#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_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABAT	18	genome.wustl.edu	37	16	8829606	8829606	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr16:8829606A>G	ENST00000396600.2	+	2	948	c.10A>G	c.(10-12)Atg>Gtg	p.M4V	ABAT_ENST00000425191.2_Missense_Mutation_p.M4V|ABAT_ENST00000567812.1_Missense_Mutation_p.M19V|ABAT_ENST00000268251.8_Missense_Mutation_p.M4V|ABAT_ENST00000569156.1_Missense_Mutation_p.M4V	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	4					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CATGGCCTCCATGTTGCTCGC	0.592																																						dbGAP											0													38.0	29.0	32.0					16																	8829606		2197	4300	6497	-	-	-	SO:0001583	missense	0			L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.10A>G	16.37:g.8829606A>G	ENSP00000379845:p.Met4Val		A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Missense_Mutation	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4NH2But_aminotransferase_euk	p.M4V	ENST00000396600.2	37	c.10	CCDS10534.1	16	.	.	.	.	.	.	.	.	.	.	A	0.073	-1.197476	0.01594	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	T;T;T	0.80909	-1.43;-1.43;-1.43	4.1	-1.49	0.08718	.	0.314257	0.35615	N	0.003093	T	0.58708	0.2141	N	0.16478	0.41	0.21355	N	0.999719	B	0.02656	0.0	B	0.01281	0.0	T	0.40794	-0.9544	10	0.23302	T	0.38	-2.3346	6.5164	0.22250	0.3777:0.4619:0.0:0.1605	.	4	P80404	GABT_HUMAN	V	4	ENSP00000268251:M4V;ENSP00000379845:M4V;ENSP00000411916:M4V	ENSP00000268251:M4V	M	+	1	0	ABAT	8737107	0.988000	0.35896	0.830000	0.32933	0.307000	0.27823	0.447000	0.21710	-0.391000	0.07763	-0.320000	0.08662	ATG	ABAT	-	NULL	ENSG00000183044		0.592	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ABAT	HGNC	protein_coding	OTTHUMT00000433620.2	16	0.00	0	A	NM_020686		8829606	8829606	+1	no_errors	ENST00000268251	ensembl	human	known	69_37n	missense	2	77.78	7	SNP	0.968	G
ABCA13	154664	genome.wustl.edu	37	7	48284232	48284232	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr7:48284232T>C	ENST00000435803.1	+	11	1346	c.1322T>C	c.(1321-1323)cTg>cCg	p.L441P		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	441					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGGCCGGCACTGAAGAGATTT	0.408																																						dbGAP											0													74.0	74.0	74.0					7																	48284232		1845	4093	5938	-	-	-	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1322T>C	7.37:g.48284232T>C	ENSP00000411096:p.Leu441Pro		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L441P	ENST00000435803.1	37	c.1322	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	T	13.25	2.182301	0.38511	.	.	ENSG00000179869	ENST00000435803	D	0.90844	-2.74	5.06	2.65	0.31530	.	0.819539	0.10253	N	0.696881	T	0.81842	0.4908	N	0.19112	0.55	0.09310	N	0.999999	B	0.21309	0.054	B	0.18263	0.021	T	0.70583	-0.4832	10	0.87932	D	0	.	4.3776	0.11277	0.1732:0.0945:0.0:0.7322	.	441	Q86UQ4	ABCAD_HUMAN	P	441	ENSP00000411096:L441P	ENSP00000411096:L441P	L	+	2	0	ABCA13	48254778	0.808000	0.29022	0.002000	0.10522	0.818000	0.46254	0.900000	0.28431	0.259000	0.21709	0.533000	0.62120	CTG	ABCA13	-	NULL	ENSG00000179869		0.408	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	109	0.00	0	T	NM_152701		48284232	48284232	+1	no_errors	ENST00000435803	ensembl	human	known	69_37n	missense	86	29.51	36	SNP	0.025	C
AGL	178	genome.wustl.edu	37	1	100376361	100376361	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr1:100376361delA	ENST00000294724.4	+	28	4272	c.3794delA	c.(3793-3795)gaafs	p.E1265fs	AGL_ENST00000370165.3_Frame_Shift_Del_p.E1265fs|AGL_ENST00000370161.2_Frame_Shift_Del_p.E1249fs|AGL_ENST00000361522.4_Frame_Shift_Del_p.E1248fs|AGL_ENST00000361302.3_Frame_Shift_Del_p.E1249fs|AGL_ENST00000361915.3_Frame_Shift_Del_p.E1265fs|AGL_ENST00000370163.3_Frame_Shift_Del_p.E1265fs	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1265					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AAAATGGGAGAAAGTGACAGA	0.363																																						dbGAP											0													115.0	108.0	110.0					1																	100376361		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.3794delA	1.37:g.100376361delA	ENSP00000294724:p.Glu1265fs		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Frame_Shift_Del	DEL	pfam_GDE_C,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met	p.S1266fs	ENST00000294724.4	37	c.3794	CCDS759.1	1																																																																																			AGL	-	pfam_GDE_C,superfamily_6-hairpin_glycosidase-like,tigrfam_Glycogen_debranch_met	ENSG00000162688		0.363	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGL	HGNC	protein_coding	OTTHUMT00000029778.1	79	0.00	0	A	NM_000028		100376361	100376361	+1	no_errors	ENST00000294724	ensembl	human	known	69_37n	frame_shift_del	117	44.80	99	DEL	1.000	-
AGMAT	79814	genome.wustl.edu	37	1	15905362	15905362	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr1:15905362G>A	ENST00000375826.3	-	4	854	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	238					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTGGCTCCGGTTGTATCTG	0.602																																					NSCLC(126;1678 1780 25805 43508 49531)	dbGAP											0													56.0	56.0	56.0					1																	15905362		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.712C>T	1.37:g.15905362G>A	ENSP00000364986:p.Arg238Trp		Q5TDH1|Q9H5J3	Missense_Mutation	SNP	pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Agmatinase-rel	p.R238W	ENST00000375826.3	37	c.712	CCDS160.1	1	.	.	.	.	.	.	.	.	.	.	g	15.36	2.809041	0.50421	.	.	ENSG00000116771	ENST00000375826	D	0.85556	-2.0	5.87	-4.26	0.03755	Ureohydrolase domain (1);	0.165492	0.52532	N	0.000069	T	0.81206	0.4774	M	0.86097	2.795	0.34731	D	0.729774	B	0.30709	0.291	B	0.24541	0.054	T	0.71906	-0.4451	10	0.66056	D	0.02	-13.138	8.7254	0.34467	0.1813:0.0:0.1671:0.6515	.	238	Q9BSE5	SPEB_HUMAN	W	238	ENSP00000364986:R238W	ENSP00000364986:R238W	R	-	1	2	AGMAT	15777949	1.000000	0.71417	0.328000	0.25416	0.952000	0.60782	0.673000	0.25203	-0.716000	0.04962	-0.825000	0.03093	CGG	AGMAT	-	pfam_Ureohydrolase,tigrfam_Agmatinase-rel	ENSG00000116771		0.602	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGMAT	HGNC	protein_coding	OTTHUMT00000006763.1	58	0.00	0	G	NM_024758		15905362	15905362	-1	no_errors	ENST00000375826	ensembl	human	known	69_37n	missense	12	40.00	8	SNP	0.767	A
ALG11	440138	genome.wustl.edu	37	13	52586563	52586563	+	Silent	SNP	C	C	T			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr13:52586563C>T	ENST00000521508.1	+	1	14	c.9C>T	c.(7-9)gcC>gcT	p.A3A	ATP7B_ENST00000448424.2_5'Flank|ATP7B_ENST00000344297.5_5'Flank|ALG11_ENST00000523764.1_Silent_p.A3A|ATP7B_ENST00000242839.4_5'Flank|ATP7B_ENST00000400370.3_5'Flank|ATP7B_ENST00000400366.3_5'Flank|ATP7B_ENST00000418097.2_5'Flank	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	3					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)			endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		AGATGGCGGCCGGCGAAAGGA	0.607																																						dbGAP											0													72.0	71.0	72.0					13																	52586563		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"""Glycosyltransferase group 1 domain containing"""	32456	protein-coding gene	gene with protein product	"""GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"""	613666	"""asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"""			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.9C>T	13.37:g.52586563C>T			A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Silent	SNP	pfam_Glyco_trans_1	p.A3	ENST00000521508.1	37	c.9	CCDS31977.1	13																																																																																			ALG11	-	NULL	ENSG00000253710		0.607	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG11	HGNC	protein_coding	OTTHUMT00000045050.1	22	0.00	0	C	NM_001004127		52586563	52586563	+1	no_errors	ENST00000521508	ensembl	human	known	69_37n	silent	16	40.74	11	SNP	0.000	T
CARM1	10498	genome.wustl.edu	37	19	11024609	11024609	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr19:11024609delG	ENST00000327064.4	+	6	916	c.726delG	c.(724-726)gtgfs	p.V242fs	CARM1_ENST00000344150.4_Frame_Shift_Del_p.V242fs	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	242	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						CGGGCAAGGTGGAGGAGGTGT	0.617																																						dbGAP											0													121.0	93.0	103.0					19																	11024609		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.726delG	19.37:g.11024609delG	ENSP00000325690:p.Val242fs		A6NN38	Frame_Shift_Del	DEL	pfam_Histone-Arg_MeTrfase_N,pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_mo5U34_MeTrfase,pfam_Methyltransf_11	p.E243fs	ENST00000327064.4	37	c.726	CCDS12250.1	19																																																																																			CARM1	-	pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_mo5U34_MeTrfase,pfam_Methyltransf_11	ENSG00000142453		0.617	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CARM1	HGNC	protein_coding	OTTHUMT00000452625.1	26	0.00	0	G	XM_032719		11024609	11024609	+1	no_errors	ENST00000327064	ensembl	human	known	69_37n	frame_shift_del	5	28.57	2	DEL	1.000	-
ARHGAP35	2909	genome.wustl.edu	37	19	47424158	47424158	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr19:47424158C>G	ENST00000404338.3	+	1	2226	c.2226C>G	c.(2224-2226)taC>taG	p.Y742*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	742					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GCATTGGTTACGGACGCAACA	0.443																																						dbGAP											0													80.0	77.0	78.0					19																	47424158		1972	4165	6137	-	-	-	SO:0001587	stop_gained	0			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2226C>G	19.37:g.47424158C>G	ENSP00000385720:p.Tyr742*		A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.Y742*	ENST00000404338.3	37	c.2226	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	C	37	5.999895	0.97189	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	.	.	.	5.49	-4.69	0.03299	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.3447	14.5221	0.67856	0.0:0.5418:0.0:0.4582	.	.	.	.	X	742	.	ENSP00000324820:Y742X	Y	+	3	2	ARHGAP35	52115998	0.000000	0.05858	0.860000	0.33809	0.914000	0.54420	-2.033000	0.01425	-1.017000	0.03367	-0.982000	0.02568	TAC	ARHGAP35	-	NULL	ENSG00000160007		0.443	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	64	0.00	0	C	NM_004491		47424158	47424158	+1	no_errors	ENST00000404338	ensembl	human	known	69_37n	nonsense	51	34.62	27	SNP	0.932	G
CHRNA7	1139	genome.wustl.edu	37	15	32460485	32460485	+	Silent	SNP	C	C	T	rs200301018		TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr15:32460485C>T	ENST00000306901.3	+	10	1432	c.1335C>T	c.(1333-1335)aaC>aaT	p.N445N	CHRNA7_ENST00000454250.3_Silent_p.N474N|CHRNA7_ENST00000455693.2_Silent_p.N264N	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	445					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	ACATTGCCAACCGCTTCCGCT	0.667																																					Esophageal Squamous(193;529 2900 40232 43193)	dbGAP											0													1.0	2.0	2.0					15																	32460485		1021	2461	3482	-	-	-	SO:0001819	synonymous_variant	0			Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1960	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 7 (neuronal)"""	118511	"""cholinergic receptor, nicotinic, alpha polypeptide 7"""			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.1335C>T	15.37:g.32460485C>T			A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.N474	ENST00000306901.3	37	c.1422	CCDS10027.1	15																																																																																			CHRNA7	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000175344		0.667	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHRNA7	HGNC	protein_coding	OTTHUMT00000251410.2	8	0.00	0	C			32460485	32460485	+1	no_errors	ENST00000454250	ensembl	human	known	69_37n	silent	3	50.00	3	SNP	1.000	T
COLEC12	81035	genome.wustl.edu	37	18	334817	334818	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr18:334817_334818insG	ENST00000400256.3	-	6	1947_1948	c.1740_1741insC	c.(1738-1743)cccggcfs	p.G581fs		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	581	Collagen-like 3.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CCAGGAGGGCCGGGGGGGCCCT	0.698																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1741dupC	18.37:g.334824_334824dupG	ENSP00000383115:p.Gly581fs		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Frame_Shift_Ins	INS	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.G580fs	ENST00000400256.3	37	c.1741_1740	CCDS32782.1	18																																																																																			COLEC12	-	pfam_Collagen	ENSG00000158270		0.698	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC12	HGNC	protein_coding	OTTHUMT00000440746.1	28	0.00	0	-			334817	334818	-1	no_errors	ENST00000400256	ensembl	human	known	69_37n	frame_shift_ins	9	18.18	2	INS	0.997:0.111	G
DNMT1	1786	genome.wustl.edu	37	19	10249146	10249146	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr19:10249146C>G	ENST00000340748.4	-	34	4271	c.4036G>C	c.(4036-4038)Gat>Cat	p.D1346H	DNMT1_ENST00000359526.4_Missense_Mutation_p.D1362H|DNMT1_ENST00000589538.1_5'Flank|DNMT1_ENST00000540357.1_Missense_Mutation_p.D1346H			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1346	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TTCTTGTCATCCACCACCACG	0.637																																						dbGAP											0													88.0	77.0	81.0					19																	10249146		2203	4300	6503	-	-	-	SO:0001583	missense	0			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.4036G>C	19.37:g.10249146C>G	ENSP00000345739:p.Asp1346His		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC	p.D1362H	ENST00000340748.4	37	c.4084	CCDS12228.1	19	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962725	0.92791	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	D;D;D	0.84298	-1.83;-1.83;-1.83	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.92727	0.7688	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.987;0.987;0.992	D	0.93261	0.6643	10	0.72032	D	0.01	.	18.2551	0.90017	0.0:1.0:0.0:0.0	.	1346;1362;1346	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	H	1362;1346;1346;1214	ENSP00000352516:D1362H;ENSP00000440457:D1346H;ENSP00000345739:D1346H	ENSP00000345739:D1346H	D	-	1	0	DNMT1	10110146	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.460000	0.80816	2.607000	0.88179	0.655000	0.94253	GAT	DNMT1	-	pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase	ENSG00000130816		0.637	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	HGNC	protein_coding	OTTHUMT00000451166.1	63	0.00	0	C	NM_001379		10249146	10249146	-1	no_errors	ENST00000359526	ensembl	human	known	69_37n	missense	25	13.79	4	SNP	1.000	G
DPY19L3	147991	genome.wustl.edu	37	19	32949349	32949349	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr19:32949349A>G	ENST00000342179.5	+	12	1471	c.1256A>G	c.(1255-1257)tAt>tGt	p.Y419C	DPY19L3_ENST00000392250.2_Missense_Mutation_p.Y419C|DPY19L3_ENST00000586987.1_Missense_Mutation_p.Y419C	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	419						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)					CTGCTTTTTTATGCTTACATA	0.378																																						dbGAP											0													186.0	184.0	185.0					19																	32949349		2203	4300	6503	-	-	-	SO:0001583	missense	0				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.1256A>G	19.37:g.32949349A>G	ENSP00000344937:p.Tyr419Cys		Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	pfam_Dpy-19	p.Y419C	ENST00000342179.5	37	c.1256	CCDS12422.1	19	.	.	.	.	.	.	.	.	.	.	A	16.99	3.275343	0.59649	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.54866	0.55;0.55	6.04	6.04	0.98038	.	0.392641	0.29314	N	0.012510	T	0.69251	0.3090	M	0.65975	2.015	0.46774	D	0.999199	D	0.69078	0.997	P	0.62649	0.905	T	0.69602	-0.5101	10	0.48119	T	0.1	-2.5139	16.6244	0.84952	1.0:0.0:0.0:0.0	.	419	Q6ZPD9	D19L3_HUMAN	C	419	ENSP00000376081:Y419C;ENSP00000344937:Y419C	ENSP00000315672:Y419C	Y	+	2	0	DPY19L3	37641189	1.000000	0.71417	0.897000	0.35233	0.744000	0.42396	6.022000	0.70839	2.323000	0.78572	0.529000	0.55759	TAT	DPY19L3	-	pfam_Dpy-19	ENSG00000178904		0.378	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L3	HGNC	protein_coding	OTTHUMT00000450311.1	134	0.00	0	A	NM_207325		32949349	32949349	+1	no_errors	ENST00000342179	ensembl	human	known	69_37n	missense	119	15.60	22	SNP	1.000	G
AGO1	26523	genome.wustl.edu	37	1	36358236	36358236	+	Silent	SNP	G	G	A			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr1:36358236G>A	ENST00000373204.4	+	3	501	c.288G>A	c.(286-288)aaG>aaA	p.K96K	AGO1_ENST00000373206.1_Silent_p.K21K	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	96					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										ATGGAAAGAAGAACATTTACA	0.522																																						dbGAP											0													132.0	112.0	119.0					1																	36358236		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.288G>A	1.37:g.36358236G>A			Q5TA57|Q6P4S0	Silent	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.K96	ENST00000373204.4	37	c.288	CCDS398.1	1																																																																																			EIF2C1	-	superfamily_PAZ	ENSG00000092847		0.522	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C1	HGNC	protein_coding	OTTHUMT00000019337.3	155	0.00	0	G			36358236	36358236	+1	no_errors	ENST00000373204	ensembl	human	known	69_37n	silent	101	51.44	107	SNP	1.000	A
FBXO41	150726	genome.wustl.edu	37	2	73491166	73491166	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr2:73491166delC	ENST00000521871.1	-	7	2237	c.1822delG	c.(1822-1824)gctfs	p.A608fs	FBXO41_ENST00000295133.5_Frame_Shift_Del_p.A669fs|FBXO41_ENST00000520530.2_Frame_Shift_Del_p.A608fs			Q8TF61	FBX41_HUMAN	F-box protein 41	608										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						CACCACTGAGCCAGCATTGCC	0.622																																						dbGAP											0													17.0	19.0	18.0					2																	73491166		1975	4180	6155	-	-	-	SO:0001589	frameshift_variant	0			AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"""F-boxes /  ""other"""""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.1822delG	2.37:g.73491166delC	ENSP00000428646:p.Ala608fs		G3V0Z7|Q2M1V8	Frame_Shift_Del	DEL	superfamily_F-box_dom_cyclin-like	p.A669fs	ENST00000521871.1	37	c.2005	CCDS46337.2	2																																																																																			FBXO41	-	superfamily_F-box_dom_cyclin-like	ENSG00000163013		0.622	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FBXO41	HGNC	protein_coding	OTTHUMT00000377381.1	29	0.00	0	C			73491166	73491166	-1	no_errors	ENST00000295133	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	1.000	-
FREM1	158326	genome.wustl.edu	37	9	14868864	14868864	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr9:14868864delG	ENST00000380880.3	-	2	895	c.112delC	c.(112-114)cacfs	p.H38fs	FREM1_ENST00000380881.4_Frame_Shift_Del_p.H38fs|FREM1_ENST00000422223.2_Frame_Shift_Del_p.H38fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	38					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AAGGCAGAGTGGCCCTTCATC	0.572																																						dbGAP											0													42.0	44.0	44.0					9																	14868864		2010	4174	6184	-	-	-	SO:0001589	frameshift_variant	0			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.112delC	9.37:g.14868864delG	ENSP00000370262:p.His38fs		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Frame_Shift_Del	DEL	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.H38fs	ENST00000380880.3	37	c.112	CCDS47952.1	9																																																																																			FREM1	-	NULL	ENSG00000164946		0.572	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	26	0.00	0	G	NM_144966		14868864	14868864	-1	no_errors	ENST00000380881	ensembl	human	known	69_37n	frame_shift_del	18	10.00	2	DEL	1.000	-
GPT2	84706	genome.wustl.edu	37	16	46960909	46960909	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr16:46960909G>A	ENST00000340124.4	+	11	1553	c.1441G>A	c.(1441-1443)Ggc>Agc	p.G481S	GPT2_ENST00000440783.2_Missense_Mutation_p.G381S	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	481					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	TGTCGTGCCCGGCAGTGGCTT	0.557																																						dbGAP											0													114.0	102.0	106.0					16																	46960909		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.1441G>A	16.37:g.46960909G>A	ENSP00000345282:p.Gly481Ser		Q8N9E2	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.G481S	ENST00000340124.4	37	c.1441	CCDS10725.1	16	.	.	.	.	.	.	.	.	.	.	G	35	5.543262	0.96474	.	.	ENSG00000166123	ENST00000340124;ENST00000440783	T;T	0.35973	2.03;1.28	4.94	4.94	0.65067	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.76278	0.3965	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86645	0.1894	10	0.87932	D	0	.	18.5083	0.90905	0.0:0.0:1.0:0.0	.	381;481	Q8TD30-2;Q8TD30	.;ALAT2_HUMAN	S	481;381	ENSP00000345282:G481S;ENSP00000413804:G381S	ENSP00000345282:G481S	G	+	1	0	GPT2	45518410	1.000000	0.71417	0.985000	0.45067	0.932000	0.56968	9.792000	0.99085	2.456000	0.83038	0.655000	0.94253	GGC	GPT2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000166123		0.557	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPT2	HGNC	protein_coding	OTTHUMT00000255741.2	70	0.00	0	G			46960909	46960909	+1	no_errors	ENST00000340124	ensembl	human	known	69_37n	missense	43	34.85	23	SNP	1.000	A
HPS6	79803	genome.wustl.edu	37	10	103826282	103826282	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr10:103826282G>T	ENST00000299238.5	+	1	1136	c.1051G>T	c.(1051-1053)Gac>Tac	p.D351Y		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	351					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CCTAAGTACAGACAGGGTACA	0.582									Hermansky-Pudlak syndrome																													dbGAP											0													58.0	60.0	59.0					10																	103826282		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.1051G>T	10.37:g.103826282G>T	ENSP00000299238:p.Asp351Tyr		Q5VV69|Q9H685	Missense_Mutation	SNP	pirsf_BLOC-2_complex_Hps6_subunit	p.D351Y	ENST00000299238.5	37	c.1051	CCDS7527.1	10	.	.	.	.	.	.	.	.	.	.	G	17.06	3.293545	0.60086	.	.	ENSG00000166189	ENST00000299238	T	0.80214	-1.35	5.09	5.09	0.68999	.	0.287190	0.37669	N	0.001984	D	0.86356	0.5913	L	0.60455	1.87	0.40456	D	0.980196	D	0.89917	1.0	D	0.69479	0.964	D	0.87559	0.2470	10	0.87932	D	0	-17.4646	12.4766	0.55819	0.0869:0.0:0.9131:0.0	.	351	Q86YV9	HPS6_HUMAN	Y	351	ENSP00000299238:D351Y	ENSP00000299238:D351Y	D	+	1	0	HPS6	103816272	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.588000	0.53964	2.637000	0.89404	0.561000	0.74099	GAC	HPS6	-	pirsf_BLOC-2_complex_Hps6_subunit	ENSG00000166189		0.582	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS6	HGNC	protein_coding	OTTHUMT00000050018.2	99	0.00	0	G	NM_024747		103826282	103826282	+1	no_errors	ENST00000299238	ensembl	human	known	69_37n	missense	21	19.23	5	SNP	1.000	T
IL23R	149233	genome.wustl.edu	37	1	67648572	67648572	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr1:67648572A>C	ENST00000347310.5	+	4	592	c.421A>C	c.(421-423)Aac>Cac	p.N141H	C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Missense_Mutation_p.N141H	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	141	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						ATATTCAGGCAACATGACTTG	0.423																																						dbGAP											0													155.0	146.0	149.0					1																	67648572		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.421A>C	1.37:g.67648572A>C	ENSP00000321345:p.Asn141His		C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.N141H	ENST00000347310.5	37	c.421	CCDS637.1	1	.	.	.	.	.	.	.	.	.	.	A	12.82	2.053571	0.36277	.	.	ENSG00000162594	ENST00000347310;ENST00000371002;ENST00000540775;ENST00000543799	T;T	0.21734	1.99;1.99	5.24	-0.505	0.11993	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.494865	0.20977	N	0.082297	T	0.08846	0.0219	M	0.72118	2.19	0.80722	D	1	B;B	0.21071	0.023;0.051	B;B	0.19391	0.025;0.025	T	0.06643	-1.0815	10	0.48119	T	0.1	-16.8256	5.0494	0.14501	0.3809:0.3143:0.0:0.3048	.	141;141	Q5VWK5-3;Q5VWK5	.;IL23R_HUMAN	H	141;141;96;96	ENSP00000321345:N141H;ENSP00000360041:N141H	ENSP00000321345:N141H	N	+	1	0	IL23R	67421160	0.993000	0.37304	0.973000	0.42090	0.994000	0.84299	0.213000	0.17521	-0.030000	0.13804	0.460000	0.39030	AAC	IL23R	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000162594		0.423	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL23R	HGNC	protein_coding	OTTHUMT00000025199.2	280	0.00	0	A	NM_144701		67648572	67648572	+1	no_errors	ENST00000347310	ensembl	human	known	69_37n	missense	307	24.94	102	SNP	0.985	C
ITGA2B	3674	genome.wustl.edu	37	17	42463072	42463073	+	Frame_Shift_Ins	INS	-	-	G	rs559891307		TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr17:42463072_42463073insG	ENST00000262407.5	-	4	451_452	c.420_421insC	c.(418-423)ccctggfs	p.W141fs	ITGA2B_ENST00000377068.3_5'Flank|ITGA2B_ENST00000353281.4_Frame_Shift_Ins_p.W141fs	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	141					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	CAGTGCTGCCAGGGGGCGCAGG	0.658																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.421dupC	17.37:g.42463077_42463077dupG	ENSP00000262407:p.Trp141fs		B2RCY8|O95366|Q14443|Q17R67	Frame_Shift_Ins	INS	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.W140fs	ENST00000262407.5	37	c.421_420	CCDS32665.1	17																																																																																			ITGA2B	-	NULL	ENSG00000005961		0.658	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2B	HGNC	protein_coding	OTTHUMT00000439823.1	19	0.00	0	-			42463072	42463073	-1	no_errors	ENST00000262407	ensembl	human	known	69_37n	frame_shift_ins	8	20.00	2	INS	0.998:0.998	G
KCNA1	3736	genome.wustl.edu	37	12	5021358	5021358	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr12:5021358G>A	ENST00000382545.3	+	2	1921	c.814G>A	c.(814-816)Gag>Aag	p.E272K	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	272					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	GCTGGGCACCGAGATAGCTGA	0.517																																						dbGAP											0													71.0	73.0	73.0					12																	5021358		2203	4300	6503	-	-	-	SO:0001583	missense	0			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.814G>A	12.37:g.5021358G>A	ENSP00000371985:p.Glu272Lys		A6NM83|Q3MIQ9	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3	p.E272K	ENST00000382545.3	37	c.814	CCDS8535.1	12	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250414	0.59212	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.98345	-4.88	4.97	4.97	0.65823	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97173	0.9076	M	0.71036	2.16	0.80722	D	1	B	0.25609	0.13	B	0.19666	0.026	D	0.95768	0.8806	10	0.48119	T	0.1	.	17.7728	0.88497	0.0:0.0:1.0:0.0	.	272	Q09470	KCNA1_HUMAN	K	272	ENSP00000371985:E272K	ENSP00000228858:E272K	E	+	1	0	KCNA1	4891619	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.531000	0.98054	2.735000	0.93741	0.655000	0.94253	GAG	KCNA1	-	pfam_Ion_trans_dom	ENSG00000111262		0.517	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA1	HGNC	protein_coding	OTTHUMT00000103343.2	119	0.00	0	G	NM_000217		5021358	5021358	+1	no_errors	ENST00000382545	ensembl	human	known	69_37n	missense	65	31.25	30	SNP	1.000	A
KIAA0930	23313	genome.wustl.edu	37	22	45601729	45601732	+	Frame_Shift_Del	DEL	CCCA	CCCA	-	rs139472572		TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	CCCA	CCCA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr22:45601729_45601732delCCCA	ENST00000336156.5	-	3	343_346	c.278_281delTGGG	c.(277-282)ctgggafs	p.LG93fs	KIAA0930_ENST00000443310.3_Frame_Shift_Del_p.LG75fs|KIAA0930_ENST00000391627.2_Frame_Shift_Del_p.LG59fs|KIAA0930_ENST00000251993.7_Frame_Shift_Del_p.LG98fs	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	93								p.L98L(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						GTCAGGGTCTCCCAGGCCTGGCAG	0.647																																						dbGAP											1	Substitution - coding silent(1)	kidney(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.278_281delTGGG	22.37:g.45601729_45601732delCCCA	ENSP00000336720:p.Leu93fs		B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Frame_Shift_Del	DEL	pfam_DUF2045	p.L98fs	ENST00000336156.5	37	c.296_293	CCDS33665.1	22																																																																																			KIAA0930	-	pfam_DUF2045	ENSG00000100364		0.647	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0930	HGNC	protein_coding	OTTHUMT00000321975.2	55	0.00	0	CCCA	NM_001009880		45601729	45601732	-1	no_errors	ENST00000251993	ensembl	human	known	69_37n	frame_shift_del	17	34.62	9	DEL	1.000:1.000:0.988:1.000	-
KIAA0930	23313	genome.wustl.edu	37	22	45601738	45601738	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr22:45601738delG	ENST00000336156.5	-	3	337	c.272delC	c.(271-273)ccafs	p.P91fs	KIAA0930_ENST00000443310.3_Frame_Shift_Del_p.P73fs|KIAA0930_ENST00000391627.2_Frame_Shift_Del_p.P57fs|KIAA0930_ENST00000251993.7_Frame_Shift_Del_p.P96fs	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	91										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TCCCAGGCCTGGCAGCTTCTT	0.647																																						dbGAP											0													58.0	53.0	55.0					22																	45601738		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.272delC	22.37:g.45601738delG	ENSP00000336720:p.Pro91fs		B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Frame_Shift_Del	DEL	pfam_DUF2045	p.P96fs	ENST00000336156.5	37	c.287	CCDS33665.1	22																																																																																			KIAA0930	-	pfam_DUF2045	ENSG00000100364		0.647	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0930	HGNC	protein_coding	OTTHUMT00000321975.2	57	0.00	0	G	NM_001009880		45601738	45601738	-1	no_errors	ENST00000251993	ensembl	human	known	69_37n	frame_shift_del	17	34.62	9	DEL	1.000	-
LPHN1	22859	genome.wustl.edu	37	19	14262349	14262349	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr19:14262349delA	ENST00000340736.6	-	24	4058	c.3761delT	c.(3760-3762)ttgfs	p.L1254fs	CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Frame_Shift_Del_p.L1249fs	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1254					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCACTTCGCAAGGAGTAACT	0.632																																						dbGAP											0													54.0	66.0	62.0					19																	14262349		2156	4255	6411	-	-	-	SO:0001589	frameshift_variant	0			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3761delT	19.37:g.14262349delA	ENSP00000340688:p.Leu1254fs		Q96IE7|Q9BU07|Q9HAR3	Frame_Shift_Del	DEL	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.L1254fs	ENST00000340736.6	37	c.3761	CCDS32928.1	19																																																																																			LPHN1	-	pfam_GPCR_2_latrophilin_rcpt_C	ENSG00000072071		0.632	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	LPHN1	HGNC	protein_coding	OTTHUMT00000459696.1	53	0.00	0	A	NM_014921		14262349	14262349	-1	no_errors	ENST00000340736	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	1.000	-
LRRC8D	55144	genome.wustl.edu	37	1	90400639	90400639	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr1:90400639G>A	ENST00000337338.5	+	3	2419	c.2012G>A	c.(2011-2013)cGc>cAc	p.R671H	LRRC8D_ENST00000394593.3_Missense_Mutation_p.R671H	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	671					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AATAACATTCGCACAATTGAG	0.378																																						dbGAP											0													66.0	67.0	67.0					1																	90400639		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.2012G>A	1.37:g.90400639G>A	ENSP00000338887:p.Arg671His		D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R671H	ENST00000337338.5	37	c.2012	CCDS726.1	1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646434	0.47258	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	T;T	0.57273	0.41;0.41	6.07	6.07	0.98685	.	0.055753	0.64402	D	0.000001	T	0.28863	0.0716	N	0.21583	0.68	0.80722	D	1	P	0.36837	0.571	B	0.34652	0.187	T	0.08146	-1.0736	9	.	.	.	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	671	Q7L1W4	LRC8D_HUMAN	H	671	ENSP00000338887:R671H;ENSP00000378093:R671H	.	R	+	2	0	LRRC8D	90173227	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.062000	0.89475	2.884000	0.98904	0.655000	0.94253	CGC	LRRC8D	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000171492		0.378	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8D	HGNC	protein_coding	OTTHUMT00000029203.2	117	0.00	0	G	NM_018103		90400639	90400639	+1	no_errors	ENST00000337338	ensembl	human	known	69_37n	missense	162	22.86	48	SNP	1.000	A
MAGEC2	51438	genome.wustl.edu	37	X	141291740	141291740	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chrX:141291740C>T	ENST00000247452.3	-	3	381	c.34G>A	c.(34-36)Gtt>Att	p.V12I		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	12				V -> A (in Ref. 5; AAH13318). {ECO:0000305}.	cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCGTTGTCAACGTTGCGGAAT	0.542										HNSCC(46;0.14)																												dbGAP											0													121.0	111.0	115.0					X																	141291740		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.34G>A	X.37:g.141291740C>T	ENSP00000354660:p.Val12Ile		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.V12I	ENST00000247452.3	37	c.34	CCDS14678.1	X	.	.	.	.	.	.	.	.	.	.	-	0.620	-0.821501	0.02755	.	.	ENSG00000046774	ENST00000247452	T	0.02103	4.45	0.896	-1.79	0.07932	.	6.800560	0.00702	U	0.000797	T	0.01189	0.0039	N	0.08118	0	0.09310	N	1	B	0.29378	0.243	B	0.12156	0.007	T	0.42137	-0.9469	9	0.22706	T	0.39	.	.	.	.	.	12	Q9UBF1	MAGC2_HUMAN	I	12	ENSP00000354660:V12I	ENSP00000354660:V12I	V	-	1	0	MAGEC2	141119406	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.557000	0.02166	-1.888000	0.01113	-0.769000	0.03391	GTT	MAGEC2	-	NULL	ENSG00000046774		0.542	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEC2	HGNC	protein_coding	OTTHUMT00000058611.1	439	0.00	0	C	NM_016249		141291740	141291740	-1	no_errors	ENST00000247452	ensembl	human	known	69_37n	missense	451	13.27	69	SNP	0.000	T
MAML3	55534	genome.wustl.edu	37	4	140811230	140811230	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr4:140811230G>A	ENST00000509479.2	-	2	2216	c.1360C>T	c.(1360-1362)Cct>Tct	p.P454S	MAML3_ENST00000398940.1_5'Flank|MAML3_ENST00000327122.5_Missense_Mutation_p.P298S	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					ACAGCCACAGGCCCTGACGCT	0.572																																						dbGAP											0													32.0	33.0	33.0					4																	140811230		2166	4287	6453	-	-	-	SO:0001583	missense	0			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1360C>T	4.37:g.140811230G>A	ENSP00000421180:p.Pro454Ser			Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.P454S	ENST00000509479.2	37	c.1360	CCDS54805.1	4	.	.	.	.	.	.	.	.	.	.	G	10.04	1.242138	0.22796	.	.	ENSG00000196782	ENST00000509479;ENST00000327122	T	0.26223	1.75	5.94	4.21	0.49690	.	0.181162	0.48767	N	0.000171	T	0.14184	0.0343	N	0.16743	0.435	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.09465	-1.0673	10	0.17832	T	0.49	.	9.0826	0.36561	0.222:0.0:0.778:0.0	.	454	Q96JK9	MAML3_HUMAN	S	454;298	ENSP00000421180:P454S	ENSP00000313316:P298S	P	-	1	0	MAML3	141030680	1.000000	0.71417	0.521000	0.27850	0.718000	0.41266	3.496000	0.53288	0.836000	0.34901	0.650000	0.86243	CCT	MAML3	-	NULL	ENSG00000196782		0.572	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	HGNC	protein_coding	OTTHUMT00000364934.2	155	0.00	0	G			140811230	140811230	-1	no_errors	ENST00000509479	ensembl	human	known	69_37n	missense	67	30.61	30	SNP	0.982	A
MAP2K4	6416	genome.wustl.edu	37	17	12028665	12028665	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr17:12028665G>T	ENST00000353533.5	+	8	931	c.868G>T	c.(868-870)Gtc>Ttc	p.V290F	MAP2K4_ENST00000415385.3_Missense_Mutation_p.V301F	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	290	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(3)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CCGCTCTGATGTCTGGAGTTT	0.388			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	dbGAP		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	13	Whole gene deletion(10)|Unknown(3)	breast(4)|ovary(4)|lung(2)|biliary_tract(1)|large_intestine(1)|pancreas(1)											255.0	198.0	218.0					17																	12028665		2203	4300	6503	-	-	-	SO:0001583	missense	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.868G>T	17.37:g.12028665G>T	ENSP00000262445:p.Val290Phe		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	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	p.V301F	ENST00000353533.5	37	c.901	CCDS11162.1	17	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133338	0.56828	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.26067	1.76;1.76	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59211	0.2177	M	0.88377	2.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	T	0.66452	-0.5920	10	0.87932	D	0	.	17.8064	0.88602	0.0:0.0:1.0:0.0	.	162;301;290	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	F	290;301;267;162	ENSP00000262445:V290F;ENSP00000410402:V301F	ENSP00000262445:V290F	V	+	1	0	MAP2K4	11969390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.561000	0.98142	2.814000	0.96858	0.563000	0.77884	GTC	MAP2K4	-	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	ENSG00000065559		0.388	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	135	0.00	0	G			12028665	12028665	+1	no_errors	ENST00000415385	ensembl	human	known	69_37n	missense	92	55.12	113	SNP	1.000	T
MED15	51586	genome.wustl.edu	37	22	20922834	20922835	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr22:20922834_20922835insC	ENST00000263205.7	+	8	1137_1138	c.1068_1069insC	c.(1069-1071)cccfs	p.P357fs	MED15_ENST00000292733.7_Frame_Shift_Ins_p.P357fs|MED15_ENST00000425759.2_Frame_Shift_Ins_p.P246fs|MED15_ENST00000541476.1_Frame_Shift_Ins_p.P331fs|MED15_ENST00000406969.1_Frame_Shift_Ins_p.P331fs|MED15_ENST00000382974.2_Frame_Shift_Ins_p.P286fs|MED15_ENST00000542773.1_Frame_Shift_Ins_p.P162fs|MED15_ENST00000478831.1_3'UTR	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	357	Pro-rich.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TGGTGCAGCAGCCCCCAGTGCA	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1073dupC	22.37:g.20922839_20922839dupC	ENSP00000263205:p.Pro357fs		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Frame_Shift_Ins	INS	pfam_Mediator_Med15_met	p.V358fs	ENST00000263205.7	37	c.1068_1069	CCDS33602.1	22																																																																																			MED15	-	pfam_Mediator_Med15_met	ENSG00000099917		0.619	MED15-004	KNOWN	basic|CCDS	protein_coding	MED15	HGNC	protein_coding	OTTHUMT00000320177.2	11	0.00	0	-	NM_015889		20922834	20922835	+1	no_errors	ENST00000263205	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	1.000:0.995	C
NEB	4703	genome.wustl.edu	37	2	152362016	152362017	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr2:152362016_152362017delCT	ENST00000172853.10	-	137	18761_18762	c.18614_18615delAG	c.(18613-18615)aagfs	p.K6205fs	NEB_ENST00000509223.2_Frame_Shift_Del_p.K36fs|NEB_ENST00000427231.2_Frame_Shift_Del_p.K7906fs|NEB_ENST00000397336.2_5'Flank|NEB_ENST00000604864.1_Frame_Shift_Del_p.K7906fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.K7906fs|NEB_ENST00000498015.2_5'UTR|NEB_ENST00000397345.3_Frame_Shift_Del_p.K7906fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.K6205fs			P20929	NEBU_HUMAN	nebulin	6205					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)		TCTGCGTCTCCTTCACACGTTT	0.455																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			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.18614_18615delAG	2.37:g.152362016_152362017delCT	ENSP00000172853:p.Lys6205fs		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Del	DEL	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,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain	p.K7906fs	ENST00000172853.10	37	c.23718_23717		2																																																																																			NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.455	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		223	0.00	0	CT	NM_004543		152362016	152362017	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	frame_shift_del	221	15.38	42	DEL	1.000:1.000	-
NKAPP1	158801	genome.wustl.edu	37	X	119374159	119374159	+	RNA	SNP	C	C	A			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chrX:119374159C>A	ENST00000592037.1	-	0	4916							Q8N9T2	CX042_HUMAN	NFKB activating protein pseudogene 1																		ATAAATTTTTCTTTCTTCCTT	0.303																																						dbGAP											0																																										-	-	-			0			AK093895		Xq24	2010-07-20	2010-07-20	2010-07-20	ENSG00000233382	ENSG00000233382			26706	pseudogene	pseudogene			"""chromosome X open reading frame 42"""	CXorf42			Standard	NR_027131		Approved	FLJ36576	uc004esm.3	Q8N9T2	OTTHUMG00000022295		X.37:g.119374159C>A			Q05CP2|Q14CJ5|Q7Z3P3	RNA	SNP	-	NULL	ENST00000592037.1	37	NULL		X																																																																																			NKAPP1	-	-	ENSG00000233382		0.303	NKAPP1-006	KNOWN	basic	processed_transcript	NKAPP1	HGNC	pseudogene	OTTHUMT00000460015.1	161	0.00	0	C	NM_173522		119374159	119374159	-1	no_errors	ENST00000452254	ensembl	human	known	69_37n	rna	148	26.24	53	SNP	0.200	A
OR2A7	401427	genome.wustl.edu	37	7	143956296	143956297	+	Frame_Shift_Ins	INS	-	-	T	rs575018357		TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr7:143956296_143956297insT	ENST00000493325.1	-	1	518_519	c.425_426insA	c.(424-426)accfs	p.T142fs	OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000498397.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					TCACCGCGAGGGTGATGCAGAC	0.495																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"""GPCR / Class A : Olfactory receptors"""	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.425_426insA	7.37:g.143956296_143956297insT	ENSP00000420502:p.Thr142fs		B2RN57|Q6IFP4	Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.L143fs	ENST00000493325.1	37	c.426_425	CCDS55177.1	7																																																																																			OR2A7	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000243896		0.495	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A7	HGNC	protein_coding	OTTHUMT00000349979.1	34	0.00	0	-			143956296	143956297	-1	no_errors	ENST00000493325	ensembl	human	known	69_37n	frame_shift_ins	11	15.38	2	INS	0.000:0.000	T
PCDHGA2	56113	genome.wustl.edu	37	5	140720425	140720425	+	Silent	SNP	G	G	A			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr5:140720425G>A	ENST00000394576.2	+	1	1887	c.1887G>A	c.(1885-1887)gcG>gcA	p.A629A	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	629	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCACGGCGCGAGCCCTGC	0.687																																						dbGAP											0													35.0	43.0	40.0					5																	140720425		2200	4292	6492	-	-	-	SO:0001819	synonymous_variant	0			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1887G>A	5.37:g.140720425G>A			Q52LL6|Q9Y5D5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A629	ENST00000394576.2	37	c.1887	CCDS47289.1	5																																																																																			PCDHGA2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000081853		0.687	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	HGNC	protein_coding	OTTHUMT00000374738.1	143	0.69	1	G	NM_018915		140720425	140720425	+1	no_errors	ENST00000394576	ensembl	human	known	69_37n	silent	74	30.84	33	SNP	0.005	A
PLXNA1	5361	genome.wustl.edu	37	3	126735390	126735391	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr3:126735390_126735391insC	ENST00000393409.2	+	15	3045_3046	c.3045_3046insC	c.(3046-3048)cccfs	p.P1016fs	PLXNA1_ENST00000251772.4_Frame_Shift_Ins_p.P993fs	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1016	IPT/TIG 2.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.Q996fs*22(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GGTGCCTGACACCCCCCGGGCA	0.624																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3051dupC	3.37:g.126735396_126735396dupC	ENSP00000377061:p.Pro1016fs			Frame_Shift_Ins	INS	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.G1017fs	ENST00000393409.2	37	c.3045_3046	CCDS33847.2	3																																																																																			PLXNA1	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	ENSG00000114554		0.624	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	32	0.00	0	-	NM_032242		126735390	126735391	+1	no_errors	ENST00000393409	ensembl	human	known	69_37n	frame_shift_ins	12	20.00	3	INS	0.554:0.981	C
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	157	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	176	66.60	351	SNP	1.000	G
POTEE	445582	genome.wustl.edu	37	2	131976219	131976219	+	Missense_Mutation	SNP	G	G	A	rs530766889		TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr2:131976219G>A	ENST00000356920.5	+	1	338	c.244G>A	c.(244-246)Gct>Act	p.A82T	POTEE_ENST00000358087.5_Missense_Mutation_p.A82T|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	82					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.A82T(2)									CAACGTGGGCGCTTCTGGAGA	0.602													g|||	1	0.000199681	0.0	0.0	5008	,	,		14720	0.0		0.0	False		,,,				2504	0.001					dbGAP											2	Substitution - Missense(2)	large_intestine(2)											81.0	83.0	82.0					2																	131976219		2201	4293	6494	-	-	-	SO:0001583	missense	0			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.244G>A	2.37:g.131976219G>A	ENSP00000439189:p.Ala82Thr		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.A82T	ENST00000356920.5	37	c.244	CCDS46414.1	2	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.900130	0.00517	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.75367	-0.93;1.78	0.619	0.619	0.17630	.	.	.	.	.	T	0.32071	0.0817	N	0.01576	-0.805	0.09310	N	1	P	0.52463	0.953	B	0.32149	0.141	T	0.44922	-0.9296	8	0.02654	T	1	.	.	.	.	.	82	Q6S8J3	POTEE_HUMAN	T	82	ENSP00000439189:A82T;ENSP00000443049:A82T	ENSP00000439189:A82T	A	+	1	0	AC131180.1	131692689	0.000000	0.05858	0.002000	0.10522	0.062000	0.15995	-1.322000	0.02695	0.595000	0.29777	0.162000	0.16502	GCT	AC131180.1	-	NULL	ENSG00000188219		0.602	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	Clone_based_ensembl_gene	protein_coding		82	0.00	0	G	NM_001083538		131976219	131976219	+1	no_errors	ENST00000356920	ensembl	human	known	69_37n	missense	41	41.43	29	SNP	0.002	A
PPFIA2	8499	genome.wustl.edu	37	12	81671196	81671196	+	Intron	SNP	T	T	C			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr12:81671196T>C	ENST00000549396.1	-	28	3373				PPFIA2_ENST00000443686.3_Intron|PPFIA2_ENST00000552948.1_Intron|PPFIA2_ENST00000333447.7_Silent_p.K1058K|PPFIA2_ENST00000407050.4_Intron|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000550359.2_Intron|PPFIA2_ENST00000548586.1_Intron|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000541570.2_Intron|PPFIA2_ENST00000549325.1_Intron|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550584.2_Intron	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2						cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AACTTGTTCttttttttttat	0.333																																						dbGAP											0													40.0	36.0	37.0					12																	81671196		1761	4017	5778	-	-	-	SO:0001627	intron_variant	0			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3213-3A>G	12.37:g.81671196T>C			B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_tRNA-bd_arm,smart_SAM,pfscan_SAM	p.K1058	ENST00000549396.1	37	c.3174	CCDS55857.1	12																																																																																			PPFIA2	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000139220		0.333	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	8	0.00	0	T			81671196	81671196	-1	no_errors	ENST00000333447	ensembl	human	known	69_37n	silent	10	52.38	11	SNP	0.185	C
RELL1	768211	genome.wustl.edu	37	4	37640083	37640083	+	Silent	SNP	C	C	A			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr4:37640083C>A	ENST00000454158.2	-	4	517	c.429G>T	c.(427-429)ctG>ctT	p.L143L	RELL1_ENST00000314117.4_Silent_p.L143L	NM_001085400.1	NP_001078869.1	Q8IUW5	RELL1_HUMAN	RELT-like 1	143						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						CAGGATCATACAGGCTGTTAT	0.383																																						dbGAP											0													125.0	126.0	126.0					4																	37640083		1913	4127	6040	-	-	-	SO:0001819	synonymous_variant	0			AK025431	CCDS43221.1	4p14	2011-10-11				ENSG00000181826			27379	protein-coding gene	gene with protein product		611212				16389068	Standard	NM_001085399		Approved		uc003gsz.2	Q8IUW5		ENST00000454158.2:c.429G>T	4.37:g.37640083C>A			Q8NBK1	Silent	SNP	pfam_TNF_rcpt_RELT	p.L143	ENST00000454158.2	37	c.429	CCDS43221.1	4																																																																																			RELL1	-	NULL	ENSG00000181826		0.383	RELL1-002	KNOWN	alternative_3_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	RELL1	HGNC	protein_coding	OTTHUMT00000360485.1	138	0.00	0	C	NM_001085400		37640083	37640083	-1	no_errors	ENST00000314117	ensembl	human	known	69_37n	silent	95	42.42	70	SNP	0.013	A
SLC1A3	6507	genome.wustl.edu	37	5	36679791	36679791	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr5:36679791G>T	ENST00000265113.4	+	7	1399	c.923G>T	c.(922-924)gGt>gTt	p.G308V	SLC1A3_ENST00000381918.3_Missense_Mutation_p.G308V|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	308					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAAGACATGGGTGTGATTGGG	0.522																																						dbGAP											0													296.0	254.0	268.0					5																	36679791		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.923G>T	5.37:g.36679791G>T	ENSP00000265113:p.Gly308Val		B2R5T3|Q4JCQ8	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.G308V	ENST00000265113.4	37	c.923	CCDS3919.1	5	.	.	.	.	.	.	.	.	.	.	G	14.06	2.423211	0.43020	.	.	ENSG00000079215	ENST00000265113;ENST00000427100;ENST00000381918	T;T	0.61040	0.14;0.14	6.07	6.07	0.98685	.	0.200304	0.53938	D	0.000053	T	0.48447	0.1500	N	0.10809	0.05	0.80722	D	1	B;B	0.28258	0.205;0.151	B;B	0.37989	0.215;0.262	T	0.40534	-0.9558	10	0.27785	T	0.31	-12.9357	20.6439	0.99570	0.0:0.0:1.0:0.0	.	308;308	Q4JCQ8;P43003	.;EAA1_HUMAN	V	308;256;308	ENSP00000265113:G308V;ENSP00000371343:G308V	ENSP00000265113:G308V	G	+	2	0	SLC1A3	36715548	1.000000	0.71417	0.983000	0.44433	0.972000	0.66771	3.345000	0.52182	2.884000	0.98904	0.655000	0.94253	GGT	SLC1A3	-	pfam_Na-dicarboxylate_symporter	ENSG00000079215		0.522	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A3	HGNC	protein_coding	OTTHUMT00000207579.2	252	0.00	0	G	NM_004172		36679791	36679791	+1	no_errors	ENST00000265113	ensembl	human	known	69_37n	missense	209	17.39	44	SNP	0.989	T
SLC27A5	10998	genome.wustl.edu	37	19	59022779	59022780	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr19:59022779_59022780insC	ENST00000263093.2	-	1	652_653	c.543_544insG	c.(541-546)gcttccfs	p.S182fs	SLC27A5_ENST00000601355.1_Intron	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	182					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		ACGGCCTGGGAAGCCAGCACAA	0.698																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.543_544insG	19.37:g.59022779_59022780insC	ENSP00000263093:p.Ser182fs		B3KVP6|B4DPQ1	Frame_Shift_Ins	INS	pfam_AMP-dep_Synth/Lig	p.S181fs	ENST00000263093.2	37	c.544_543	CCDS12983.1	19																																																																																			SLC27A5	-	pfam_AMP-dep_Synth/Lig	ENSG00000083807		0.698	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A5	HGNC	protein_coding	OTTHUMT00000467060.1	28	0.00	0	-	NM_012254		59022779	59022780	-1	no_errors	ENST00000263093	ensembl	human	known	69_37n	frame_shift_ins	7	22.22	2	INS	0.000:0.000	C
STRADA	92335	genome.wustl.edu	37	17	61781404	61781404	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr17:61781404delG	ENST00000336174.6	-	12	1216	c.1104delC	c.(1102-1104)cccfs	p.P368fs	RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000375840.4_Frame_Shift_Del_p.P310fs|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000447001.3_Frame_Shift_Del_p.P294fs|STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000582137.1_Frame_Shift_Del_p.P309fs|STRADA_ENST00000392950.4_3'UTR	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	368	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						TGCTGGCACTGGGCCTGGAGG	0.577																																						dbGAP											0													88.0	81.0	83.0					17																	61781404		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"""STE20-like pseudokinase"""	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.1104delC	17.37:g.61781404delG	ENSP00000336655:p.Pro368fs		B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Frame_Shift_Del	DEL	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.S369fs	ENST00000336174.6	37	c.1104	CCDS32703.1	17																																																																																			STRADA	-	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	ENSG00000266173		0.577	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRADA	HGNC	protein_coding	OTTHUMT00000443894.1	24	0.00	0	G			61781404	61781404	-1	no_errors	ENST00000336174	ensembl	human	known	69_37n	frame_shift_del	16	11.11	2	DEL	0.606	-
THOC1	9984	genome.wustl.edu	37	18	225118	225119	+	Frame_Shift_Ins	INS	-	-	G	rs368677132		TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr18:225118_225119insG	ENST00000261600.6	-	14	1114_1115	c.1107_1108insC	c.(1105-1110)cccgatfs	p.D370fs		NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	370					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CTTTCTCCATCGGGGGGGTTTT	0.386																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"""THO complex subunits"""	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.1108dupC	18.37:g.225125_225125dupG	ENSP00000261600:p.Asp370fs		B2RBP6|Q15219|Q64I72|Q64I73	Frame_Shift_Ins	INS	pfam_THO_THOC1,pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death	p.D369fs	ENST00000261600.6	37	c.1108_1107	CCDS45820.1	18																																																																																			THOC1	-	pfam_THO_THOC1	ENSG00000079134		0.386	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC1	HGNC	protein_coding	OTTHUMT00000440348.5	27	0.00	0	-	NM_005131		225118	225119	-1	no_errors	ENST00000261600	ensembl	human	known	69_37n	frame_shift_ins	20	13.04	3	INS	1.000:0.059	G
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	155	0.00	0	C	NM_000546		7578406	7578406	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	53	51.38	56	SNP	1.000	T
TRPC4AP	26133	genome.wustl.edu	37	20	33598008	33598010	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr20:33598008_33598010delGCT	ENST00000252015.2	-	12	1580_1582	c.1491_1493delAGC	c.(1489-1494)gaagct>gat	p.497_498EA>D	TRPC4AP_ENST00000432634.2_In_Frame_Del_p.458_459EA>D|TRPC4AP_ENST00000539834.1_In_Frame_Del_p.99_100EA>D|TRPC4AP_ENST00000451813.2_In_Frame_Del_p.489_490EA>D			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	497					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GTTGAGGACAGCTTCCACCTCAG	0.567																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.1491_1493delAGC	20.37:g.33598008_33598010delGCT	ENSP00000252015:p.Glu497_Ala498delinsAsp		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	In_Frame_Del	DEL	pfam_DUF3689	p.EA497in_frame_delD	ENST00000252015.2	37	c.1493_1491	CCDS13246.1	20																																																																																			TRPC4AP	-	pfam_DUF3689	ENSG00000100991		0.567	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4AP	HGNC	protein_coding	OTTHUMT00000078832.2	60	0.00	0	GCT	NM_015638		33598008	33598010	-1	no_errors	ENST00000252015	ensembl	human	known	69_37n	in_frame_del	46	19.30	11	DEL	1.000:1.000:0.697	-
TTN	7273	genome.wustl.edu	37	2	179639817	179639817	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr2:179639817C>G	ENST00000591111.1	-	29	6845	c.6621G>C	c.(6619-6621)tgG>tgC	p.W2207C	TTN_ENST00000342992.6_Missense_Mutation_p.W2207C|TTN_ENST00000342175.6_Missense_Mutation_p.W2161C|TTN_ENST00000359218.5_Missense_Mutation_p.W2161C|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W2161C|TTN-AS1_ENST00000584485.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.W2207C|TTN_ENST00000589042.1_Missense_Mutation_p.W2207C			Q8WZ42	TITIN_HUMAN	titin	12533	Ig-like 11.				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)			CATCTTTATACCATTTCACTT	0.393																																						dbGAP											0													152.0	144.0	147.0					2																	179639817		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.6621G>C	2.37:g.179639817C>G	ENSP00000465570:p.Trp2207Cys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.W2207C	ENST00000591111.1	37	c.6621		2	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496481	0.44352	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	D;D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97;-3.97	5.42	5.42	0.78866	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.98947	0.9642	H	0.97491	4.015	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.99395	1.0926	9	0.87932	D	0	.	19.2123	0.93760	0.0:1.0:0.0:0.0	.	2161;2161;2161;2207;2207	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	C	2207;2161;2161;2161;2161;2207	ENSP00000343764:W2207C;ENSP00000434586:W2161C;ENSP00000340554:W2161C;ENSP00000352154:W2161C;ENSP00000354117:W2207C	ENSP00000340554:W2161C	W	-	3	0	TTN	179348062	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.818000	0.86416	2.542000	0.85734	0.557000	0.71058	TGG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	157	0.00	0	C	NM_133378		179639817	179639817	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	184	13.21	28	SNP	1.000	G
USP38	84640	genome.wustl.edu	37	4	144116875	144116875	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr4:144116875T>G	ENST00000307017.4	+	3	1331	c.825T>G	c.(823-825)atT>atG	p.I275M	USP38_ENST00000510377.1_Missense_Mutation_p.I275M	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	275					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					TCAGAATGATTGACTGGCTAT	0.363																																						dbGAP											0													83.0	81.0	82.0					4																	144116875		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.825T>G	4.37:g.144116875T>G	ENSP00000303434:p.Ile275Met		B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.I275M	ENST00000307017.4	37	c.825	CCDS3758.1	4	.	.	.	.	.	.	.	.	.	.	T	23.7	4.450550	0.84101	.	.	ENSG00000170185	ENST00000510377;ENST00000307017	T;T	0.68181	-0.27;-0.31	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.77758	0.4178	L	0.50333	1.59	0.80722	D	1	D;D	0.71674	0.998;0.984	D;D	0.71414	0.973;0.925	T	0.79881	-0.1616	10	0.87932	D	0	-8.0E-4	16.056	0.80805	0.0:0.0:0.0:1.0	.	275;275	Q8NB14;Q3ZCV1	UBP38_HUMAN;.	M	275	ENSP00000427647:I275M;ENSP00000303434:I275M	ENSP00000303434:I275M	I	+	3	3	USP38	144336325	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.644000	0.37228	2.178000	0.69098	0.533000	0.62120	ATT	USP38	-	NULL	ENSG00000170185		0.363	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP38	HGNC	protein_coding	OTTHUMT00000364869.1	126	0.00	0	T	NM_032557		144116875	144116875	+1	no_errors	ENST00000307017	ensembl	human	known	69_37n	missense	134	27.96	52	SNP	1.000	G
VWA7	80737	genome.wustl.edu	37	6	31740805	31740805	+	Missense_Mutation	SNP	C	C	T	rs536885510		TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr6:31740805C>T	ENST00000375688.4	-	7	1213	c.1013G>A	c.(1012-1014)cGc>cAc	p.R338H	VWA7_ENST00000375686.3_Missense_Mutation_p.R338H|VWA7_ENST00000447450.1_Missense_Mutation_p.R338H|VWA7_ENST00000467576.1_5'UTR			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	338	VWFA.					extracellular region (GO:0005576)											CACAAGGTGGCGAGCCTGGAT	0.602													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17312	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													49.0	39.0	43.0					6																	31740805		1511	2709	4220	-	-	-	SO:0001583	missense	0				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1013G>A	6.37:g.31740805C>T	ENSP00000364840:p.Arg338His		A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	NULL	p.R338H	ENST00000375688.4	37	c.1013	CCDS4721.2	6	.	.	.	.	.	.	.	.	.	.	C	4.122	0.020929	0.08006	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	D;D;D	0.97598	-4.45;-4.45;-4.45	5.61	4.72	0.59763	von Willebrand factor, type A (1);	0.245701	0.42294	D	0.000739	D	0.88764	0.6525	L	0.39898	1.24	0.28331	N	0.921765	P	0.42757	0.789	B	0.34418	0.182	T	0.82868	-0.0244	10	0.17832	T	0.49	-19.7657	13.4015	0.60885	0.1584:0.8416:0.0:0.0	.	338	Q9Y334	G7C_HUMAN	H	338	ENSP00000364840:R338H;ENSP00000364838:R338H;ENSP00000390554:R338H	ENSP00000364838:R338H	R	-	2	0	C6orf27	31848784	0.996000	0.38824	0.982000	0.44146	0.126000	0.20510	2.662000	0.46766	1.307000	0.44944	0.460000	0.39030	CGC	VWA7	-	NULL	ENSG00000204396		0.602	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VWA7	HGNC	protein_coding	OTTHUMT00000076233.2	35	0.00	0	C	NM_025258		31740805	31740805	-1	no_errors	ENST00000375686	ensembl	human	known	69_37n	missense	14	30.00	6	SNP	0.741	T
ZIC2	7546	genome.wustl.edu	37	13	100635008	100635010	+	In_Frame_Del	DEL	CCA	CCA	-	rs375069774		TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	CCA	CCA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr13:100635008_100635010delCCA	ENST00000376335.3	+	1	983_985	c.690_692delCCA	c.(688-693)gcccac>gcc	p.H239del		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	239	Necessary for interaction with MDFIC and transcriptional activation or repression. {ECO:0000250}.|Poly-His.		H -> HH. {ECO:0000269|PubMed:15221788}.|Missing. {ECO:0000269|PubMed:15221788}.		brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCCGCGGCccaccaccaccac	0.621																																					Pancreas(97;119 1522 31925 44771 48764)	dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.690_692delCCA	13.37:g.100635017_100635019delCCA	ENSP00000365514:p.His239del		Q5VYA9|Q9H309	In_Frame_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H234in_frame_del	ENST00000376335.3	37	c.690_692	CCDS9495.1	13																																																																																			ZIC2	-	NULL	ENSG00000043355		0.621	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC2	HGNC	protein_coding	OTTHUMT00000045618.2	30	0.00	0	CCA	NM_007129		100635008	100635010	+1	no_errors	ENST00000376335	ensembl	human	known	69_37n	in_frame_del	4	33.33	2	DEL	0.990:0.999:1.000	-
ZNF646	9726	genome.wustl.edu	37	16	31090899	31090899	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0GY-01A-11W-A071-09	TCGA-BH-A0GY-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	db589949-1630-45b2-b09b-0312d3efd60b	066a335d-a487-40d1-963c-71a15f5ed769	g.chr16:31090899C>T	ENST00000394979.2	+	1	3677	c.3254C>T	c.(3253-3255)tCc>tTc	p.S1085F	ZNF646_ENST00000300850.5_Missense_Mutation_p.S1085F			O15015	ZN646_HUMAN	zinc finger protein 646	1085					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCTGTCTGCTCCCGCTGCTAC	0.617																																						dbGAP											0													139.0	146.0	144.0					16																	31090899		2197	4299	6496	-	-	-	SO:0001583	missense	0			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3254C>T	16.37:g.31090899C>T	ENSP00000378429:p.Ser1085Phe		Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1085F	ENST00000394979.2	37	c.3254		16	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200314	0.58126	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.30182	1.54;1.54	5.75	5.75	0.90469	.	.	.	.	.	T	0.44787	0.1310	L	0.37750	1.13	0.35194	D	0.773658	D	0.71674	0.998	D	0.65443	0.935	T	0.54970	-0.8213	9	0.87932	D	0	-6.8789	14.9499	0.71064	0.0:0.8564:0.1436:0.0	.	1085	O15015-2	.	F	1085	ENSP00000300850:S1085F;ENSP00000378429:S1085F	ENSP00000300850:S1085F	S	+	2	0	ZNF646	30998400	0.000000	0.05858	1.000000	0.80357	0.992000	0.81027	0.153000	0.16323	2.714000	0.92807	0.563000	0.77884	TCC	ZNF646	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167395		0.617	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	182	0.00	0	C	NM_014699		31090899	31090899	+1	no_errors	ENST00000300850	ensembl	human	known	69_37n	missense	50	21.88	14	SNP	0.997	T
