	NM_004389		80101289	+1	no_errors	ENST00000361291	ensembl	human	known	70_37	missense	SNP	1.000	G
CTSV	1515	genome.wustl.edu	37	9	99795320	99795320	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr9:99795320C>G	ENST00000259470.5	-	8	1165	c.916G>C	c.(916-918)Gaa>Caa	p.E306Q	CTSV_ENST00000538255.1_Missense_Mutation_p.E306Q	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	306					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)										GAGCCCCATTCTGGACCCCAG	0.433																																																	0													99.0	89.0	92.0					9																	99795320		2203	4300	6503	SO:0001583	missense	1515			Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"""Cathepsins"""	2538	protein-coding gene	gene with protein product		603308	"""cathepsin L2"""	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.916G>C	9.37:g.99795320C>G	ENSP00000259470:p.Glu306Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O60233|Q2TB86|Q5T1U0	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.E306Q	ENST00000259470.5	37	c.916	CCDS6723.1	9	.	.	.	.	.	.	.	.	.	.	C	4.777	0.144570	0.09134	.	.	ENSG00000136943	ENST00000259470;ENST00000538255	T;T	0.22539	1.95;1.95	3.81	-1.67	0.08238	Peptidase C1A, papain C-terminal (2);	0.344964	0.32218	N	0.006407	T	0.08447	0.0210	N	0.13043	0.29	0.09310	N	1	B	0.11235	0.004	B	0.14578	0.011	T	0.28459	-1.0043	9	.	.	.	.	5.0284	0.14396	0.0:0.312:0.1637:0.5243	.	306	O60911	CATL2_HUMAN	Q	306	ENSP00000259470:E306Q;ENSP00000445052:E306Q	.	E	-	1	0	CTSL2	98835141	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.257000	0.18369	-0.313000	0.08728	0.563000	0.77884	GAA	CTSL2	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.433	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSL2	HGNC	protein_coding	OTTHUMT00000053301.2	C	NM_001333		99795320	-1	no_errors	ENST00000259470	ensembl	human	known	70_37	missense	SNP	0.000	G
CUL1	8454	genome.wustl.edu	37	7	148487457	148487457	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr7:148487457G>A	ENST00000325222.4	+	16	2009	c.1730G>A	c.(1729-1731)cGa>cAa	p.R577Q	CUL1_ENST00000409469.1_Missense_Mutation_p.R577Q|CUL1_ENST00000602748.1_Missense_Mutation_p.R577Q	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	577					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CACAGTGGCCGAAAATTGACG	0.383																																																	0													89.0	87.0	87.0					7																	148487457		2203	4300	6503	SO:0001583	missense	8454			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1730G>A	7.37:g.148487457G>A	ENSP00000326804:p.Arg577Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.R577Q	ENST00000325222.4	37	c.1730	CCDS34772.1	7	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944634	0.92593	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	D;D	0.87729	-2.29;-2.29	5.07	5.07	0.68467	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.96312	0.8797	H	0.98027	4.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98091	1.0409	10	0.87932	D	0	-19.8332	18.4658	0.90753	0.0:0.0:1.0:0.0	.	504;577	E7EWR0;Q13616	.;CUL1_HUMAN	Q	577;577;535;504	ENSP00000387160:R577Q;ENSP00000326804:R577Q	ENSP00000326804:R577Q	R	+	2	0	CUL1	148118390	1.000000	0.71417	0.076000	0.20297	0.615000	0.37417	9.538000	0.98072	2.359000	0.80004	0.655000	0.94253	CGA	CUL1	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology		0.383	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	HGNC	protein_coding	OTTHUMT00000467785.1	G	NM_003592		148487457	+1	no_errors	ENST00000325222	ensembl	human	known	70_37	missense	SNP	0.995	A
DDI1	414301	genome.wustl.edu	37	11	103908368	103908368	+	Missense_Mutation	SNP	C	C	T	rs140727572		TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr11:103908368C>T	ENST00000302259.3	+	1	1061	c.818C>T	c.(817-819)gCc>gTc	p.A273V	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	273							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CAGGCTTGTGCCGAGCGATGT	0.522																																																	0													95.0	94.0	94.0					11																	103908368		2202	4299	6501	SO:0001583	missense	414301				CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.818C>T	11.37:g.103908368C>T	ENSP00000302805:p.Ala273Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	pfam_Peptidase_aspartic_euk-pred,pfam_Ubiquitin,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.A273V	ENST00000302259.3	37	c.818	CCDS31660.1	11	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894314	0.72639	.	.	ENSG00000170967	ENST00000302259	T	0.59772	0.24	5.21	5.21	0.72293	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.82167	0.4978	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86226	0.1634	10	0.87932	D	0	-13.2865	16.6709	0.85266	0.0:1.0:0.0:0.0	.	273	Q8WTU0	DDI1_HUMAN	V	273	ENSP00000302805:A273V	ENSP00000302805:A273V	A	+	2	0	DDI1	103413578	1.000000	0.71417	0.946000	0.38457	0.183000	0.23260	6.981000	0.76166	2.884000	0.98904	0.655000	0.94253	GCC	DDI1	-	pfam_Peptidase_aspartic_euk-pred,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic		0.522	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDI1	HGNC	protein_coding	OTTHUMT00000387326.1	C	NM_001001711		103908368	+1	no_errors	ENST00000302259	ensembl	human	known	70_37	missense	SNP	0.999	T
DOCK4	9732	genome.wustl.edu	37	7	111508135	111508135	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr7:111508135C>T	ENST00000437633.1	-	22	2441	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	DOCK4_ENST00000428084.1_Missense_Mutation_p.E729K|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	729					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CGGAACTCCTCTTCGTTTTGC	0.408																																																	0													60.0	62.0	62.0					7																	111508135		1865	4109	5974	SO:0001583	missense	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2185G>A	7.37:g.111508135C>T	ENSP00000404179:p.Glu729Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O14584|O94824|Q8NB45	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain	p.E729K	ENST00000437633.1	37	c.2185	CCDS47688.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.531491	0.96446	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.03152	4.03;4.04	5.65	5.65	0.86999	.	0.049954	0.85682	D	0.000000	T	0.14227	0.0344	L	0.50919	1.6	0.80722	D	1	D;D;P;D	0.71674	0.998;0.993;0.768;0.992	D;P;B;D	0.65684	0.937;0.901;0.418;0.933	T	0.00408	-1.1758	10	0.39692	T	0.17	.	20.0822	0.97779	0.0:1.0:0.0:0.0	.	729;729;729;729	Q149N2;Q149N5;Q8N1I0;Q8N1I0-2	.;.;DOCK4_HUMAN;.	K	717;729;729;717;728	ENSP00000410746:E729K;ENSP00000404179:E729K	ENSP00000345432:E717K	E	-	1	0	DOCK4	111295371	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.445000	0.80570	2.826000	0.97356	0.563000	0.77884	GAG	DOCK4	-	NULL		0.408	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	C	NM_014705		111508135	-1	no_errors	ENST00000428084	ensembl	human	known	70_37	missense	SNP	1.000	T
DPY19L3	147991	genome.wustl.edu	37	19	32954774	32954774	+	Splice_Site	SNP	G	G	C			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr19:32954774G>C	ENST00000342179.5	+	14	1660		c.e14-1		DPY19L3_ENST00000590651.1_Splice_Site|DPY19L3_ENST00000586987.1_Splice_Site|DPY19L3_ENST00000392250.2_Splice_Site	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TGTTCTTGCAGAATGAAGTAC	0.433																																																	0													218.0	202.0	208.0					19																	32954774		2203	4300	6503	SO:0001630	splice_region_variant	147991				CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1446-1G>C	19.37:g.32954774G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DC7|Q6ZTB7|Q6ZTS2	Splice_Site	SNP	-	e13-1	ENST00000342179.5	37	c.1446-1	CCDS12422.1	19	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463101	0.63513	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1687	0.89737	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DPY19L3	37646614	1.000000	0.71417	0.999000	0.59377	0.647000	0.38526	8.503000	0.90509	2.284000	0.76573	0.557000	0.71058	.	DPY19L3	-	-		0.433	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L3	HGNC	protein_coding	OTTHUMT00000450311.1	G	NM_207325	Intron	32954774	+1	no_errors	ENST00000342179	ensembl	human	known	70_37	splice_site	SNP	1.000	C
DR1	1810	genome.wustl.edu	37	1	93812311	93812311	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr1:93812311G>C	ENST00000370272.4	+	1	867	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	RP4-717I23.3_ENST00000413606.1_RNA|DR1_ENST00000370267.1_Missense_Mutation_p.E37Q|RP4-717I23.3_ENST00000451302.2_RNA	NM_001938.2	NP_001929.1	Q01658	NC2B_HUMAN	down-regulator of transcription 1, TBP-binding (negative cofactor 2)	37					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)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)	4		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)		CGATGCTCGAGAGCTGGTGGT	0.453																																																	0													101.0	94.0	96.0					1																	93812311		2203	4300	6503	SO:0001583	missense	1810			M97388	CCDS744.1	1p22.1	2008-02-05			ENSG00000117505	ENSG00000117505			3017	protein-coding gene	gene with protein product		601482				1339312, 9040789	Standard	NM_001938		Approved	NC2, NC2-BETA	uc001dpu.3	Q01658	OTTHUMG00000010862	ENST00000370272.4:c.109G>C	1.37:g.93812311G>C	ENSP00000359295:p.Glu37Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_CBFA_NFYB_domain,superfamily_Histone-fold,prints_Transcrpt_fac_CBFA/NFYB_topo	p.E37Q	ENST00000370272.4	37	c.109	CCDS744.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.210380	0.95069	.	.	ENSG00000117505	ENST00000370272;ENST00000370267	T;T	0.48836	0.8;0.8	5.76	5.76	0.90799	Histone-fold (2);Transcription factor CBF/NF-Y/archaeal histone (1);	0.000000	0.85682	D	0.000000	T	0.61640	0.2363	M	0.80982	2.52	0.80722	D	1	P	0.51351	0.944	P	0.55749	0.783	T	0.64257	-0.6450	10	0.56958	D	0.05	-13.7791	19.9759	0.97304	0.0:0.0:1.0:0.0	.	37	Q01658	NC2B_HUMAN	Q	37	ENSP00000359295:E37Q;ENSP00000359290:E37Q	ENSP00000359290:E37Q	E	+	1	0	DR1	93584899	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.564000	0.98151	2.713000	0.92767	0.655000	0.94253	GAG	DR1	-	pfam_CBFA_NFYB_domain,superfamily_Histone-fold		0.453	DR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DR1	HGNC	protein_coding	OTTHUMT00000029976.2	G	NM_001938		93812311	+1	no_errors	ENST00000370267	ensembl	human	known	70_37	missense	SNP	1.000	C
EDDM3A	10876	genome.wustl.edu	37	14	21216063	21216063	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr14:21216063G>C	ENST00000326842.2	+	2	451	c.324G>C	c.(322-324)gaG>gaC	p.E108D		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	108					sperm displacement (GO:0007321)	extracellular space (GO:0005615)				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GTCACTGGGAGAAGTACAACA	0.448																																																	0													88.0	74.0	79.0					14																	21216063		2203	4300	6503	SO:0001583	missense	10876			X76383	CCDS9556.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181562	ENSG00000181562			16978	protein-coding gene	gene with protein product		611580	"""family with sequence similarity 12, member A"""	FAM12A		7514008	Standard	NM_006683		Approved	HE3-ALPHA	uc001vyc.3	Q14507	OTTHUMG00000029581	ENST00000326842.2:c.324G>C	14.37:g.21216063G>C	ENSP00000315098:p.Glu108Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4KN33	Missense_Mutation	SNP	superfamily_RNaseA_domain	p.E108D	ENST00000326842.2	37	c.324	CCDS9556.1	14	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556026	0.45487	.	.	ENSG00000181562	ENST00000326842	T	0.73363	-0.74	2.46	1.39	0.22231	Ribonuclease A, domain (2);	1.486010	0.04170	N	0.324609	T	0.74450	0.3718	L	0.53249	1.67	0.09310	N	1	P	0.41569	0.755	P	0.46208	0.507	T	0.63400	-0.6646	10	0.62326	D	0.03	.	5.6559	0.17642	0.0:0.0:0.6785:0.3215	.	108	Q14507	EP3A_HUMAN	D	108	ENSP00000315098:E108D	ENSP00000315098:E108D	E	+	3	2	EDDM3A	20285903	0.000000	0.05858	0.011000	0.14972	0.173000	0.22820	-0.003000	0.12901	1.360000	0.45960	0.313000	0.20887	GAG	EDDM3A	-	superfamily_RNaseA_domain		0.448	EDDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDDM3A	HGNC	protein_coding	OTTHUMT00000073742.3	G			21216063	+1	no_errors	ENST00000326842	ensembl	human	known	70_37	missense	SNP	0.004	C
EMR1	2015	genome.wustl.edu	37	19	6901986	6901986	+	Silent	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr19:6901986C>T	ENST00000312053.4	+	6	652	c.615C>T	c.(613-615)tcC>tcT	p.S205S	EMR1_ENST00000381407.5_Intron|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000250572.8_Silent_p.S205S|EMR1_ENST00000381404.4_Silent_p.S153S	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	205	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.S205S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GATTTGAATCCAGCAGTGGCC	0.478																																																	1	Substitution - coding silent(1)	large_intestine(1)											194.0	197.0	196.0					19																	6901986		2203	4300	6503	SO:0001819	synonymous_variant	2015			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.615C>T	19.37:g.6901986C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.S205	ENST00000312053.4	37	c.615	CCDS12175.1	19																																																																																			EMR1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.478	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	HGNC	protein_coding	OTTHUMT00000458485.1	C			6901986	+1	no_errors	ENST00000312053	ensembl	human	known	70_37	silent	SNP	0.000	T
SAGE2P	644717	genome.wustl.edu	37	X	134814923	134814923	+	IGR	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chrX:134814923C>T								DDX26B (98489 upstream) : CT45A1 (32261 downstream)																							CTCTTGGATTCTCTGGAACGT	0.423													.|||	1	0.000264901	0.0	0.0	3775	,	,		16831	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001628	intergenic_variant	0																															X.37:g.134814923C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		X																																																																																			RP11-432N13.4	-	-	0	0.423					ENSG00000198022	Clone_based_vega_gene			C			134814923	-1	no_errors	ENST00000444691	ensembl	human	putative	70_37	rna	SNP	0.000	T
RP11-435B5.5	0	genome.wustl.edu	37	1	143378008	143378008	+	lincRNA	SNP	A	A	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr1:143378008A>T	ENST00000428624.1	+	0	728				RP11-435B5.3_ENST00000430699.1_lincRNA|RP11-435B5.4_ENST00000423249.1_lincRNA																							GATTTTCATAATCAGGAAGAA	0.318																																																	0																																												0																															1.37:g.143378008A>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000428624.1	37	NULL		1																																																																																			BX004987.5	-	-		0.318	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	ENSG00000238261	Clone_based_vega_gene	lincRNA	OTTHUMT00000037971.1	A			143378008	+1	no_errors	ENST00000428624	ensembl	human	known	70_37	rna	SNP	0.000	T
F2R	2149	genome.wustl.edu	37	5	76028349	76028349	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr5:76028349G>C	ENST00000319211.4	+	2	564	c.299G>C	c.(298-300)tGg>tCg	p.W100S		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	100					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	ACCAGCTCCTGGCTGACACTC	0.448																																																	0													144.0	144.0	144.0					5																	76028349		2203	4300	6503	SO:0001583	missense	2149			M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"""GPCR / Class A : Protease activated receptors"""	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.299G>C	5.37:g.76028349G>C	ENSP00000321326:p.Trp100Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thrmbn_rcpt,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor	p.W100S	ENST00000319211.4	37	c.299	CCDS4032.1	5	.	.	.	.	.	.	.	.	.	.	G	16.35	3.097644	0.56075	.	.	ENSG00000181104	ENST00000319211	T	0.36520	1.25	4.89	4.89	0.63831	.	0.144057	0.49916	D	0.000138	T	0.61324	0.2338	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64175	-0.6469	10	0.66056	D	0.02	-20.5777	18.5995	0.91242	0.0:0.0:1.0:0.0	.	100	P25116	PAR1_HUMAN	S	100	ENSP00000321326:W100S	ENSP00000321326:W100S	W	+	2	0	F2R	76064105	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	6.627000	0.74258	2.684000	0.91462	0.561000	0.74099	TGG	F2R	-	prints_Thrmbn_rcpt,prints_Protea_act_rcpt		0.448	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2R	HGNC	protein_coding	OTTHUMT00000254068.2	G			76028349	+1	no_errors	ENST00000319211	ensembl	human	known	70_37	missense	SNP	1.000	C
FEM1B	10116	genome.wustl.edu	37	15	68583140	68583140	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr15:68583140C>T	ENST00000306917.4	+	2	2059	c.1444C>T	c.(1444-1446)Cgt>Tgt	p.R482C		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	482					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TCCCAGAACTCGTGAAGGTTT	0.438																																																	0													163.0	147.0	153.0					15																	68583140		2200	4298	6498	SO:0001583	missense	10116				CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"""Ankyrin repeat domain containing"""	3649	protein-coding gene	gene with protein product		613539	"""FEM-1 (C. elegans) homolog b"""			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.1444C>T	15.37:g.68583140C>T	ENSP00000307298:p.Arg482Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O43146	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R482C	ENST00000306917.4	37	c.1444	CCDS10228.1	15	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969969	0.53614	.	.	ENSG00000169018	ENST00000306917	T	0.53857	0.6	5.95	5.95	0.96441	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.67915	0.2944	L	0.61218	1.895	0.80722	D	1	D	0.76494	0.999	P	0.57846	0.828	T	0.68116	-0.5494	10	0.62326	D	0.03	-31.1843	19.3601	0.94434	0.0:1.0:0.0:0.0	.	482	Q9UK73	FEM1B_HUMAN	C	482	ENSP00000307298:R482C	ENSP00000307298:R482C	R	+	1	0	FEM1B	66370194	0.997000	0.39634	1.000000	0.80357	0.981000	0.71138	3.688000	0.54699	2.826000	0.97356	0.491000	0.48974	CGT	FEM1B	-	superfamily_Ankyrin_rpt-contain_dom		0.438	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1B	HGNC	protein_coding	OTTHUMT00000257065.1	C			68583140	+1	no_errors	ENST00000306917	ensembl	human	known	70_37	missense	SNP	1.000	T
FRY	10129	genome.wustl.edu	37	13	32836601	32836601	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr13:32836601G>A	ENST00000380250.3	+	53	8264	c.7768G>A	c.(7768-7770)Gag>Aag	p.E2590K	FRY_ENST00000542859.1_5'Flank	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2590						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCAGATTTCTGAGGGTTCAAA	0.398																																																	0													85.0	81.0	82.0					13																	32836601		1857	4108	5965	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.7768G>A	13.37:g.32836601G>A	ENSP00000369600:p.Glu2590Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E2590K	ENST00000380250.3	37	c.7768	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746114	0.89663	.	.	ENSG00000073910	ENST00000380250;ENST00000380235	T	0.23552	1.9	6.03	6.03	0.97812	.	0.099552	0.64402	D	0.000002	T	0.30448	0.0765	L	0.50333	1.59	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.02617	-1.1133	10	0.54805	T	0.06	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	371;2590	Q8NB82;Q5TBA9	.;FRY_HUMAN	K	2590;234	ENSP00000369600:E2590K	ENSP00000369567:E234K	E	+	1	0	FRY	31734601	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	6.666000	0.74446	2.861000	0.98227	0.655000	0.94253	GAG	FRY	-	NULL		0.398	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	G	NM_023037		32836601	+1	no_errors	ENST00000380250	ensembl	human	known	70_37	missense	SNP	1.000	A
FSTL1	11167	genome.wustl.edu	37	3	120122095	120122095	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr3:120122095C>G	ENST00000295633.3	-	8	1044	c.688G>C	c.(688-690)Gag>Cag	p.E230Q	FSTL1_ENST00000424703.2_Missense_Mutation_p.E195Q	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	230					BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		ATACTCTTCTCAGGAGGGTTG	0.448																																																	0													92.0	92.0	92.0					3																	120122095		2203	4300	6503	SO:0001583	missense	11167			U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"""EF-hand domain containing"""	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.688G>C	3.37:g.120122095C>G	ENSP00000295633:p.Glu230Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K523|B4DTT5|D3DN90|Q549Z0	Missense_Mutation	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pfscan_EF_HAND_2	p.E230Q	ENST00000295633.3	37	c.688	CCDS2998.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.13|16.13	3.036038|3.036038	0.54896|0.54896	.|.	.|.	ENSG00000163430|ENSG00000163430	ENST00000295633;ENST00000539471;ENST00000424703|ENST00000480823	T;T|.	0.64803|.	-0.12;-0.12|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.318910|.	0.38381|.	N|.	0.001709|.	T|.	0.73745|.	0.3626|.	M|M	0.64997|0.64997	1.995|1.995	0.58432|0.58432	D|D	0.999999|0.999999	P;P|.	0.45569|.	0.861;0.75|.	B;B|.	0.38500|.	0.275;0.167|.	T|.	0.69676|.	-0.5081|.	10|.	0.51188|.	T|.	0.08|.	-19.7611|-19.7611	18.0158|18.0158	0.89239|0.89239	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	195;230|.	B4DTT5;Q12841|.	.;FSTL1_HUMAN|.	Q|S	230;173;195|17	ENSP00000295633:E230Q;ENSP00000394355:E195Q|.	ENSP00000295633:E230Q|.	E|X	-|-	1|2	0|2	FSTL1|FSTL1	121604785|121604785	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.657000|5.657000	0.67996|0.67996	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAG|TGA	FSTL1	-	NULL		0.448	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL1	HGNC	protein_coding	OTTHUMT00000355399.1	C	NM_007085		120122095	-1	no_errors	ENST00000295633	ensembl	human	known	70_37	missense	SNP	1.000	G
GFPT2	9945	genome.wustl.edu	37	5	179731829	179731829	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr5:179731829C>T	ENST00000253778.8	-	17	1954	c.1785G>A	c.(1783-1785)atG>atA	p.M595I		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	595	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	AAGGATCCTTCATAATGACCA	0.577																																																	0													142.0	153.0	150.0					5																	179731829		2050	4190	6240	SO:0001583	missense	9945			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1785G>A	5.37:g.179731829C>T	ENSP00000253778:p.Met595Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53XM2|Q9BWS4	Missense_Mutation	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.M595I	ENST00000253778.8	37	c.1785	CCDS43411.1	5	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488518	0.84854	.	.	ENSG00000131459	ENST00000253778	T	0.62639	0.01	5.75	5.75	0.90469	Sugar isomerase (SIS) (2);	0.000000	0.85682	D	0.000000	T	0.63838	0.2545	M	0.68593	2.085	0.80722	D	1	P	0.36535	0.557	B	0.35688	0.208	T	0.62599	-0.6820	9	.	.	.	-47.9146	19.9421	0.97168	0.0:1.0:0.0:0.0	.	595	O94808	GFPT2_HUMAN	I	595	ENSP00000253778:M595I	.	M	-	3	0	GFPT2	179664435	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.711000	0.84669	2.714000	0.92807	0.561000	0.74099	ATG	GFPT2	-	pfam_SIS,tigrfam_GlmS_trans		0.577	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFPT2	HGNC	protein_coding	OTTHUMT00000373444.4	C	NM_005110		179731829	-1	no_errors	ENST00000253778	ensembl	human	known	70_37	missense	SNP	1.000	T
GPRIN3	285513	genome.wustl.edu	37	4	90169399	90169399	+	Silent	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr4:90169399C>T	ENST00000609438.1	-	2	2381	c.1863G>A	c.(1861-1863)aaG>aaA	p.K621K	GPRIN3_ENST00000333209.4_Silent_p.K621K	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	621										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		ATGGGGTCTTCTTGCCAGAAC	0.577																																																	0													82.0	85.0	84.0					4																	90169399		2203	4300	6503	SO:0001819	synonymous_variant	285513			AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1863G>A	4.37:g.90169399C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IVE4	Silent	SNP	NULL	p.K621	ENST00000609438.1	37	c.1863	CCDS34030.1	4																																																																																			GPRIN3	-	NULL		0.577	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN3	HGNC	protein_coding	OTTHUMT00000363540.2	C	NM_198281		90169399	-1	no_errors	ENST00000333209	ensembl	human	known	70_37	silent	SNP	0.011	T
HCN4	10021	genome.wustl.edu	37	15	73615839	73615839	+	Silent	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr15:73615839G>A	ENST00000261917.3	-	8	3588	c.2595C>T	c.(2593-2595)ttC>ttT	p.F865F		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	865					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CGGGGGCAGAGAATCCAGCCA	0.687																																																	0													50.0	52.0	51.0					15																	73615839		2197	4292	6489	SO:0001819	synonymous_variant	10021			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2595C>T	15.37:g.73615839G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UMQ7	Silent	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.F865	ENST00000261917.3	37	c.2595	CCDS10248.1	15																																																																																			HCN4	-	NULL		0.687	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN4	HGNC	protein_coding	OTTHUMT00000268900.2	G	NM_005477		73615839	-1	no_errors	ENST00000261917	ensembl	human	known	70_37	silent	SNP	0.993	A
HIST1H4K	8362	genome.wustl.edu	37	6	27798995	27798995	+	Nonstop_Mutation	SNP	C	C	G			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr6:27798995C>G	ENST00000357549.2	-	1	310	c.311G>C	c.(310-312)tGa>tCa	p.*104S		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	0					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						AAGGGACGCTCAACCACCGAA	0.552																																																	0													37.0	40.0	39.0					6																	27798995		2203	4300	6503	SO:0001578	stop_lost	8362			X60483	CCDS4631.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197914	ENSG00000273542		"""Histones / Replication-dependent"""	4784	protein-coding gene	gene with protein product		602825	"""H4 histone family, member D"", ""histone 1, H4k"""	H4FD		9439656, 12408966	Standard	NM_003541		Approved	H4/d, H4F2iii, dJ160A22.1	uc003njr.3	P62805	OTTHUMG00000014488	ENST00000357549.2:c.311G>C	6.37:g.27798995C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Nonstop_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.*104S	ENST00000357549.2	37	c.311	CCDS4631.1	6	.	.	.	.	.	.	.	.	.	.	.	1.798	-0.477920	0.04414	.	.	ENSG00000197914	ENST00000357549	.	.	.	4.26	-6.96	0.01622	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7158	0.77667	0.0:0.3071:0.0:0.6929	.	.	.	.	S	104	.	.	X	-	2	2	HIST1H4K	27906974	0.850000	0.29656	0.000000	0.03702	0.000000	0.00434	0.033000	0.13754	-2.164000	0.00782	-1.851000	0.00568	TGA	HIST1H4K	-	NULL		0.552	HIST1H4K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4K	HGNC	protein_coding	OTTHUMT00000040156.1	C	NM_003541		27798995	-1	no_errors	ENST00000357549	ensembl	human	known	70_37	nonstop	SNP	0.004	G
IGSF1	3547	genome.wustl.edu	37	X	130410033	130410033	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chrX:130410033C>G	ENST00000361420.3	-	15	2877	c.2798G>C	c.(2797-2799)gGa>gCa	p.G933A	IGSF1_ENST00000370910.1_Missense_Mutation_p.G924A|IGSF1_ENST00000370903.3_Missense_Mutation_p.G938A|IGSF1_ENST00000370904.1_Missense_Mutation_p.G924A|IGSF1_ENST00000467244.1_5'UTR			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	933	Ig-like C2-type 9.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTCCTCTGCTCCAACAGTGTG	0.517																																																	0													98.0	75.0	83.0					X																	130410033		2203	4300	6503	SO:0001583	missense	3547			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2798G>C	X.37:g.130410033C>G	ENSP00000355010:p.Gly933Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G938A	ENST00000361420.3	37	c.2813	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	C	4.174	0.030908	0.08101	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	5.2	2.14	0.27477	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.532230	0.03451	N	0.210758	T	0.13927	0.0337	L	0.39566	1.225	0.09310	N	1	B;B;B	0.30824	0.073;0.043;0.296	B;B;B	0.33846	0.074;0.077;0.171	T	0.29971	-0.9994	10	0.49607	T	0.09	.	3.9271	0.09269	0.0:0.569:0.1933:0.2377	.	924;377;933	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	A	924;933;924;938	ENSP00000359947:G924A;ENSP00000355010:G933A;ENSP00000359941:G924A;ENSP00000359940:G938A	ENSP00000355010:G933A	G	-	2	0	IGSF1	130237714	0.002000	0.14202	0.024000	0.17045	0.818000	0.46254	1.018000	0.30002	0.474000	0.27392	0.600000	0.82982	GGA	IGSF1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.517	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	HGNC	protein_coding	OTTHUMT00000058288.1	C			130410033	-1	no_errors	ENST00000370903	ensembl	human	known	70_37	missense	SNP	0.011	G
IQSEC3	440073	genome.wustl.edu	37	12	274981	274981	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr12:274981G>A	ENST00000538872.1	+	11	3014	c.2896G>A	c.(2896-2898)Gag>Aag	p.E966K	IQSEC3_ENST00000326261.4_Missense_Mutation_p.E966K|RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000382841.2_Missense_Mutation_p.E663K|RP11-598F7.6_ENST00000537295.1_lincRNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	966	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GGGCTCGGACGAGATGCAGAA	0.582																																																	0													77.0	73.0	74.0					12																	274981		2203	4300	6503	SO:0001583	missense	440073			AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2896G>A	12.37:g.274981G>A	ENSP00000437554:p.Glu966Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7	p.E966K	ENST00000538872.1	37	c.2896	CCDS53728.1	12	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609791	0.87258	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.40476	1.03;1.03;1.03	5.39	5.39	0.77823	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.150473	0.64402	D	0.000018	T	0.64349	0.2590	M	0.75264	2.295	0.80722	D	1	D;D	0.69078	0.997;0.986	P;P	0.61533	0.89;0.847	T	0.67791	-0.5579	10	0.87932	D	0	.	19.5308	0.95228	0.0:0.0:1.0:0.0	.	966;663	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	K	966;966;663	ENSP00000437554:E966K;ENSP00000315662:E966K;ENSP00000372292:E663K	ENSP00000315662:E966K	E	+	1	0	IQSEC3	145242	1.000000	0.71417	0.962000	0.40283	0.216000	0.24613	9.805000	0.99149	2.684000	0.91462	0.650000	0.86243	GAG	IQSEC3	-	NULL		0.582	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC3	HGNC	protein_coding	OTTHUMT00000397382.3	G	XM_495902		274981	+1	no_errors	ENST00000326261	ensembl	human	known	70_37	missense	SNP	1.000	A
ITGA10	8515	genome.wustl.edu	37	1	145532812	145532812	+	Silent	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr1:145532812C>T	ENST00000369304.3	+	10	1306	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F	ITGA10_ENST00000538811.1_Silent_p.F246F|ITGA10_ENST00000539363.1_Silent_p.F234F	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	377					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGATTGGTTTCTCCACTCATC	0.468																																																	0													122.0	120.0	121.0					1																	145532812		2203	4300	6503	SO:0001819	synonymous_variant	8515			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1131C>T	1.37:g.145532812C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.F377	ENST00000369304.3	37	c.1131	CCDS918.1	1																																																																																			ITGA10	-	NULL		0.468	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	HGNC	protein_coding	OTTHUMT00000038537.2	C	NM_003637		145532812	+1	no_errors	ENST00000369304	ensembl	human	known	70_37	silent	SNP	1.000	T
ITGA7	3679	genome.wustl.edu	37	12	56087878	56087878	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr12:56087878G>A	ENST00000555728.1	-	20	2622	c.2594C>T	c.(2593-2595)tCt>tTt	p.S865F	ITGA7_ENST00000257880.7_Missense_Mutation_p.S865F|ITGA7_ENST00000347027.6_Missense_Mutation_p.S815F|ITGA7_ENST00000553804.1_Missense_Mutation_p.S825F|ITGA7_ENST00000394230.2_Missense_Mutation_p.S825F|ITGA7_ENST00000452168.2_Missense_Mutation_p.S728F|ITGA7_ENST00000257879.6_Missense_Mutation_p.S821F|ITGA7_ENST00000394229.2_Missense_Mutation_p.S821F			Q13683	ITA7_HUMAN	integrin, alpha 7	865					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CACCACACCAGAGAAGAAGAG	0.602																																																	0													144.0	98.0	114.0					12																	56087878		2203	4300	6503	SO:0001583	missense	3679				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2594C>T	12.37:g.56087878G>A	ENSP00000452387:p.Ser865Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.S865F	ENST00000555728.1	37	c.2594		12	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560128	0.45590	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.37	4.47	0.54385	Integrin alpha-2 (1);	0.150255	0.47455	D	0.000225	T	0.64571	0.2610	M	0.73217	2.22	0.47698	D	0.99949	D;D;D;D	0.89917	0.962;0.969;0.982;1.0	D;D;D;D	0.91635	0.95;0.921;0.934;0.999	T	0.67162	-0.5740	10	0.87932	D	0	.	9.3253	0.37988	0.0:0.1582:0.6778:0.164	.	728;865;825;884	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	F	825;821;815;728;865;825;821;694;865	ENSP00000452120:S825F;ENSP00000257879:S821F;ENSP00000343009:S815F;ENSP00000393844:S728F;ENSP00000257880:S865F;ENSP00000377777:S825F;ENSP00000377776:S821F;ENSP00000452387:S865F	ENSP00000257879:S821F	S	-	2	0	ITGA7	54374145	1.000000	0.71417	0.947000	0.38551	0.203000	0.24098	4.877000	0.63086	1.374000	0.46228	-0.282000	0.10007	TCT	ITGA7	-	pfam_Integrin_alpha-2		0.602	ITGA7-014	KNOWN	basic	protein_coding	ITGA7	HGNC	protein_coding	OTTHUMT00000410138.1	G	NM_002206		56087878	-1	no_errors	ENST00000555728	ensembl	human	known	70_37	missense	SNP	0.996	A
ITGBL1	9358	genome.wustl.edu	37	13	102344970	102344970	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr13:102344970C>T	ENST00000376180.3	+	8	1270	c.1051C>T	c.(1051-1053)Cca>Tca	p.P351S	ITGBL1_ENST00000545560.2_Missense_Mutation_p.P210S|ITGBL1_ENST00000376162.3_Missense_Mutation_p.P258S	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	351	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGCTATCCTCCAGGAGATCG	0.483																																																	0													219.0	181.0	194.0					13																	102344970		2203	4300	6503	SO:0001583	missense	9358			AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.1051C>T	13.37:g.102344970C>T	ENSP00000365351:p.Pro351Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	pfam_EGF_extracell,smart_EG-like_dom	p.P351S	ENST00000376180.3	37	c.1051	CCDS9499.1	13	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341914	0.41498	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;D;D	0.84589	-1.87;-1.87;-1.87	5.51	5.51	0.81932	EGF, extracellular (1);	0.050856	0.85682	D	0.000000	T	0.79885	0.4523	L	0.33710	1.025	0.80722	D	1	B;B	0.26744	0.134;0.158	B;B	0.32090	0.03;0.14	T	0.73830	-0.3859	10	0.17832	T	0.49	.	16.7006	0.85349	0.0:1.0:0.0:0.0	.	210;351	B3KTP1;O95965	.;ITGBL_HUMAN	S	351;259;210;210;258	ENSP00000365351:P351S;ENSP00000439903:P210S;ENSP00000365332:P258S	ENSP00000365332:P258S	P	+	1	0	ITGBL1	101142971	0.998000	0.40836	0.204000	0.23530	0.906000	0.53458	4.977000	0.63792	2.765000	0.95021	0.655000	0.94253	CCA	ITGBL1	-	pfam_EGF_extracell		0.483	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGBL1	HGNC	protein_coding	OTTHUMT00000045669.2	C	NM_004791		102344970	+1	no_errors	ENST00000376180	ensembl	human	known	70_37	missense	SNP	0.914	T
CEP162	22832	genome.wustl.edu	37	6	84913788	84913788	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr6:84913788C>T	ENST00000403245.3	-	7	712	c.598G>A	c.(598-600)Gag>Aag	p.E200K	KIAA1009_ENST00000257766.4_Missense_Mutation_p.E124K	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)		CCAACATACTCATCTTCAAAA	0.328																																																	0													96.0	98.0	98.0					6																	84913788		2203	4299	6502	SO:0001583	missense	22832																														ENST00000403245.3:c.598G>A	6.37:g.84913788C>T	ENSP00000385215:p.Glu200Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E200K	ENST00000403245.3	37	c.598	CCDS34494.2	6	.	.	.	.	.	.	.	.	.	.	C	15.84	2.953238	0.53293	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.16073	2.37;2.37	5.61	5.61	0.85477	.	0.291939	0.28125	N	0.016508	T	0.22975	0.0555	M	0.67953	2.075	0.32100	N	0.590714	P;D	0.63880	0.763;0.993	B;P	0.58520	0.382;0.84	T	0.04281	-1.0963	10	0.56958	D	0.05	-17.3484	11.8443	0.52374	0.0:0.9187:0.0:0.0813	.	200;200	Q5TB80;C9JFM9	QN1_HUMAN;.	K	124;200	ENSP00000257766:E124K;ENSP00000385215:E200K	ENSP00000257766:E124K	E	-	1	0	KIAA1009	84970507	0.994000	0.37717	0.987000	0.45799	0.288000	0.27193	2.738000	0.47401	2.635000	0.89317	0.563000	0.77884	GAG	KIAA1009	-	NULL		0.328	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1009	HGNC	protein_coding	OTTHUMT00000317315.1	C			84913788	-1	no_errors	ENST00000403245	ensembl	human	known	70_37	missense	SNP	0.853	T
KIF16B	55614	genome.wustl.edu	37	20	16485148	16485148	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr20:16485148G>C	ENST00000354981.2	-	10	1202	c.1045C>G	c.(1045-1047)Ctt>Gtt	p.L349V	KIF16B_ENST00000355755.3_Missense_Mutation_p.L349V|KIF16B_ENST00000408042.1_Missense_Mutation_p.L349V|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	349	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GCATAGCGAAGAGTACTTAGG	0.398																																																	0													227.0	203.0	211.0					20																	16485148		2203	4300	6503	SO:0001583	missense	55614			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1045C>G	20.37:g.16485148G>C	ENSP00000347076:p.Leu349Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L349V	ENST00000354981.2	37	c.1045	CCDS13122.1	20	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548312	0.86127	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	D;D;D	0.85861	-2.04;-2.04;-2.04	5.87	5.87	0.94306	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.95427	0.8515	H	0.96239	3.79	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.91635	0.998;0.998;0.998;0.999	D	0.95894	0.8909	10	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	349;349;349;349	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	V	349	ENSP00000347076:L349V;ENSP00000347995:L349V;ENSP00000384164:L349V	ENSP00000347076:L349V	L	-	1	0	KIF16B	16433148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.919000	0.87513	2.941000	0.99782	0.655000	0.94253	CTT	KIF16B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom		0.398	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2	G	NM_017683		16485148	-1	no_errors	ENST00000408042	ensembl	human	known	70_37	missense	SNP	1.000	C
KIF3A	11127	genome.wustl.edu	37	5	132036232	132036232	+	Intron	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr5:132036232C>T	ENST00000378746.4	-	14	2076				KIF3A_ENST00000378735.1_Intron|KIF3A_ENST00000403231.1_Intron|KIF3A_ENST00000487055.1_5'UTR|AC004237.1_ENST00000431165.1_RNA	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A						anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGATTCTCATCTGATTCATCT	0.383																																																	0																																										SO:0001627	intron_variant	11127			AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"""Kinesins"""	6319	protein-coding gene	gene with protein product	"""kinesin family protein 3A"""	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.1857+106G>A	5.37:g.132036232C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	RNA	SNP	-	NULL	ENST00000378746.4	37	NULL	CCDS34235.1	5																																																																																			KIF3A	-	-		0.383	KIF3A-001	KNOWN	basic|CCDS	protein_coding	KIF3A	HGNC	protein_coding	OTTHUMT00000132788.3	C	NM_007054		132036232	-1	no_errors	ENST00000487055	ensembl	human	known	70_37	rna	SNP	0.015	T
KLRD1	3824	genome.wustl.edu	37	12	10464230	10464230	+	Intron	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr12:10464230G>A	ENST00000381907.4	+	5	517				KLRD1_ENST00000336164.4_Intron|KLRD1_ENST00000350274.5_Intron|KLRD1_ENST00000381908.3_Intron|KLRD1_ENST00000543777.1_Intron|KLRD1_ENST00000543420.1_Intron|KLRD1_ENST00000538997.1_3'UTR	NM_001114396.1	NP_001107868	Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D, member 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						TGCTGAGTCTGATTTTCTACA	0.353																																																	0													45.0	42.0	43.0					12																	10464230		2203	4300	6503	SO:0001627	intron_variant	3824			U30610	CCDS8621.1, CCDS8622.1	12p13	2009-12-03						"""Killer cell lectin-like receptors"", ""CD molecules"""	6378	protein-coding gene	gene with protein product		602894		CD94		7589107	Standard	NM_002262		Approved		uc001qxx.4	Q13241		ENST00000381907.4:c.315+16G>A	12.37:g.10464230G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O43321|O43773|Q9UBE3|Q9UEQ0	RNA	SNP	-	NULL	ENST00000381907.4	37	NULL	CCDS8621.1	12																																																																																			KLRD1	-	-		0.353	KLRD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLRD1	HGNC	protein_coding	OTTHUMT00000399684.2	G	NM_002262		10464230	+1	no_errors	ENST00000538997	ensembl	human	known	70_37	rna	SNP	0.000	A
LAMC1	3915	genome.wustl.edu	37	1	183111854	183111854	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr1:183111854C>T	ENST00000258341.4	+	28	5016	c.4759C>T	c.(4759-4761)Cgc>Tgc	p.R1587C	RP11-181K3.4_ENST00000457852.3_RNA	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1587	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	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)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GAAGGACATTCGCAATCTGGA	0.498																																																	0													124.0	108.0	113.0					1																	183111854		2203	4300	6503	SO:0001583	missense	3915			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.4759C>T	1.37:g.183111854C>T	ENSP00000258341:p.Arg1587Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VYE7	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.R1587C	ENST00000258341.4	37	c.4759	CCDS1351.1	1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356551	0.41700	.	.	ENSG00000135862	ENST00000258341	T	0.31247	1.5	5.57	5.57	0.84162	.	0.437819	0.26079	N	0.026465	T	0.25382	0.0617	L	0.46157	1.445	0.35275	D	0.780854	B	0.32893	0.389	B	0.27796	0.083	T	0.35895	-0.9770	10	0.56958	D	0.05	.	9.7344	0.40379	0.1488:0.609:0.2422:0.0	.	1587	P11047	LAMC1_HUMAN	C	1587	ENSP00000258341:R1587C	ENSP00000258341:R1587C	R	+	1	0	LAMC1	181378477	0.946000	0.32159	0.678000	0.29963	0.996000	0.88848	2.377000	0.44300	2.611000	0.88343	0.655000	0.94253	CGC	LAMC1	-	NULL		0.498	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC1	HGNC	protein_coding	OTTHUMT00000085954.2	C	NM_002293		183111854	+1	no_errors	ENST00000258341	ensembl	human	known	70_37	missense	SNP	0.941	T
LENG1	79165	genome.wustl.edu	37	19	54659533	54659533	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr19:54659533G>A	ENST00000222224.3	-	4	907	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W		NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	241										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TTGTACCGCCGCCGCCGGTCA	0.682																																																	0													17.0	20.0	19.0					19																	54659533		2202	4295	6497	SO:0001583	missense	79165			AF211966	CCDS12881.1	19q13.4	2008-02-05			ENSG00000105617	ENSG00000105617			15502	protein-coding gene	gene with protein product						10941842	Standard	NM_024316		Approved		uc002qdm.3	Q96BZ8	OTTHUMG00000066486	ENST00000222224.3:c.721C>T	19.37:g.54659533G>A	ENSP00000222224:p.Arg241Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9HCU7	Missense_Mutation	SNP	NULL	p.R241W	ENST00000222224.3	37	c.721	CCDS12881.1	19	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809561	0.50421	.	.	ENSG00000105617	ENST00000222224	T	0.47869	0.83	4.54	1.01	0.19927	.	0.057177	0.64402	D	0.000003	T	0.65302	0.2678	M	0.86178	2.8	0.43080	D	0.994731	D	0.76494	0.999	D	0.67231	0.95	T	0.68062	-0.5508	10	0.72032	D	0.01	-15.8858	8.9759	0.35935	0.0:0.118:0.5573:0.3247	.	241	Q96BZ8	LENG1_HUMAN	W	241	ENSP00000222224:R241W	ENSP00000222224:R241W	R	-	1	2	LENG1	59351345	0.594000	0.26849	0.565000	0.28409	0.602000	0.36980	0.866000	0.27954	0.559000	0.29153	0.655000	0.94253	CGG	LENG1	-	NULL		0.682	LENG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG1	HGNC	protein_coding	OTTHUMT00000142159.1	G	NM_024316		54659533	-1	no_errors	ENST00000222224	ensembl	human	known	70_37	missense	SNP	0.393	A
LRRC37A3	374819	genome.wustl.edu	37	17	62892842	62892842	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr17:62892842C>G	ENST00000584306.1	-	3	1064	c.534G>C	c.(532-534)caG>caC	p.Q178H	LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.Q178H|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000577487.1_5'Flank|RP11-927P21.1_ENST00000584131.1_RNA|LRRC37A3_ENST00000400877.3_Intron|RP11-927P21.1_ENST00000584959.1_RNA	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	178						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TCTGCAAAGTCTGTTTCTGAC	0.493																																																	0													84.0	143.0	125.0					17																	62892842		1603	3639	5242	SO:0001583	missense	374819			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.534G>C	17.37:g.62892842C>G	ENSP00000464535:p.Gln178His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Q178H	ENST00000584306.1	37	c.534	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	6.090	0.384925	0.11524	.	.	ENSG00000176809	ENST00000319651	T	0.61392	0.11	1.39	-1.92	0.07618	.	.	.	.	.	T	0.38825	0.1055	L	0.43152	1.355	0.09310	N	1	P	0.36944	0.574	B	0.31751	0.135	T	0.28681	-1.0036	9	0.59425	D	0.04	.	1.5055	0.02486	0.3066:0.2268:0.0:0.4666	.	178	O60309	L37A3_HUMAN	H	178	ENSP00000325713:Q178H	ENSP00000325713:Q178H	Q	-	3	2	LRRC37A3	60323304	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-1.355000	0.02612	-0.458000	0.07023	0.162000	0.16502	CAG	LRRC37A3	-	NULL		0.493	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	C	NM_199340		62892842	-1	no_errors	ENST00000319651	ensembl	human	known	70_37	missense	SNP	0.000	G
MAEL	84944	genome.wustl.edu	37	1	166973503	166973503	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr1:166973503C>G	ENST00000367872.4	+	6	854	c.610C>G	c.(610-612)Cat>Gat	p.H204D	RNA5SP65_ENST00000363166.1_RNA|MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.H173D	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	204					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TAGATTTATTCATCCCAACCC	0.353																																																	0													83.0	85.0	84.0					1																	166973503		2203	4300	6503	SO:0001583	missense	84944			AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.610C>G	1.37:g.166973503C>G	ENSP00000356846:p.His204Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_CH-domain	p.H204D	ENST00000367872.4	37	c.610	CCDS1257.1	1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258005	0.22965	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624	T;T;T	0.41400	1.01;1.0;1.01	5.7	3.44	0.39384	.	0.509302	0.19302	N	0.117609	T	0.09247	0.0228	N	0.14661	0.345	0.26746	N	0.970296	B;B	0.21821	0.049;0.061	B;B	0.20955	0.023;0.032	T	0.24693	-1.0153	10	0.19590	T	0.45	.	8.8712	0.35316	0.1534:0.7571:0.0:0.0895	.	173;204	E9JVC3;Q96JY0	.;MAEL_HUMAN	D	204;173;173	ENSP00000356846:H204D;ENSP00000356844:H173D;ENSP00000402143:H173D	ENSP00000356844:H173D	H	+	1	0	MAEL	165240127	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	1.931000	0.40134	1.365000	0.46057	0.591000	0.81541	CAT	MAEL	-	superfamily_CH-domain		0.353	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAEL	HGNC	protein_coding	OTTHUMT00000083239.1	C	NM_032858		166973503	+1	no_errors	ENST00000367872	ensembl	human	known	70_37	missense	SNP	0.996	G
MAP4K3	8491	genome.wustl.edu	37	2	39499440	39499440	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr2:39499440C>T	ENST00000263881.3	-	26	2281	c.1957G>A	c.(1957-1959)Gac>Aac	p.D653N	MAP4K3_ENST00000437545.1_Missense_Mutation_p.D569N|MAP4K3_ENST00000341681.5_Missense_Mutation_p.D632N|MAP4K3_ENST00000536018.1_Missense_Mutation_p.D206N	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	653	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				AGTATTCTGTCAGGGAGTTTG	0.363																																																	0													99.0	101.0	100.0					2																	39499440		2203	4300	6503	SO:0001583	missense	8491			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.1957G>A	2.37:g.39499440C>T	ENSP00000263881:p.Asp653Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	pfam_Citron,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,smart_Citron,pfscan_Prot_kinase_cat_dom	p.D653N	ENST00000263881.3	37	c.1957	CCDS1803.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.340783	0.95783	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	T;T;T;T	0.72394	-0.65;-0.49;-0.64;2.27	5.48	5.48	0.80851	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.82204	0.4986	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.79108	0.969;0.992	T	0.82504	-0.0424	10	0.62326	D	0.03	.	19.7249	0.96160	0.0:1.0:0.0:0.0	.	632;653	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	N	653;569;632;206	ENSP00000263881:D653N;ENSP00000416958:D569N;ENSP00000345434:D632N;ENSP00000440580:D206N	ENSP00000263881:D653N	D	-	1	0	MAP4K3	39352944	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.096000	0.76960	2.735000	0.93741	0.650000	0.86243	GAC	MAP4K3	-	pfam_Citron,smart_Citron		0.363	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP4K3	HGNC	protein_coding	OTTHUMT00000219966.2	C	NM_003618		39499440	-1	no_errors	ENST00000263881	ensembl	human	known	70_37	missense	SNP	1.000	T
MAPK1	5594	genome.wustl.edu	37	22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr22:22127164C>T	ENST00000215832.6	-	7	1152	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K|MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	GCTCTTACCTCGTCACTCGGG	0.478																																																	1	Substitution - Missense(1)	cervix(1)											165.0	132.0	143.0					22																	22127164		2203	4300	6503	SO:0001583	missense	5594			M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.964G>A	22.37:g.22127164C>T	ENSP00000215832:p.Glu322Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8CZ64	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,pfscan_Prot_kinase_cat_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4	p.E322K	ENST00000215832.6	37	c.964	CCDS13795.1	22	.	.	.	.	.	.	.	.	.	.	C	35	5.567659	0.96540	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.46063	0.88;0.88;0.88	4.9	4.9	0.64082	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79275	0.4418	H	0.98388	4.22	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.83275	0.905;0.996	D	0.87609	0.2502	10	0.87932	D	0	-8.3311	18.6384	0.91386	0.0:1.0:0.0:0.0	.	278;322	A8CZ64;P28482	.;MK01_HUMAN	K	322;310;322;278	ENSP00000215832:E322K;ENSP00000381803:E322K;ENSP00000440842:E278K	ENSP00000215832:E322K	E	-	1	0	MAPK1	20457164	1.000000	0.71417	0.999000	0.59377	0.862000	0.49288	7.564000	0.82326	2.706000	0.92434	0.655000	0.94253	GAG	MAPK1	-	superfamily_Kinase-like_dom,prints_MAPK_ERK1/2		0.478	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MAPK1	HGNC	protein_coding	OTTHUMT00000075396.2	C			22127164	-1	no_errors	ENST00000215832	ensembl	human	known	70_37	missense	SNP	1.000	T
MC1R	4157	genome.wustl.edu	37	16	89985855	89985855	+	Silent	SNP	C	C	T	rs373344683		TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr16:89985855C>T	ENST00000555147.1	+	1	1569	c.189C>T	c.(187-189)atC>atT	p.I63I	TUBB3_ENST00000554444.1_5'Flank|MC1R_ENST00000555427.1_Silent_p.I63I|RP11-566K11.4_ENST00000554623.1_RNA|RP11-566K11.7_ENST00000570217.1_RNA|TUBB3_ENST00000556922.1_Silent_p.I63I	NM_002386.3	NP_002377.4	Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	63					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		TGGCCACCATCGCCAAGAACC	0.642									Melanoma, Familial Clustering of																																								0								C		0,4352		0,0,2176	61.0	74.0	69.0		189	-6.5	0.0	16		69	2,8528		0,2,4263	no	coding-synonymous	MC1R	NM_002386.3		0,2,6439	TT,TC,CC		0.0234,0.0,0.0155		63/318	89985855	2,12880	2176	4265	6441	SO:0001819	synonymous_variant	4157	Familial Cancer Database			CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"""GPCR / Class A : Melanocortin receptors"""	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555147.1:c.189C>T	16.37:g.89985855C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MSH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt	p.I63	ENST00000555147.1	37	c.189	CCDS56011.1	16																																																																																			MC1R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.642	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	MC1R	HGNC	protein_coding	OTTHUMT00000412014.1	C	NM_002386		89985855	+1	no_errors	ENST00000555147	ensembl	human	known	70_37	silent	SNP	0.009	T
MGA	23269	genome.wustl.edu	37	15	41962122	41962122	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr15:41962122G>A	ENST00000570161.1	+	1	1030	c.1030G>A	c.(1030-1032)Gaa>Aaa	p.E344K	MGA_ENST00000389936.4_Missense_Mutation_p.E344K|MGA_ENST00000545763.1_Missense_Mutation_p.E344K|MGA_ENST00000568630.1_Intron|MGA_ENST00000219905.7_Missense_Mutation_p.E344K|MGA_ENST00000566586.1_Missense_Mutation_p.E344K			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGCACTTAGTGAAGTTCCTCA	0.383																																																	0													46.0	44.0	45.0					15																	41962122		1840	4091	5931	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.1030G>A	15.37:g.41962122G>A	ENSP00000457035:p.Glu344Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.E344K	ENST00000570161.1	37	c.1030	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817256	0.50633	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.84223	-1.82;-1.82;-1.81	5.62	5.62	0.85841	.	1.740780	0.02326	N	0.073454	D	0.90013	0.6882	L	0.56769	1.78	0.33653	D	0.608708	P;P	0.47604	0.898;0.836	P;B	0.47470	0.548;0.259	T	0.81951	-0.0698	10	0.72032	D	0.01	.	20.0185	0.97487	0.0:0.0:1.0:0.0	.	344;344	F5H7K2;E7ENI0	.;.	K	344	ENSP00000219905:E344K;ENSP00000374586:E344K;ENSP00000442467:E344K	ENSP00000219905:E344K	E	+	1	0	MGA	39749414	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.436000	0.66538	2.809000	0.96659	0.467000	0.42956	GAA	MGA	-	NULL		0.383	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	G	NM_001164273.1		41962122	+1	no_errors	ENST00000219905	ensembl	human	known	70_37	missense	SNP	0.997	A
MICALCL	84953	genome.wustl.edu	37	11	12316100	12316100	+	Silent	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr11:12316100C>T	ENST00000256186.2	+	3	1413	c.1122C>T	c.(1120-1122)ctC>ctT	p.L374L		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	374					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CCACACTCCTCGAGAAAGTGA	0.493																																																	0													115.0	122.0	120.0					11																	12316100		1933	4138	6071	SO:0001819	synonymous_variant	84953			BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1122C>T	11.37:g.12316100C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7RTP7|Q96JU6	Silent	SNP	pfam_DUF3585,smart_Fertility_inhib_FinO/ProQ	p.L374	ENST00000256186.2	37	c.1122	CCDS41620.1	11																																																																																			MICALCL	-	smart_Fertility_inhib_FinO/ProQ		0.493	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALCL	HGNC	protein_coding	OTTHUMT00000386164.1	C	NM_032867		12316100	+1	no_errors	ENST00000256186	ensembl	human	known	70_37	silent	SNP	0.158	T
MIR516A1	574498	genome.wustl.edu	37	19	54259998	54259998	+	RNA	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr19:54259998C>T	ENST00000385033.1	+	0	4				MIR527_ENST00000385244.1_RNA|MIR1283-2_ENST00000408621.1_RNA|AC011453.1_ENST00000583623.1_RNA	NR_030220.1				microRNA 516a-1																		AGCAAGATCTCAGGCTGTGAC	0.413																																																	0													167.0	155.0	159.0					19																	54259998		1568	3582	5150			574498					19q13.42	2011-09-12	2007-10-23	2008-12-18	ENSG00000207767	ENSG00000207767		"""ncRNAs / Micro RNAs"""	32130	non-coding RNA	RNA, micro			"""microRNA 516-1"""	MIRN516-1, MIRN516A1			Standard	NR_030220		Approved	hsa-mir-516-1, hsa-mir-516a-1	uc021vaw.1				19.37:g.54259998C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000385033.1	37	NULL		19																																																																																			MIR516A1	-	-		0.413	MIR516A1-201	KNOWN	basic	miRNA	MIR516A1	HGNC	miRNA		C	NR_030220		54259998	+1	no_errors	ENST00000385033	ensembl	human	known	70_37	rna	SNP	0.139	T
MX1	4599	genome.wustl.edu	37	21	42812922	42812922	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr21:42812922G>C	ENST00000398600.2	+	11	1725	c.700G>C	c.(700-702)Gag>Cag	p.E234Q	MX1_ENST00000398598.3_Missense_Mutation_p.E234Q|AP001610.5_ENST00000411427.1_RNA|MX1_ENST00000455164.2_Missense_Mutation_p.E234Q|MX1_ENST00000288383.6_Missense_Mutation_p.E211Q	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	234	Dynamin-type G.|GTPase domain (Globular).				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CATGGCCCAGGAGGTGGACCC	0.612																																																	0													76.0	74.0	74.0					21																	42812922		2203	4300	6503	SO:0001583	missense	4599				CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.700G>C	21.37:g.42812922G>C	ENSP00000381601:p.Glu234Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,smart_Dynamin_GTPase,smart_GED,prints_Dynamin	p.E234Q	ENST00000398600.2	37	c.700	CCDS13673.1	21	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946201	0.53079	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18	4.65	3.76	0.43208	Dynamin, GTPase domain (2);	0.157184	0.53938	D	0.000041	D	0.96144	0.8743	L	0.55834	1.745	0.54753	D	0.99998	P	0.46656	0.882	P	0.53102	0.718	D	0.95892	0.8908	10	0.66056	D	0.02	-43.3841	12.6406	0.56707	0.0837:0.0:0.9162:0.0	.	234	P20591	MX1_HUMAN	Q	234;234;234;211	ENSP00000381601:E234Q;ENSP00000381599:E234Q;ENSP00000410523:E234Q;ENSP00000288383:E211Q	ENSP00000288383:E211Q	E	+	1	0	MX1	41734792	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.645000	0.46621	1.252000	0.44001	0.650000	0.86243	GAG	MX1	-	pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin		0.612	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MX1	HGNC	protein_coding	OTTHUMT00000195161.2	G			42812922	+1	no_errors	ENST00000398598	ensembl	human	known	70_37	missense	SNP	1.000	C
MYCBP	26292	genome.wustl.edu	37	1	39333265	39333265	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr1:39333265C>T	ENST00000397572.2	-	3	905	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000454994.2_3'UTR	NM_012333.4	NP_036465.2	Q99417	MYCBP_HUMAN	MYC binding protein	36					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(1)|skin(1)	3	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)				TCTGGTTCTTCATATAAGGCT	0.308																																					Esophageal Squamous(155;912 1855 21572 25911 44247)												0													51.0	51.0	51.0					1																	39333265		2203	4300	6503	SO:0001583	missense	26292			AB007191	CCDS431.1	1p33-p32.2	2013-07-09	2013-07-09		ENSG00000214114	ENSG00000214114			7554	protein-coding gene	gene with protein product	"""associate of myc-1"""	606535	"""c-myc binding protein"""			9797456	Standard	NM_012333		Approved	AMY-1	uc001ccs.3	Q99417	OTTHUMG00000000484	ENST00000397572.2:c.106G>A	1.37:g.39333265C>T	ENSP00000380702:p.Glu36Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4N0|Q5TA64|Q96HE2	Missense_Mutation	SNP	NULL	p.E36K	ENST00000397572.2	37	c.106	CCDS431.1	1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831284	0.71258	.	.	ENSG00000214114	ENST00000397572	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	U	0.000000	T	0.74160	0.3680	M	0.87038	2.855	0.80722	D	1	B	0.27416	0.178	B	0.31547	0.132	T	0.75425	-0.3322	9	0.48119	T	0.1	-5.4384	18.0757	0.89426	0.0:1.0:0.0:0.0	.	36	Q99417	MYCBP_HUMAN	K	36	.	ENSP00000380702:E36K	E	-	1	0	MYCBP	39105852	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.215000	0.72206	2.339000	0.79563	0.655000	0.94253	GAA	MYCBP	-	NULL		0.308	MYCBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYCBP	HGNC	protein_coding	OTTHUMT00000001209.1	C	NM_012333		39333265	-1	no_errors	ENST00000397572	ensembl	human	known	70_37	missense	SNP	1.000	T
MYH7	4625	genome.wustl.edu	37	14	23900167	23900167	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr14:23900167C>T	ENST00000355349.3	-	10	1000	c.838G>A	c.(838-840)Gag>Aag	p.E280K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	280	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TAATCTCTCTCTGCTTTCAGC	0.448																																																	0													105.0	114.0	111.0					14																	23900167		2203	4300	6503	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.838G>A	14.37:g.23900167C>T	ENSP00000347507:p.Glu280Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E280K	ENST00000355349.3	37	c.838	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351490	0.61183	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.97959	-4.63	3.62	3.62	0.41486	Myosin head, motor domain (2);	.	.	.	.	D	0.98947	0.9642	H	0.99859	4.855	0.80722	D	1	B	0.12630	0.006	B	0.35655	0.207	D	0.99941	1.1409	9	0.87932	D	0	.	15.4652	0.75394	0.0:1.0:0.0:0.0	.	280	P12883	MYH7_HUMAN	K	280	ENSP00000347507:E280K	ENSP00000347507:E280K	E	-	1	0	MYH7	22970007	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	5.725000	0.68507	1.862000	0.54008	0.305000	0.20034	GAG	MYH7	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.448	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	C	NM_000257		23900167	-1	no_errors	ENST00000355349	ensembl	human	known	70_37	missense	SNP	1.000	T
MYO15A	51168	genome.wustl.edu	37	17	18045516	18045516	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr17:18045516C>G	ENST00000205890.5	+	24	6111	c.5773C>G	c.(5773-5775)Ctg>Gtg	p.L1925V		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1925	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Neck or regulatory domain.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ATTCCGCTCTCTGCGCCACAA	0.592																																																	0													40.0	43.0	42.0					17																	18045516		2172	4280	6452	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.5773C>G	17.37:g.18045516C>G	ENSP00000205890:p.Leu1925Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.L1925V	ENST00000205890.5	37	c.5773	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816303	0.50527	.	.	ENSG00000091536	ENST00000205890	D	0.95724	-3.79	5.69	0.203	0.15195	.	.	.	.	.	D	0.92828	0.7719	L	0.29908	0.895	0.80722	D	1	D	0.62365	0.991	P	0.52343	0.696	D	0.89107	0.3493	9	0.45353	T	0.12	.	10.0413	0.42160	0.0:0.6652:0.0:0.3348	.	1925	Q9UKN7	MYO15_HUMAN	V	1925	ENSP00000205890:L1925V	ENSP00000205890:L1925V	L	+	1	2	MYO15A	17986241	0.073000	0.21202	0.344000	0.25628	0.898000	0.52572	0.475000	0.22164	0.069000	0.16605	0.655000	0.94253	CTG	MYO15A	-	smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.592	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	C	NM_016239		18045516	+1	no_errors	ENST00000205890	ensembl	human	known	70_37	missense	SNP	0.995	G
NANOG	79923	genome.wustl.edu	37	12	7945646	7945646	+	Silent	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr12:7945646C>T	ENST00000229307.4	+	2	471	c.252C>T	c.(250-252)gtC>gtT	p.V84V	NANOG_ENST00000526286.1_Silent_p.V84V	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	84					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|embryo development (GO:0009790)|embryonic pattern specification (GO:0009880)|endodermal cell fate specification (GO:0001714)|gonad development (GO:0008406)|mesodermal cell fate commitment (GO:0001710)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to retinoic acid (GO:0032526)|somatic stem cell maintenance (GO:0035019)|stem cell division (GO:0017145)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		AGAAGAGTGTCGCAAAAAAGG	0.478																																																	0													70.0	63.0	65.0					12																	7945646		2202	4295	6497	SO:0001819	synonymous_variant	79923			AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704		"""Homeoboxes / ANTP class : NKL subclass"""	20857	protein-coding gene	gene with protein product		607937				12787505, 12787504	Standard	XM_005253484		Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		ENST00000229307.4:c.252C>T	12.37:g.7945646C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUU4|Q2TTG0|Q6JZS5	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.V84	ENST00000229307.4	37	c.252	CCDS31736.1	12																																																																																			NANOG	-	NULL		0.478	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NANOG	HGNC	protein_coding	OTTHUMT00000387480.2	C	NM_024865		7945646	+1	no_errors	ENST00000229307	ensembl	human	known	70_37	silent	SNP	0.000	T
NAT9	26151	genome.wustl.edu	37	17	72767864	72767864	+	Silent	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr17:72767864C>T	ENST00000357814.3	-	7	696	c.623G>A	c.(622-624)tGa>tAa	p.*208*	NAT9_ENST00000580301.1_Silent_p.*207*|NAT9_ENST00000580632.1_Silent_p.*208*|NAT9_ENST00000578822.1_Silent_p.*213*|NAT9_ENST00000582870.1_Silent_p.*212*|NAT9_ENST00000581136.1_Silent_p.*203*|NAT9_ENST00000580216.1_5'Flank	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	0						protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						GCCCAGCCATCAGCAGGGCTC	0.602																																																	0													40.0	38.0	39.0					17																	72767864		2203	4300	6503	SO:0001819	synonymous_variant	26151			AK123115	CCDS11706.1	17q25.2	2011-11-25	2008-09-24		ENSG00000109065	ENSG00000109065			23133	protein-coding gene	gene with protein product			"""N-acetyltransferase 9"""			14608357	Standard	NM_015654		Approved	DKFZP564C103	uc002jlq.3	Q9BTE0		ENST00000357814.3:c.623G>A	17.37:g.72767864C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7F0|Q9BTD0|Q9Y3T3	Silent	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase	p.*208	ENST00000357814.3	37	c.623	CCDS11706.1	17																																																																																			NAT9	-	NULL		0.602	NAT9-001	KNOWN	basic|CCDS	protein_coding	NAT9	HGNC	protein_coding	OTTHUMT00000443700.1	C	NM_015654		72767864	-1	no_errors	ENST00000357814	ensembl	human	known	70_37	silent	SNP	0.826	T
NDUFA6	4700	genome.wustl.edu	37	22	42483075	42483075	+	Silent	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr22:42483075G>A	ENST00000498737.2	-	2	454	c.322C>T	c.(322-324)Ctg>Ttg	p.L108L	RP1-257I20.14_ENST00000602718.1_RNA|NDUFA6_ENST00000470753.1_Silent_p.L25L|NDUFA6_ENST00000602404.1_Silent_p.L82L	NM_002490.3	NP_002481.2	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa	108					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						TTAATGACCAGAAGATCAACC	0.433																																																	0													171.0	168.0	169.0					22																	42483075		2203	4300	6503	SO:0001819	synonymous_variant	4700			AF047182	CCDS33656.1	22q13.2	2010-05-07	2002-08-29		ENSG00000184983	ENSG00000184983		"""LYR motif containing"", ""Mitochondrial respiratory chain complex / Complex I"""	7690	protein-coding gene	gene with protein product	"""complex I B14 subunit"""	602138	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6 (14kD, B14)"""			9763676, 9425316	Standard	NM_002490		Approved	B14, LYRM6, CI-B14, NADHB14	uc003bcb.3	P56556	OTTHUMG00000151287	ENST00000498737.2:c.322C>T	22.37:g.42483075G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RE54|O43675|Q6FGW0|Q6IBT8|Q6IC39	Silent	SNP	pfam_Complex1_LYR	p.L108	ENST00000498737.2	37	c.322	CCDS33656.1	22																																																																																			NDUFA6	-	pfam_Complex1_LYR		0.433	NDUFA6-001	KNOWN	basic|CCDS	protein_coding	NDUFA6	HGNC	protein_coding	OTTHUMT00000322089.4	G	NM_002490		42483075	-1	no_errors	ENST00000498737	ensembl	human	known	70_37	silent	SNP	1.000	A
NEB	4703	genome.wustl.edu	37	2	152472532	152472532	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr2:152472532C>G	ENST00000172853.10	-	72	10691	c.10544G>C	c.(10543-10545)aGa>aCa	p.R3515T	NEB_ENST00000603639.1_Missense_Mutation_p.R3758T|NEB_ENST00000427231.2_Missense_Mutation_p.R3758T|NEB_ENST00000604864.1_Missense_Mutation_p.R3758T|NEB_ENST00000397345.3_Missense_Mutation_p.R3758T|NEB_ENST00000409198.1_Missense_Mutation_p.R3515T			P20929	NEBU_HUMAN	nebulin	3515					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGCAATATCTCTTGAAGCCTT	0.373																																																	0													69.0	69.0	69.0					2																	152472532		1844	4094	5938	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10544G>C	2.37:g.152472532C>G	ENSP00000172853:p.Arg3515Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.R3758T	ENST00000172853.10	37	c.11273		2	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846519	0.71603	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.62853	0.2462	M	0.64567	1.98	0.80722	D	1	D	0.67145	0.996	D	0.79108	0.992	T	0.62015	-0.6943	10	0.48119	T	0.1	.	17.9894	0.89164	0.0:1.0:0.0:0.0	.	3515	P20929	NEBU_HUMAN	T	3515;3758;3758;3515	ENSP00000386259:R3515T;ENSP00000380505:R3758T;ENSP00000416578:R3758T;ENSP00000172853:R3515T	ENSP00000172853:R3515T	R	-	2	0	NEB	152180778	0.258000	0.24033	0.979000	0.43373	0.813000	0.45954	2.454000	0.44979	2.602000	0.87976	0.650000	0.86243	AGA	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.373	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		C	NM_004543		152472532	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	G
NEB	4703	genome.wustl.edu	37	2	152518812	152518812	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr2:152518812C>T	ENST00000172853.10	-	46	5954	c.5807G>A	c.(5806-5808)gGa>gAa	p.G1936E	NEB_ENST00000603639.1_Missense_Mutation_p.G1936E|NEB_ENST00000427231.2_Missense_Mutation_p.G1936E|NEB_ENST00000604864.1_Missense_Mutation_p.G1936E|NEB_ENST00000397345.3_Missense_Mutation_p.G1936E|NEB_ENST00000409198.1_Missense_Mutation_p.G1936E			P20929	NEBU_HUMAN	nebulin	1936					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGGGAGCCATCCAATGCCCTT	0.428																																																	0													109.0	104.0	105.0					2																	152518812		1862	4102	5964	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.5807G>A	2.37:g.152518812C>T	ENSP00000172853:p.Gly1936Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.G1936E	ENST00000172853.10	37	c.5807		2	.	.	.	.	.	.	.	.	.	.	C	33	5.243787	0.95272	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.08008	3.14;3.16;3.16;3.14	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.37865	0.1019	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.20874	-1.0262	10	0.87932	D	0	.	20.312	0.98644	0.0:1.0:0.0:0.0	.	1936	P20929	NEBU_HUMAN	E	1936	ENSP00000386259:G1936E;ENSP00000380505:G1936E;ENSP00000416578:G1936E;ENSP00000172853:G1936E	ENSP00000172853:G1936E	G	-	2	0	NEB	152227058	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.762000	0.85270	2.866000	0.98385	0.650000	0.86243	GGA	NEB	-	smart_Nebulin_35r-motif		0.428	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		C	NM_004543		152518812	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	T
NLGN4X	57502	genome.wustl.edu	37	X	5811015	5811015	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chrX:5811015C>T	ENST00000381095.3	-	6	2921	c.2294G>A	c.(2293-2295)cGc>cAc	p.R765H	NLGN4X_ENST00000381093.2_Missense_Mutation_p.R785H|NLGN4X_ENST00000538097.1_Missense_Mutation_p.R765H|NLGN4X_ENST00000381092.1_Missense_Mutation_p.R765H|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R765H	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	765					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGGCGACCGGCGCAGCGTGAG	0.562																																																	0													242.0	196.0	211.0					X																	5811015		2203	4300	6503	SO:0001583	missense	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.2294G>A	X.37:g.5811015C>T	ENSP00000370485:p.Arg765His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UX10|Q9ULG0	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.R785H	ENST00000381095.3	37	c.2354	CCDS14126.1	X	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360647	0.61403	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11	3.82	3.82	0.43975	.	0.000000	0.35291	N	0.003307	T	0.46814	0.1412	M	0.79123	2.44	0.52501	D	0.999954	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.985;0.985;0.993	T	0.54364	-0.8305	10	0.87932	D	0	.	14.222	0.65833	0.0:1.0:0.0:0.0	.	822;765;785	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	H	765;785;765;765;765	ENSP00000370485:R765H;ENSP00000370483:R785H;ENSP00000275857:R765H;ENSP00000370482:R765H;ENSP00000439203:R765H	ENSP00000275857:R765H	R	-	2	0	NLGN4X	5821015	1.000000	0.71417	0.069000	0.20011	0.548000	0.35241	6.717000	0.74707	1.508000	0.48769	0.513000	0.50165	CGC	NLGN4X	-	NULL		0.562	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	C	NM_020742		5811015	-1	no_errors	ENST00000381093	ensembl	human	known	70_37	missense	SNP	1.000	T
NTNG1	22854	genome.wustl.edu	37	1	107867489	107867489	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr1:107867489G>A	ENST00000370068.1	+	3	1678	c.832G>A	c.(832-834)Gag>Aag	p.E278K	NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370073.2_Missense_Mutation_p.E278K|NTNG1_ENST00000370067.1_Missense_Mutation_p.E278K|NTNG1_ENST00000370066.1_Missense_Mutation_p.E278K|NTNG1_ENST00000542803.1_Missense_Mutation_p.E278K|NTNG1_ENST00000370061.3_Missense_Mutation_p.E278K|NTNG1_ENST00000370070.2_Missense_Mutation_p.E278K|NTNG1_ENST00000370071.2_Missense_Mutation_p.E278K|NTNG1_ENST00000370074.4_Missense_Mutation_p.E278K|NTNG1_ENST00000370072.3_Missense_Mutation_p.E278K|NTNG1_ENST00000370065.1_Missense_Mutation_p.E278K			Q9Y2I2	NTNG1_HUMAN	netrin G1	278	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ATTTGTAGATGAGCTACACTT	0.463																																																	0													60.0	62.0	61.0					1																	107867489		2203	4298	6501	SO:0001583	missense	22854			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.832G>A	1.37:g.107867489G>A	ENSP00000359085:p.Glu278Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.E278K	ENST00000370068.1	37	c.832	CCDS44180.1	1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537507	0.65085	.	.	ENSG00000162631	ENST00000370076;ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370064;ENST00000370062;ENST00000370074;ENST00000370068;ENST00000294649;ENST00000370067;ENST00000370066;ENST00000370065	T;T;T;T;T;T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	6.05	6.05	0.98169	Laminin, N-terminal (3);	0.000000	0.64402	D	0.000008	T	0.65281	0.2676	N	0.25245	0.725	0.58432	D	0.999999	P;D;P;P;B	0.54964	0.945;0.969;0.863;0.637;0.041	P;P;B;B;B	0.52554	0.702;0.702;0.444;0.239;0.036	T	0.66850	-0.5819	10	0.42905	T	0.14	.	16.8106	0.85717	0.0:0.1284:0.8716:0.0	.	278;278;278;278;278	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-2;Q9Y2I2-1	.;NTNG1_HUMAN;.;.;.	K	278;278;278;278;278;278;278;278;39;39;278;278;278;278;278;278	ENSP00000359090:E278K;ENSP00000359088:E278K;ENSP00000440561:E278K;ENSP00000359078:E278K;ENSP00000359089:E278K;ENSP00000359087:E278K;ENSP00000359091:E278K;ENSP00000359085:E278K;ENSP00000359084:E278K;ENSP00000359083:E278K;ENSP00000359082:E278K	ENSP00000294649:E278K	E	+	1	0	NTNG1	107669012	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.741000	0.74837	2.880000	0.98712	0.655000	0.94253	GAG	NTNG1	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.463	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTNG1	HGNC	protein_coding	OTTHUMT00000030340.1	G	NM_014917		107867489	+1	no_errors	ENST00000370068	ensembl	human	known	70_37	missense	SNP	1.000	A
OR3A1	4994	genome.wustl.edu	37	17	3195210	3195210	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr17:3195210G>A	ENST00000323404.1	-	1	666	c.667C>T	c.(667-669)Cac>Tac	p.H223Y	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	223					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GCTGCCACGTGGATATAGGAG	0.527																																					GBM(20;287 516 18743 28660 36594)												0													62.0	58.0	60.0					17																	3195210		2203	4300	6503	SO:0001583	missense	4994			X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.667C>T	17.37:g.3195210G>A	ENSP00000313803:p.His223Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VB06|Q6IFM4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H223Y	ENST00000323404.1	37	c.667	CCDS11023.1	17	.	.	.	.	.	.	.	.	.	.	G	0.389	-0.924475	0.02377	.	.	ENSG00000180090	ENST00000323404	T	0.00063	8.78	5.01	-0.861	0.10676	GPCR, rhodopsin-like superfamily (1);	0.251939	0.28241	N	0.016066	T	0.00073	0.0002	N	0.13168	0.305	0.09310	N	1	B	0.14805	0.011	B	0.21151	0.033	T	0.42599	-0.9442	10	0.02654	T	1	-5.2028	3.8296	0.08868	0.297:0.0:0.4397:0.2633	.	223	P47881	OR3A1_HUMAN	Y	223	ENSP00000313803:H223Y	ENSP00000313803:H223Y	H	-	1	0	OR3A1	3141960	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.227000	0.17795	-0.146000	0.11274	-0.781000	0.03364	CAC	OR3A1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.527	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR3A1	HGNC	protein_coding	OTTHUMT00000207302.2	G			3195210	-1	no_errors	ENST00000323404	ensembl	human	known	70_37	missense	SNP	0.000	A
PAM	5066	genome.wustl.edu	37	5	102262314	102262314	+	Silent	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr5:102262314G>A	ENST00000438793.3	+	6	938	c.468G>A	c.(466-468)gaG>gaA	p.E156E	PAM_ENST00000346918.2_Silent_p.E156E|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000274392.9_Silent_p.E59E|PAM_ENST00000304400.7_Silent_p.E156E|PAM_ENST00000348126.2_Silent_p.E156E|PAM_ENST00000455264.2_Silent_p.E156E	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	156	Peptidylglycine alpha-hydroxylating monooxygenase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TTGGAGGAGAGACTGGAAGTA	0.328																																																	0													154.0	160.0	158.0					5																	102262314		2203	4300	6503	SO:0001819	synonymous_variant	5066			AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.468G>A	5.37:g.102262314G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	NULL	p.R137K	ENST00000438793.3	37	c.410	CCDS54885.1	5																																																																																			PAM	-	NULL		0.328	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PAM	HGNC	protein_coding	OTTHUMT00000250640.2	G	NM_000919		102262314	+1	no_errors	ENST00000345721	ensembl	human	known	70_37	missense	SNP	0.996	A
PCDHB6	56130	genome.wustl.edu	37	5	140532130	140532130	+	Silent	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr5:140532130C>T	ENST00000231136.1	+	1	2292	c.2292C>T	c.(2290-2292)ttC>ttT	p.F764F	PCDHB6_ENST00000543635.1_Silent_p.F628F	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	764					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)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTTCAAGTTCCTGAAGCCGA	0.542																																																	0													131.0	140.0	137.0					5																	140532130		2202	4300	6502	SO:0001819	synonymous_variant	56130			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.2292C>T	5.37:g.140532130C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8R9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F764	ENST00000231136.1	37	c.2292	CCDS4248.1	5																																																																																			PCDHB6	-	NULL		0.542	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	C	NM_018939		140532130	+1	no_errors	ENST00000231136	ensembl	human	known	70_37	silent	SNP	0.934	T
PI4KA	5297	genome.wustl.edu	37	22	21119489	21119489	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr22:21119489C>G	ENST00000572273.1	-	21	2529	c.2299G>C	c.(2299-2301)Gaa>Caa	p.E767Q	PI4KA_ENST00000466162.1_5'UTR|PI4KA_ENST00000255882.6_Missense_Mutation_p.E825Q			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	767					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GTGGCTATTTCACAGACCCCC	0.517																																					GBM(136;1332 1831 3115 23601 50806)												0													118.0	122.0	121.0					22																	21119489		2203	4300	6503	SO:0001583	missense	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2299G>C	22.37:g.21119489C>G	ENSP00000458238:p.Glu767Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z625|Q9UPG2	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E825Q	ENST00000572273.1	37	c.2473		22	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584642	0.86748	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.52092	0.1713	L	0.40543	1.245	0.80722	D	1	P	0.34462	0.454	B	0.36885	0.235	T	0.43637	-0.9379	9	0.18276	T	0.48	-26.3198	19.2017	0.93713	0.0:1.0:0.0:0.0	.	767	P42356	PI4KA_HUMAN	Q	767	.	ENSP00000255882:E767Q	E	-	1	0	PI4KA	19449489	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.539000	0.82063	2.770000	0.95276	0.650000	0.86243	GAA	PI4KA	-	superfamily_ARM-type_fold		0.517	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		C	NM_058004		21119489	-1	no_errors	ENST00000255882	ensembl	human	known	70_37	missense	SNP	1.000	G
PIWIL4	143689	genome.wustl.edu	37	11	94326762	94326762	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr11:94326762G>A	ENST00000299001.6	+	9	1316	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	369	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGACAACAGTGAGGCTCAGCT	0.428																																																	0													147.0	146.0	146.0					11																	94326762		2201	4298	6499	SO:0001583	missense	143689			AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.1105G>A	11.37:g.94326762G>A	ENSP00000299001:p.Glu369Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.E369K	ENST00000299001.6	37	c.1105	CCDS31656.1	11	.	.	.	.	.	.	.	.	.	.	G	2.965	-0.213778	0.06140	.	.	ENSG00000134627	ENST00000299001	T	0.03889	3.77	4.77	4.77	0.60923	Argonaute/Dicer protein, PAZ (4);	0.091946	0.45361	D	0.000366	T	0.05914	0.0154	L	0.41710	1.295	0.80722	D	1	B	0.10296	0.003	B	0.13407	0.009	T	0.38286	-0.9668	10	0.25106	T	0.35	-19.2946	15.656	0.77136	0.0:0.0:1.0:0.0	.	369	Q7Z3Z4	PIWL4_HUMAN	K	369	ENSP00000299001:E369K	ENSP00000299001:E369K	E	+	1	0	PIWIL4	93966410	0.998000	0.40836	0.015000	0.15790	0.011000	0.07611	4.936000	0.63506	2.356000	0.79943	0.462000	0.41574	GAG	PIWIL4	-	pfam_PAZ,superfamily_PAZ,smart_PAZ,pfscan_PAZ		0.428	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL4	HGNC	protein_coding	OTTHUMT00000396388.1	G	NM_152431		94326762	+1	no_errors	ENST00000299001	ensembl	human	known	70_37	missense	SNP	0.441	A
PJA1	64219	genome.wustl.edu	37	X	68383010	68383010	+	Silent	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chrX:68383010C>T	ENST00000361478.1	-	2	449	c.72G>A	c.(70-72)agG>agA	p.R24R	PJA1_ENST00000477231.1_Intron|PJA1_ENST00000374571.4_Intron|PJA1_ENST00000374583.1_Silent_p.R24R|PJA1_ENST00000374584.3_Silent_p.R24R	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	24					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TTCTTCCATACCTCCTACCTG	0.512																																																	0													167.0	145.0	152.0					X																	68383010		2203	4300	6503	SO:0001819	synonymous_variant	64219			AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.72G>A	X.37:g.68383010C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R24	ENST00000361478.1	37	c.72	CCDS14393.1	X																																																																																			PJA1	-	NULL		0.512	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PJA1	HGNC	protein_coding	OTTHUMT00000057031.2	C	NM_145119		68383010	-1	no_errors	ENST00000361478	ensembl	human	known	70_37	silent	SNP	0.998	T
PLCE1	51196	genome.wustl.edu	37	10	95848926	95848926	+	Intron	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr10:95848926C>T	ENST00000371380.3	+	2	1441				PLCE1_ENST00000260766.3_Intron|RP11-429H9.4_ENST00000438899.1_RNA|PLCE1_ENST00000371385.3_Silent_p.F25F|PLCE1_ENST00000371375.1_Silent_p.F25F			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACGTGAGATTCTGCAAAGGGA	0.522																																																	0													115.0	108.0	110.0					10																	95848926		1568	3582	5150	SO:0001627	intron_variant	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1207-43005C>T	10.37:g.95848926C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.F25	ENST00000371380.3	37	c.75	CCDS41552.1	10																																																																																			PLCE1	-	NULL		0.522	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	C	NM_016341		95848926	+1	no_errors	ENST00000371375	ensembl	human	known	70_37	silent	SNP	1.000	T
PPEF1	5475	genome.wustl.edu	37	X	18748335	18748335	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chrX:18748335G>A	ENST00000361511.4	+	5	577	c.83G>A	c.(82-84)cGa>cAa	p.R28Q	PPEF1_ENST00000544635.1_Intron|PPEF1_ENST00000543630.1_Missense_Mutation_p.R28Q|PPEF1_ENST00000349874.5_Missense_Mutation_p.R28Q|PPEF1_ENST00000471570.1_3'UTR|PPEF1_ENST00000359763.6_Missense_Mutation_p.R28Q	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	28	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AACTGGTACCGAGGTTACAAA	0.458																																																	0													214.0	151.0	172.0					X																	18748335		2203	4300	6503	SO:0001583	missense	5475			BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.83G>A	X.37:g.18748335G>A	ENSP00000354871:p.Arg28Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,pfam_EF-hand,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_HAND_2,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase	p.R28Q	ENST00000361511.4	37	c.83	CCDS14188.1	X	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870623	0.91587	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000543630	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.85	4.99	0.66335	.	0.254138	0.28284	N	0.015919	D	0.88198	0.6372	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.997	D	0.89327	0.3644	10	0.87932	D	0	-11.7722	12.9705	0.58510	0.0808:0.0:0.9192:0.0	.	28;28;28	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	Q	28	ENSP00000354871:R28Q;ENSP00000352806:R28Q;ENSP00000341892:R28Q;ENSP00000437785:R28Q	ENSP00000341892:R28Q	R	+	2	0	PPEF1	18658256	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	8.533000	0.90617	1.230000	0.43646	0.594000	0.82650	CGA	PPEF1	-	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_IQ_motif_EF-hand-BS		0.458	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPEF1	HGNC	protein_coding	OTTHUMT00000055953.3	G	NM_006240		18748335	+1	no_errors	ENST00000361511	ensembl	human	known	70_37	missense	SNP	1.000	A
PRRG1	5638	genome.wustl.edu	37	X	37312800	37312800	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chrX:37312800G>A	ENST00000542554.1	+	5	855	c.583G>A	c.(583-585)Gag>Aag	p.E195K	PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000378628.4_Missense_Mutation_p.E195K|PRRG1_ENST00000449135.2_Missense_Mutation_p.E195K|PRRG1_ENST00000543642.1_Missense_Mutation_p.E195K|TM4SF2_ENST00000465127.1_Intron	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	195						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						CCCACCCCCAGAGTATGAGGA	0.498																																																	0													85.0	67.0	73.0					X																	37312800		2202	4300	6502	SO:0001583	missense	5638			AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.583G>A	X.37:g.37312800G>A	ENSP00000444278:p.Glu195Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7A3|C9JXL7|D3DWA9|Q5JT66	Missense_Mutation	SNP	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain	p.E195K	ENST00000542554.1	37	c.583	CCDS14239.1	X	.	.	.	.	.	.	.	.	.	.	G	4.407	0.075272	0.08485	.	.	ENSG00000130962	ENST00000378628;ENST00000542554;ENST00000543642;ENST00000449135	D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91	5.96	5.09	0.68999	.	0.160103	0.56097	D	0.000029	D	0.92087	0.7492	N	0.04508	-0.205	0.35832	D	0.825358	B	0.20052	0.041	B	0.18263	0.021	D	0.89123	0.3504	10	0.02654	T	1	-7.826	13.4268	0.61030	0.0:0.2297:0.7703:0.0	.	195	O14668	TMG1_HUMAN	K	195	ENSP00000367894:E195K;ENSP00000444278:E195K;ENSP00000443271:E195K;ENSP00000390332:E195K	ENSP00000367894:E195K	E	+	1	0	PRRG1	37197721	0.981000	0.34729	0.939000	0.37840	0.992000	0.81027	2.131000	0.42074	2.524000	0.85096	0.600000	0.82982	GAG	PRRG1	-	NULL		0.498	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG1	HGNC	protein_coding	OTTHUMT00000056228.2	G	NM_000950		37312800	+1	no_errors	ENST00000378628	ensembl	human	known	70_37	missense	SNP	0.892	A
PRICKLE3	4007	genome.wustl.edu	37	X	49032207	49032207	+	Missense_Mutation	SNP	C	C	T	rs144390456	byFrequency	TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chrX:49032207C>T	ENST00000376317.3	-	9	1757	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K	PRICKLE3_ENST00000540849.1_Missense_Mutation_p.E487K|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.E474K|PRICKLE3_ENST00000538114.1_Missense_Mutation_p.E379K	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	555	Poly-Ser.						zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						TCTGATGATTCGGAACTGGAA	0.577																																																	0									LYS/GLU	0,3835		0,0,0,1632,571	155.0	123.0	134.0		1663	3.2	0.6	X	dbSNP_134	134	1,6727		0,0,1,2428,1871	no	missense	PRICKLE3	NM_006150.3	56	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	possibly-damaging	555/616	49032207	1,10562	2203	4300	6503	SO:0001583	missense	4007			BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"""LIM domain only 6"""	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.1663G>A	X.37:g.49032207C>T	ENSP00000365494:p.Glu555Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z8F2|O76007|Q53XR5	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E555K	ENST00000376317.3	37	c.1663	CCDS14320.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	14.91|14.91	2.676970|2.676970	0.47886|0.47886	0.0|0.0	1.49E-4|1.49E-4	ENSG00000012211|ENSG00000012211	ENST00000376317;ENST00000536904;ENST00000540849;ENST00000538114|ENST00000453382	T;T;T;T|.	0.71579|.	-0.48;-0.5;-0.49;-0.58|.	3.22|3.22	3.22|3.22	0.36961|0.36961	.|.	0.000000|.	0.39020|.	N|.	0.001490|.	T|T	0.36276|0.36276	0.0961|0.0961	N|N	0.24115|0.24115	0.695|0.695	0.33080|0.33080	D|D	0.536481|0.536481	D;D;D|.	0.71674|.	0.998;0.998;0.995|.	P;P;P|.	0.52793|.	0.709;0.709;0.522|.	T|T	0.45396|0.45396	-0.9264|-0.9264	10|5	0.72032|.	D|.	0.01|.	-23.0887|-23.0887	9.1165|9.1165	0.36762|0.36762	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	517;474;555|.	B7Z6S4;B7Z8F2;O43900|.	.;.;PRIC3_HUMAN|.	K|Q	555;474;487;379|567	ENSP00000365494:E555K;ENSP00000441385:E474K;ENSP00000446051:E487K;ENSP00000441743:E379K|.	ENSP00000365494:E555K|.	E|R	-|-	1|2	0|0	PRICKLE3|PRICKLE3	48919151|48919151	0.994000|0.994000	0.37717|0.37717	0.631000|0.631000	0.29282|0.29282	0.431000|0.431000	0.31685|0.31685	3.601000|3.601000	0.54059|0.54059	1.888000|1.888000	0.54679|0.54679	0.455000|0.455000	0.32223|0.32223	GAA|CGA	PRICKLE3	-	NULL		0.577	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRICKLE3	HGNC	protein_coding	OTTHUMT00000060811.1	C	NM_006150		49032207	-1	no_errors	ENST00000376317	ensembl	human	known	70_37	missense	SNP	0.869	T
PUM2	23369	genome.wustl.edu	37	2	20478361	20478361	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr2:20478361G>A	ENST00000361078.2	-	12	1962	c.1940C>T	c.(1939-1941)tCa>tTa	p.S647L	PUM2_ENST00000536417.1_Missense_Mutation_p.S591L|PUM2_ENST00000319801.5_Intron|PUM2_ENST00000338086.5_Missense_Mutation_p.S647L|PUM2_ENST00000403432.1_Missense_Mutation_p.S647L			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	647	Ser-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAACTGGATGAGGATCCATG	0.383																																																	0													116.0	114.0	114.0					2																	20478361		2203	4299	6502	SO:0001583	missense	23369			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1940C>T	2.37:g.20478361G>A	ENSP00000354370:p.Ser647Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.S647L	ENST00000361078.2	37	c.1940		2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321541	0.81580	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000403432;ENST00000536417	T;T;T;T	0.20200	2.09;2.36;2.09;2.09	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.43897	0.1268	M	0.62723	1.935	0.80722	D	1	D;D;D	0.69078	0.996;0.997;0.981	P;D;D	0.69824	0.908;0.958;0.966	T	0.06499	-1.0823	10	0.19590	T	0.45	-11.338	19.72	0.96137	0.0:0.0:1.0:0.0	.	591;647;647	B4E2B6;Q8TB72-3;Q8TB72	.;.;PUM2_HUMAN	L	647;647;647;591	ENSP00000338173:S647L;ENSP00000354370:S647L;ENSP00000385992:S647L;ENSP00000440093:S591L	ENSP00000338173:S647L	S	-	2	0	PUM2	20341842	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.620000	0.98373	2.665000	0.90641	0.650000	0.86243	TCA	PUM2	-	NULL		0.383	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	PUM2	HGNC	protein_coding		G	NM_015317		20478361	-1	no_errors	ENST00000361078	ensembl	human	known	70_37	missense	SNP	1.000	A
RCHY1	25898	genome.wustl.edu	37	4	76439453	76439453	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr4:76439453C>T	ENST00000324439.5	-	1	442	c.44G>A	c.(43-45)cGa>cAa	p.R15Q	THAP6_ENST00000507885.1_5'Flank|RCHY1_ENST00000451788.1_Missense_Mutation_p.R15Q|THAP6_ENST00000504190.1_5'Flank|RCHY1_ENST00000514021.1_Intron|THAP6_ENST00000380837.3_5'Flank|RCHY1_ENST00000513257.1_Missense_Mutation_p.R15Q|THAP6_ENST00000508105.1_5'Flank|THAP6_ENST00000514480.1_5'Flank|THAP6_ENST00000502620.1_5'Flank|THAP6_ENST00000507556.1_5'Flank|RCHY1_ENST00000512706.1_Missense_Mutation_p.E8K|THAP6_ENST00000311638.3_5'Flank|RCHY1_ENST00000380840.2_Missense_Mutation_p.R15Q|THAP6_ENST00000507557.1_5'Flank	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	15					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CCGCTGACCTCGCTCTTGACC	0.617																																																	0													89.0	78.0	82.0					4																	76439453		2203	4300	6503	SO:0001583	missense	25898			AF255666	CCDS3567.1, CCDS34012.1, CCDS63990.1, CCDS63991.1, CCDS63992.1	4q21.1-q21.3	2014-02-17	2012-02-23	2004-03-30	ENSG00000163743	ENSG00000163743		"""RING-type (C3HC4) zinc fingers"""	17479	protein-coding gene	gene with protein product	"""androgen-receptor N-terminal-interacting protein"", ""p53-induced protein with a RING-H2 domain"", ""zinc finger, CHY-type"""	607680	"""zinc finger protein 363"", ""ring finger and CHY zinc finger domain containing 1"""	ZNF363		12654245	Standard	NM_015436		Approved	CHIMP, DKFZp586C1620, PRO1996, RNF199, ARNIP, PIRH2, ZCHY	uc003hik.3	Q96PM5	OTTHUMG00000130105	ENST00000324439.5:c.44G>A	4.37:g.76439453C>T	ENSP00000321239:p.Arg15Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRG3|C7E541|C7E542|C7E543|D3YRV2|E7EMC8|E7ETW5|J3KPI0|Q2KN33|Q59GN7|Q86X26|Q96PR5	Missense_Mutation	SNP	pfam_Znf_CHY,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R15Q	ENST00000324439.5	37	c.44	CCDS3567.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.194|0.194	-1.050502|-1.050502	0.01981|0.01981	.|.	.|.	ENSG00000163743|ENSG00000163743	ENST00000512706|ENST00000324439;ENST00000451788;ENST00000380840;ENST00000513257;ENST00000507014	T|T;T	0.28069|0.30182	1.63|1.56;1.54	4.28|4.28	-0.427|-0.427	0.12310|0.12310	.|Zinc finger, CHY-type (1);	.|0.762404	.|0.11702	.|N	.|0.537851	T|T	0.11410|0.11410	0.0278|0.0278	N|N	0.08118|0.08118	0|0	0.19300|0.19300	N|N	0.999972|0.999972	.|B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B	.|0.01281	.|0.0;0.0;0.0;0.0;0.0	T|T	0.33420|0.33420	-0.9869|-0.9869	7|10	0.21540|0.13108	T|T	0.41|0.6	-7.768|-7.768	3.5838|3.5838	0.07963|0.07963	0.0:0.3707:0.21:0.4192|0.0:0.3707:0.21:0.4192	.|.	.|15;15;15;15;15	.|E7EMC8;Q2KN33;Q96PM5-2;Q96PM5;G3FDP4	.|.;.;.;ZN363_HUMAN;.	K|Q	8|15	ENSP00000423976:E8K|ENSP00000321239:R15Q;ENSP00000370220:R15Q	ENSP00000423976:E8K|ENSP00000321239:R15Q	E|R	-|-	1|2	0|0	RCHY1|RCHY1	76658477|76658477	0.000000|0.000000	0.05858|0.05858	0.021000|0.021000	0.16686|0.16686	0.366000|0.366000	0.29705|0.29705	-0.406000|-0.406000	0.07187|0.07187	-0.007000|-0.007000	0.14345|0.14345	0.555000|0.555000	0.69702|0.69702	GAG|CGA	RCHY1	-	NULL		0.617	RCHY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCHY1	HGNC	protein_coding	OTTHUMT00000252411.2	C	NM_015436		76439453	-1	no_errors	ENST00000324439	ensembl	human	known	70_37	missense	SNP	0.005	T
RECQL5	9400	genome.wustl.edu	37	17	73624482	73624482	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr17:73624482G>A	ENST00000317905.5	-	18	2780	c.2621C>T	c.(2620-2622)tCa>tTa	p.S874L	RECQL5_ENST00000423245.2_Missense_Mutation_p.S847L|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	874					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGGCTTGGCTGAGGGGCGTGG	0.647								Other identified genes with known or suspected DNA repair function																																									0													55.0	64.0	61.0					17																	73624482		2051	4179	6230	SO:0001583	missense	9400			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.2621C>T	17.37:g.73624482G>A	ENSP00000317636:p.Ser874Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.S874L	ENST00000317905.5	37	c.2621	CCDS42380.1	17	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826535	0.32329	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.56611	0.45	5.57	2.29	0.28610	.	0.716558	0.12092	N	0.500344	T	0.39226	0.1070	L	0.57536	1.79	0.09310	N	0.999997	P;P;B	0.44734	0.842;0.842;0.047	B;B;B	0.35114	0.138;0.196;0.032	T	0.19778	-1.0295	10	0.24483	T	0.36	-0.6848	4.6312	0.12502	0.0734:0.132:0.5228:0.2719	.	874;847;70	O94762;Q6P4G0;Q6FIC9	RECQ5_HUMAN;.;.	L	469;874;874	ENSP00000317636:S874L	ENSP00000317636:S874L	S	-	2	0	RECQL5	71136077	0.008000	0.16893	0.958000	0.39756	0.507000	0.33981	0.840000	0.27600	0.696000	0.31696	0.563000	0.77884	TCA	RECQL5	-	NULL		0.647	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	RECQL5	HGNC	protein_coding	OTTHUMT00000448207.1	G	NM_004259		73624482	-1	no_errors	ENST00000317905	ensembl	human	known	70_37	missense	SNP	0.027	A
RHPN2	85415	genome.wustl.edu	37	19	33502623	33502623	+	Silent	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr19:33502623G>A	ENST00000254260.3	-	6	590	c.555C>T	c.(553-555)ttC>ttT	p.F185F	RHPN2_ENST00000400226.4_Silent_p.F34F	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	185	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TGGGCGGGAAGAATCGACTCT	0.577																																																	0													72.0	58.0	63.0					19																	33502623		2203	4300	6503	SO:0001819	synonymous_variant	85415			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.555C>T	19.37:g.33502623G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Silent	SNP	pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom	p.F185	ENST00000254260.3	37	c.555	CCDS12427.1	19																																																																																			RHPN2	-	pfam_BRO1_dom,pfscan_BRO1_dom		0.577	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN2	HGNC	protein_coding	OTTHUMT00000450828.2	G	NM_033103		33502623	-1	no_errors	ENST00000254260	ensembl	human	known	70_37	silent	SNP	1.000	A
ROBO3	64221	genome.wustl.edu	37	11	124743605	124743605	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr11:124743605T>C	ENST00000397801.1	+	11	1823	c.1631T>C	c.(1630-1632)gTa>gCa	p.V544A	ROBO3_ENST00000538940.1_Missense_Mutation_p.V522A	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	544					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GACTGGGGAGTATCACCAGAC	0.522																																																	0													32.0	36.0	35.0					11																	124743605		1856	4091	5947	SO:0001583	missense	64221			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1631T>C	11.37:g.124743605T>C	ENSP00000380903:p.Val544Ala	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V544A	ENST00000397801.1	37	c.1631	CCDS44755.1	11	.	.	.	.	.	.	.	.	.	.	T	0.040	-1.288870	0.01387	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.63255	-0.03;-0.03	4.92	-2.69	0.06022	.	0.692570	0.11807	N	0.527593	T	0.18087	0.0434	N	0.00778	-1.195	0.19300	N	0.999975	B	0.06786	0.001	B	0.04013	0.001	T	0.32268	-0.9913	10	0.02654	T	1	.	0.8709	0.01213	0.1756:0.2483:0.3349:0.2413	.	544	Q96MS0	ROBO3_HUMAN	A	544;522	ENSP00000380903:V544A;ENSP00000441797:V522A	ENSP00000380903:V544A	V	+	2	0	ROBO3	124248815	0.000000	0.05858	0.077000	0.20336	0.831000	0.47069	-0.592000	0.05747	-0.234000	0.09782	0.460000	0.39030	GTA	ROBO3	-	NULL		0.522	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	HGNC	protein_coding	OTTHUMT00000387091.1	T	XM_370663		124743605	+1	no_errors	ENST00000397801	ensembl	human	known	70_37	missense	SNP	0.012	C
RYR2	6262	genome.wustl.edu	37	1	237890472	237890472	+	Missense_Mutation	SNP	G	G	A	rs56228594		TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr1:237890472G>A	ENST00000366574.2	+	76	11128	c.10811G>A	c.(10810-10812)cGg>cAg	p.R3604Q	RYR2_ENST00000542537.1_Missense_Mutation_p.R3588Q|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.R3602Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3604	Interaction with CALM.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R3602Q(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCTGCTTCCGGATGGCCCCC	0.403																																																	1	Substitution - Missense(1)	large_intestine(1)											86.0	82.0	83.0					1																	237890472		1837	4072	5909	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10811G>A	1.37:g.237890472G>A	ENSP00000355533:p.Arg3604Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.R3602Q	ENST00000366574.2	37	c.10805	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.348927	0.95807	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.98028	-4.66;-4.67;-4.65	4.98	4.98	0.66077	.	0.000000	0.52532	U	0.000065	D	0.98585	0.9527	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99755	1.1019	10	0.66056	D	0.02	-11.231	18.6478	0.91418	0.0:0.0:1.0:0.0	.	3604	Q92736	RYR2_HUMAN	Q	3604;3602;3588;559	ENSP00000355533:R3604Q;ENSP00000353174:R3602Q;ENSP00000443798:R3588Q	ENSP00000353174:R3602Q	R	+	2	0	RYR2	235957095	1.000000	0.71417	0.989000	0.46669	0.965000	0.64279	9.813000	0.99286	2.475000	0.83589	0.650000	0.86243	CGG	RYR2	-	NULL		0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237890472	+1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	A
SEL1L2	80343	genome.wustl.edu	37	20	13899729	13899729	+	Silent	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr20:13899729G>A	ENST00000284951.5	-	4	398	c.324C>T	c.(322-324)gaC>gaT	p.D108D	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.D108D			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	108						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TAAATAGCTGGTCTCCTTCAT	0.313																																																	0													178.0	157.0	164.0					20																	13899729		1814	4074	5888	SO:0001819	synonymous_variant	80343			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.324C>T	20.37:g.13899729G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DXX5	Silent	SNP	pfam_Sel1-like,smart_Sel1-like	p.D108	ENST00000284951.5	37	c.324		20																																																																																			SEL1L2	-	smart_Sel1-like		0.313	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SEL1L2	HGNC	protein_coding	OTTHUMT00000078067.3	G	NM_025229		13899729	-1	no_errors	ENST00000284951	ensembl	human	known	70_37	silent	SNP	0.026	A
SETD9	133383	genome.wustl.edu	37	5	56209780	56209780	+	Silent	SNP	C	C	T	rs539773583	byFrequency	TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr5:56209780C>T	ENST00000285947.2	+	4	1056	c.670C>T	c.(670-672)Ctg>Ttg	p.L224L	SETD9_ENST00000475908.1_3'UTR|SETD9_ENST00000541720.1_Silent_p.L224L	NM_153706.3	NP_714917.2	Q8NE22	SETD9_HUMAN	SET domain containing 9	224	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)										TCATAACCCTCTGGCTGTGGG	0.418													C|||	2	0.000399361	0.0	0.0029	5008	,	,		15749	0.0		0.0	False		,,,				2504	0.0																0													107.0	99.0	102.0					5																	56209780		2203	4300	6503	SO:0001819	synonymous_variant	133383			BC036528	CCDS3972.1	5q11.2	2012-02-23	2012-02-23	2012-02-23	ENSG00000155542	ENSG00000155542			28508	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 35"""	C5orf35		20930037	Standard	NM_153706		Approved	MGC33648	uc003jqx.3	Q8NE22	OTTHUMG00000059485	ENST00000285947.2:c.670C>T	5.37:g.56209780C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	F5H713	Silent	SNP	NULL	p.L224	ENST00000285947.2	37	c.670	CCDS3972.1	5																																																																																			SETD9	-	NULL		0.418	SETD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD9	HGNC	protein_coding	OTTHUMT00000132304.2	C	NM_153706		56209780	+1	no_errors	ENST00000285947	ensembl	human	known	70_37	silent	SNP	1.000	T
SETX	23064	genome.wustl.edu	37	9	135202135	135202135	+	Missense_Mutation	SNP	G	G	A	rs572037695		TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr9:135202135G>A	ENST00000224140.5	-	10	5032	c.4850C>T	c.(4849-4851)tCt>tTt	p.S1617F	SETX_ENST00000393220.1_Missense_Mutation_p.S1617F|SETX_ENST00000372169.2_Missense_Mutation_p.S1617F	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1617					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AAGTGCTGAAGAAGTTTCCAA	0.418													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19658	0.0		0.0	False		,,,				2504	0.0																0													103.0	99.0	101.0					9																	135202135		2203	4300	6503	SO:0001583	missense	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.4850C>T	9.37:g.135202135G>A	ENSP00000224140:p.Ser1617Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	NULL	p.S1617F	ENST00000224140.5	37	c.4850	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	G	1.532	-0.544179	0.04024	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.86865	-2.1;-2.18;-1.79	4.72	2.72	0.32119	.	1.434360	0.04093	N	0.311622	T	0.76205	0.3955	N	0.19112	0.55	0.09310	N	1	B;B;B	0.18610	0.029;0.002;0.007	B;B;B	0.18561	0.022;0.002;0.01	T	0.62369	-0.6869	10	0.09338	T	0.73	.	4.9206	0.13867	0.2891:0.1842:0.5267:0.0	.	1617;1617;1617	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	F	1617	ENSP00000224140:S1617F;ENSP00000361242:S1617F;ENSP00000376913:S1617F	ENSP00000224140:S1617F	S	-	2	0	SETX	134191956	0.000000	0.05858	0.001000	0.08648	0.058000	0.15608	0.193000	0.17116	0.991000	0.38814	0.655000	0.94253	TCT	SETX	-	NULL		0.418	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	G	NM_015046		135202135	-1	no_errors	ENST00000372169	ensembl	human	known	70_37	missense	SNP	0.000	A
SHBG	6462	genome.wustl.edu	37	17	7534569	7534569	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr17:7534569G>C	ENST00000380450.4	+	4	476	c.445G>C	c.(445-447)Gag>Cag	p.E149Q	SHBG_ENST00000570547.1_Missense_Mutation_p.E91Q|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000416273.3_Missense_Mutation_p.E149Q|SHBG_ENST00000340624.5_Missense_Mutation_p.E91Q|SHBG_ENST00000441599.2_Missense_Mutation_p.E149Q|SHBG_ENST00000575314.1_Missense_Mutation_p.E91Q|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000575903.1_Missense_Mutation_p.E149Q|SHBG_ENST00000574539.1_Missense_Mutation_p.E91Q|SHBG_ENST00000576478.1_Intron	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	149	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Drostanolone(DB00858)|Estradiol(DB00783)|Estropipate(DB04574)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Methyltestosterone(DB06710)|Mitotane(DB00648)|Norethindrone(DB00717)|Spironolactone(DB00421)|Testosterone(DB00624)|transdermal testosterone gel(DB05275)	GGATGGGGAGGAGGTGCTGCG	0.607																																																	2	Unknown(1)|Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)|bone(1)											46.0	39.0	42.0					17																	7534569		2202	4300	6502	SO:0001583	missense	6462				CCDS11117.1, CCDS54082.1, CCDS54083.1, CCDS58513.1, CCDS73961.1, CCDS73962.1	17p13.1	2013-09-19			ENSG00000129214	ENSG00000129214			10839	protein-coding gene	gene with protein product	"""androgen binding protein"""	182205				2587256	Standard	NM_001146279		Approved	ABP, TEBG, MGC126834, MGC138391	uc002gie.2	P04278	OTTHUMG00000108153	ENST00000380450.4:c.445G>C	17.37:g.7534569G>C	ENSP00000369816:p.Glu149Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.E149Q	ENST00000380450.4	37	c.445	CCDS11117.1	17	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825335	0.90955	.	.	ENSG00000129214	ENST00000340624;ENST00000441599;ENST00000416273;ENST00000380450	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	4.36	4.36	0.52297	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.651937	0.15772	N	0.245362	D	0.84257	0.5432	M	0.63843	1.955	0.37170	D	0.902997	P;P;D;P;P;D	0.76494	0.913;0.913;0.999;0.796;0.929;0.96	P;P;D;B;P;P	0.80764	0.477;0.477;0.994;0.429;0.612;0.685	T	0.81846	-0.0745	10	0.20519	T	0.43	-14.0161	12.5671	0.56316	0.0:0.0:1.0:0.0	.	149;144;149;122;149;91	F5H5Z8;P04278-2;E9PGW1;B0FWH4;P04278;B4DYU0	.;.;.;.;SHBG_HUMAN;.	Q	91;149;149;149	ENSP00000345675:E91Q;ENSP00000393426:E149Q;ENSP00000388867:E149Q;ENSP00000369816:E149Q	ENSP00000345675:E91Q	E	+	1	0	SHBG	7475294	0.874000	0.30092	0.729000	0.30791	0.662000	0.39071	1.339000	0.33885	2.426000	0.82243	0.462000	0.41574	GAG	SHBG	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.607	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SHBG	HGNC	protein_coding	OTTHUMT00000226957.2	G	NM_001040		7534569	+1	no_errors	ENST00000380450	ensembl	human	known	70_37	missense	SNP	0.929	C
SHPRH	257218	genome.wustl.edu	37	6	146256116	146256116	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr6:146256116G>A	ENST00000367505.2	-	13	3181	c.2917C>T	c.(2917-2919)Cca>Tca	p.P973S	SHPRH_ENST00000367503.3_Missense_Mutation_p.P973S|SHPRH_ENST00000438092.2_Missense_Mutation_p.P973S|SHPRH_ENST00000275233.7_Missense_Mutation_p.P973S			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	973					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTCAGCAATGGATACAGGATA	0.478																																																	0													70.0	72.0	71.0					6																	146256116		1911	4143	6054	SO:0001583	missense	257218			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.2917C>T	6.37:g.146256116G>A	ENSP00000356475:p.Pro973Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Histone_H1/H5,superfamily_Znf_FYVE_PHD,superfamily_WW_Rsp5_WWP,smart_Helicase_ATP-bd,smart_Histone_H1/H5,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C	p.P973S	ENST00000367505.2	37	c.2917	CCDS43513.2	6	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762465	0.89932	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	5.91	5.91	0.95273	SNF2-related (1);	0.000000	0.85682	D	0.000000	T	0.79381	0.4436	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.72626	-0.4236	10	0.24483	T	0.36	-16.8977	20.2983	0.98569	0.0:0.0:1.0:0.0	.	862;973;973	Q149N8-2;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	S	973	ENSP00000356475:P973S;ENSP00000356473:P973S;ENSP00000412797:P973S;ENSP00000275233:P973S	ENSP00000275233:P973S	P	-	1	0	SHPRH	146297809	1.000000	0.71417	0.637000	0.29366	0.906000	0.53458	9.869000	0.99810	2.802000	0.96397	0.655000	0.94253	CCA	SHPRH	-	pfam_SNF2_N		0.478	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHPRH	HGNC	protein_coding	OTTHUMT00000042571.2	G	NM_173082		146256116	-1	no_errors	ENST00000367503	ensembl	human	known	70_37	missense	SNP	1.000	A
LOC101928517	101928517	genome.wustl.edu	37	19	51671001	51671001	+	RNA	SNP	C	C	T	rs201877230	byFrequency	TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr19:51671001C>T	ENST00000600074.1	-	0	493				SIGLEC17P_ENST00000598286.1_RNA																							TCCACCTCCTCGGTGATCCCT	0.542													.|||	5	0.000998403	0.0	0.0	5008	,	,		19261	0.0		0.0	False		,,,				2504	0.0051																0																																												284367																															19.37:g.51671001C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000600074.1	37	NULL		19																																																																																			SIGLEC17P	-	-		0.542	CTD-3187F8.14-001	KNOWN	basic	antisense	SIGLEC17P	HGNC	antisense	OTTHUMT00000465635.1	C			51671001	+1	no_errors	ENST00000341811	ensembl	human	known	70_37	rna	SNP	0.000	T
SIK2	23235	genome.wustl.edu	37	11	111572232	111572232	+	Silent	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr11:111572232G>A	ENST00000304987.3	+	6	833	c.660G>A	c.(658-660)ccG>ccA	p.P220P		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	220	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TTGATGGACCGACTCTTCCAA	0.418																																																	0													242.0	215.0	224.0					11																	111572232		2201	4297	6498	SO:0001819	synonymous_variant	23235			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.660G>A	11.37:g.111572232G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P220	ENST00000304987.3	37	c.660	CCDS8347.1	11																																																																																			SIK2	-	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_Ser/Thr_kinase_SIK1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.418	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK2	HGNC	protein_coding	OTTHUMT00000319352.3	G	NM_015191		111572232	+1	no_errors	ENST00000304987	ensembl	human	known	70_37	silent	SNP	0.000	A
SLC28A1	9154	genome.wustl.edu	37	15	85451977	85451977	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr15:85451977C>T	ENST00000286749.3	+	8	836	c.746C>T	c.(745-747)tCc>tTc	p.S249F	SLC28A1_ENST00000537624.1_Missense_Mutation_p.S249F|SLC28A1_ENST00000538177.1_Missense_Mutation_p.S249F|SLC28A1_ENST00000394573.1_Missense_Mutation_p.S249F|SLC28A1_ENST00000537216.1_Missense_Mutation_p.S249F|SLC28A1_ENST00000537703.1_Missense_Mutation_p.S171F			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	249					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	AAGGCTGGCTCCAGCTTCGTG	0.562																																																	0													78.0	76.0	77.0					15																	85451977		2203	4299	6502	SO:0001583	missense	9154			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.746C>T	15.37:g.85451977C>T	ENSP00000286749:p.Ser249Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac	p.S249F	ENST00000286749.3	37	c.746	CCDS10334.1	15	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756379	0.49362	.	.	ENSG00000156222	ENST00000537216;ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573;ENST00000537703	T;T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44;2.44	4.59	4.59	0.56863	Na dependent nucleoside transporter (1);	0.121861	0.64402	D	0.000019	T	0.51856	0.1699	H	0.94771	3.58	0.58432	D	0.999999	D;P;D;D;D	0.89917	0.998;0.946;1.0;0.962;0.996	D;D;D;P;D	0.83275	0.983;0.919;0.996;0.908;0.983	T	0.64786	-0.6325	10	0.87932	D	0	0.0337	12.7698	0.57415	0.0:1.0:0.0:0.0	.	249;249;249;171;249	B7Z533;F5H560;B7Z3L6;B7Z3M4;O00337	.;.;.;.;S28A1_HUMAN	F	249;249;249;249;249;171	ENSP00000440546:S249F;ENSP00000443752:S249F;ENSP00000444700:S249F;ENSP00000286749:S249F;ENSP00000378074:S249F;ENSP00000443764:S171F	ENSP00000286749:S249F	S	+	2	0	SLC28A1	83252981	1.000000	0.71417	1.000000	0.80357	0.224000	0.24922	5.541000	0.67212	2.381000	0.81170	0.561000	0.74099	TCC	SLC28A1	-	pfam_Nuclsd_transpt2,tigrfam_C_nuclsd_transpt_met_bac		0.562	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC28A1	HGNC	protein_coding	OTTHUMT00000308998.2	C			85451977	+1	no_errors	ENST00000286749	ensembl	human	known	70_37	missense	SNP	1.000	T
SMG1	23049	genome.wustl.edu	37	16	18859259	18859259	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr16:18859259G>A	ENST00000446231.2	-	37	6132	c.5720C>T	c.(5719-5721)tCt>tTt	p.S1907F	SMG1_ENST00000389467.3_Missense_Mutation_p.S1907F			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1907	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S1903F(1)|p.S1907F(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GCTATCCTGAGATGCAGGAGG	0.398																																																	2	Substitution - Missense(2)	urinary_tract(2)											141.0	131.0	134.0					16																	18859259		1884	4118	6002	SO:0001583	missense	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.5720C>T	16.37:g.18859259G>A	ENSP00000402515:p.Ser1907Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,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.S1907F	ENST00000446231.2	37	c.5720	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164336	0.57476	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01159	5.25;5.25	5.85	4.89	0.63831	Armadillo-type fold (1);	0.085383	0.51477	D	0.000083	T	0.01421	0.0046	L	0.34521	1.04	0.40225	D	0.977788	B;P	0.39551	0.16;0.678	B;B	0.33799	0.034;0.17	T	0.68179	-0.5477	10	0.59425	D	0.04	.	16.3236	0.82964	0.0:0.0:0.8666:0.1334	.	1767;1907	Q96Q15-2;Q96Q15	.;SMG1_HUMAN	F	1907	ENSP00000402515:S1907F;ENSP00000374118:S1907F	ENSP00000374118:S1907F	S	-	2	0	SMG1	18766760	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.639000	0.61361	1.455000	0.47813	-0.282000	0.10007	TCT	SMG1	-	superfamily_ARM-type_fold		0.398	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	G	NM_015092		18859259	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	missense	SNP	1.000	A
SMG8	55181	genome.wustl.edu	37	17	57287571	57287571	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr17:57287571C>A	ENST00000543872.2	+	2	423	c.159C>A	c.(157-159)ttC>ttA	p.F53L	SMG8_ENST00000300917.5_Missense_Mutation_p.F53L|SMG8_ENST00000578922.1_Missense_Mutation_p.F53L|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_3'UTR			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	53					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TGGGAATCTTCGGCAAGACGG	0.607																																																	0													53.0	48.0	50.0					17																	57287571		2203	4300	6503	SO:0001583	missense	55181			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.159C>A	17.37:g.57287571C>A	ENSP00000438748:p.Phe53Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	pfam_Smg8/Smg9	p.F53L	ENST00000543872.2	37	c.159	CCDS11615.1	17	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643453	0.67244	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.38722	1.12;1.12	5.47	2.29	0.28610	.	0.000000	0.85682	D	0.000000	T	0.48003	0.1476	L	0.29908	0.895	0.48571	D	0.99967	D	0.56521	0.976	D	0.75020	0.985	T	0.43180	-0.9407	10	0.87932	D	0	-13.9643	9.6777	0.40050	0.0:0.7639:0.0:0.2361	.	53	Q8ND04	SMG8_HUMAN	L	53	ENSP00000300917:F53L;ENSP00000438748:F53L	ENSP00000300917:F53L	F	+	3	2	SMG8	54642353	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	0.971000	0.29396	0.318000	0.23185	-0.345000	0.07892	TTC	SMG8	-	pfam_Smg8/Smg9		0.607	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG8	HGNC	protein_coding	OTTHUMT00000445960.2	C	NM_018149		57287571	+1	no_errors	ENST00000300917	ensembl	human	known	70_37	missense	SNP	1.000	A
SPTAN1	6709	genome.wustl.edu	37	9	131331147	131331147	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr9:131331147G>A	ENST00000372731.4	+	3	444	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	SPTAN1_ENST00000358161.5_Missense_Mutation_p.E112K|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E112K	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	112					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GATGATCTCAGAAGGGCATTT	0.468																																					NSCLC(120;833 1744 2558 35612 37579)												0													115.0	105.0	109.0					9																	131331147		2203	4300	6503	SO:0001583	missense	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.334G>A	9.37:g.131331147G>A	ENSP00000361816:p.Glu112Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.E112K	ENST00000372731.4	37	c.334	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.315517	0.95655	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.52754	0.65;0.65;0.65	5.87	5.87	0.94306	.	0.047883	0.85682	D	0.000000	T	0.62974	0.2472	L	0.45285	1.41	0.80722	D	1	P;D;P;P;P	0.65815	0.708;0.995;0.651;0.624;0.471	P;D;B;B;B	0.70935	0.585;0.971;0.269;0.291;0.3	T	0.57458	-0.7808	10	0.44086	T	0.13	.	19.5705	0.95413	0.0:0.0:1.0:0.0	.	112;112;112;112;112	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	K	112	ENSP00000350882:E112K;ENSP00000361816:E112K;ENSP00000361824:E112K	ENSP00000350882:E112K	E	+	1	0	SPTAN1	130370968	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.941000	0.99782	0.655000	0.94253	GAA	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.468	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	G	NM_003127		131331147	+1	no_errors	ENST00000358161	ensembl	human	known	70_37	missense	SNP	1.000	A
ST6GAL2	84620	genome.wustl.edu	37	2	107460106	107460106	+	Missense_Mutation	SNP	C	C	G	rs200701778		TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr2:107460106C>G	ENST00000409382.3	-	2	938	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.E110Q|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.E110Q|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	110					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GAAAAAAACTCTTTATGTTCA	0.567																																																	0													55.0	66.0	62.0					2																	107460106		2191	4294	6485	SO:0001583	missense	84620			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.328G>C	2.37:g.107460106C>G	ENSP00000386942:p.Glu110Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl	p.E110Q	ENST00000409382.3	37	c.328	CCDS2073.1	2	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713802	0.30413	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.42900	2.02;2.02;0.96	5.54	3.71	0.42584	.	0.421340	0.28403	N	0.015479	T	0.51449	0.1675	L	0.47190	1.495	0.35264	D	0.779853	D;D	0.76494	0.999;0.997	D;P	0.69479	0.964;0.879	T	0.58429	-0.7638	10	0.38643	T	0.18	-23.6281	8.8133	0.34981	0.0:0.6374:0.2863:0.0763	.	110;110	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	Q	110	ENSP00000355273:E110Q;ENSP00000386942:E110Q;ENSP00000387332:E110Q	ENSP00000355273:E110Q	E	-	1	0	ST6GAL2	106826538	0.950000	0.32346	0.006000	0.13384	0.105000	0.19272	4.324000	0.59228	0.670000	0.31165	0.655000	0.94253	GAG	ST6GAL2	-	NULL		0.567	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ST6GAL2	HGNC	protein_coding	OTTHUMT00000330065.1	C	NM_032528		107460106	-1	no_errors	ENST00000361686	ensembl	human	known	70_37	missense	SNP	0.834	G
ST6GAL2	84620	genome.wustl.edu	37	2	107460390	107460390	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr2:107460390C>T	ENST00000409382.3	-	2	654	c.44G>A	c.(43-45)gGa>gAa	p.G15E	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G15E|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G15E|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	15					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						AGCGAATATTCCGAAAAGCAT	0.517																																																	0													52.0	59.0	57.0					2																	107460390		2203	4300	6503	SO:0001583	missense	84620			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.44G>A	2.37:g.107460390C>T	ENSP00000386942:p.Gly15Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl	p.G15E	ENST00000409382.3	37	c.44	CCDS2073.1	2	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495269	0.26774	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087;ENST00000419159	T;T;T	0.40756	2.07;2.07;1.02	5.74	4.86	0.63082	.	0.152835	0.64402	D	0.000020	T	0.61502	0.2352	L	0.60455	1.87	0.53688	D	0.999974	D;D	0.71674	0.998;0.997	D;D	0.75484	0.986;0.967	T	0.65705	-0.6103	10	0.87932	D	0	-23.2595	16.0748	0.80962	0.0:0.8661:0.1339:0.0	.	15;15	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	E	15	ENSP00000355273:G15E;ENSP00000386942:G15E;ENSP00000387332:G15E	ENSP00000355273:G15E	G	-	2	0	ST6GAL2	106826822	0.984000	0.35163	0.165000	0.22776	0.274000	0.26718	2.651000	0.46674	1.395000	0.46643	0.655000	0.94253	GGA	ST6GAL2	-	NULL		0.517	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ST6GAL2	HGNC	protein_coding	OTTHUMT00000330065.1	C	NM_032528		107460390	-1	no_errors	ENST00000361686	ensembl	human	known	70_37	missense	SNP	0.865	T
STAT1	6772	genome.wustl.edu	37	2	191855956	191855956	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr2:191855956C>G	ENST00000361099.3	-	11	1422	c.1035G>C	c.(1033-1035)ttG>ttC	p.L345F	STAT1_ENST00000392323.2_Missense_Mutation_p.L347F|STAT1_ENST00000392322.3_Missense_Mutation_p.L345F|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.L345F	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	345					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			CTTGTTACCTCAACTTCACAG	0.478																																																	0													122.0	114.0	117.0					2																	191855956		2203	4300	6503	SO:0001583	missense	6772				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1035G>C	2.37:g.191855956C>G	ENSP00000354394:p.Leu345Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.L345F	ENST00000361099.3	37	c.1035	CCDS2309.1	2	.	.	.	.	.	.	.	.	.	.	C	18.16	3.563209	0.65538	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	5.55	2.44	0.29823	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.148230	0.44688	D	0.000429	T	0.81475	0.4830	M	0.78049	2.395	0.80722	D	1	D;P	0.52996	0.957;0.842	P;P	0.54238	0.746;0.629	T	0.81913	-0.0715	10	0.87932	D	0	-21.0065	6.9319	0.24445	0.1299:0.675:0.1255:0.0695	.	345;345	P42224-2;P42224	.;STAT1_HUMAN	F	345;345;345;347	ENSP00000354394:L345F;ENSP00000386244:L345F;ENSP00000376136:L345F;ENSP00000376137:L347F	ENSP00000354394:L345F	L	-	3	2	STAT1	191564201	0.996000	0.38824	0.998000	0.56505	0.813000	0.45954	0.411000	0.21115	1.344000	0.45657	0.561000	0.74099	TTG	STAT1	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.478	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT1	HGNC	protein_coding	OTTHUMT00000255997.3	C	NM_007315		191855956	-1	no_errors	ENST00000361099	ensembl	human	known	70_37	missense	SNP	1.000	G
STAT3	6774	genome.wustl.edu	37	17	40475064	40475064	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr17:40475064C>T	ENST00000264657.5	-	20	2158	c.1846G>A	c.(1846-1848)Gaa>Aaa	p.E616K	STAT3_ENST00000404395.3_Missense_Mutation_p.E616K|STAT3_ENST00000588969.1_Missense_Mutation_p.E616K|STAT3_ENST00000389272.3_Missense_Mutation_p.E518K|STAT3_ENST00000585517.1_Missense_Mutation_p.E616K	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	616	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.E616K(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		ACGCCTCCTTCTTTGCTGCTT	0.567									Hyperimmunoglobulin E Recurrent Infection Syndrome		OREG0024421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											130.0	121.0	124.0					17																	40475064		2203	4300	6503	SO:0001583	missense	6774	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1846G>A	17.37:g.40475064C>T	ENSP00000264657:p.Glu616Lys	Somatic	893	WXS	Illumina HiSeq	Phase_IV	A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.E616K	ENST00000264657.5	37	c.1846	CCDS32656.1	17	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605599	0.87157	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.88431	-2.38;-2.38;-2.38	5.29	5.29	0.74685	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.84383	0.5460	L	0.28400	0.85	0.80722	D	1	B;B;B	0.11235	0.003;0.004;0.004	B;B;B	0.11329	0.003;0.006;0.006	T	0.78239	-0.2281	10	0.36615	T	0.2	-26.4272	19.12	0.93358	0.0:1.0:0.0:0.0	.	616;616;616	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	K	616;518;616	ENSP00000264657:E616K;ENSP00000373923:E518K;ENSP00000384943:E616K	ENSP00000264657:E616K	E	-	1	0	STAT3	37728590	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.630000	0.83225	2.752000	0.94435	0.655000	0.94253	GAA	STAT3	-	pfam_SH2,pfscan_SH2		0.567	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT3	HGNC	protein_coding	OTTHUMT00000319353.3	C	NM_139276, NM_003150		40475064	-1	no_errors	ENST00000264657	ensembl	human	known	70_37	missense	SNP	1.000	T
SYT7	9066	genome.wustl.edu	37	11	61300491	61300491	+	Silent	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr11:61300491G>A	ENST00000263846.4	-	4	648	c.321C>T	c.(319-321)ctC>ctT	p.L107L	SYT7_ENST00000542670.1_Silent_p.L315L|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000539008.1_Silent_p.L390L|SYT7_ENST00000535826.1_Silent_p.L226L|SYT7_ENST00000542836.1_Silent_p.L151L|SYT7_ENST00000540677.1_Silent_p.L182L	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	107					exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGGAGTTGACGAGGTCTGAGA	0.647																																																	0													111.0	99.0	103.0					11																	61300491		2202	4299	6501	SO:0001819	synonymous_variant	9066			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.321C>T	11.37:g.61300491G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	F5GZU9|Q08AH6	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.L107	ENST00000263846.4	37	c.321	CCDS31577.1	11																																																																																			SYT7	-	NULL		0.647	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT7	HGNC	protein_coding	OTTHUMT00000398733.1	G	NM_004200		61300491	-1	no_errors	ENST00000263846	ensembl	human	known	70_37	silent	SNP	0.998	A
TAGAP	117289	genome.wustl.edu	37	6	159457435	159457435	+	Silent	SNP	C	C	T	rs200549687		TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr6:159457435C>T	ENST00000367066.3	-	10	1951	c.1620G>A	c.(1618-1620)ccG>ccA	p.P540P	RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Silent_p.P362P|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	540					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TGACACCCCTCGGGACGTGGT	0.562																																																	0													51.0	56.0	54.0					6																	159457435		2203	4300	6503	SO:0001819	synonymous_variant	117289			AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1620G>A	6.37:g.159457435C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P540	ENST00000367066.3	37	c.1620	CCDS5261.1	6																																																																																			TAGAP	-	NULL		0.562	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAGAP	HGNC	protein_coding	OTTHUMT00000042890.1	C	NM_054114		159457435	-1	no_errors	ENST00000367066	ensembl	human	known	70_37	silent	SNP	0.017	T
TAOK3	51347	genome.wustl.edu	37	12	118615108	118615108	+	Silent	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr12:118615108C>T	ENST00000392533.3	-	16	2083	c.1593G>A	c.(1591-1593)aaG>aaA	p.K531K	TAOK3_ENST00000419821.2_Silent_p.K531K|TAOK3_ENST00000537952.1_Silent_p.K71K	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	531					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTGGAACTTCTTCTCATCTG	0.353																																																	0													143.0	138.0	139.0					12																	118615108		2203	4300	6503	SO:0001819	synonymous_variant	51347			AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.1593G>A	12.37:g.118615108C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	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	p.K531	ENST00000392533.3	37	c.1593	CCDS9188.1	12																																																																																			TAOK3	-	NULL		0.353	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK3	HGNC	protein_coding	OTTHUMT00000401456.2	C	NM_016281		118615108	-1	no_errors	ENST00000392533	ensembl	human	known	70_37	silent	SNP	1.000	T
TGFBR3	7049	genome.wustl.edu	37	1	92184977	92184977	+	Silent	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr1:92184977G>A	ENST00000525962.1	-	9	1519	c.1458C>T	c.(1456-1458)acC>acT	p.T486T	TGFBR3_ENST00000370399.2_Silent_p.T485T|TGFBR3_ENST00000212355.4_Silent_p.T486T			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	486	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|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)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TGGCCTTGCAGGTAGGATCCA	0.542																																																	0													154.0	132.0	139.0					1																	92184977		2203	4300	6503	SO:0001819	synonymous_variant	7049			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1458C>T	1.37:g.92184977G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.T486	ENST00000525962.1	37	c.1458	CCDS30770.1	1																																																																																			TGFBR3	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom		0.542	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFBR3	HGNC	protein_coding	OTTHUMT00000382308.1	G	NM_003243		92184977	-1	no_errors	ENST00000212355	ensembl	human	known	70_37	silent	SNP	0.003	A
TARS2	80222	genome.wustl.edu	37	1	150463973	150463973	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr1:150463973C>T	ENST00000369064.3	+	5	650	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	TARS2_ENST00000438568.2_Missense_Mutation_p.S164L|TARS2_ENST00000369054.2_Missense_Mutation_p.R206C|TARS2_ENST00000606933.1_Missense_Mutation_p.R206C	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	206					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GGATCAGCTTCGCCAGTTGTT	0.532																																																	0													97.0	99.0	98.0					1																	150463973		2203	4300	6503	SO:0001583	missense	80222			BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.616C>T	1.37:g.150463973C>T	ENSP00000358060:p.Arg206Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.R206C	ENST00000369064.3	37	c.616	CCDS952.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.02|11.02	1.517385|1.517385	0.27123|0.27123	.|.	.|.	ENSG00000143374|ENSG00000143374	ENST00000369054;ENST00000369064|ENST00000438568	T;T|.	0.67523|.	-0.27;3.26|.	5.18|5.18	2.33|2.33	0.28932|0.28932	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);|.	0.418988|.	0.23784|.	N|.	0.044599|.	T|T	0.13841|0.13841	0.0335|0.0335	L|L	0.52266|0.52266	1.64|1.64	0.20975|0.20975	N|N	0.999819|0.999819	B;B|.	0.15473|.	0.0;0.013|.	B;B|.	0.09377|.	0.002;0.004|.	T|T	0.34153|0.34153	-0.9840|-0.9840	10|6	0.49607|0.06891	T|T	0.09|0.86	-14.5658|-14.5658	6.5472|6.5472	0.22412|0.22412	0.0:0.7145:0.0:0.2855|0.0:0.7145:0.0:0.2855	.|.	206;206|.	Q9H9V2;Q9BW92|.	.;SYTM_HUMAN|.	C|L	206|164	ENSP00000358050:R206C;ENSP00000358060:R206C|.	ENSP00000358050:R206C|ENSP00000415002:S164L	R|S	+|+	1|2	0|0	TARS2|TARS2	148730597|148730597	0.001000|0.001000	0.12720|0.12720	0.635000|0.635000	0.29338|0.29338	0.708000|0.708000	0.40852|0.40852	0.377000|0.377000	0.20552|0.20552	0.901000|0.901000	0.36495|0.36495	0.558000|0.558000	0.71614|0.71614	CGC|TCG	TARS2	-	superfamily_Thr/Ala-tRNA-synth_IIc_edit,tigrfam_Thr-tRNA-ligase_IIa		0.532	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS2	HGNC	protein_coding	OTTHUMT00000035847.1	C	NM_025150		150463973	+1	no_errors	ENST00000369064	ensembl	human	known	70_37	missense	SNP	0.845	T
TIAM1	7074	genome.wustl.edu	37	21	32638880	32638880	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr21:32638880C>A	ENST00000286827.3	-	5	880	c.409G>T	c.(409-411)Gat>Tat	p.D137Y	TIAM1_ENST00000541036.1_Missense_Mutation_p.D137Y|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	137					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GTAGCGTCATCCCCGTAAAGC	0.547																																																	0													100.0	86.0	91.0					21																	32638880		2203	4300	6503	SO:0001583	missense	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.409G>T	21.37:g.32638880C>A	ENSP00000286827:p.Asp137Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.D137Y	ENST00000286827.3	37	c.409	CCDS13609.1	21	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825632	0.50739	.	.	ENSG00000156299	ENST00000286827;ENST00000541036;ENST00000455508	T;T	0.48836	0.84;0.8	5.37	4.29	0.51040	.	0.440310	0.25117	N	0.033009	T	0.32971	0.0847	N	0.08118	0	0.40165	D	0.977108	P;P;P	0.48016	0.904;0.845;0.845	B;B;B	0.44044	0.439;0.254;0.254	T	0.44892	-0.9298	10	0.87932	D	0	.	14.9461	0.71032	0.0:0.9191:0.0:0.0809	.	137;137;137	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	Y	137	ENSP00000286827:D137Y;ENSP00000441570:D137Y	ENSP00000286827:D137Y	D	-	1	0	TIAM1	31560751	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.201000	0.58439	2.504000	0.84457	0.591000	0.81541	GAT	TIAM1	-	NULL		0.547	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	C	NM_003253		32638880	-1	no_errors	ENST00000286827	ensembl	human	known	70_37	missense	SNP	1.000	A
TMEM30A	55754	genome.wustl.edu	37	6	75975015	75975015	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr6:75975015G>A	ENST00000230461.6	-	3	714	c.385C>T	c.(385-387)Caa>Taa	p.Q129*	TMEM30A_ENST00000475111.2_Nonsense_Mutation_p.Q93*|TMEM30A_ENST00000370050.5_Nonsense_Mutation_p.Q10*	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	129					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CGATGGTTTTGATAGAAATTA	0.299																																																	0													75.0	73.0	74.0					6																	75975015		2203	4298	6501	SO:0001587	stop_gained	55754			AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"""chromosome 6 open reading frame 67"""	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.385C>T	6.37:g.75975015G>A	ENSP00000230461:p.Gln129*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Nonsense_Mutation	SNP	pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk	p.Q129*	ENST00000230461.6	37	c.385	CCDS4983.1	6	.	.	.	.	.	.	.	.	.	.	G	42	9.362547	0.99148	.	.	ENSG00000112697	ENST00000230461;ENST00000545449;ENST00000370050;ENST00000475111;ENST00000518161	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.2885	0.98538	0.0:0.0:1.0:0.0	.	.	.	.	X	129;113;10;93;10	.	ENSP00000230461:Q129X	Q	-	1	0	TMEM30A	76031735	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.739000	0.98837	2.791000	0.96007	0.650000	0.86243	CAA	TMEM30A	-	pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk		0.299	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM30A	HGNC	protein_coding	OTTHUMT00000041248.2	G	NM_018247		75975015	-1	no_errors	ENST00000230461	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TMPRSS6	164656	genome.wustl.edu	37	22	37485664	37485664	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr22:37485664C>T	ENST00000346753.3	-	7	933	c.817G>A	c.(817-819)Gcc>Acc	p.A273T	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.A264T|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.A264T|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.A273T|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.A264T	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	273	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TCATACATGGCCAGTCGGTCC	0.652																																																	0													24.0	24.0	24.0					22																	37485664		2203	4300	6503	SO:0001583	missense	164656			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.817G>A	22.37:g.37485664C>T	ENSP00000334962:p.Ala273Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6	p.A264T	ENST00000346753.3	37	c.790	CCDS13941.1	22	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530390	0.27387	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782	T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36	4.37	4.37	0.52481	CUB (1);	0.308236	0.31721	N	0.007172	T	0.40473	0.1118	L	0.32530	0.975	0.44816	D	0.997821	P;B;B	0.42518	0.782;0.264;0.172	B;B;B	0.38712	0.28;0.05;0.023	T	0.27571	-1.0070	10	0.10111	T	0.7	.	17.2674	0.87090	0.0:1.0:0.0:0.0	.	273;264;273	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	T	264;273;264;264;273	ENSP00000371211:A264T;ENSP00000334962:A273T;ENSP00000385453:A264T;ENSP00000384964:A264T;ENSP00000397691:A273T	ENSP00000334962:A273T	A	-	1	0	TMPRSS6	35815610	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.434000	0.44802	2.126000	0.65437	0.462000	0.41574	GCC	TMPRSS6	-	pirsf_Pept_S1A_matriptase-2,superfamily_CUB		0.652	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	TMPRSS6	HGNC	protein_coding	OTTHUMT00000318822.1	C	NM_153609		37485664	-1	no_errors	ENST00000381792	ensembl	human	known	70_37	missense	SNP	1.000	T
TOR1A	1861	genome.wustl.edu	37	9	132576379	132576379	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr9:132576379C>G	ENST00000351698.4	-	5	919	c.871G>C	c.(871-873)Gaa>Caa	p.E291Q		NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	291	Interaction with KLC1.				ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				TCATCAATTTCATAGCCTCGG	0.433																																																	0													211.0	200.0	204.0					9																	132576379		2203	4300	6503	SO:0001583	missense	1861			AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"""dystonia 1, torsion (autosomal dominant; torsin A)"""	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.871G>C	9.37:g.132576379C>G	ENSP00000345719:p.Glu291Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RB58|Q53Y64|Q96CA0	Missense_Mutation	SNP	pfam_Torsin,pirsf_Torsin_subgr	p.E291Q	ENST00000351698.4	37	c.871	CCDS6930.1	9	.	.	.	.	.	.	.	.	.	.	C	6.485	0.457644	0.12342	.	.	ENSG00000136827	ENST00000427355;ENST00000351698	T	0.63913	-0.07	5.27	5.27	0.74061	.	0.592730	0.18353	N	0.143809	T	0.52338	0.1728	L	0.34521	1.04	0.09310	N	1	B	0.15719	0.014	B	0.12156	0.007	T	0.27839	-1.0062	10	0.15952	T	0.53	-13.0814	17.8532	0.88754	0.0:1.0:0.0:0.0	.	291	O14656	TOR1A_HUMAN	Q	260;291	ENSP00000345719:E291Q	ENSP00000345719:E291Q	E	-	1	0	TOR1A	131616200	0.000000	0.05858	0.014000	0.15608	0.458000	0.32498	-0.117000	0.10708	2.439000	0.82584	0.561000	0.74099	GAA	TOR1A	-	pirsf_Torsin_subgr		0.433	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR1A	HGNC	protein_coding	OTTHUMT00000054611.1	C	NM_000113		132576379	-1	no_errors	ENST00000351698	ensembl	human	known	70_37	missense	SNP	0.018	G
SLC38A6	145389	genome.wustl.edu	37	14	61446334	61446334	+	5'Flank	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr14:61446334G>A	ENST00000267488.4	+	0	0				SLC38A6_ENST00000354886.2_5'Flank|TRMT5_ENST00000261249.6_Silent_p.V94V|RP11-193F5.1_ENST00000553946.1_RNA|SLC38A6_ENST00000456840.2_5'Flank	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6						amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		CTGGAATGTTGACTGTCTTTT	0.418																																																	0													207.0	207.0	207.0					14																	61446334		2203	4300	6503	SO:0001631	upstream_gene_variant	57570			AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"""Solute carriers"""	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335		14.37:g.61446334G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JWA6|Q86SY5	Silent	SNP	pfam_tRNA_Trfase_Trm5/Tyw2	p.V94	ENST00000267488.4	37	c.282	CCDS9751.1	14																																																																																			TRMT5	-	NULL		0.418	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT5	HGNC	protein_coding	OTTHUMT00000276957.1	G			61446334	-1	no_errors	ENST00000261249	ensembl	human	known	70_37	silent	SNP	0.005	A
TTN	7273	genome.wustl.edu	37	2	179612885	179612885	+	Intron	SNP	G	G	C			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr2:179612885G>C	ENST00000591111.1	-	45	10585				TTN_ENST00000360870.5_Missense_Mutation_p.L4748V|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTCAGAAAGATCAGTTTCT	0.368																																																	0													67.0	68.0	67.0					2																	179612885		2202	4296	6498	SO:0001627	intron_variant	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.10360+4965C>G	2.37:g.179612885G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	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_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L4748V	ENST00000591111.1	37	c.14242		2	.	.	.	.	.	.	.	.	.	.	G	2.664	-0.279111	0.05642	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.51325	0.71	5.32	-7.53	0.01336	.	.	.	.	.	T	0.17238	0.0414	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28427	-1.0044	9	0.25751	T	0.34	.	8.8149	0.34989	0.0:0.3587:0.3828:0.2586	.	4748	Q8WZ42-6	.	V	4748;62	ENSP00000354117:L4748V	ENSP00000304714:L62V	L	-	1	0	TTN	179321130	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.261000	0.02855	-1.025000	0.03334	-0.271000	0.10264	CTT	TTN	-	NULL		0.368	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179612885	-1	no_errors	ENST00000360870	ensembl	human	known	70_37	missense	SNP	0.000	C
TUBA3E	112714	genome.wustl.edu	37	2	130953801	130953801	+	Silent	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr2:130953801G>A	ENST00000312988.7	-	2	247	c.147C>T	c.(145-147)ttC>ttT	p.F49F		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	49					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.F49F(1)		endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					AGAACGTGTTGAAGGAGTCGT	0.557																																																	1	Substitution - coding silent(1)	endometrium(1)											73.0	66.0	68.0					2																	130953801		2203	4298	6501	SO:0001819	synonymous_variant	112714			BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.147C>T	2.37:g.130953801G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin	p.F49	ENST00000312988.7	37	c.147	CCDS2158.1	2																																																																																			TUBA3E	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin		0.557	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3E	HGNC	protein_coding	OTTHUMT00000254519.1	G	NM_207312		130953801	-1	no_errors	ENST00000312988	ensembl	human	known	70_37	silent	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179614188	179614188	+	Intron	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr2:179614188C>T	ENST00000591111.1	-	45	10585				TTN_ENST00000360870.5_Silent_p.E4313E|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTCAATAGTCTCAAGGCTTT	0.383																																																	0													72.0	75.0	74.0					2																	179614188		2203	4298	6501	SO:0001627	intron_variant	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.10360+3662G>A	2.37:g.179614188C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E4313	ENST00000591111.1	37	c.12939		2																																																																																			TTN	-	NULL		0.383	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179614188	-1	no_errors	ENST00000360870	ensembl	human	known	70_37	silent	SNP	0.956	T
UGT1A4	54657	genome.wustl.edu	37	2	234628184	234628184	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr2:234628184C>G	ENST00000373409.3	+	1	761	c.718C>G	c.(718-720)Cag>Gag	p.Q240E	UGT1A1_ENST00000608381.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000373450.4_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	240					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	TGAGCTTTTTCAGAGAGAGGT	0.512																																					Melanoma(99;1011 1962 13201 26492)												0													238.0	231.0	233.0					2																	234628184		2203	4300	6503	SO:0001583	missense	54657			M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"""UDP glucuronosyltransferases"""	12536	other	complex locus constituent		606429	"""UDP glycosyltransferase 1 family, polypeptide A4"""			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.718C>G	2.37:g.234628184C>G	ENSP00000362508:p.Gln240Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R937|B8K288|Q5DT00	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.Q240E	ENST00000373409.3	37	c.718	CCDS33405.1	2	.	.	.	.	.	.	.	.	.	.	C	1.281	-0.610389	0.03690	.	.	ENSG00000244474	ENST00000373409	T	0.59772	0.24	4.35	2.43	0.29744	.	.	.	.	.	T	0.51856	0.1699	L	0.56340	1.77	0.24399	N	0.994715	B;B	0.09022	0.002;0.001	B;B	0.17722	0.013;0.019	T	0.51028	-0.8757	9	0.66056	D	0.02	.	9.5344	0.39213	0.1511:0.5568:0.2922:0.0	.	240;240	B8K288;P22310	.;UD14_HUMAN	E	240	ENSP00000362508:Q240E	ENSP00000362508:Q240E	Q	+	1	0	UGT1A4	234292923	0.010000	0.17322	0.234000	0.24042	0.145000	0.21501	0.515000	0.22801	0.809000	0.34255	-0.325000	0.08501	CAG	UGT1A4	-	pfam_UDP_glucos_trans		0.512	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A4	HGNC	protein_coding	OTTHUMT00000130984.1	C	NM_007120		234628184	+1	no_errors	ENST00000373409	ensembl	human	known	70_37	missense	SNP	0.695	G
UNC79	57578	genome.wustl.edu	37	14	94088400	94088400	+	Silent	SNP	G	G	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr14:94088400G>T	ENST00000393151.2	+	30	4821	c.4821G>T	c.(4819-4821)ctG>ctT	p.L1607L	UNC79_ENST00000256339.4_Silent_p.L1430L|UNC79_ENST00000553484.1_Silent_p.L1629L|UNC79_ENST00000555664.1_Silent_p.L1607L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1607					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L1430L(1)|p.L1629L(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATTTAGATCTGATAGATCTAT	0.473																																																	2	Substitution - coding silent(2)	urinary_tract(2)											70.0	74.0	73.0					14																	94088400		2203	4300	6503	SO:0001819	synonymous_variant	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4821G>T	14.37:g.94088400G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDL6|Q6ZUT7	Silent	SNP	superfamily_ARM-type_fold	p.L1629	ENST00000393151.2	37	c.4887		14																																																																																			UNC79	-	superfamily_ARM-type_fold		0.473	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	G	XM_028395		94088400	+1	no_errors	ENST00000553484	ensembl	human	known	70_37	silent	SNP	1.000	T
USP8	9101	genome.wustl.edu	37	15	50782647	50782647	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr15:50782647C>A	ENST00000396444.3	+	14	2497	c.2159C>A	c.(2158-2160)cCa>cAa	p.P720Q	USP8_ENST00000425032.3_Missense_Mutation_p.P614Q|USP8_ENST00000433963.1_Missense_Mutation_p.P720Q|USP8_ENST00000307179.4_Missense_Mutation_p.P720Q	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	720					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.P720Q(2)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TACTCCTCCCCAGATATAACC	0.478																																																	2	Substitution - Missense(2)	urinary_tract(1)|lung(1)											114.0	114.0	114.0					15																	50782647		2196	4294	6490	SO:0001583	missense	9101			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2159C>A	15.37:g.50782647C>A	ENSP00000379721:p.Pro720Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19	p.P720Q	ENST00000396444.3	37	c.2159	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	C	32	5.145451	0.94603	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.02323	4.34;4.34;4.34;4.34	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.10852	0.0265	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.984;0.994	T	0.03463	-1.1034	10	0.52906	T	0.07	-13.2942	19.9733	0.97292	0.0:1.0:0.0:0.0	.	614;720	B4DKA8;P40818	.;UBP8_HUMAN	Q	720;720;720;614	ENSP00000379721:P720Q;ENSP00000405537:P720Q;ENSP00000302239:P720Q;ENSP00000412682:P614Q	ENSP00000302239:P720Q	P	+	2	0	USP8	48569939	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.442000	0.80503	2.790000	0.95986	0.650000	0.86243	CCA	USP8	-	NULL		0.478	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1	C	NM_005154		50782647	+1	no_errors	ENST00000307179	ensembl	human	known	70_37	missense	SNP	1.000	A
VPS13A	23230	genome.wustl.edu	37	9	79840896	79840896	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr9:79840896G>T	ENST00000360280.3	+	14	1476	c.1216G>T	c.(1216-1218)Gaa>Taa	p.E406*	VPS13A_ENST00000376636.3_Nonsense_Mutation_p.E406*|VPS13A_ENST00000376634.4_Nonsense_Mutation_p.E406*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.E406*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	406					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACAGACGGCAGAAGTTGAGGT	0.264																																																	0													83.0	91.0	89.0					9																	79840896		2203	4286	6489	SO:0001587	stop_gained	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.1216G>T	9.37:g.79840896G>T	ENSP00000353422:p.Glu406*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Nonsense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.E406*	ENST00000360280.3	37	c.1216	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	G	40	8.018290	0.98613	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	.	.	.	5.51	5.51	0.81932	.	0.055266	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	19.0076	0.92857	0.0:0.0:1.0:0.0	.	.	.	.	X	406	.	ENSP00000349985:E406X	E	+	1	0	VPS13A	79030716	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.644000	0.74338	2.588000	0.87417	0.585000	0.79938	GAA	VPS13A	-	NULL		0.264	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	G	NM_015186		79840896	+1	no_errors	ENST00000360280	ensembl	human	known	70_37	nonsense	SNP	1.000	T
WDR81	124997	genome.wustl.edu	37	17	1639342	1639342	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr17:1639342C>T	ENST00000409644.1	+	9	5335	c.5335C>T	c.(5335-5337)Cga>Tga	p.R1779*	WDR81_ENST00000419248.1_Nonsense_Mutation_p.R552*|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Nonsense_Mutation_p.R410*|WDR81_ENST00000309182.5_Nonsense_Mutation_p.R728*|WDR81_ENST00000446363.1_Nonsense_Mutation_p.R418*|WDR81_ENST00000437219.2_Nonsense_Mutation_p.R576*	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1779					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCACGAGTTCCGACTGGGCGG	0.662																																																	0													50.0	46.0	48.0					17																	1639342		2203	4298	6501	SO:0001587	stop_gained	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.5335C>T	17.37:g.1639342C>T	ENSP00000386609:p.Arg1779*	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1779*	ENST00000409644.1	37	c.5335	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	C	42	9.268359	0.99120	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000409644;ENST00000354680;ENST00000545662	.	.	.	5.81	5.81	0.92471	.	0.387180	0.23045	U	0.052577	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8533	0.70316	0.1437:0.8563:0.0:0.0	.	.	.	.	X	576;728;418;552;1779;530;410	.	ENSP00000312074:R728X	R	+	1	2	WDR81	1586092	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	4.426000	0.59882	2.745000	0.94114	0.655000	0.94253	CGA	WDR81	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.662	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	C	NM_152348		1639342	+1	no_errors	ENST00000409644	ensembl	human	known	70_37	nonsense	SNP	1.000	T
WHAMMP3	339005	genome.wustl.edu	37	15	23205108	23205108	+	RNA	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr15:23205108C>T	ENST00000400153.2	-	0	746					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		GTGGTTGCCACGGTAACTAAT	0.393																																																	0																																												339005			BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205108C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q1A5X8|Q52M16|Q52M18	RNA	SNP	-	NULL	ENST00000400153.2	37	NULL		15																																																																																			WHAMMP3	-	-		0.393	WHAMMP3-001	KNOWN	basic	processed_transcript	WHAMMP3	HGNC	pseudogene	OTTHUMT00000415907.1	C	NR_003521		23205108	-1	no_errors	ENST00000400153	ensembl	human	known	70_37	rna	SNP	1.000	T
ZBTB11	27107	genome.wustl.edu	37	3	101390764	101390764	+	Intron	SNP	C	C	G			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr3:101390764C>G	ENST00000312938.4	-	2	1127				ZBTB11_ENST00000461821.1_Missense_Mutation_p.A202P	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GTCACCAAGGCTGCAAATACT	0.368																																																	0																																										SO:0001627	intron_variant	27107			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.546+57G>C	3.37:g.101390764C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2NKP9	Missense_Mutation	SNP	NULL	p.A202P	ENST00000312938.4	37	c.604	CCDS2943.1	3	.	.	.	.	.	.	.	.	.	.	C	10.90	1.482345	0.26598	.	.	ENSG00000066422	ENST00000461821	T	0.37235	1.21	5.12	1.18	0.20946	.	.	.	.	.	T	0.21881	0.0527	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.20577	0.03	T	0.21965	-1.0230	8	0.33940	T	0.23	.	4.6899	0.12776	0.3025:0.5329:0.0:0.1646	.	202	C9J2L2	.	P	202	ENSP00000417369:A202P	ENSP00000417369:A202P	A	-	1	0	ZBTB11	102873454	0.000000	0.05858	0.000000	0.03702	0.392000	0.30506	-0.523000	0.06230	-0.064000	0.13043	-0.181000	0.13052	GCC	ZBTB11	-	NULL		0.368	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB11	HGNC	protein_coding	OTTHUMT00000353441.2	C	NM_014415		101390764	-1	no_errors	ENST00000461821	ensembl	human	putative	70_37	missense	SNP	0.000	G
ZBTB12	221527	genome.wustl.edu	37	6	31868750	31868750	+	Silent	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr6:31868750C>T	ENST00000375527.2	-	2	508	c.333G>A	c.(331-333)caG>caA	p.Q111Q	C2_ENST00000469372.1_Intron|C2_ENST00000452323.2_5'Flank	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	111					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						CGTGCTCCATCTGCAGGTAGG	0.567																																																	0													79.0	74.0	76.0					6																	31868750		2203	4300	6503	SO:0001819	synonymous_variant	221527			BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19066	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 46"""	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.333G>A	6.37:g.31868750C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0UY00|Q5JQ98	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.Q111	ENST00000375527.2	37	c.333	CCDS4727.1	6																																																																																			ZBTB12	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.567	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB12	HGNC	protein_coding	OTTHUMT00000076315.2	C	NM_181842		31868750	-1	no_errors	ENST00000375527	ensembl	human	known	70_37	silent	SNP	1.000	T
ZC3H12B	340554	genome.wustl.edu	37	X	64722635	64722635	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chrX:64722635C>T	ENST00000338957.4	+	5	2124	c.2057C>T	c.(2056-2058)cCt>cTt	p.P686L	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.P675L	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	686							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AATATCCATCCTGGGGCAACC	0.587																																																	0													39.0	41.0	40.0					X																	64722635		1970	4137	6107	SO:0001583	missense	340554			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.2057C>T	X.37:g.64722635C>T	ENSP00000340839:p.Pro686Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.P686L	ENST00000338957.4	37	c.2057	CCDS48131.2	X	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128580	0.37533	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.23950	1.88;1.88	5.79	3.93	0.45458	.	0.212807	0.50627	D	0.000119	T	0.25044	0.0608	L	0.51422	1.61	0.45762	D	0.998652	D	0.53619	0.961	P	0.44597	0.454	T	0.02126	-1.1209	10	0.45353	T	0.12	-38.2324	9.1794	0.37131	0.0:0.7743:0.1432:0.0825	.	675	Q5HYM0	ZC12B_HUMAN	L	686;675;622	ENSP00000340839:P686L;ENSP00000408077:P675L	ENSP00000218172:P622L	P	+	2	0	ZC3H12B	64639360	1.000000	0.71417	0.927000	0.36925	0.949000	0.60115	4.544000	0.60691	1.197000	0.43143	0.506000	0.49869	CCT	ZC3H12B	-	NULL		0.587	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12B	HGNC	protein_coding	OTTHUMT00000378734.2	C	XM_293334		64722635	+1	no_errors	ENST00000338957	ensembl	human	known	70_37	missense	SNP	0.569	T
ZFP64	55734	genome.wustl.edu	37	20	50776785	50776785	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr20:50776785C>T	ENST00000216923.4	-	5	989	c.640G>A	c.(640-642)Gac>Aac	p.D214N	ZFP64_ENST00000371518.2_Missense_Mutation_p.D214N|ZFP64_ENST00000371515.4_Missense_Mutation_p.D212N|ZFP64_ENST00000346617.4_Missense_Mutation_p.D160N|ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000361387.2_Missense_Mutation_p.D214N	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGCTGCTGTCGGCAGCGGCG	0.592																																																	0													136.0	131.0	133.0					20																	50776785		2203	4300	6503	SO:0001583	missense	55734			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.640G>A	20.37:g.50776785C>T	ENSP00000216923:p.Asp214Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NTS7|Q9NVH4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D214N	ENST00000216923.4	37	c.640	CCDS13440.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.437114	0.96168	.	.	ENSG00000020256	ENST00000371518;ENST00000361387;ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2	5.93	5.93	0.95920	Zinc finger, C2H2-like (2);Zinc finger, C2H2 (4);Zinc finger, C2H2-type/integrase, DNA-binding (2);	0.000000	0.64402	D	0.000011	T	0.14917	0.0360	N	0.11845	0.185	0.58432	D	0.999997	D;D;D;D	0.76494	0.999;0.993;0.993;0.993	D;P;P;P	0.67231	0.95;0.719;0.719;0.632	T	0.33343	-0.9872	10	0.25751	T	0.34	-25.9262	20.3539	0.98825	0.0:1.0:0.0:0.0	.	160;212;214;214	Q9NPA5-2;Q5JWM1;Q9NPA5;Q9NTW7	.;.;ZF64A_HUMAN;ZF64B_HUMAN	N	214;214;214;160;212;56;367	ENSP00000360573:D214N;ENSP00000355179:D214N;ENSP00000216923:D214N;ENSP00000344615:D160N;ENSP00000360570:D212N	ENSP00000216923:D214N	D	-	1	0	ZFP64	50210192	1.000000	0.71417	0.972000	0.41901	0.833000	0.47200	6.003000	0.70701	2.826000	0.97356	0.655000	0.94253	GAC	ZFP64	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.592	ZFP64-003	KNOWN	basic|CCDS	protein_coding	ZFP64	HGNC	protein_coding	OTTHUMT00000079744.1	C	NM_018197		50776785	-1	no_errors	ENST00000216923	ensembl	human	known	70_37	missense	SNP	0.998	T
ZNF271	10778	genome.wustl.edu	37	18	32887449	32887449	+	RNA	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr18:32887449C>T	ENST00000399070.3	+	0	1843					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(9)	12						GGAAGGCTTTCAGTCAGTGCT	0.458																																																	0													87.0	79.0	81.0					18																	32887449		2203	4300	6503			10778			X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32887449C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	SNP	-	NULL	ENST00000399070.3	37	NULL		18																																																																																			ZNF271	-	-		0.458	ZNF271-002	KNOWN	basic	processed_transcript	ZNF271	HGNC	pseudogene	OTTHUMT00000255767.2	C	NR_024565		32887449	+1	no_errors	ENST00000399070	ensembl	human	known	70_37	rna	SNP	0.915	T
ZNF271	10778	genome.wustl.edu	37	18	32887460	32887460	+	RNA	SNP	C	C	T			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr18:32887460C>T	ENST00000399070.3	+	0	1854					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(9)	12						AGTCAGTGCTCAGCTCTTACC	0.448																																																	0													88.0	80.0	83.0					18																	32887460		2203	4300	6503			10778			X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32887460C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	SNP	-	NULL	ENST00000399070.3	37	NULL		18																																																																																			ZNF271	-	-		0.448	ZNF271-002	KNOWN	basic	processed_transcript	ZNF271	HGNC	pseudogene	OTTHUMT00000255767.2	C	NR_024565		32887460	+1	no_errors	ENST00000399070	ensembl	human	known	70_37	rna	SNP	0.001	T
ZNF271	10778	genome.wustl.edu	37	18	32887561	32887561	+	RNA	SNP	C	C	G	rs375427993		TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr18:32887561C>G	ENST00000399070.3	+	0	1955					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(9)	12						CATTAACCATCAAAAAATACA	0.433																																																	0													95.0	88.0	90.0					18																	32887561		2203	4300	6503			10778			X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32887561C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	SNP	-	NULL	ENST00000399070.3	37	NULL		18																																																																																			ZNF271	-	-		0.433	ZNF271-002	KNOWN	basic	processed_transcript	ZNF271	HGNC	pseudogene	OTTHUMT00000255767.2	C	NR_024565		32887561	+1	no_errors	ENST00000399070	ensembl	human	known	70_37	rna	SNP	0.776	G
ZNF445	353274	genome.wustl.edu	37	3	44490124	44490124	+	Missense_Mutation	SNP	C	C	T	rs370406740		TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr3:44490124C>T	ENST00000396077.2	-	8	1386	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	ZNF445_ENST00000425708.2_Missense_Mutation_p.E347K	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	347					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CCAATTCCCTCAGAAACACTT	0.403																																																	0													82.0	83.0	83.0					3																	44490124		2203	4300	6503	SO:0001583	missense	353274			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.1039G>A	3.37:g.44490124C>T	ENSP00000379387:p.Glu347Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MJD1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E347K	ENST00000396077.2	37	c.1039	CCDS2713.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.120622	0.94385	.	.	ENSG00000185219	ENST00000425708;ENST00000396077;ENST00000340674	T;T	0.05925	3.37;3.37	4.21	3.32	0.38043	.	0.389262	0.22144	N	0.064011	T	0.03011	0.0089	N	0.14661	0.345	0.35816	D	0.824223	P;P	0.37015	0.578;0.578	B;B	0.28709	0.093;0.093	T	0.53711	-0.8400	10	0.21540	T	0.41	.	8.4726	0.32995	0.0:0.8928:0.0:0.1072	.	335;347	B7ZKX2;P59923	.;ZN445_HUMAN	K	347;347;340	ENSP00000413073:E347K;ENSP00000379387:E347K	ENSP00000342436:E340K	E	-	1	0	ZNF445	44465128	0.000000	0.05858	0.981000	0.43875	0.831000	0.47069	0.304000	0.19228	1.336000	0.45506	0.591000	0.81541	GAG	ZNF445	-	NULL		0.403	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF445	HGNC	protein_coding	OTTHUMT00000256647.2	C	NM_181489		44490124	-1	no_errors	ENST00000396077	ensembl	human	known	70_37	missense	SNP	0.995	T
ZNF573	126231	genome.wustl.edu	37	19	38229932	38229932	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr19:38229932G>C	ENST00000590414.2	-	4	1480	c.1459C>G	c.(1459-1461)Caa>Gaa	p.Q487E	ZNF573_ENST00000357309.3_Missense_Mutation_p.Q399E|ZNF573_ENST00000339503.4_Missense_Mutation_p.Q429E|ZNF573_ENST00000536220.1_Missense_Mutation_p.Q399E|ZNF573_ENST00000392138.1_Missense_Mutation_p.Q400E			Q86YE8	ZN573_HUMAN	zinc finger protein 573	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTCCGATGTTGAATAAGGTTT	0.368																																																	0													85.0	83.0	84.0					19																	38229932		2203	4300	6503	SO:0001583	missense	126231			AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.1459C>G	19.37:g.38229932G>C	ENSP00000465020:p.Gln487Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q487E	ENST00000590414.2	37	c.1459	CCDS59381.1	19	.	.	.	.	.	.	.	.	.	.	-	0	-2.608216	0.00121	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	T;T;T;T	0.16324	2.35;2.35;2.35;2.35	2.19	0.949	0.19566	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10637	0.0260	L	0.28344	0.845	0.09310	N	1	B;B;B;B	0.33198	0.349;0.349;0.401;0.349	B;B;B;B	0.38562	0.138;0.138;0.276;0.181	T	0.26258	-1.0108	9	0.02654	T	1	.	8.0038	0.30313	0.0:0.0:0.6123:0.3877	.	400;429;467;399	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	E	400;399;399;429;399	ENSP00000375983:Q400E;ENSP00000440464:Q399E;ENSP00000349861:Q399E;ENSP00000340171:Q429E	ENSP00000340171:Q429E	Q	-	1	0	ZNF573	42921772	0.000000	0.05858	0.419000	0.26584	0.571000	0.35966	-0.313000	0.08103	1.045000	0.40225	0.585000	0.79938	CAA	ZNF573	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF573	HGNC	protein_coding	OTTHUMT00000459773.2	G	NM_152360		38229932	-1	no_errors	ENST00000590414	ensembl	human	known	70_37	missense	SNP	0.001	C
ZNF668	79759	genome.wustl.edu	37	16	31073360	31073360	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr16:31073360G>A	ENST00000538906.1	-	3	1673	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	ZNF668_ENST00000417110.2_Missense_Mutation_p.R183Q|ZNF668_ENST00000426488.2_Missense_Mutation_p.R320C|ZNF668_ENST00000300849.4_Missense_Mutation_p.R297C|ZNF668_ENST00000394983.2_Missense_Mutation_p.R297C|ZNF668_ENST00000539836.3_Missense_Mutation_p.R320C|ZNF668_ENST00000535577.1_Missense_Mutation_p.R297C|ZNF668_ENST00000564456.1_5'Flank	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	297					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CGCTGGTGGCGACGGAAGCTC	0.682																																					Colon(181;1111 1980 5060 10512 25785)												0													35.0	34.0	34.0					16																	31073360		2197	4296	6493	SO:0001583	missense	79759				CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.889C>T	16.37:g.31073360G>A	ENSP00000440149:p.Arg297Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R320C	ENST00000538906.1	37	c.958	CCDS10701.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.46|18.46	3.628461|3.628461	0.67015|0.67015	.|.	.|.	ENSG00000167394|ENSG00000232748	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849|ENST00000417110	T;T;T;T;T|.	0.26660|.	1.72;1.72;1.72;1.72;1.72|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.78572|0.78572	0.4304|0.4304	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.71184|.	0.972|.	T|T	0.80804|0.80804	-0.1219|-0.1219	10|7	0.52906|0.87932	T|D	0.07|0	-37.1936|-37.1936	18.4963|18.4963	0.90866|0.90866	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	297|.	Q96K58|.	ZN668_HUMAN|.	C|Q	320;297;297;297;297|183	ENSP00000442573:R320C;ENSP00000441349:R297C;ENSP00000440149:R297C;ENSP00000378434:R297C;ENSP00000300849:R297C|.	ENSP00000300849:R297C|ENSP00000391989:R183Q	R|R	-|+	1|2	0|0	ZNF668|AC135050.1	30980861|30980861	0.382000|0.382000	0.25148|0.25148	1.000000|1.000000	0.80357|0.80357	0.117000|0.117000	0.20001|0.20001	2.375000|2.375000	0.44283|0.44283	2.642000|2.642000	0.89623|0.89623	0.655000|0.655000	0.94253|0.94253	CGC|CGA	ZNF668	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.682	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF668	HGNC	protein_coding	OTTHUMT00000108516.2	G	NM_024706		31073360	-1	no_errors	ENST00000426488	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF671	79891	genome.wustl.edu	37	19	58233778	58233778	+	Silent	SNP	G	G	A			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr19:58233778G>A	ENST00000317398.6	-	3	389	c.294C>T	c.(292-294)gtC>gtT	p.V98V	ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000596939.1_Missense_Mutation_p.S56L|ZNF671_ENST00000335820.3_5'UTR|AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	98	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTAGTTTCATGACTGCACGTG	0.522																																																	0													176.0	173.0	174.0					19																	58233778		2203	4300	6503	SO:0001819	synonymous_variant	79891				CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.294C>T	19.37:g.58233778G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NF07|Q9H5E9	Missense_Mutation	SNP	NULL	p.S56L	ENST00000317398.6	37	c.167	CCDS12961.1	19																																																																																			ZNF671	-	NULL		0.522	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF671	HGNC	protein_coding	OTTHUMT00000466817.1	G	NM_024833		58233778	-1	no_errors	ENST00000601584	ensembl	human	known	70_37	missense	SNP	0.000	A
ZNF92	168374	genome.wustl.edu	37	7	64864655	64864655	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A1BI-01B-11D-A13W-08	TCGA-C5-A1BI-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57a1e38f-6b77-40ae-91f0-9f950e57fe03	c8af942e-74f7-4d67-975b-0b14f9ab768b	g.chr7:64864655A>G	ENST00000328747.7	+	4	1827	c.1628A>G	c.(1627-1629)gAc>gGc	p.D543G	ZNF92_ENST00000357512.2_Missense_Mutation_p.D511G|ZNF92_ENST00000450302.2_Missense_Mutation_p.D474G|ZNF92_ENST00000431504.1_Missense_Mutation_p.D467G	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	543					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D543G(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				GAAGAATGTGACAAAGCCTTT	0.363																																																	1	Substitution - Missense(1)	stomach(1)																																								SO:0001583	missense	168374			M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"""Zinc fingers, C2H2-type"", ""-"""	13168	protein-coding gene	gene with protein product		603974	"""zinc finger protein 92 (HTF12)"""			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.1628A>G	7.37:g.64864655A>G	ENSP00000332595:p.Asp543Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNF9|Q8N492|Q8NB35	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D543G	ENST00000328747.7	37	c.1628	CCDS34646.1	7	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.761267	0.00657	.	.	ENSG00000146757	ENST00000328747;ENST00000431504;ENST00000357512;ENST00000450302	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	0.418	0.418	0.16429	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02230	0.0069	N	0.01048	-1.04	0.25099	N	0.990796	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.004	T	0.45249	-0.9274	9	0.02654	T	1	.	2.6244	0.04925	0.6066:0.0:0.3934:0.0	.	511;543	Q03936-3;Q03936	.;ZNF92_HUMAN	G	543;467;511;474	ENSP00000332595:D543G;ENSP00000400495:D467G;ENSP00000350113:D511G;ENSP00000396126:D474G	ENSP00000332595:D543G	D	+	2	0	ZNF92	64502090	0.993000	0.37304	0.170000	0.22879	0.169000	0.22640	0.348000	0.20031	0.383000	0.24910	0.377000	0.23210	GAC	ZNF92	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.363	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF92	HGNC	protein_coding	OTTHUMT00000344589.2	A	NM_152626		64864655	+1	no_errors	ENST00000328747	ensembl	human	known	70_37	missense	SNP	1.000	G
