#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_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
ADAMTS7	11173	genome.wustl.edu	37	15	79059020	79059021	+	Frame_Shift_Ins	INS	-	-	A	rs199873382	byFrequency	TCGA-D8-A27T-01A-11D-A16D-09	TCGA-D8-A27T-10A-01D-A16D-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ecabcc6a-2767-4ad8-ac4f-54cc3d081b6e	bb595689-dcda-48af-b114-e0fe28c3d794	g.chr15:79059020_79059021insA	ENST00000388820.4	-	19	3442_3443	c.3232_3233insT	c.(3232-3234)tacfs	p.Y1078fs	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1078					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGAGGGCCCGTAGGACAGATCC	0.624																																						dbGAP											0										42,4206		0,42,2082						4.4	0.0			24	197,8007		1,195,3906	no	frameshift	ADAMTS7	NM_014272.3		1,237,5988	A1A1,A1R,RR		2.4013,0.9887,1.9194				239,12213				-	-	-	SO:0001589	frameshift_variant	0			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3233dupT	15.37:g.79059021_79059021dupA	ENSP00000373472:p.Tyr1078fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14F51|Q6P7J9	Frame_Shift_Ins	INS	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.Y1078fs	ENST00000388820.4	37	c.3233_3232	CCDS32303.1	15																																																																																			ADAMTS7	-	NULL	ENSG00000136378		0.624	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS7	HGNC	protein_coding	OTTHUMT00000421331.1	19	0.00	0	-	NM_014272		79059020	79059021	-1	no_errors	ENST00000388820	ensembl	human	known	69_37n	frame_shift_ins	15	16.67	3	INS	0.032:0.024	A
ARMCX5	64860	genome.wustl.edu	37	X	101858272	101858272	+	Silent	SNP	C	C	T			TCGA-D8-A27T-01A-11D-A16D-09	TCGA-D8-A27T-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ecabcc6a-2767-4ad8-ac4f-54cc3d081b6e	bb595689-dcda-48af-b114-e0fe28c3d794	g.chrX:101858272C>T	ENST00000604957.1	+	1	3825	c.1203C>T	c.(1201-1203)atC>atT	p.I401I	ARMCX5_ENST00000372742.1_Silent_p.I401I|ARMCX5_ENST00000541409.1_Silent_p.I401I|ARMCX5_ENST00000246174.2_Silent_p.I401I|ARMCX5_ENST00000536530.1_Silent_p.I401I|ARMCX5_ENST00000537008.1_Silent_p.I401I|RP4-769N13.6_ENST00000476910.2_RNA|RP4-769N13.7_ENST00000602441.1_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	401										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						AAGGCATAATCTCTTGCCCCT	0.418																																						dbGAP											0													59.0	58.0	58.0					X																	101858272		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.1203C>T	X.37:g.101858272C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.I401	ENST00000604957.1	37	c.1203	CCDS14500.1	X																																																																																			ARMCX5	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	ENSG00000125962		0.418	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARMCX5	HGNC	protein_coding	OTTHUMT00000469659.1	33	0.00	0	C	NM_022838		101858272	101858272	+1	no_errors	ENST00000246174	ensembl	human	known	69_37n	silent	28	34.88	15	SNP	0.000	T
CDH1	999	genome.wustl.edu	37	16	68846166	68846166	+	Splice_Site	SNP	G	G	A	rs587783050		TCGA-D8-A27T-01A-11D-A16D-09	TCGA-D8-A27T-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ecabcc6a-2767-4ad8-ac4f-54cc3d081b6e	bb595689-dcda-48af-b114-e0fe28c3d794	g.chr16:68846166G>A	ENST00000261769.5	+	8	1328	c.1137G>A	c.(1135-1137)acG>acA	p.T379T	CDH1_ENST00000422392.2_Splice_Site_p.T379T|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	379	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.S337_T379del(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		ATCCCACCACGGTAATTCTAT	0.453			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	2	Unknown(1)|Deletion - In frame(1)	stomach(1)|breast(1)	GRCh37	CS060517	CDH1	S							102.0	87.0	92.0					16																	68846166		2198	4300	6498	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1137+1G>A	16.37:g.68846166G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T379	ENST00000261769.5	37	c.1137	CCDS10869.1	16																																																																																			CDH1	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000039068		0.453	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	52	0.00	0	G	NM_004360	Silent	68846166	68846166	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	silent	14	51.61	16	SNP	0.582	A
EHMT1	79813	genome.wustl.edu	37	9	140707938	140707938	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27T-01A-11D-A16D-09	TCGA-D8-A27T-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ecabcc6a-2767-4ad8-ac4f-54cc3d081b6e	bb595689-dcda-48af-b114-e0fe28c3d794	g.chr9:140707938G>A	ENST00000460843.1	+	21	3163	c.3136G>A	c.(3136-3138)Gtg>Atg	p.V1046M		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1046					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TCAGAACTGCGTGACGTCCCC	0.582																																						dbGAP											0													144.0	91.0	109.0					9																	140707938		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3136G>A	9.37:g.140707938G>A	ENSP00000417980:p.Val1046Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.V1046M	ENST00000460843.1	37	c.3136	CCDS7050.2	9	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517897	0.85495	.	.	ENSG00000181090	ENST00000371400;ENST00000460843	D	0.90133	-2.62	4.99	4.99	0.66335	Pre-SET zinc-binding sub-group (1);Pre-SET domain (1);	0.057471	0.64402	D	0.000002	D	0.93380	0.7889	L	0.46885	1.475	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.93144	0.6544	10	0.44086	T	0.13	.	18.2827	0.90103	0.0:0.0:1.0:0.0	.	1046	Q9H9B1	EHMT1_HUMAN	M	1015;1046	ENSP00000417980:V1046M	ENSP00000360453:V1015M	V	+	1	0	EHMT1	139827759	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	6.247000	0.72411	2.292000	0.77174	0.655000	0.94253	GTG	EHMT1	-	pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub	ENSG00000181090		0.582	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	29	0.00	0	G	NM_024757		140707938	140707938	+1	no_errors	ENST00000460843	ensembl	human	known	69_37n	missense	6	50.00	6	SNP	1.000	A
EIF2AK4	440275	genome.wustl.edu	37	15	40295488	40295488	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27T-01A-11D-A16D-09	TCGA-D8-A27T-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ecabcc6a-2767-4ad8-ac4f-54cc3d081b6e	bb595689-dcda-48af-b114-e0fe28c3d794	g.chr15:40295488G>T	ENST00000263791.5	+	23	3373	c.3330G>T	c.(3328-3330)atG>atT	p.M1110I	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.M1082I|EIF2AK4_ENST00000559311.1_3'UTR	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1110	Histidyl-tRNA synthetase-like.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ACAGCGGGATGCTGGTGATGC	0.498																																						dbGAP											0													102.0	100.0	101.0					15																	40295488		2073	4217	6290	-	-	-	SO:0001583	missense	0			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.3330G>T	15.37:g.40295488G>T	ENSP00000263791:p.Met1110Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_cat_dom	p.M1110I	ENST00000263791.5	37	c.3330	CCDS42016.1	15	.	.	.	.	.	.	.	.	.	.	G	18.94	3.728730	0.69074	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.41400	1.0;1.0	5.79	5.79	0.91817	.	0.040624	0.85682	D	0.000000	T	0.34687	0.0906	N	0.19112	0.55	0.54753	D	0.99998	P;P	0.44521	0.629;0.837	B;B	0.40636	0.16;0.335	T	0.14090	-1.0485	10	0.49607	T	0.09	-31.9203	20.0367	0.97561	0.0:0.0:1.0:0.0	.	1082;1110	Q9P2K8-2;Q9P2K8	.;E2AK4_HUMAN	I	1110;1082	ENSP00000263791:M1110I;ENSP00000372174:M1082I	ENSP00000263791:M1110I	M	+	3	0	EIF2AK4	38082780	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.868000	0.87116	2.727000	0.93392	0.591000	0.81541	ATG	EIF2AK4	-	pirsf_Ser/Thr_kinase_GCN2	ENSG00000128829		0.498	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK4	HGNC	protein_coding	OTTHUMT00000418395.1	59	0.00	0	G			40295488	40295488	+1	no_errors	ENST00000263791	ensembl	human	known	69_37n	missense	59	10.61	7	SNP	1.000	T
GAL3ST4	79690	genome.wustl.edu	37	7	99757738	99757738	+	Missense_Mutation	SNP	C	C	T	rs199565529		TCGA-D8-A27T-01A-11D-A16D-09	TCGA-D8-A27T-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ecabcc6a-2767-4ad8-ac4f-54cc3d081b6e	bb595689-dcda-48af-b114-e0fe28c3d794	g.chr7:99757738C>T	ENST00000360039.4	-	4	1666	c.1274G>A	c.(1273-1275)cGc>cAc	p.R425H	C7orf43_ENST00000419841.1_5'Flank|C7orf43_ENST00000457641.1_5'Flank|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R425H|GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R363H|GAL3ST4_ENST00000411994.1_3'UTR|C7orf43_ENST00000498638.1_5'Flank|C7orf43_ENST00000316937.3_5'Flank	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	425					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)	p.R425H(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGGAAGGGGCGGAACCGGCG	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		19515	0.001		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	lung(1)											85.0	78.0	80.0					7																	99757738		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.1274G>A	7.37:g.99757738C>T	ENSP00000353142:p.Arg425His	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	pfam_Gal-3-0_sulfotransfrase	p.R425H	ENST00000360039.4	37	c.1274	CCDS5688.1	7	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	25.0	4.596467	0.86953	.	.	ENSG00000197093	ENST00000413800;ENST00000360039;ENST00000426974	T;T;T	0.16073	2.37;2.37;2.37	5.92	5.92	0.95590	.	0.158975	0.34531	U	0.003896	T	0.43853	0.1266	M	0.71036	2.16	0.48762	D	0.9997	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.984	T	0.16335	-1.0406	10	0.62326	D	0.03	-9.1355	17.8145	0.88627	0.0:1.0:0.0:0.0	.	363;425	B4DWL8;Q96RP7	.;G3ST4_HUMAN	H	425;425;363	ENSP00000400451:R425H;ENSP00000353142:R425H;ENSP00000398304:R363H	ENSP00000353142:R425H	R	-	2	0	GAL3ST4	99595674	0.984000	0.35163	1.000000	0.80357	0.984000	0.73092	2.653000	0.46691	2.813000	0.96785	0.561000	0.74099	CGC	GAL3ST4	-	pfam_Gal-3-0_sulfotransfrase	ENSG00000197093		0.582	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAL3ST4	HGNC	protein_coding	OTTHUMT00000337495.2	27	0.00	0	C	NM_024637		99757738	99757738	-1	no_errors	ENST00000360039	ensembl	human	known	69_37n	missense	21	27.59	8	SNP	1.000	T
GNPNAT1	64841	genome.wustl.edu	37	14	53247396	53247396	+	Splice_Site	SNP	C	C	A			TCGA-D8-A27T-01A-11D-A16D-09	TCGA-D8-A27T-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ecabcc6a-2767-4ad8-ac4f-54cc3d081b6e	bb595689-dcda-48af-b114-e0fe28c3d794	g.chr14:53247396C>A	ENST00000216410.3	-	5	595		c.e5+1		RP11-589M4.1_ENST00000555969.1_RNA|GNPNAT1_ENST00000554230.1_Splice_Site	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|glucosamine metabolic process (GO:0006041)|liver development (GO:0001889)|N-acetylglucosamine metabolic process (GO:0006044)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|membrane (GO:0016020)	glucosamine 6-phosphate N-acetyltransferase activity (GO:0004343)|monosaccharide binding (GO:0048029)			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					TGCCTACTTACAATTTGCCAA	0.328																																						dbGAP											0													172.0	173.0	172.0					14																	53247396		2203	4298	6501	-	-	-	SO:0001630	splice_region_variant	0			AK001469	CCDS9712.1	14q22.1	2011-11-16			ENSG00000100522	ENSG00000100522	2.3.1.4		19980	protein-coding gene	gene with protein product							Standard	NM_198066		Approved	Gpnat1, FLJ10607	uc001xab.3	Q96EK6	OTTHUMG00000152334	ENST00000216410.3:c.407+1G>T	14.37:g.53247396C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Splice_Site	SNP	-	e4+1	ENST00000216410.3	37	c.407+1	CCDS9712.1	14	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435111	0.83885	.	.	ENSG00000100522	ENST00000216410;ENST00000554230;ENST00000557604	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3304	0.94283	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GNPNAT1	52317146	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	6.997000	0.76270	2.645000	0.89757	0.591000	0.81541	.	GNPNAT1	-	-	ENSG00000100522		0.328	GNPNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPNAT1	HGNC	protein_coding	OTTHUMT00000276898.1	129	0.00	0	C		Intron	53247396	53247396	-1	no_errors	ENST00000216410	ensembl	human	known	69_37n	splice_site	93	26.19	33	SNP	1.000	A
GPR137B	7107	genome.wustl.edu	37	1	236341813	236341813	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27T-01A-11D-A16D-09	TCGA-D8-A27T-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ecabcc6a-2767-4ad8-ac4f-54cc3d081b6e	bb595689-dcda-48af-b114-e0fe28c3d794	g.chr1:236341813G>T	ENST00000366592.3	+	3	655	c.564G>T	c.(562-564)aaG>aaT	p.K188N	GPR137B_ENST00000366591.4_Intron	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	188						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GGGAGAGGAAGGTTATCGTCT	0.498																																						dbGAP											0													242.0	209.0	220.0					1																	236341813		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"""transmembrane 7 superfamily member 1 (upregulated in kidney)"""	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.564G>T	1.37:g.236341813G>T	ENSP00000355551:p.Lys188Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53EK7|Q5TAE6|Q6FHI3	Missense_Mutation	SNP	NULL	p.K188N	ENST00000366592.3	37	c.564	CCDS1609.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.37|11.37	1.617986|1.617986	0.28801|0.28801	.|.	.|.	ENSG00000077585|ENSG00000077585	ENST00000366592;ENST00000391852|ENST00000454895	T|.	0.47177|.	0.85|.	5.7|5.7	1.59|1.59	0.23543|0.23543	.|.	0.153996|.	0.56097|.	D|.	0.000037|.	T|T	0.60025|0.60025	0.2237|0.2237	M|M	0.61703|0.61703	1.905|1.905	0.36710|0.36710	D|D	0.880572|0.880572	P|.	0.41848|.	0.763|.	B|.	0.39840|.	0.311|.	T|T	0.59669|0.59669	-0.7411|-0.7411	10|5	0.41790|.	T|.	0.15|.	-14.9966|-14.9966	8.7611|8.7611	0.34676|0.34676	0.5532:0.0:0.4468:0.0|0.5532:0.0:0.4468:0.0	.|.	188|.	O60478|.	G137B_HUMAN|.	N|M	188;187|52	ENSP00000355551:K188N|.	ENSP00000355551:K188N|.	K|R	+|+	3|2	2|0	GPR137B|GPR137B	234408436|234408436	1.000000|1.000000	0.71417|0.71417	0.516000|0.516000	0.27786|0.27786	0.931000|0.931000	0.56810|0.56810	1.653000|1.653000	0.37323|0.37323	0.035000|0.035000	0.15519|0.15519	-0.291000|-0.291000	0.09656|0.09656	AAG|AGG	GPR137B	-	NULL	ENSG00000077585		0.498	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR137B	HGNC	protein_coding	OTTHUMT00000092761.1	93	0.00	0	G	NM_003272		236341813	236341813	+1	no_errors	ENST00000366592	ensembl	human	known	69_37n	missense	104	26.24	37	SNP	0.064	T
GUSB	2990	genome.wustl.edu	37	7	65445321	65445321	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27T-01A-11D-A16D-09	TCGA-D8-A27T-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ecabcc6a-2767-4ad8-ac4f-54cc3d081b6e	bb595689-dcda-48af-b114-e0fe28c3d794	g.chr7:65445321C>T	ENST00000304895.4	-	2	416	c.286G>A	c.(286-288)Gtc>Atc	p.V96I	GUSB_ENST00000421103.1_Missense_Mutation_p.V96I|GUSB_ENST00000345660.6_Missense_Mutation_p.V96I|GUSB_ENST00000476486.1_5'UTR	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	96					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						ACCCAGCCGACAAAATGCCGC	0.612																																						dbGAP											0													70.0	56.0	61.0					7																	65445321		2203	4300	6503	-	-	-	SO:0001583	missense	0			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.286G>A	7.37:g.65445321C>T	ENSP00000302728:p.Val96Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2	p.V96I	ENST00000304895.4	37	c.286	CCDS5530.1	7	.	.	.	.	.	.	.	.	.	.	C	10.64	1.407833	0.25378	.	.	ENSG00000169919	ENST00000304895;ENST00000421103;ENST00000345660	D;D;D	0.90133	-2.62;-2.62;-2.62	5.22	0.735	0.18300	Galactose-binding domain-like (1);Glycoside hydrolase, family 2, N-terminal (1);	0.270437	0.40908	N	0.000995	T	0.79569	0.4468	N	0.25094	0.71	0.26205	N	0.979381	B;B	0.09022	0.001;0.002	B;B	0.14578	0.003;0.011	T	0.62599	-0.6820	10	0.18276	T	0.48	.	6.9355	0.24464	0.0:0.3201:0.0:0.6799	.	96;96	E9PCV0;P08236	.;BGLR_HUMAN	I	96	ENSP00000302728:V96I;ENSP00000391390:V96I;ENSP00000340734:V96I	ENSP00000302728:V96I	V	-	1	0	GUSB	65082756	0.904000	0.30761	0.001000	0.08648	0.009000	0.06853	0.722000	0.25925	0.217000	0.20800	-0.291000	0.09656	GTC	GUSB	-	pfam_Glyco_hydro_2_N,superfamily_Galactose-bd-like	ENSG00000169919		0.612	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSB	HGNC	protein_coding	OTTHUMT00000251637.3	25	0.00	0	C	NM_000181		65445321	65445321	-1	no_errors	ENST00000304895	ensembl	human	known	69_37n	missense	20	28.57	8	SNP	0.880	T
KLHL5	51088	genome.wustl.edu	37	4	39114838	39114838	+	Silent	SNP	A	A	G			TCGA-D8-A27T-01A-11D-A16D-09	TCGA-D8-A27T-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ecabcc6a-2767-4ad8-ac4f-54cc3d081b6e	bb595689-dcda-48af-b114-e0fe28c3d794	g.chr4:39114838A>G	ENST00000504108.1	+	9	2308	c.2025A>G	c.(2023-2025)tcA>tcG	p.S675S	KLHL5_ENST00000508137.2_Silent_p.S488S|KLHL5_ENST00000381930.3_Silent_p.S675S|KLHL5_ENST00000359687.2_Silent_p.S675S|RP11-360F5.1_ENST00000509449.1_RNA|KLHL5_ENST00000261426.5_Silent_p.S614S|KLHL5_ENST00000261425.3_Silent_p.S629S	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	675						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						CCAGACTCTCAGACTGTGTGG	0.443																																						dbGAP											0													69.0	67.0	68.0					4																	39114838		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.2025A>G	4.37:g.39114838A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1	p.R187G	ENST00000504108.1	37	c.559	CCDS33974.1	4	.	.	.	.	.	.	.	.	.	.	A	15.23	2.770938	0.49680	.	.	ENSG00000109790	ENST00000515612	.	.	.	5.67	0.27	0.15635	.	.	.	.	.	T	0.45597	0.1350	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23332	-1.0191	4	.	.	.	.	4.208	0.10498	0.5774:0.0:0.1946:0.228	.	.	.	.	G	187	.	.	R	+	1	2	KLHL5	38791233	0.061000	0.20836	0.997000	0.53966	0.999000	0.98932	-0.436000	0.06922	-0.157000	0.11059	0.533000	0.62120	AGA	KLHL5	-	pfam_Kelch_1,smart_Kelch_1	ENSG00000109790		0.443	KLHL5-006	KNOWN	basic|CCDS	protein_coding	KLHL5	HGNC	protein_coding	OTTHUMT00000360604.1	38	0.00	0	A			39114838	39114838	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000515612	ensembl	human	known	69_37n	missense	19	17.39	4	SNP	0.993	G
MFI2	4241	genome.wustl.edu	37	3	196754653	196754653	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27T-01A-11D-A16D-09	TCGA-D8-A27T-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ecabcc6a-2767-4ad8-ac4f-54cc3d081b6e	bb595689-dcda-48af-b114-e0fe28c3d794	g.chr3:196754653C>G	ENST00000296350.5	-	2	291	c.178G>C	c.(178-180)Gcc>Ccc	p.A60P	MFI2_ENST00000296351.4_Missense_Mutation_p.A60P	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	60	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CAGTGGTCGGCGGAGGTGCCC	0.662																																						dbGAP											0													42.0	38.0	39.0					3																	196754653		2200	4300	6500	-	-	-	SO:0001583	missense	0				CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.178G>C	3.37:g.196754653C>G	ENSP00000296350:p.Ala60Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BQE2	Missense_Mutation	SNP	pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60	p.A60P	ENST00000296350.5	37	c.178	CCDS3325.1	3	.	.	.	.	.	.	.	.	.	.	c	4.576	0.106931	0.08780	.	.	ENSG00000163975	ENST00000296350;ENST00000296351;ENST00000439320	T;T;T	0.35048	2.54;1.33;1.33	5.0	2.06	0.26882	.	0.469690	0.23688	N	0.045550	T	0.23133	0.0559	L	0.28740	0.885	0.09310	N	1	B;B;B	0.28470	0.178;0.213;0.034	B;B;B	0.30646	0.072;0.118;0.042	T	0.17561	-1.0365	10	0.25106	T	0.35	-4.1568	7.0838	0.25245	0.1265:0.6727:0.1248:0.076	.	60;60;60	P08582-2;Q53XS6;P08582	.;.;TRFM_HUMAN	P	60	ENSP00000296350:A60P;ENSP00000296351:A60P;ENSP00000393439:A60P	ENSP00000296350:A60P	A	-	1	0	MFI2	198239050	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	0.224000	0.17738	0.146000	0.19002	-1.338000	0.01255	GCC	MFI2	-	pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60	ENSG00000163975		0.662	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MFI2	HGNC	protein_coding	OTTHUMT00000340458.1	18	0.00	0	C			196754653	196754653	-1	no_errors	ENST00000296350	ensembl	human	known	69_37n	missense	3	66.67	8	SNP	0.000	G
PADI3	51702	genome.wustl.edu	37	1	17597589	17597589	+	Silent	SNP	T	T	C			TCGA-D8-A27T-01A-11D-A16D-09	TCGA-D8-A27T-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ecabcc6a-2767-4ad8-ac4f-54cc3d081b6e	bb595689-dcda-48af-b114-e0fe28c3d794	g.chr1:17597589T>C	ENST00000375460.3	+	9	1003	c.963T>C	c.(961-963)gaT>gaC	p.D321D		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	321					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GTTTTGTGGATGCGGTGGCAG	0.647																																						dbGAP											0													63.0	61.0	62.0					1																	17597589		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.963T>C	1.37:g.17597589T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q58EY7|Q70SX5	Silent	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.D321	ENST00000375460.3	37	c.963	CCDS179.1	1																																																																																			PADI3	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub	ENSG00000142619		0.647	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI3	HGNC	protein_coding	OTTHUMT00000006805.1	24	0.00	0	T			17597589	17597589	+1	no_errors	ENST00000375460	ensembl	human	known	69_37n	silent	10	41.18	7	SNP	0.029	C
PCDH9	5101	genome.wustl.edu	37	13	67802512	67802512	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27T-01A-11D-A16D-09	TCGA-D8-A27T-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ecabcc6a-2767-4ad8-ac4f-54cc3d081b6e	bb595689-dcda-48af-b114-e0fe28c3d794	g.chr13:67802512C>T	ENST00000377865.2	-	1	195	c.61G>A	c.(61-63)Gca>Aca	p.A21T	PCDH9_ENST00000456367.1_Missense_Mutation_p.A21T|PCDH9_ENST00000377861.3_Missense_Mutation_p.A21T|PCDH9_ENST00000328454.5_Missense_Mutation_p.A21T|PCDH9_ENST00000544246.1_Missense_Mutation_p.A21T			Q9HC56	PCDH9_HUMAN	protocadherin 9	21					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A21T(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGAGCTATTGCGGAATCCAGC	0.383																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											73.0	73.0	73.0					13																	67802512		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.61G>A	13.37:g.67802512C>T	ENSP00000367096:p.Ala21Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A21T	ENST00000377865.2	37	c.61	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463505	0.26248	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.54866	0.61;0.61;0.55;0.55;0.57	5.82	5.82	0.92795	.	0.104012	0.64402	D	0.000003	T	0.45657	0.1353	L	0.29908	0.895	0.45490	D	0.998456	B;B;B;B	0.21071	0.051;0.0;0.005;0.022	B;B;B;B	0.15870	0.006;0.0;0.014;0.006	T	0.23583	-1.0184	10	0.41790	T	0.15	.	20.1012	0.97876	0.0:1.0:0.0:0.0	.	21;21;21;21	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	T	21	ENSP00000442186:A21T;ENSP00000367096:A21T;ENSP00000401699:A21T;ENSP00000332060:A21T;ENSP00000367092:A21T	ENSP00000332060:A21T	A	-	1	0	PCDH9	66700513	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.625000	0.61262	2.754000	0.94517	0.650000	0.86243	GCA	PCDH9	-	superfamily_Cadherin-like	ENSG00000184226		0.383	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	68	0.00	0	C	NM_203487		67802512	67802512	-1	no_errors	ENST00000377865	ensembl	human	known	69_37n	missense	47	11.32	6	SNP	1.000	T
PGK1	5230	genome.wustl.edu	37	X	77378415	77378415	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A27T-01A-11D-A16D-09	TCGA-D8-A27T-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ecabcc6a-2767-4ad8-ac4f-54cc3d081b6e	bb595689-dcda-48af-b114-e0fe28c3d794	g.chrX:77378415T>C	ENST00000373316.4	+	7	892	c.725T>C	c.(724-726)tTt>tCt	p.F242S	PGK1_ENST00000537456.1_Missense_Mutation_p.F214S|PGK1_ENST00000442431.1_Missense_Mutation_p.F106S	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	242					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	GGAATGGCTTTTACCTTCCTT	0.388																																						dbGAP											0													155.0	123.0	134.0					X																	77378415		2203	4300	6503	-	-	-	SO:0001583	missense	0			L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.725T>C	X.37:g.77378415T>C	ENSP00000362413:p.Phe242Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Missense_Mutation	SNP	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase	p.F242S	ENST00000373316.4	37	c.725	CCDS14438.1	X	.	.	.	.	.	.	.	.	.	.	T	18.75	3.691113	0.68271	.	.	ENSG00000102144	ENST00000373316;ENST00000442431;ENST00000450919;ENST00000537456	D;D;D	0.92099	-2.97;-2.97;-2.97	5.19	5.19	0.71726	Phosphoglycerate kinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96728	0.8932	H	0.95917	3.74	0.40599	D	0.981565	B	0.24920	0.114	P	0.46452	0.517	D	0.96904	0.9662	10	0.72032	D	0.01	-7.9426	13.4325	0.61064	0.0:0.0:0.0:1.0	.	242	P00558	PGK1_HUMAN	S	242;106;67;214	ENSP00000362413:F242S;ENSP00000405452:F106S;ENSP00000444708:F214S	ENSP00000362413:F242S	F	+	2	0	PGK1	77265071	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.888000	0.63164	1.834000	0.53371	0.481000	0.45027	TTT	PGK1	-	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase	ENSG00000102144		0.388	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGK1	HGNC	protein_coding	OTTHUMT00000057310.1	96	0.00	0	T			77378415	77378415	+1	no_errors	ENST00000373316	ensembl	human	known	69_37n	missense	51	37.80	31	SNP	1.000	C
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-D8-A27T-01A-11D-A16D-09	TCGA-D8-A27T-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ecabcc6a-2767-4ad8-ac4f-54cc3d081b6e	bb595689-dcda-48af-b114-e0fe28c3d794	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	SO:0001583	missense	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.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	81	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	71	25.26	24	SNP	1.000	A
PITPNM1	9600	genome.wustl.edu	37	11	67260513	67260513	+	Silent	SNP	G	G	A			TCGA-D8-A27T-01A-11D-A16D-09	TCGA-D8-A27T-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ecabcc6a-2767-4ad8-ac4f-54cc3d081b6e	bb595689-dcda-48af-b114-e0fe28c3d794	g.chr11:67260513G>A	ENST00000534749.1	-	22	3551	c.3363C>T	c.(3361-3363)gcC>gcT	p.A1121A	PITPNM1_ENST00000526450.1_5'Flank|PITPNM1_ENST00000436757.2_Silent_p.A1120A|PITPNM1_ENST00000356404.3_Silent_p.A1121A			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	1121					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						ACCCATAACCGGCCACGATGT	0.662																																					GBM(28;144 709 4607 5525)	dbGAP											0													106.0	114.0	112.0					11																	67260513		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.3363C>T	11.37:g.67260513G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.A1121	ENST00000534749.1	37	c.3363	CCDS31620.1	11																																																																																			PITPNM1	-	pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2	ENSG00000110697		0.662	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PITPNM1	HGNC	protein_coding	OTTHUMT00000395520.1	28	0.00	0	G	NM_004910		67260513	67260513	-1	no_errors	ENST00000356404	ensembl	human	known	69_37n	silent	29	23.68	9	SNP	0.740	A
PTPRN2	5799	genome.wustl.edu	37	7	157959701	157959701	+	Missense_Mutation	SNP	G	G	T	rs551350068		TCGA-D8-A27T-01A-11D-A16D-09	TCGA-D8-A27T-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ecabcc6a-2767-4ad8-ac4f-54cc3d081b6e	bb595689-dcda-48af-b114-e0fe28c3d794	g.chr7:157959701G>T	ENST00000389418.4	-	6	841	c.832C>A	c.(832-834)Cct>Act	p.P278T	PTPRN2_ENST00000409483.1_Missense_Mutation_p.P240T|PTPRN2_ENST00000389413.3_Missense_Mutation_p.P278T|PTPRN2_ENST00000389416.4_Missense_Mutation_p.P261T|PTPRN2_ENST00000404321.2_Missense_Mutation_p.P301T	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	278					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCCAGCAAAGGCCTGGGCATT	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		17285	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													13.0	12.0	13.0					7																	157959701		2153	4228	6381	-	-	-	SO:0001583	missense	0			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.832C>A	7.37:g.157959701G>T	ENSP00000374069:p.Pro278Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.P301T	ENST00000389418.4	37	c.901	CCDS5947.1	7	.	.	.	.	.	.	.	.	.	.	G	11.15	1.553380	0.27739	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.03035	4.1;4.07;4.1;4.11;4.1	4.22	3.34	0.38264	.	0.731959	0.10684	N	0.645996	T	0.04182	0.0116	N	0.19112	0.55	0.09310	N	1	P;P;P;P;P	0.40731	0.728;0.608;0.728;0.608;0.608	B;B;B;B;B	0.43623	0.372;0.244;0.425;0.244;0.244	T	0.47289	-0.9129	10	0.46703	T	0.11	.	10.0265	0.42074	0.0:0.2553:0.7447:0.0	.	301;240;278;261;278	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	T	240;278;261;278;301	ENSP00000387114:P240T;ENSP00000374064:P278T;ENSP00000374067:P261T;ENSP00000374069:P278T;ENSP00000385464:P301T	ENSP00000374064:P278T	P	-	1	0	PTPRN2	157652462	0.562000	0.26586	0.073000	0.20177	0.040000	0.13550	1.556000	0.36288	1.093000	0.41377	0.555000	0.69702	CCT	PTPRN2	-	NULL	ENSG00000155093		0.672	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	HGNC	protein_coding	OTTHUMT00000353214.1	19	0.00	0	G			157959701	157959701	-1	no_errors	ENST00000404321	ensembl	human	known	69_37n	missense	8	38.46	5	SNP	0.137	T
RIN1	9610	genome.wustl.edu	37	11	66102467	66102467	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27T-01A-11D-A16D-09	TCGA-D8-A27T-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ecabcc6a-2767-4ad8-ac4f-54cc3d081b6e	bb595689-dcda-48af-b114-e0fe28c3d794	g.chr11:66102467G>C	ENST00000311320.4	-	6	929	c.803C>G	c.(802-804)cCc>cGc	p.P268R	RIN1_ENST00000424433.2_Missense_Mutation_p.P163R|RIN1_ENST00000524804.1_5'Flank|RIN1_ENST00000530056.1_Missense_Mutation_p.P163R|RP11-867G23.12_ENST00000526655.1_RNA	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	268	Pro-rich.				associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						TGGCAGCACGGGGACGGGGGG	0.667																																						dbGAP											0													24.0	24.0	24.0					11																	66102467		2198	4292	6490	-	-	-	SO:0001583	missense	0			L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.803C>G	11.37:g.66102467G>C	ENSP00000310406:p.Pro268Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O15010|Q00427|Q96CC8	Missense_Mutation	SNP	pfam_VPS9,pfam_Ras-assoc,smart_SH2,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.P268R	ENST00000311320.4	37	c.803	CCDS31614.1	11	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664796	0.47572	.	.	ENSG00000174791	ENST00000311320;ENST00000424433;ENST00000530056	T;T;T	0.19669	2.61;2.52;2.13	4.15	4.15	0.48705	.	0.524747	0.16972	N	0.192063	T	0.41026	0.1141	L	0.56769	1.78	0.47905	D	0.999541	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.11348	-1.0591	10	0.45353	T	0.12	-23.9221	12.3156	0.54955	0.0:0.0:1.0:0.0	.	163;268	E9PNR2;Q13671	.;RIN1_HUMAN	R	268;163;163	ENSP00000310406:P268R;ENSP00000400560:P163R;ENSP00000432798:P163R	ENSP00000310406:P268R	P	-	2	0	RIN1	65859043	0.978000	0.34361	0.095000	0.20976	0.084000	0.17831	2.949000	0.49074	2.039000	0.60335	0.462000	0.41574	CCC	RIN1	-	NULL	ENSG00000174791		0.667	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN1	HGNC	protein_coding	OTTHUMT00000392980.2	27	0.00	0	G	NM_004292		66102467	66102467	-1	no_errors	ENST00000311320	ensembl	human	known	69_37n	missense	16	30.43	7	SNP	0.967	C
SCN2A	6326	genome.wustl.edu	37	2	166223736	166223736	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27T-01A-11D-A16D-09	TCGA-D8-A27T-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ecabcc6a-2767-4ad8-ac4f-54cc3d081b6e	bb595689-dcda-48af-b114-e0fe28c3d794	g.chr2:166223736G>A	ENST00000375437.2	+	19	3820	c.3530G>A	c.(3529-3531)cGg>cAg	p.R1177Q	SCN2A_ENST00000283256.6_Missense_Mutation_p.R1177Q|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1177Q|SCN2A_ENST00000375427.2_Missense_Mutation_p.R1177Q	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1177					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GACTGTGTACGGAAGTTCAAG	0.353																																						dbGAP											0													115.0	113.0	113.0					2																	166223736		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3530G>A	2.37:g.166223736G>A	ENSP00000364586:p.Arg1177Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.R1177Q	ENST00000375437.2	37	c.3530	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010611	0.35511	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	6.07	6.07	0.98685	Sodium ion transport-associated (1);	0.090236	0.47852	D	0.000219	T	0.80560	0.4646	L	0.43646	1.37	0.28282	N	0.92393	B;B	0.10296	0.003;0.001	B;B	0.14578	0.011;0.007	T	0.66324	-0.5952	10	0.20519	T	0.43	.	16.0651	0.80865	0.0:0.1332:0.8668:0.0	.	1177;1177	Q99250-2;Q99250	.;SCN2A_HUMAN	Q	1177	ENSP00000364586:R1177Q;ENSP00000349973:R1177Q;ENSP00000283256:R1177Q;ENSP00000364576:R1177Q	ENSP00000283256:R1177Q	R	+	2	0	SCN2A	165931982	0.999000	0.42202	0.999000	0.59377	0.994000	0.84299	2.720000	0.47252	2.885000	0.99019	0.655000	0.94253	CGG	SCN2A	-	pfam_Na_trans_assoc	ENSG00000136531		0.353	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	95	0.00	0	G	NM_021007		166223736	166223736	+1	no_errors	ENST00000283256	ensembl	human	known	69_37n	missense	54	28.95	22	SNP	0.996	A
SLC44A4	80736	genome.wustl.edu	37	6	31832672	31832674	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-D8-A27T-01A-11D-A16D-09	TCGA-D8-A27T-10A-01D-A16D-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ecabcc6a-2767-4ad8-ac4f-54cc3d081b6e	bb595689-dcda-48af-b114-e0fe28c3d794	g.chr6:31832672_31832674delAAG	ENST00000229729.6	-	19	1865_1867	c.1845_1847delCTT	c.(1843-1848)ttcttt>ttt	p.615_616FF>F	SLC44A4_ENST00000544672.1_In_Frame_Del_p.539_540FF>F|SLC44A4_ENST00000375562.4_In_Frame_Del_p.573_574FF>F|NEU1_ENST00000375631.4_5'Flank	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	615					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGAGAAAAAAAAGAAGGACAGGA	0.567																																						dbGAP											0									,,	17,4247		2,13,2117					,,	-0.5	1.0			38	10,8244		3,4,4120	no	coding,coding,coding	SLC44A4	NM_025257.2,NM_001178045.1,NM_001178044.1	,,	5,17,6237	A1A1,A1R,RR		0.1212,0.3987,0.2157	,,	,,		27,12491				-	-	-	SO:0001651	inframe_deletion	0			AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.1845_1847delCTT	6.37:g.31832675_31832677delAAG	ENSP00000229729:p.Phe618del	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	In_Frame_Del	DEL	pfam_Choline_transptr-like	p.F618in_frame_del	ENST00000229729.6	37	c.1847_1845	CCDS4724.2	6																																																																																			SLC44A4	-	pfam_Choline_transptr-like	ENSG00000204385		0.567	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SLC44A4	HGNC	protein_coding	OTTHUMT00000076234.3	38	0.00	0	AAG			31832672	31832674	-1	no_errors	ENST00000229729	ensembl	human	known	69_37n	in_frame_del	17	40.00	12	DEL	1.000:1.000:1.000	-
TIMP3	7078	genome.wustl.edu	37	22	33255330	33255330	+	Missense_Mutation	SNP	C	C	A	rs567817394		TCGA-D8-A27T-01A-11D-A16D-09	TCGA-D8-A27T-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ecabcc6a-2767-4ad8-ac4f-54cc3d081b6e	bb595689-dcda-48af-b114-e0fe28c3d794	g.chr22:33255330C>A	ENST00000266085.6	+	5	903	c.602C>A	c.(601-603)cCg>cAg	p.P201Q	SYN3_ENST00000332840.5_Intron|SYN3_ENST00000358763.2_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	201					cellular response to organic substance (GO:0071310)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						TGGGCCCCCCCGGATAAAAGC	0.592																																						dbGAP											0													53.0	46.0	48.0					22																	33255330		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13911.1	22q12.3	2013-01-08	2008-07-31		ENSG00000100234	ENSG00000100234			11822	protein-coding gene	gene with protein product		188826	"""tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)"""	SFD		8188246, 12652295	Standard	NM_000362		Approved		uc003anb.3	P35625	OTTHUMG00000030784	ENST00000266085.6:c.602C>A	22.37:g.33255330C>A	ENSP00000266085:p.Pro201Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Missense_Mutation	SNP	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	p.P201Q	ENST00000266085.6	37	c.602	CCDS13911.1	22	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353775	0.41700	.	.	ENSG00000100234	ENST00000266085;ENST00000538671	D	0.95103	-3.61	3.91	2.86	0.33363	.	0.061993	0.64402	D	0.000003	D	0.92967	0.7762	M	0.74647	2.275	0.80722	D	1	P	0.38827	0.649	B	0.37015	0.239	D	0.91783	0.5437	10	0.56958	D	0.05	-10.043	12.7268	0.57174	0.1656:0.8344:0.0:0.0	.	201	P35625	TIMP3_HUMAN	Q	201;135	ENSP00000266085:P201Q	ENSP00000266085:P201Q	P	+	2	0	TIMP3	31585330	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.128000	0.50492	0.829000	0.34733	0.561000	0.74099	CCG	TIMP3	-	NULL	ENSG00000100234		0.592	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMP3	HGNC	protein_coding	OTTHUMT00000075672.2	20	0.00	0	C	NM_000362		33255330	33255330	+1	no_errors	ENST00000266085	ensembl	human	known	69_37n	missense	4	69.23	9	SNP	1.000	A
TMPRSS15	5651	genome.wustl.edu	37	21	19770556	19770556	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27T-01A-11D-A16D-09	TCGA-D8-A27T-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ecabcc6a-2767-4ad8-ac4f-54cc3d081b6e	bb595689-dcda-48af-b114-e0fe28c3d794	g.chr21:19770556G>A	ENST00000284885.3	-	2	269	c.236C>T	c.(235-237)tCa>tTa	p.S79L		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	79	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GAAATCCACTGAGAGTTTGTC	0.373																																						dbGAP											0													77.0	79.0	78.0					21																	19770556		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.236C>T	21.37:g.19770556G>A	ENSP00000284885:p.Ser79Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKL7	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_MAM_dom,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_Srcr_rcpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_ConA-like_lec_gl,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_CUB,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S79L	ENST00000284885.3	37	c.236	CCDS13571.1	21	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850611	0.71719	.	.	ENSG00000154646	ENST00000284885;ENST00000422787	T;T	0.63417	-0.04;-0.04	5.23	5.23	0.72850	SEA (3);	0.263937	0.33631	N	0.004717	T	0.76321	0.3971	M	0.66939	2.045	0.34555	D	0.711772	D	0.89917	1.0	D	0.97110	1.0	T	0.81623	-0.0849	9	.	.	.	.	14.1751	0.65537	0.0:0.0:1.0:0.0	.	79	P98073	ENTK_HUMAN	L	79;34	ENSP00000284885:S79L;ENSP00000398253:S34L	.	S	-	2	0	TMPRSS15	18692427	1.000000	0.71417	0.987000	0.45799	0.651000	0.38670	5.586000	0.67503	2.729000	0.93468	0.643000	0.83706	TCA	TMPRSS15	-	pfam_SEA,smart_SEA,pfscan_SEA	ENSG00000154646		0.373	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS15	HGNC	protein_coding	OTTHUMT00000158231.2	108	0.00	0	G	NM_002772		19770556	19770556	-1	no_errors	ENST00000284885	ensembl	human	known	69_37n	missense	41	32.79	20	SNP	0.991	A
